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Sample records for albinism

  1. Albinism

    Science.gov (United States)

    ... albinism have white or pink hair, skin, and iris color. They also have vision problems. Another type of ... albinism will have one of these symptoms: No color in the hair, skin, or iris of the eye Lighter than normal skin and ...

  2. Albinism

    Science.gov (United States)

    ... have albinism. So what about kids with light skin and light hair . . . or animals with white fur or feathers? Do they have ... like their mom or dad. Likewise, not all animals with white fur or feathers have ... taking care of their eyes and skin, especially if they're going to be in ...

  3. Oculocutaneous albinism.

    Science.gov (United States)

    Grønskov, Karen; Ek, Jakob; Brondum-Nielsen, Karen

    2007-11-02

    Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. The clinical spectrum of OCA ranges, with OCA1A being the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3 and OCA4 show some pigment accumulation over time. Clinical manifestations include various degrees of congenital nystagmus, iris hypopigmentation and translucency, reduced pigmentation of the retinal pigment epithelium, foveal hypoplasia, reduced visual acuity usually (20/60 to 20/400) and refractive errors, color vision impairment and prominent photophobia. Misrouting of the optic nerves is a characteristic finding, resulting in strabismus and reduced stereoscopic vision. The degree of skin and hair hypopigmentation varies with the type of OCA. The incidence of skin cancer may be increased. All four types of OCA are inherited as autosomal recessive disorders. At least four genes are responsible for the different types of the disease (TYR, OCA2, TYRP1 and MATP). Diagnosis is based on clinical findings of hypopigmentation of the skin and hair, in addition to the characteristic ocular symptoms. Due to the clinical overlap between the OCA forms, molecular diagnosis is necessary to establish the gene defect and OCA subtype. Molecular genetic testing of TYR and OCA2 is available on a clinical basis, while, at present, analysis of TYRP1 and MATP is on research basis only. Differential diagnosis includes ocular albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, and Waardenburg syndrome type II. Carrier detection and prenatal diagnosis are possible when the disease causing mutations have been identified in the family. Glasses

  4. Oculocutaneous albinism

    Directory of Open Access Journals (Sweden)

    Brondum-Nielsen Karen

    2007-11-01

    Full Text Available Abstract Oculocutaneous albinism (OCA is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. The clinical spectrum of OCA ranges, with OCA1A being the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3 and OCA4 show some pigment accumulation over time. Clinical manifestations include various degrees of congenital nystagmus, iris hypopigmentation and translucency, reduced pigmentation of the retinal pigment epithelium, foveal hypoplasia, reduced visual acuity usually (20/60 to 20/400 and refractive errors, color vision impairment and prominent photophobia. Misrouting of the optic nerves is a characteristic finding, resulting in strabismus and reduced stereoscopic vision. The degree of skin and hair hypopigmentation varies with the type of OCA. The incidence of skin cancer may be increased. All four types of OCA are inherited as autosomal recessive disorders. At least four genes are responsible for the different types of the disease (TYR, OCA2, TYRP1 and MATP. Diagnosis is based on clinical findings of hypopigmentation of the skin and hair, in addition to the characteristic ocular symptoms. Due to the clinical overlap between the OCA forms, molecular diagnosis is necessary to establish the gene defect and OCA subtype. Molecular genetic testing of TYR and OCA2 is available on a clinical basis, while, at present, analysis of TYRP1 and MATP is on research basis only. Differential diagnosis includes ocular albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, and Waardenburg syndrome type II. Carrier detection and prenatal diagnosis are possible when the disease causing mutations have been

  5. Genetics Home Reference: ocular albinism

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Ocular albinism Ocular albinism Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Ocular albinism is a genetic condition that primarily affects the ...

  6. Albinism in Europe.

    Science.gov (United States)

    Mártinez-García, Mónica; Montoliu, Lluís

    2013-05-01

    Albinism is a rare genetic condition associated with a variable hypopigmentation phenotype, which can affect the pigmentation of only the eyes or both the eyes and the skin/hair, resulting in ocular (OA) or oculocutaneous albinism (OCA), respectively. At least four forms of OCA and one of OA are known, associated with TYR (OCA1), OCA2 (OCA2), TYRP1 (OCA3), SLC45A2 (OCA4) and GPR143 (OA1) loci, respectively. Additionally, the rarest syndromic forms of albinism, affecting the normal function of other organs, can be grouped in Hermansky-Pudlak syndrome (HPS1-9) and the Chediak-Higashi syndrome (CHS1). In summary, a total of 15 genes are currently associated with various types of albinism. However, new genes have been recently described, associated with autosomal recessive oculocutaneous albinism with highly similar phenotypes but diverse molecular origin, indicating that there are likely to be more than 15 genes whose mutations will be associated with albinism. In this review, we will describe the different types of albinism and comment on its prevalence in European countries. Some preclinical attempts for innovative therapeutic approaches of different types of albinism will be also discussed. © 2013 Japanese Dermatological Association.

  7. [Genetics of oculocutaneous albinism].

    Science.gov (United States)

    Zühlke, C; Stell, A; Käsmann-Kellner, B

    2007-08-01

    Albinism comprises a heterogeneous group of nonprogressive genetic disorders characterized by the absence of pigmentation in the skin, hair, and/or eyes. Hypopigmentation or complete lack of pigmentation is caused by an enzyme deficiency involving the production, metabolism, or distribution of melanin. Clinically, oculocutaneous and ocular types, as well as syndromes associated with albinism resulting from mutations in at least 14 genes, are distinguishable. Most frequent is oculocutaneous albinism (OCA), which is subdivided nowadays into four forms, OCA 1-OCA 4. OCA is inherited as an autosomal recessive trait. Clinical differentiation of OCA types is difficult due to the observed range of phenotypic variation. Thus, genetic analysis may be helpful with respect to a precise diagnosis. Sequencing of the four genes associated with OCA detects variations in approximately 60-70% of German patients with albinism. The majority of German patients are affected by OCA 1 resulting from mutations in the gene for tyrosinase, the key enzyme in the synthesis of melanin pigment. Worldwide, OCA2 is the most frequent form of albinism.

  8. [Oculocutaneous and ocular albinism].

    Science.gov (United States)

    Kubasch, A S; Meurer, M

    2017-11-01

    Albinism can be divided into oculocutaneous albinism (OCA) and ocular albinism (OA). In the differential diagnostics these can be distinguished from rarer syndromes with partial albinism, which are frequently associated with susceptibility to infections and neurological symptoms. The OCA is an autosomal recessive inherited disease of melanin biosynthesis, which leads to complete or partial loss of melanin in the skin, hair follicles and eyes. Of the seven currently known subtypes (OCA 1-7), four are well-characterized (OCA 1-4). These are based on gene mutations, which code for tyrosinase, a key enzyme in melanin synthesis and for further proteins. These play an important role in the catalytic activity of tyrosinase and the structure and function of melanosomes. In the presence of these subtypes, the clinical symptoms and the course of the disease show a pronounced variability, especially in the type and extent of pigmentation of the skin and hair as well as the severity of eye involvement, which makes the phenotypic classification difficult. Treatment priorities are a consistent protection from UV light for prophylaxis against skin cancer and regular preventive investigations. The ocular alterations typical for albinism necessitate timely diagnostics and care by institutions specialized in ophthalmology. Novel strategies for systemic treatment of subtypes of albinism are in preclinical testing. The OA without skin involvement shows X‑linked inheritance, is much rarer and is characterized by reduced pigmentation of the retina and iris, nystagmus and macular hypoplasia, sometimes with substantial loss of visual acuity. The typical ocular symptoms of OA can be manifested to a varying extent in all forms of OCA.

  9. Ocular straylight in albinism

    NARCIS (Netherlands)

    Kruijt, Bastiaan; Franssen, Luuk; Prick, Liesbeth J. J. M.; van Vliet, Johannes M. J.; van den Berg, Thomas J. T. P.

    2011-01-01

    Albinism is an inherited disorder that affects the melanin biosynthesis pathway, which results in reduced or absent pigment formation. This may lead to increased light transmission through the iris and more reflected light from the fundus. Both these effects contribute to the occurrence of ocular

  10. Genetics Home Reference: oculocutaneous albinism

    Science.gov (United States)

    ... Americans, some Native American groups, and people from sub-Saharan Africa. Type 3, specifically rufous oculocutaneous albinism , has been ... personal health condition should consult with a qualified healthcare professional . About Selection Criteria for Links Data Files & ...

  11. Complete albinism in a Podarcis muralis newborn

    Directory of Open Access Journals (Sweden)

    Filippo Spadola

    2007-01-01

    Full Text Available The authors describe a case of complete albinism in a Podarcis muralis newborn, from Chieti (Abruzzo, central Italy in September 2004. This is the first complete albinism case in a Podarcis spp. In the world.

  12. Albinism: Educational Techniques for Parents and Teachers.

    Science.gov (United States)

    Ashley, Julia R.; Cates, Dennis L.

    1992-01-01

    A survey of teachers of the visually impaired and adults with albinism or parents of children with albinism (total responses=144) found no use of Braille by the adults or children with albinism, awareness of the condition by almost all teachers, support for mainstreaming by all, and specific teaching suggestions from teachers. (DB)

  13. Albinism: classification, clinical characteristics, and recent findings.

    Science.gov (United States)

    Summers, C Gail

    2009-06-01

    To describe the clinical characteristics and recent findings in the heterogeneous group of inherited disorders of melanin biosynthesis grouped as "albinism." The current classification of albinism, and the cutaneous, ocular, and central nervous system characteristics are presented. Recent clinical findings are summarized. Albinism is now classified based on genes known to be responsible for albinism. Foveal hypoplasia is invariably present and individuals with albinism often have delayed visual development, reduced vision, nystagmus, a positive angle kappa, strabismus, iris transillumination, and absent or reduced melanin pigment in the fundi. A visual-evoked potential can document the excessive retinostriate decussation seen in albinism. Grating acuity can be used to document delayed visual development in preverbal children. Glasses are often needed to improve visual acuity and binocular alignment. Albinism is caused by several different genes. Heterogeneity in clinical phenotype indicates that expressivity is variable.

  14. Vision defects in albinism.

    Science.gov (United States)

    Pérez-Carpinell, J; Capilla, P; Illueca, C; Morales, J

    1992-08-01

    We have examined the possible presence of color vision anomalies in 9 individuals (17 eyes, 1 blind) with fundus findings suggesting ocular albinism using the Ishihara plates, the 28-hue Roth test, and the Davico anomaloscope. Results indicate that four of these individuals show no sign of the anomalies expected in an albino in either of the two eyes. Of the remaining cases, two are simple deuteranomals in both eyes, according to Pickford's classification criteria. The rest have protanomaly; however, in these the deviation toward red appears in both eyes in only one subject, whereas in the other two subjects it appears in only one eye, their binocular color vision being basically normal. Our study shows that a large proportion of these albinos have photophobia, pendular nystagmus, strabismus, noticeable refractive errors (astigmatism and high myopia), and poor visual acuity [usually less than 6/30 (20/100) with correction]. The measurement of contrast sensitivity function (CSF) indicates that the frequency of 12 cpd cannot be perceived, even in binocular vision.

  15. Albinism: A Survey of Attitudes and Behavior.

    Science.gov (United States)

    Vander Kolk, Charles J.; Bright, Bobra C.

    1983-01-01

    Attitudes of tenth graders were more positive after receiving information about and exposure to albinism, an inherited condition affecting skin and hair color as well as visual functioning. Attitude difficulties are compounded by poor self-concept and racial factors. Albinic persons frequently know very little about the condition. (CL)

  16. Albinism: Improving Teacher and Caregiver Strategies for Meeting the Special Needs of Children with the Visual Disability of Ocular Albinism or Oculocutaneous Albinism (Birth to Age 14).

    Science.gov (United States)

    Ashley, Julia Robertson

    This practicum report addresses the educational needs of students with the visual disability of ocular or oculocutaneous albinism. Two booklets were developed, published, and distributed--one for regular education teachers of children with albinism and one specifically about the very young child with albinism. The booklets discuss the special…

  17. Clinical Insights Into Foveal Morphology in Albinism.

    Science.gov (United States)

    McCafferty, Brandon K; Wilk, Melissa A; McAllister, John T; Stepien, Kimberly E; Dubis, Adam M; Brilliant, Murray H; Anderson, Jennifer L; Carroll, Joseph; Summers, C Gail

    2015-01-01

    A hallmark of albinism is foveal hypoplasia. However, literature suggests variable foveal development. This study evaluates the association between ocular phenotype and foveal morphology to demonstrate the broad structural and functional spectrum. Best-corrected visual acuity (BCVA), nystagmus, angle kappa, stereoacuity, iris transillumination, macular melanin presence, foveal avascular zone, and annular reflex were recorded in 14 patients with albinism. Spectral-domain optical coherence tomography provided macular images. The clinical phenotype was broad, with BCVA varying from 20/20 to 20/100. Better BCVA was associated with a preserved foveal avascular zone, annular macular reflex, stereoacuity, and macular melanin. Imaging demonstrated a continuum of foveal development correlating with BCVA. Individuals with a rudimentary pit had normal inner and outer segment lengthening and better BCVA. The spectrum of ocular structure and visual function in albinism is broad, suggesting a possible diagnosis of albinism in a patient with an even more normal clinical presentation. Copyright 2015, SLACK Incorporated.

  18. Incomplete albinism in Discoglossus pictus (Otth, 1837

    Directory of Open Access Journals (Sweden)

    Filippo Spadola

    2010-12-01

    Full Text Available The authors present an incomplete albinism case in a Discoglossus pictus subject found in Sicily. This is the first note for Italian territory, the second for the species and the third for Discoglossus genus.

  19. [Clinical and genetic aspects of albinism].

    Science.gov (United States)

    Arveiler, Benoit; Lasseaux, Eulalie; Morice-Picard, Fanny

    Albinism is a genetic disease affecting 1/17,000 person worldwide. It constitutes the second cause of congenital loss of visual acuity after optic atrophy. Albinism is heterogeneous both at the clinical and genetic levels. It is characterized by ocular development anomalies and by a variable degree of hypopigmentation. Clinically, three forms of the disease are described: oculocutaneous, ocular and syndromic (Hermansky-Pudlak syndrome, Chediak-Higashi syndrome). Nineteen genes involved in the different types of albinism have been described so far. The broad phenotypic variability between the different forms but also within a particular form renders the establishment of phenotype-genotype correlations impossible. A genetic test exploring all 19 genes is necessary to establish the diagnosis and to distinguish between syndromic and non-syndromic forms. We present the creation of an albinism-dedicated Day Hospital at the University Hospital of Bordeaux. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  20. The experience of people with oculocutaneous albinism

    Directory of Open Access Journals (Sweden)

    Mmuso B.J. Pooe- Monyemore

    2012-07-01

    Full Text Available This article reports the experiences of people with oculocutaneous albinism in South Africa. Oculocutaneous albinism is an inherited disorder characterised by the defective production of melanin, with little or no pigmentation in the skin, hair and eyes. This condition is found globally, with a high prevalence in sub-Saharan Africa and in clusters in South America. People with this condition are often stigmatised and discriminated against owing to myths and superstitions held by the public about the condition. To date no studies have explored the psychosocial aspects of oculocutaneous albinism. A qualitative study was conducted in Johannesburg, South Africa during 2007 where a purposive sample of 15 members of the black population with oculocutaneous albinism participated in in-depth individualphenomenological interviews. One central question was posed to facilitate the interviews: Could you please share your experience as a person with albinism? Data from the interviews were analysed using Collaizi’s qualitative data analysis method and three main themesemerged: (1 perceptions of the internal environment, for example the self; (2 experiences in the external environment, for example family and community; and (3 the need for selfdevelopment and growth based on their experiences. Recommendations are made to enhance the self-concept of and promote a sense of belonging, self-development and growth in people with oculocutaneous albinism.

  1. The Student with Albinism in the Regular Classroom.

    Science.gov (United States)

    Ashley, Julia Robertson

    This booklet, intended for regular education teachers who have children with albinism in their classes, begins with an explanation of albinism, then discusses the special needs of the student with albinism in the classroom, and presents information about adaptations and other methods for responding to these needs. Special social and emotional…

  2. Albinism

    Science.gov (United States)

    ... colored part of the eye) has very little color so a person's eyes might look pink or reddish. This is caused ... in the sun. Skin Precautions Besides giving skin, eyes, and hair ... of burn — which is why people with darker skin (more melanin) are less likely ...

  3. Albinism

    Science.gov (United States)

    ... inherited disorders where there is little or no production of the pigment melanin. The type and amount of melanin your ... Freckles Moles, with or without pigment — moles without pigment are generally ... For others, melanin production may begin or increase during childhood and the ...

  4. Oculocutaneous albinism complicated with an ulcerated plaque

    Directory of Open Access Journals (Sweden)

    Lokanatha Keshavalu

    2013-04-01

    Full Text Available A 32-year-old male with a history of albinism and farmer by occupation presented with an ulcerated plaque on the right wrist. The patient had light eyes, hair, and skin. Physical examination showed extensive photodamage. A skin biopsy specimen from the plaque revealed a well-differentiated squamous-cell carcinoma. Wide surgical excision was done. The most common types of oculocutaneous albinism (OCA, OCA 1 and OCA 2, are autosomal recessive disorders of pigmentation that commonly affect the skin, hair and eyes. Photodamage and skin cancers plague patients with albinism. Albinos face a myriad of social and medical issues. Importance of photoprotection, skin cancer surveillance and treatment has been stressed upon in this report.

  5. Altered whole-brain connectivity in albinism.

    Science.gov (United States)

    Welton, Thomas; Ather, Sarim; Proudlock, Frank A; Gottlob, Irene; Dineen, Robert A

    2017-02-01

    Albinism is a group of congenital disorders of the melanin synthesis pathway. Multiple ocular, white matter and cortical abnormalities occur in albinism, including a greater decussation of nerve fibres at the optic chiasm, foveal hypoplasia and nystagmus. Despite this, visual perception is largely preserved. It was proposed that this may be attributable to reorganisation among cerebral networks, including an increased interhemispheric connectivity of the primary visual areas. A graph-theoretic model was applied to explore brain connectivity networks derived from resting-state functional and diffusion-tensor magnetic resonance imaging data in 23 people with albinism and 20 controls. They tested for group differences in connectivity between primary visual areas and in summary network organisation descriptors. Main findings were supplemented with analyses of control regions, brain volumes and white matter microstructure. Significant functional interhemispheric hyperconnectivity of the primary visual areas in the albinism group were found (P = 0.012). Tests of interhemispheric connectivity based on the diffusion-tensor data showed no significant group difference (P = 0.713). Second, it was found that a range of functional whole-brain network metrics were abnormal in people with albinism, including the clustering coefficient (P = 0.005), although this may have been driven partly by overall differences in connectivity, rather than reorganisation. Based on the results, it was suggested that changes occur in albinism at the whole-brain level, and not just within the visual processing pathways. It was proposed that their findings may reflect compensatory adaptations to increased chiasmic decussation, foveal hypoplasia and nystagmus. Hum Brain Mapp 38:740-752, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  6. Albinism in Africa as a public health issue

    Science.gov (United States)

    Hong, Esther S; Zeeb, Hajo; Repacholi, Michael H

    2006-01-01

    Background Oculocutaneous albinism (OCA) is a genetically inherited autosomal recessive condition and OCA2, tyrosine-positive albinism, is the most prevalent type found throughout Africa. Due to the lack of melanin, people with albinism are more susceptible to the harmful effects of ultraviolet radiation exposure. This population must deal with issues such as photophobia, decreased visual acuity, extreme sun sensitivity and skin cancer. People with albinism also face social discrimination as a result of their difference in appearance. The World Health Organization is currently investigating the issues concerning this vulnerable population. Methods Systematic electronic search of articles in PubMed concerning albinism in Africa. Furthermore, a World Health Organization (WHO) pilot survey of albinism was drafted in English, French and Portuguese, and distributed to African countries through WHO African Regional Offices (AFRO) in an attempt to gather further information on albinism. Results Epidemiologic data on albinism, such as prevalence, were available for South Africa, Zimbabwe, Tanzania and Nigeria. Prevalences as high as 1 in 1,000 were reported for selected populations in Zimbabwe and other specific ethnic groups in Southern Africa. An overall estimate of albinism prevalences ranges from 1/5,000 – 1/15,000. In addition, both the literature review and the survey underscored the medical and social issues facing people with albinism. Conclusion The estimated prevalence of albinism suggests the existence of tens of thousands of people living with albinism in Africa. This finding reiterates the need for increased awareness of and public health interventions for albinism in order to better address the medical, psychological and social needs of this vulnerable population. PMID:16916463

  7. Albinism in Africa as a public health issue

    Directory of Open Access Journals (Sweden)

    Hong Esther S

    2006-08-01

    Full Text Available Abstract Background Oculocutaneous albinism (OCA is a genetically inherited autosomal recessive condition and OCA2, tyrosine-positive albinism, is the most prevalent type found throughout Africa. Due to the lack of melanin, people with albinism are more susceptible to the harmful effects of ultraviolet radiation exposure. This population must deal with issues such as photophobia, decreased visual acuity, extreme sun sensitivity and skin cancer. People with albinism also face social discrimination as a result of their difference in appearance. The World Health Organization is currently investigating the issues concerning this vulnerable population. Methods Systematic electronic search of articles in PubMed concerning albinism in Africa. Furthermore, a World Health Organization (WHO pilot survey of albinism was drafted in English, French and Portuguese, and distributed to African countries through WHO African Regional Offices (AFRO in an attempt to gather further information on albinism. Results Epidemiologic data on albinism, such as prevalence, were available for South Africa, Zimbabwe, Tanzania and Nigeria. Prevalences as high as 1 in 1,000 were reported for selected populations in Zimbabwe and other specific ethnic groups in Southern Africa. An overall estimate of albinism prevalences ranges from 1/5,000 – 1/15,000. In addition, both the literature review and the survey underscored the medical and social issues facing people with albinism. Conclusion The estimated prevalence of albinism suggests the existence of tens of thousands of people living with albinism in Africa. This finding reiterates the need for increased awareness of and public health interventions for albinism in order to better address the medical, psychological and social needs of this vulnerable population.

  8. A Comparison of the Interactive Play Behaviours between Children with Albinism and Their Siblings and Children without Albinism and Their Non-Albino Siblings

    Science.gov (United States)

    Javangwe, Gwatirera; Mukondyo, Rachel Z.

    2012-01-01

    The study explored the nature of the interactive play behaviours of children with albinism and children without albinism and compared the interactive behaviours of both children with albinism and children without albinism. Naturalistic observations were conducted during periods of free play, using the interactive play behaviour checklist aided by…

  9. Socio-Cultural Conception of Albinism

    African Journals Online (AJOL)

    DR Nneka

    2015-04-14

    Apr 14, 2015 ... cultural conception of albinism and albinos as disabled and spirit beings should be deconstructed to pave the ... pigment that protects the skin from ultraviolet light from the sun (Brilliant 2009;. Thuku 2011). ... sub-Saharan Africa largely because the light skin tone of PWA stands out sharply in communities ...

  10. Socio-Cultural Conception of Albinism

    African Journals Online (AJOL)

    DR Nneka

    2015-04-14

    Apr 14, 2015 ... Persons with albinism (PWA) may lack pigmentation in the skin, eyes and hair. The exact prevalence of ..... This explains some of the reasons why many PWA are more likely than others to develop low self-esteem and ..... Dramatic Consequence of having a Skin Color Disease, http://colorfoundation.org.

  11. Socio-Cultural Conception of Albinism and Sexuality Challenges ...

    African Journals Online (AJOL)

    Socio-Cultural Conception of Albinism and Sexuality Challenges among Persons with Albinism (PWA) in South-West, Nigeria. ... For the female PWA the risk of being used for money making rituals; not knowing a sincere partner; their more fragile nature and perceived fear of societal objection and hatred in seeing a ...

  12. GPR143 gene mutation analysis in pediatric patients with albinism.

    Science.gov (United States)

    Trebušak Podkrajšek, Katarina; Stirn Kranjc, Branka; Hovnik, Tinka; Kovač, Jernej; Battelino, Tadej

    2012-09-01

    X-linked ocular albinism type 1 is difficult to differentiate clinically from other forms of albinism in young patients. X-linked ocular albinism type 1 is caused by mutations in the GPR143 gene, encoding melanosome specific G-protein coupled receptor. Patients typically present with moderately to severely reduced visual acuity, nystagmus, strabismus, photophobia, iris translucency, hypopigmentation of the retina, foveal hypoplasia and misrouting of optic nerve fibers at the chiasm. Following clinical ophthalmological evaluation, GPR143 gene mutational analyses were performed in a cohort of 15 pediatric male patients with clinical signs of albinism. Three different mutations in the GPR143 gene were identified in four patients, including a novel c.886G>A (p.Gly296Arg) mutation occurring "de novo" and a novel intronic c.360 + 5G>A mutation, identified in two related boys. Four patients with X-linked ocular albinism type 1 were identified from a cohort of 15 boys with clinical signs of albinism using mutation detection methods. Genetic analysis offers the possibility of early definitive diagnosis of ocular albinism type 1 in a significant portion of boys with clinical signs of albinism.

  13. Biology and genetics of oculocutaneous albinism and vitiligo ...

    African Journals Online (AJOL)

    Pigmentation disorders span the genetic spectrum from single-gene autosomal recessive disorders such as oculocutaneous albinism (OCA), the autosomal dominant disorder piebaldism to X-linked ocular albinism and multifactorial vitiligo. OCA connotes a group of disorders that result in hypopigmented skin due to ...

  14. Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.

    Science.gov (United States)

    Khordadpoor-Deilamani, Faravareh; Akbari, Mohammad Taghi; Karimipoor, Morteza; Javadi, Gholamreza

    2015-01-01

    Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented eyes (in patients with ocular albinism) or hair, skin, and eyes (in individuals with oculocutaneous albinism). It is associated with decreased visual acuity, nystagmus, strabismus, and photophobia. The tyrosinase gene is known to be involved in both oculocutaneous albinism and autosomal recessive ocular albinism. In this study, we aimed to screen the mutations in the TYR gene in the nonsyndromic OCA and autosomal recessive ocular albinism patients from Iran. The tyrosinase gene was examined in 23 unrelated patients with autosomal recessive ocular albinism or nonsyndromic OCA using DNA sequencing and bioinformatics analysis. TYR gene mutations were identified in 14 (app. 60%) albinism patients. We found 10 mutations, 3 of which were novel. No mutation was found in our ocular albinism patients, but one of them was heterozygous for the p.R402Q polymorphism.

  15. Albinism: particular attention to the ocular motor system.

    Science.gov (United States)

    Hertle, Richard W

    2013-01-01

    The purpose of this report is to summarize an understanding of the ocular motor system in patients with albinism. Other than the association of vertical eccentric gaze null positions and asymmetric, (a) periodic alternating nystagmus in a large percentage of patients, the ocular motor system in human albinism does not contain unique pathology, rather has "typical" types of infantile ocular oscillations and binocular disorders. Both the ocular motor and afferent visual system are affected to varying degrees in patients with albinism, thus, combined treatment of both systems will maximize visual function.

  16. Visual deficits in Nepalese patients with oculocutaneous albinism

    Directory of Open Access Journals (Sweden)

    Safal Khanal

    2016-04-01

    Conclusion: Patients with OCA present with a broad spectrum of visual deficits that impair the visual functions. Significant improvement in visual acuity following optical correction serves as an impetus to the reduction of visual disabilities in individuals with albinism.

  17. Oculocutaneous Albinism associated with Axenfeld’s Anomaly

    Science.gov (United States)

    Keshav, B R; Mohammed, Mahmood J; Mahmood, Nasir

    2010-01-01

    Oculocutaneous albinism and anterior mesodermal dysgenesis are well-known heritable conditions, but their occurrence in association has only been rarely reported. We present cases of three siblings of a family with identical presentation suggesting that this association may be more than just a coincidence. This association is worth noting, as this could be one of the causes of ocular morbidity and poor vision in oculocutaneous albinism. PMID:21509091

  18. Abnormal lateral geniculate nucleus and optic chiasm in human albinism.

    Science.gov (United States)

    Mcketton, Larissa; Kelly, Krista R; Schneider, Keith A

    2014-08-01

    Our objective was to measure how the misrouting of retinal ganglion cell (RGC) fibers affects the organization of the optic chiasm and lateral geniculate nuclei (LGN) in human albinism. We compared the chiasmal structures and the LGN in both pigmented controls and patients with albinism by using high-resolution structural magnetic resonance imaging (MRI). We studied 12 patients with oculocutaneous albinism and 12 age-matched pigmented controls. Using a 3T MRI scanner, we acquired a T1 -weighted three-dimensional magnetization-prepared rapid gradient-echo (MPRAGE) image of the whole brain, oriented so that the optic nerves, chiasm, and tracts were in the same plane. We acquired multiple proton density-weighted images centered on the thalamus and midbrain, and averaged them to increase the signal, enabling precise manual tracing of the anatomical boundaries of the LGN. Albinism patients exhibited significantly smaller diameters of the optic nerves, chiasm and tracts, and optic chiasm and LGN volume compared with controls (P albinism compared with the control group can be attributed to the abnormal crossing of optic fibers and the reduction of RGCs in the central retina. The volume of the LGN devoted to the center of the visual field may be reduced in albinism due to fewer RGCs representing the area where the fovea would normally lie. Our data may be clinically useful in addressing how genetic deficits compromise proper structural and functional development in the brain. © 2014 Wiley Periodicals, Inc.

  19. Albinism, stigma, subjectivity and global-local discourses in Tanzania.

    Science.gov (United States)

    Brocco, Giorgio

    2016-12-01

    Societal ideas and explanations of albinism at the local level in Tanzania are conceived in terms of family history, social relations, economic status, moral-religious positions, global-local flows of information and humanitarian actions on behalf of people with the congenital condition. This paper aims to show how the subjectivities of people with albinism in Tanzania are shaped and re-shaped through local moral conceptions as well as globalizing (bio)medical explanations of albinism. An exemplary case study of a 28-year-old woman, plus episodes from the lives of seven other informants with the condition, are analyzed in order to understand, on the one hand, local social relationships between people with albinism and other individuals in family and community settings, and on the other hand, the interconnections between persons with albinism and global humanitarian actors and the broadcast media. When stigma and marginalizing behaviors are perceived by individuals with albinism in Tanzania as impeding their social lives, they employ different coping strategies and discourses to enhance social acceptance.

  20. Being black in a white skin: Beliefs and stereotypes around albinism at a South African university

    Directory of Open Access Journals (Sweden)

    Relebohile Phatoli

    2015-05-01

    Objectives: The study endeavoured to explore the beliefs and practices regarding albinism within a South African university, and the availability of support services. Method: The research was located within an interpretive qualitative paradigm and was framed within the theories of stigma, discrimination and ‘othering’. Interviews were conducted with five students with albinism and 10 students without albinism. Results: Findings confirmed the existence of myths and stereotypes regarding albinism. Students with albinism tended to exclude themselves from the rest of the student community to avoid discrimination and stereotypes around their condition. Conclusion: People with albinism can teach us about social constructions of race, colour and relations between minority groups and the majority culture. Results have implications for schools, disability units at universities, and albinism societies in terms of opening up channels of communication between people with albinism and the general public and fostering knowledge and awareness thereof.

  1. Albinism in Africa: stigma, slaughter and awareness campaigns.

    Science.gov (United States)

    Cruz-Inigo, Andres E; Ladizinski, Barry; Sethi, Aisha

    2011-01-01

    Oculocutaneous albinism is an autosomal recessive disorder characterized by a lack of pigment in the hair, skin, and eyes. Albinism is caused by defective or absent tyrosinase, an enzyme necessary for melanogenesis. Although rare in the western world, albinism is quite common in sub-Saharan Africa, likely as a result of consanguinity. Albinism has long been associated with stigma and superstitions, such as the belief that a white man impregnated the mother or that the child is the ghost of a European colonist. Recently, a notion has emerged that albino body parts are good-luck charms or possess magical powers. These body parts may be sold for as much as $75,000 on the black market. As a result there have been over 100 albino murders in Tanzania, Burundi, and other parts of Africa in the past decade, which is now beginning to garner international attention and thus prompting novel legislation. To ameliorate the plight of individuals with albinism in Africa, a coordinated effort must be organized, involving medical professionals (dermatologists, ophthalmologists, oncologists), public health advocates and educators, social workers, human rights and antidiscrimination activists, law-enforcement agencies, and governmental support groups. The main issues that should be addressed include skin cancer prevention education, stigma and discrimination denouncement, and swift prosecution of albino hunters and their sponsors. Copyright © 2011. Published by Elsevier Inc.

  2. Increasing the complexity: new genes and new types of albinism.

    Science.gov (United States)

    Montoliu, Lluís; Grønskov, Karen; Wei, Ai-Hua; Martínez-García, Mónica; Fernández, Almudena; Arveiler, Benoît; Morice-Picard, Fanny; Riazuddin, Saima; Suzuki, Tamio; Ahmed, Zubair M; Rosenberg, Thomas; Li, Wei

    2014-01-01

    Albinism is a rare genetic condition globally characterized by a number of specific deficits in the visual system, resulting in poor vision, in association with a variable hypopigmentation phenotype. This lack or reduction in pigment might affect the eyes, skin, and hair (oculocutaneous albinism, OCA), or only the eyes (ocular albinism, OA). In addition, there are several syndromic forms of albinism (e.g. Hermansky-Pudlak and Chediak-Higashi syndromes, HPS and CHS, respectively) in which the described hypopigmented and visual phenotypes coexist with more severe pathological alterations. Recently, a locus has been mapped to the 4q24 human chromosomal region and thus represents an additional genetic cause of OCA, termed OCA5, while the gene is eventually identified. In addition, two new genes have been identified as causing OCA when mutated: SLC24A5 and C10orf11, and hence designated as OCA6 and OCA7, respectively. This consensus review, involving all laboratories that have reported these new genes, aims to update and agree upon the current gene nomenclature and types of albinism, while providing additional insights from the function of these new genes in pigment cells. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  3. The early-stage diagnosis of albinic embryos by applying optical coherence tomography

    Science.gov (United States)

    Yang, Bor-Wen; Wang, Shih-Yuan; Wang, Yu-Yen; Cai, Jyun-Jhang; Chang, Chung-Hao

    2013-09-01

    Albinism is a kind of congenital disease of abnormal metabolism. Poecilia reticulata (guppy fish) is chosen as the model to study the development of albinic embryos as it is albinic, ovoviviparous and with short life period. This study proposed an imaging method for penetrative embryo investigation using optical coherence tomography. By imaging through guppy mother’s reproduction purse, we found the embryo’s eyes were the early-developed albinism features. As human’s ocular albinism typically appear at about four weeks old, it is the time to determine if an embryo will grow into an albino.

  4. Prosthodontic management of an albinism patient-dental implications and management.

    Science.gov (United States)

    Murthy, Varsha; V, Yuvraj; Thomas, Shaji; Nair, Preeti

    2013-01-22

    Albinism is a congenital hypopigmentary disorder. Albinism is due to the dysfunction of the melanin-producing cells (melanocytes) resulting in defective production of melanin from tyrosine through a complex pathway of metabolic reactions. Little is known about the varied dental features that albinism presents with. This case report summarises the features encountered in albinism, the different oral findings available in the literature and also presents a case of an albinism patient treated with fixed partial denture and the precautions to be exercised for such patients.

  5. Refractive errors in Cameroonians diagnosed with complete oculocutaneous albinism.

    Science.gov (United States)

    Eballé, André Omgbwa; Mvogo, Côme Ebana; Noche, Christelle; Zoua, Marie Evodie Akono; Dohvoma, Andin Viola

    2013-01-01

    Albinism causes significant eye morbidity and amblyopia in children. The aim of this study was to determine the refractive state in patients with complete oculocutaneous albinism who were treated at the Gynaeco-Obstetric and Paediatric Hospital, Yaoundé, Cameroon and evaluate its effect on vision. We carried out this retrospective study at the ophthalmology unit of our hospital. All oculocutaneous albino patients who were treated between March 1, 2003 and December 31, 2011 were included. Thirty-five patients (70 eyes) diagnosed with complete oculocutaneous albinism were enrolled. Myopic astigmatism was the most common refractive error (40%). Compared with myopic patients, those with myopic astigmatism and hypermetropic astigmatism were four and ten times less likely, respectively, to demonstrate significant improvement in distance visual acuity following optical correction. Managing refractive errors is an important way to reduce eye morbidity-associated low vision in oculocutaneous albino patients.

  6. Genetic control of albinism in pickerelweed (Pontederia cordata L.).

    Science.gov (United States)

    Gettys, Lyn A; Wofford, David S

    2007-01-01

    Pickerelweed (Pontederia cordata L.) is a diploid (2n = 2x = 16) perennial aquaphyte. Preliminary studies revealed that a group of nonalbino pickerelweed plants maintained for breeding and inheritance studies regularly produced albino seedlings. The objective of this experiment was to determine the number of loci, number of alleles, and gene action controlling albinism in pickerelweed. Five nonalbino parental lines were used in this experiment to create S(1) and F(1) populations. F(2) populations were produced through self-pollination of F(1) plants. Evaluation of S(1), F(1), and F(2) generations allowed us to identify a single diallelic locus controlling albinism in these populations of pickerelweed, with albinism completely recessive to normal green leaf production. We propose that this locus be named albino with alleles A and a.

  7. Concordance of visual and structural features between siblings with albinism.

    Science.gov (United States)

    Heinmiller, Laura J; Holleschau, Ann; Summers, C Gail

    2016-02-01

    To evaluate similarities and differences in visual function and ocular structure between siblings with albinism. The medical records of all siblings diagnosed with albinism were retrospectively reviewed. Comparisons were made using examination at oldest age for younger sibling and examination closest to that age for older siblings. A total of 111 patients from 54 families were studied. Mean age was 12.9 years (range, 2 months to 44.2 years). Mean difference in ages between sibling pair examinations was 11.5 months (range, 0-87 months). Of 45 families, best-corrected visual acuity was equal in 9 (20%), within 1/2 octave in 9 (20%), >1/2 but albinism should be counseled with due caution because visual function is often disparate despite similar structural findings. Copyright © 2016 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

  8. First report of partial albinism in genus Thrichomys (Rodentia: Echimyidae

    Directory of Open Access Journals (Sweden)

    Antonio Carlos da S.A. Neves

    2014-01-01

    Full Text Available Reports about albinism in rodents are common. In the family Echimyidae, however, albinism is very rare. This is the second case of coat color variation reported within Echimyidae and the first for the genus Thrichomys. The pelages of Thrichomys pachyurus individuals with normal and variant coat color were observed under a fluorescent artificial light and were examined with a stereoscopic microscope. The descriptions of pelage color were based on the book "Color Standards and Color Nomenclature". The predominantly white pattern of coat color in individuals of T. pachyurus suggests a partial albinism caused by delay in migration time of melanoblasts from neural crest to epidermis. The habitat of T. pachyurus has a heavy vegetative cover, which offers natural protection against predators and high-quality nutrition.

  9. Brown oculocutaneous albinism is allelic to tyrosinase-positive oculocutaneous albinism in southern African Negroids

    Energy Technology Data Exchange (ETDEWEB)

    Manga, P.; Ramsay, M.; Kromberg, J.; Jenkins, T. [Univ. of the Witwatersrand, Johannesburg (South Africa)

    1994-09-01

    Brown oculocutaneous albinism (BOCA) is an autosomal recessive disorder involving a decrease in pigment of the skin, hair and eyes as well as decreased visual acuity. Evidence from two families who have co-existent BOCA and tyrosinase-positive oculocutaneous albinism (ty-pos OCA), suggests that the two conditions are allelic. Ty-pos OCA has been mapped to chromosome 15q11-q12 and the gene has been confirmed to be the human homologue (P) of the mouse pink-eyed dilute gene (p). Seven markers known to be linked to the P gene, D15S11, D15S10, MS14, GABA3, GABA5, IR10 and pCMW-1, were used to construct haplotypes in 5 families with BOCA. The haplotype data was subjected to linkage analysis and a maximum lod score of 2.85 ({theta} 0.0) was obtained. It has been reported previously that BOCA, in an Afro-American, was due to the lack of tyrosinase-protein 1 (Trp-1) in melanocytes. Trp-1 has been excluded as the disease-causing locus in the southern African families by linkage analysis with D9S43. A lod score of -2.02 was obtained at {theta} = 0.02.

  10. Children with albinism in African regions: their rights to 'being' and 'doing'.

    Science.gov (United States)

    Franklin, Anita; Lund, Patricia; Bradbury-Jones, Caroline; Taylor, Julie

    2018-01-12

    Albinism is an inherited condition with a relatively high prevalence in populations throughout sub-Saharan Africa. People with oculocutaneous albinism have little or no pigment in their hair, skin and eyes; thus they are visually impaired and extremely sensitive to the damaging effect of the sun on their skin. Aside from the health implications of oculocutaneous albinism, there are also significant sociocultural risks. The impacts of albinism are particularly serious in areas that associate albinism with legend and folklore, leading to stigmatisation and discrimination. In regions of Africa those with albinism may be assaulted and sometimes killed for their body parts for use in witchcraft-related rites or to make 'lucky' charms. There is a dearth of research on the psychosocial aspects of albinism and particularly on how albinism impacts on the everyday lives of people with albinism. There is a growing recognition and acceptance in Africa that people with albinism should be considered disabled. Thomas's social-relational model of disability proposes it is essential to understand both the socio-structural barriers and restrictions that exclude disabled people (barriers to doing); and the social processes and practices which can negatively affect their psycho-emotional wellbeing (barriers to being). In this article, we combine a social model of disability with discussion on human rights to address the lacuna surrounding the psychosocial and daily experiences of people with albinism. Through using this combined framework we conclude that the rights of people with albinism in some regions of Africa are not being enacted. Our debate highlights the need to develop a holistic concept of rights for children and young people with albinism which sees human rights as indivisible. We illuminate some of the specific ways in which the lives of children with albinism could be improved by addressing 'barriers to being' and 'barriers to doing', at the heart of which requires a

  11. Relationship between foveal cone specialization and pit morphology in albinism.

    Science.gov (United States)

    Wilk, Melissa A; McAllister, John T; Cooper, Robert F; Dubis, Adam M; Patitucci, Teresa N; Summerfelt, Phyllis; Anderson, Jennifer L; Stepien, Kimberly E; Costakos, Deborah M; Connor, Thomas B; Wirostko, William J; Chiang, Pei-Wen; Dubra, Alfredo; Curcio, Christine A; Brilliant, Murray H; Summers, C Gail; Carroll, Joseph

    2014-05-20

    Albinism is associated with disrupted foveal development, though intersubject variability is becoming appreciated. We sought to quantify this variability, and examine the relationship between foveal cone specialization and pit morphology in patients with a clinical diagnosis of albinism. We recruited 32 subjects with a clinical diagnosis of albinism. DNA was obtained from 25 subjects, and known albinism genes were analyzed for mutations. Relative inner and outer segment (IS and OS) lengthening (fovea-to-perifovea ratio) was determined from manually segmented spectral domain-optical coherence tomography (SD-OCT) B-scans. Foveal pit morphology was quantified for eight subjects from macular SD-OCT volumes. Ten subjects underwent imaging with adaptive optics scanning light ophthalmoscopy (AOSLO), and cone density was measured. We found mutations in 22 of 25 subjects, including five novel mutations. All subjects lacked complete excavation of inner retinal layers at the fovea, though four subjects had foveal pits with normal diameter and/or volume. Peak cone density and OS lengthening were variable and overlapped with that observed in normal controls. A fifth hyper-reflective band was observed in the outer retina on SD-OCT in the majority of the subjects with albinism. Foveal cone specialization and pit morphology vary greatly in albinism. Normal cone packing was observed in the absence of a foveal pit, suggesting a pit is not required for packing to occur. The degree to which retinal anatomy correlates with genotype or visual function remains unclear, and future examination of larger patient groups will provide important insight on this issue. Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc.

  12. TYPES OF ALBINISM IN THE BLACK SOUTHERN AFRICA POPULATION.

    Science.gov (United States)

    Kromberg, J G R; Bothwell, J; Kidson, S H; Manga, P; Kerr, R; Jenkins, T

    2012-01-01

    Oculocutaneous albinism (OCA) is the most common inherited disorder in Southern African blacks and several types have been described. Molecular techniques, where available, can be used to confirm a clinical diagnosis and the type of OCA, if necessary, and for prenatal diagnosis. To investigate and classify the different types of albinism commonly found and to determine the clinical implications for each type. A descriptive survey. Gauteng province, South Africa, and Lesotho. Three groups of subjects with OCA (96 from a genetics clinic, 62 from a dermatology clinic, and 31 from community surveys) from the black African population participated. Subjects underwent clinical and/or dermatological examinations and were then classified according to type of OCA. Four forms of OCA were identified: most (82%) subjects had OCA2 (a tyrosinase- positive type) with three sub-types: those without large freckles (ephelides) on exposed areas (named OCA 2a in this study), those with such freckles (named OCA 2b), and those with brown albinism (BOCA); the remainder had red/rufous albinism, ROCA (OCA 3). The four forms could be distinguished from each other clinically without using molecular genetic testing. The most common types of albinism found in the black population of Southern Africa are OCA2 and OCA3. Given the high prevalence of the disorder, together with the high risk of skin cancer, and the recent persecution of affected individuals in certain East African countries, these findings and their clinical implications have significance in terms of both education and awareness for health professionals and lay people caring for those with albinism.

  13. Relationship Between Foveal Cone Specialization and Pit Morphology in Albinism

    Science.gov (United States)

    Wilk, Melissa A.; McAllister, John T.; Cooper, Robert F.; Dubis, Adam M.; Patitucci, Teresa N.; Summerfelt, Phyllis; Anderson, Jennifer L.; Stepien, Kimberly E.; Costakos, Deborah M.; Connor, Thomas B.; Wirostko, William J.; Chiang, Pei-Wen; Dubra, Alfredo; Curcio, Christine A.; Brilliant, Murray H.; Summers, C. Gail; Carroll, Joseph

    2014-01-01

    Purpose. Albinism is associated with disrupted foveal development, though intersubject variability is becoming appreciated. We sought to quantify this variability, and examine the relationship between foveal cone specialization and pit morphology in patients with a clinical diagnosis of albinism. Methods. We recruited 32 subjects with a clinical diagnosis of albinism. DNA was obtained from 25 subjects, and known albinism genes were analyzed for mutations. Relative inner and outer segment (IS and OS) lengthening (fovea-to-perifovea ratio) was determined from manually segmented spectral domain-optical coherence tomography (SD-OCT) B-scans. Foveal pit morphology was quantified for eight subjects from macular SD-OCT volumes. Ten subjects underwent imaging with adaptive optics scanning light ophthalmoscopy (AOSLO), and cone density was measured. Results. We found mutations in 22 of 25 subjects, including five novel mutations. All subjects lacked complete excavation of inner retinal layers at the fovea, though four subjects had foveal pits with normal diameter and/or volume. Peak cone density and OS lengthening were variable and overlapped with that observed in normal controls. A fifth hyper-reflective band was observed in the outer retina on SD-OCT in the majority of the subjects with albinism. Conclusions. Foveal cone specialization and pit morphology vary greatly in albinism. Normal cone packing was observed in the absence of a foveal pit, suggesting a pit is not required for packing to occur. The degree to which retinal anatomy correlates with genotype or visual function remains unclear, and future examination of larger patient groups will provide important insight on this issue. PMID:24845642

  14. Chromatophore distribution and inferior performance of albino Japanese flounder Paralichthys olivaceus with special reference to different chromatophore expression between albinism and pseudo-albinism.

    Science.gov (United States)

    Shikano, Takahito; Shimada, Yukinori; Nakamura, Aiko

    2007-05-01

    Albinism with a large variation in body color was found in a hatchery population of Japanese flounder. In addition to albinism, ambicoloration and pseudo-albinism were simultaneously observed in some individuals. Albinos had a remarkably lower number of melanophores on the scales of ocular side than wild-type individuals did, although no significant difference was observed in the numbers of xanthophores and iridophores. The intensity of body color significantly correlated with the number of melanophores among the albinos. No significant differences were observed in the intensity of body color and the number of melanophores between the ocular side and the ambicoloration area. Pseudo-albinism was accompanied by the reductions of melanophores and xanthophores, indicating the different expression patterns of chromatophores between albinism and pseudo-albinism. The combined effects of albinism and pseudo-albinism caused the disappearances of melanophores and xanthophores in the pseudo-albinism area of albinos. In addition to chromatophores, the different characteristics of several phenotypic traits were observed between albinos and wild-type individuals. Growth-related traits of the albinos were inferior to those of the wild-type individuals. Furthermore, the albinos had a larger pseudo-albinism area and a higher vertebral deformed rate than the wild-type individuals did. Individual multilocus heterozygosity and inbreeding coefficient measured by microsatellite loci did not show any indication that the albinos had higher inbreeding coefficient than the wild-type individuals did. This study demonstrated the expression patterns of chromatophores in the body color abnormalities of a flatfish species and the potential pleiotropic effects of an albinism gene on some phenotypic traits.

  15. Colour discrimination against persons with albinism in South Africa

    African Journals Online (AJOL)

    2013-06-26

    Jun 26, 2013 ... group in society, discrimination against them is simply overlooked and unreported. Discussion relating to ... black have had harmful outcomes for persons with darker skin tones. [5]. The same extends to persons .... albinism as white or African (or African-American) does not afford them adequate protection.

  16. Clinico-epidemiologic features of oculocutaneous albinism in ...

    African Journals Online (AJOL)

    Alaaeldin F. Mohamed

    Clinico-epidemiologic features of oculocutaneous albinism in northeast section of Cairo – Egypt. Alaaeldin F. Mohamed a. , Nermine S. El-Sayed a,. *, Neveen S. Seifeldin b a Medical Genetics Center, Ain Shams University, Egypt b Dermatology Department, Ain Shams University, Egypt. Received 30 January 2010; ...

  17. Colour discrimination against persons with albinism in South Africa ...

    African Journals Online (AJOL)

    This article explores issues relating to discrimination against persons living with albinism, against the background of colour discrimination. It also addresses calls for 'colourism' to be recognised as a distinct form of discrimination. Although colour as grounds for discrimination is prohibited in the equality clause of the ...

  18. Types of albinism in the black Southern Africa population | Kromberg ...

    African Journals Online (AJOL)

    Background: Oculocutaneous albinism (OCA) is the most common inherited disorder in Southern African blacks and several types have been described. Molecular techniques, where available, can be used to confirm a clinical diagnosis and the type of OCA, if necessary, and for prenatal diagnosis. Objectives: To investigate ...

  19. Refractive errors in Cameroonians diagnosed with complete oculocutaneous albinism

    Directory of Open Access Journals (Sweden)

    Eballé AO

    2013-07-01

    Full Text Available André Omgbwa Eballé1,3, Côme Ebana Mvogo2, Christelle Noche4, Marie Evodie Akono Zoua2, Andin Viola Dohvoma21Faculty of Medicine and Pharmaceutical Sciences, University of Douala, Douala, Cameroon, 2Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Yaoundé, Cameroon; 3Yaoundé Gynaeco-obstetric and Paediatric Hospital. Yaoundé, Cameroon; 4Faculty of Medicine, Université des Montagnes. Bangangté, CameroonBackground: Albinism causes significant eye morbidity and amblyopia in children. The aim of this study was to determine the refractive state in patients with complete oculocutaneous albinism who were treated at the Gynaeco-Obstetric and Paediatric Hospital, Yaoundé, Cameroon and evaluate its effect on vision.Methods: We carried out this retrospective study at the ophthalmology unit of our hospital. All oculocutaneous albino patients who were treated between March 1, 2003 and December 31, 2011 were included.Results: Thirty-five patients (70 eyes diagnosed with complete oculocutaneous albinism were enrolled. Myopic astigmatism was the most common refractive error (40%. Compared with myopic patients, those with myopic astigmatism and hypermetropic astigmatism were four and ten times less likely, respectively, to demonstrate significant improvement in distance visual acuity following optical correction.Conclusion: Managing refractive errors is an important way to reduce eye morbidity-associated low vision in oculocutaneous albino patients.Keywords: albinism, visual acuity, refraction, Cameroon

  20. Analysis of MC1R variants in Indian oculocutaneous albinism ...

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 92; Issue 2. Analysis of MC1R variants in Indian oculocutaneous albinism patients: highlighting the risk of skin cancer among albinos. Mainak Sengupta Devroop Sarkar Maitreyee Mondal Swapan Samanta Asim Sil Kunal Ray. Research Note Volume 92 Issue 2 August 2013 pp ...

  1. [Suspected pathogenic mutation identified in two cases with oculocutaneous albinism].

    Science.gov (United States)

    He, Jiangmei; Zheng, Meiling; Zhang, Guilin; Hua, Ailing

    2015-08-01

    To detect potential mutations in genes related with non-syndromic oculocutaneous albinism I-IV and ocular albinism type I in two couples who had given births to children with albinism. All exons of the non-syndromic albinism related genes TYR, OCA2, TYRP-1, MITF, SLC45A2 and GPR143 were subjected to deep sequencing. The results were verified with Sanger sequencing. For the two female carriers, the coding region of the TYR gene was found to harbor a frameshift mutation c.925_926insC, which was also suspected to have been pathogenic. In one of the male partners, a nonsense mutations c.832C>T was found, which was also known to be pathogenic. Another male partner was found to harbor a TYR gene mutation c.346C>T, which was also known to be a pathogenic nonsense mutation. The coding region of the TYR gene c.925_926insC (p.Thr309ThrfsX9) probably underlies the OCA1 disease phenotype.

  2. Premolarized double dens in dente in albinism - A case report

    Directory of Open Access Journals (Sweden)

    Suprabha B

    2005-09-01

    Full Text Available Dens in dente are known to be associated with many dental abnormalities such as taurodontism microdontia, gemination, and dens evaginatus. This paper describes a rare case of double dens in dente in a lateral incisor with crown morphology similar to a premolar present in a patient with features of albinism. Problems associated with this condition and their management is discussed.

  3. Psychiatric Morbidity among Subjects with Leprosy and Albinism in ...

    African Journals Online (AJOL)

    Background: Skin, which is the largest organ in the body, carries immense psychological significance. Disfiguring skin disorders may impact negatively on the mental health of individuals. Aim: This study compared the psychiatric morbidity of subjects with leprosy and albinism. Subjects and Methods: One hundred subjects ...

  4. Albinism in Botswana Junior Secondary Schools: A Double Case Study

    Science.gov (United States)

    Dart, Gareth; Nkanotsang, Tiroyaone; Chizwe, Ose; Kowa, Lily

    2010-01-01

    Pupils with albinism potentially face a number of challenges in accessing quality education in schools in Botswana. Physical issues such as poor eyesight related to the condition and the problems of sensitive skin in such a dry and warm climate are both contributing factors to making learning problematic for some pupils. This study by Gareth Dart…

  5. Changes in brain morphology in albinism reflect reduced visual acuity.

    Science.gov (United States)

    Bridge, Holly; von dem Hagen, Elisabeth A H; Davies, George; Chambers, Claire; Gouws, Andre; Hoffmann, Michael; Morland, Antony B

    2014-07-01

    Albinism, in humans and many animal species, has a major impact on the visual system, leading to reduced acuity, lack of binocular function and nystagmus. In addition to the lack of a foveal pit, there is a disruption to the routing of the nerve fibers crossing at the optic chiasm, resulting in excessive crossing of fibers to the contralateral hemisphere. However, very little is known about the effect of this misrouting on the structure of the post-chiasmatic visual pathway, and the occipital lobes in particular. Whole-brain analyses of cortical thickness in a large cohort of subjects with albinism showed an increase in cortical thickness, relative to control subjects, particularly in posterior V1, corresponding to the foveal representation. Furthermore, mean cortical thickness across entire V1 was significantly greater in these subjects compared to controls and negatively correlated with visual acuity in albinism. Additionally, the group with albinism showed decreased gyrification in the left ventral occipital lobe. While the increase in cortical thickness in V1, also found in congenitally blind subjects, has been interpreted to reflect a lack of pruning, the decreased gyrification in the ventral extrastriate cortex may reflect the reduced input to the foveal regions of the ventral visual stream. Copyright © 2012 Elsevier Ltd. All rights reserved.

  6. types of albinism in the black southern africa population

    African Journals Online (AJOL)

    2012-01-01

    Jan 1, 2012 ... with rufous albinism did. In cases where individuals present with an uncharacteristic or intermediate phenotype, the possibility of interplay between different proteins involved in pigment production should not be ignored. Such a situation has been described in. Southern African siblings, presenting with an.

  7. Clinico-epidemiologic features of oculocutaneous albinism in ...

    African Journals Online (AJOL)

    Background: Oculocutaneous albinism (OCA) is a genetically heterogeneous group of disorders characterized by the absence or reduced pigmentation of the skin, hair and eyes. To assess the clinico-epidemiologic features of different forms of OCA among Egyptian patients, we performed a retrospective study to determine ...

  8. A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

    OpenAIRE

    Giebel, L B; Strunk, K M; King, R A; Hanifin, J M; Spritz, R A

    1990-01-01

    We have identified a tyrosinase gene mutation in several patients with classic, tyrosinase-negative (type IA) oculocutaneous albinism. This mutation, which results in a proline----leucine substitution at codon 81 of the tyrosinase polypeptide (EC 1.14.18.1), was observed in 20% (6 of 30) of oculocutaneous albinism alleles from independent probands, but it was not observed in any normal individuals. This mutation thus appears to be a frequent cause of tyrosinase-negative oculocutaneous albinism.

  9. Being black in a white skin: Beliefs and stereotypes around albinism at a South African university.

    Science.gov (United States)

    Phatoli, Relebohile; Bila, Nontembeko; Ross, Eleanor

    2015-01-01

    Background: Partly because of the legacy of apartheid, and despite being a constitutional democracy, South Africa continues to be a deeply divided society, particularly along racial lines. In this context many people with albinism do not fit neatly into black and white categories and are likely to experience social discrimination and marginalisation. Objectives: The study endeavoured to explore the beliefs and practices regarding albinism within a South African university, and the availability of support services. Method: The research was located within an interpretive qualitative paradigm and was framed within the theories of stigma, discrimination and 'othering'. Interviews were conducted with five students with albinism and 10 students without albinism. Results: Findings confirmed the existence of myths and stereotypes regarding albinism. Students with albinism tended to exclude themselves from the rest of the student community to avoid discrimination and stereotypes around their condition. Conclusion: People with albinism can teach us about social constructions of race, colour and relations between minority groups and the majority culture. Results have implications for schools, disability units at universities, and albinism societies in terms of opening up channels of communication between people with albinism and the general public and fostering knowledge and awareness thereof.

  10. Being black in a white skin: Beliefs and stereotypes around albinism at a South African university

    Science.gov (United States)

    Phatoli, Relebohile; Bila, Nontembeko

    2015-01-01

    Background: Partly because of the legacy of apartheid, and despite being a constitutional democracy, South Africa continues to be a deeply divided society, particularly along racial lines. In this context many people with albinism do not fit neatly into black and white categories and are likely to experience social discrimination and marginalisation. Objectives: The study endeavoured to explore the beliefs and practices regarding albinism within a South African university, and the availability of support services. Method: The research was located within an interpretive qualitative paradigm and was framed within the theories of stigma, discrimination and ‘othering’. Interviews were conducted with five students with albinism and 10 students without albinism. Results: Findings confirmed the existence of myths and stereotypes regarding albinism. Students with albinism tended to exclude themselves from the rest of the student community to avoid discrimination and stereotypes around their condition. Conclusion: People with albinism can teach us about social constructions of race, colour and relations between minority groups and the majority culture. Results have implications for schools, disability units at universities, and albinism societies in terms of opening up channels of communication between people with albinism and the general public and fostering knowledge and awareness thereof. PMID:28730019

  11. Being black in a white skin: Beliefs and stereotypes around albinism at a South African university

    Directory of Open Access Journals (Sweden)

    Relebohile Phatoli

    2015-02-01

    Full Text Available Background: Partly because of the legacy of apartheid, and despite being a constitutional democracy, South Africa continues to be a deeply divided society, particularly along racial lines. In this context many people with albinism do not fit neatly into black and white categories and are likely to experience social discrimination and marginalisation.Objectives: The study endeavoured to explore the beliefs and practices regarding albinism within a South African university, and the availability of support services. Method: The research was located within an interpretive qualitative paradigm and was framed within the theories of stigma, discrimination and ‘othering’. Interviews were conducted with five students with albinism and 10 students without albinism. Results: Findings confirmed the existence of myths and stereotypes regarding albinism. Students with albinism tended to exclude themselves from the rest of the student community to avoid discrimination and stereotypes around their condition. Conclusion: People with albinism can teach us about social constructions of race, colour and relations between minority groups and the majority culture. Results have implications for schools, disability units at universities, and albinism societies in terms of opening up channels of communication between people with albinism and the general public and fostering knowledge and awareness thereof.

  12. The Effects of the Physical Features Associated with Albinism on the Self-Esteem of African American Youths.

    Science.gov (United States)

    Gold, Moniqueka E.

    2002-01-01

    This study explored the effects of the physical features associated with albinism on three groups of African American youths (ages 14-19) with albinism: those with no disabilities, those with visual impairments, and those with oculocutaneous albinism. No significant differences in self-esteem were found among the three groups. (Contains…

  13. Mutational analysis of oculocutaneous albinism: a compact review.

    Science.gov (United States)

    Kamaraj, Balu; Purohit, Rituraj

    2014-01-01

    Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by either complete lack of or a reduction of melanin biosynthesis in the melanocytes. The OCA1A is the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3, and OCA4 show some pigment accumulation over time. Mutations in TYR, OCA2, TYRP1, and SLC45A2 are mainly responsible for causing oculocutaneous albinism. Recently, two new genes SLC24A5 and C10orf11 are identified that are responsible to cause OCA6 and OCA7, respectively. Also a locus has been mapped to the human chromosome 4q24 region which is responsible for genetic cause of OCA5. In this paper, we summarized the clinical and molecular features of OCA genes. Further, we reviewed the screening of pathological mutations of OCA genes and its molecular mechanism of the protein upon mutation by in silico approach. We also reviewed TYR (T373K, N371Y, M370T, and P313R), OCA2 (R305W), TYRP1 (R326H and R356Q) mutations and their structural consequences at molecular level. It is observed that the pathological genetic mutations and their structural and functional significance of OCA genes will aid in development of personalized medicine for albinism patients.

  14. Mutational Analysis of Oculocutaneous Albinism: A Compact Review

    Directory of Open Access Journals (Sweden)

    Balu Kamaraj

    2014-01-01

    Full Text Available Oculocutaneous albinism (OCA is an autosomal recessive disorder caused by either complete lack of or a reduction of melanin biosynthesis in the melanocytes. The OCA1A is the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3, and OCA4 show some pigment accumulation over time. Mutations in TYR, OCA2, TYRP1, and SLC45A2 are mainly responsible for causing oculocutaneous albinism. Recently, two new genes SLC24A5 and C10orf11 are identified that are responsible to cause OCA6 and OCA7, respectively. Also a locus has been mapped to the human chromosome 4q24 region which is responsible for genetic cause of OCA5. In this paper, we summarized the clinical and molecular features of OCA genes. Further, we reviewed the screening of pathological mutations of OCA genes and its molecular mechanism of the protein upon mutation by in silico approach. We also reviewed TYR (T373K, N371Y, M370T, and P313R, OCA2 (R305W, TYRP1 (R326H and R356Q mutations and their structural consequences at molecular level. It is observed that the pathological genetic mutations and their structural and functional significance of OCA genes will aid in development of personalized medicine for albinism patients.

  15. Management of visual disturbances in albinism: a case report

    Directory of Open Access Journals (Sweden)

    Omar Rokiah

    2012-09-01

    Full Text Available Abstract Introduction A number of vision defects have been reported in association with albinism, such as photophobia, nystagmus and astigmatism. In many cases only prescription sunglasses are prescribed. In this report, the effectiveness of low-vision rehabilitation in albinism, which included prescription of multiple visual aids, is discussed. Case presentation We present the case of a 21-year-old Asian woman with albinism and associated vision defects. Her problems were blurring of distant vision, glare and her dissatisfaction with her current auto-focus spectacle-mounted telescope device, which she reported as being heavy as well as cosmetically unacceptable. We describe how low-vision rehabilitation using multiple visual aids, namely spectacles, special iris-tinted contact lenses with clear pupils, and bi-level telemicroscopic apparatus devices improved her quality of life. Subsequent to rehabilitation our patient is happier and continues to use the visual aids. Conclusions Contact lenses with a special iris tint and clear pupil area are useful aids to reduce the glare experienced by albinos. Bi-level telemicroscopic apparatus telemicroscopes fitted onto our patient’s prescription spectacles were cosmetically acceptable and able to improve her distance vision. As a result these low-vision rehabilitation approaches improved the quality of life of our albino patient.

  16. Nystagmus Does Not Limit Reading Ability in Albinism.

    Directory of Open Access Journals (Sweden)

    Muriel Dysli

    Full Text Available Subjects with albinism usually suffer from nystagmus and reduced visual acuity, which may impair reading performance. The contribution of nystagmus to decreased reading ability is not known. Low vision and nystagmus may have an additive effect. We aimed to address this question by motion compensation of the nystagmus in affected subjects and by simulating nystagmus in healthy controls.Reading speed and eye movements were assessed in 9 subjects with nystagmus associated with albinism and in 12 healthy controls. We compared the reading ability with steady word presentation and with words presented on a gaze contingent display where words move in parallel to the nystagmus and thus correct for the nystagmus. As the control, healthy subjects were asked to read words and texts in steady reading conditions as well as text passages that moved in a pattern similar to nystagmus.Correcting nystagmus with a gaze contingent display neither improved nor reduced the reading speed for single words. Subjects with nystagmus and healthy participants achieved comparable reading speed when reading steady texts. However, movement of text in healthy controls caused a significantly reduced reading speed and more regressive saccades.Our results argue against nystagmus as the rate limiting factor for reading speed when words were presented in high enough magnification and support the notion that other sensory visual impairments associated with albinism (for example reduced visual acuity might be the primary causes for reading impairment.

  17. Nystagmus Does Not Limit Reading Ability in Albinism

    Science.gov (United States)

    Dysli, Muriel; Abegg, Mathias

    2016-01-01

    Purpose Subjects with albinism usually suffer from nystagmus and reduced visual acuity, which may impair reading performance. The contribution of nystagmus to decreased reading ability is not known. Low vision and nystagmus may have an additive effect. We aimed to address this question by motion compensation of the nystagmus in affected subjects and by simulating nystagmus in healthy controls. Methods Reading speed and eye movements were assessed in 9 subjects with nystagmus associated with albinism and in 12 healthy controls. We compared the reading ability with steady word presentation and with words presented on a gaze contingent display where words move in parallel to the nystagmus and thus correct for the nystagmus. As the control, healthy subjects were asked to read words and texts in steady reading conditions as well as text passages that moved in a pattern similar to nystagmus. Results Correcting nystagmus with a gaze contingent display neither improved nor reduced the reading speed for single words. Subjects with nystagmus and healthy participants achieved comparable reading speed when reading steady texts. However, movement of text in healthy controls caused a significantly reduced reading speed and more regressive saccades. Conclusions Our results argue against nystagmus as the rate limiting factor for reading speed when words were presented in high enough magnification and support the notion that other sensory visual impairments associated with albinism (for example reduced visual acuity) might be the primary causes for reading impairment. PMID:27391149

  18. Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype.

    Science.gov (United States)

    Wallis, C E; Beighton, P H

    1989-01-01

    A Chinese girl with oculocutaneous albinism has the Prader-Willi syndrome and a normal karyotype. This association emphasises the importance of further molecular study of the 15(q12) region of the genome in the search for the locus of an albinism gene. Images PMID:2732995

  19. Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype.

    OpenAIRE

    Wallis, C E; Beighton, P H

    1989-01-01

    A Chinese girl with oculocutaneous albinism has the Prader-Willi syndrome and a normal karyotype. This association emphasises the importance of further molecular study of the 15(q12) region of the genome in the search for the locus of an albinism gene.

  20. Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.

    OpenAIRE

    Spritz, R A; Strunk, K M; Hsieh, C L; Sekhon, G S; Francke, U

    1991-01-01

    We have identified a tyrosinase gene mutation in an American black with classic, tyrosinase-negative oculocutaneous albinism. This mutation results in an amino acid substitution (Cys----Arg) at codon 89 of the tyrosinase polypeptide. The proband is homozygous for the substitution, suggesting that this mutation may be frequently associated with tyrosinase-negative oculocutaneous albinism in blacks.

  1. First case of synophthalmia and albinism in the Pacific angel shark Squatina californica.

    Science.gov (United States)

    Escobar-Sánchez, O; Moreno-Sánchez, X G; Aguilar-Cruz, C A; Abitia-Cárdenas, L A

    2014-08-01

    The first record in Mexican waters of albinism and synophthalmia (partial cyclopia) in the Pacific angel shark, Squatina californica is presented. Albinism is not lethal, but synophthalmia may cause the death of the individual immediately after birth. © 2014 The Fisheries Society of the British Isles.

  2. Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

    NARCIS (Netherlands)

    Poulter, James A.; Al-Araimi, Musallam; Conte, Ivan; van Genderen, Maria M.; Sheridan, Eamonn; Carr, Ian M.; Parry, David A.; Shires, Mike; Carrella, Sabrina; Bradbury, John; Khan, Kamron; Lakeman, Phillis; Sergouniotis, Panagiotis I.; Webster, Andrew R.; Moore, Anthony T.; Pal, Bishwanath; Mohamed, Moin D.; Venkataramana, Anandula; Ramprasad, Vedam; Shetty, Rohit; Saktivel, Murugan; Kumaramanickavel, Govindasamy; Tan, Alex; Mackey, David A.; Hewitt, Alex W.; Banfi, Sandro; Ali, Manir; Inglehearn, Chris F.; Toomes, Carmel

    2013-01-01

    Foveal hypoplasia and optic nerve misrouting are developmental defects of the visual pathway and only co-occur in connection with albinism; to date, they have only been associated with defects in the melanin-biosynthesis pathway. Here, we report that these defects can occur independently of albinism

  3. Refinement of the localization of the X-linked ocular albinism gene

    NARCIS (Netherlands)

    Bergen, A. A.; Zijp, P.; Schuurman, E. J.; Bleeker-Wagemakers, E. M.; Apkarian, P.; van Ommen, G. J.

    1993-01-01

    Although physical and genetic mapping studies assigned the X-linked ocular albinism gene to Xp22.3, the exact gene order in this region is still unclear. We present additional genetic mapping data concerning X-linked ocular albinism that suggests the consensus order Xpter-STS-DXS237-KAL-(OA1,

  4. Albinism in the Great Gray Owl (Strix nebulosa) and other owls

    Science.gov (United States)

    Pentti Alaja; Heimo Mikkola

    1997-01-01

    An incomplete albino Great Gray Owl (Strix nebulosa) was observed in Vesanto and Kajaani, Finland, 1994-1995. The literature pertaining to albinism in owls indicates that total and incomplete albinism has only been reported in 13 different owl species, the Great Gray Owl being the only species with more than five records. Thus six to seven incomplete...

  5. Myths, Stereotypes and Self-Perception: The Impact of Albinism on Self-Esteem

    Science.gov (United States)

    Palmer, Carolyn

    2007-01-01

    Albinism has the potential to affect young people both emotionally and psychologically. Their condition is unique and is surrounded by myths and stereotypes. The unusual appearance of children with oculocutaneous albinism draws attention to them and their vision impairment can impact on their development of social skills and peer relationships. In…

  6. Arrested Development: High-Resolution Imaging of Foveal Morphology in Albinism

    Science.gov (United States)

    McAllister, John T.; Dubis, Adam M.; Tait, Diane M.; Ostler, Shawn; Rha, Jungtae; Stepien, Kimberly E.; Summers, C. Gail; Carroll, Joseph

    2010-01-01

    Albinism, an inherited disorder of melanin biosynthesis, disrupts normal retinal development, with foveal hypoplasia as one of the more commonly associated ocular phenotypes. However the cellular integrity of the fovea in albinism is not well understood – there likely exist important anatomical differences that underlie phenotypic variability within the disease and that also may affect responsiveness to therapeutic intervention. Here, using spectral domain optical coherence tomography (SD-OCT) and adaptive optics (AO) retinal imaging, we obtained high-resolution images of the foveal region in six individuals with albinism. We provide a quantitative analysis of cone density and outer segment elongation demonstrating that foveal cone specialization is variable in albinism. In addition, our data reveal a continuum of foveal pit morphology, roughly aligning with schematics of normal foveal development based on post-mortem analyses. Different albinism subtypes, genetic mutations, and constitutional pigment background likely play a role in determining the degree of foveal maturation. PMID:20149815

  7. Surgical challenges and outcomes of rhegmatogenous retinal detachment in albinism.

    Science.gov (United States)

    Sinha, M K; Chhablani, J; Shah, B S; Narayanan, R; Jalali, S

    2016-03-01

    To report the outcomes and surgical difficulties during rhegmatogenous retinal detachment (RRD) repair in patients with albinism. Retrospective analysis of 10 eyes of 9 patients with albinism that underwent RRD repair was performed. Collected data included demographic details, preoperative examination details, surgical procedure, surgical difficulties, anatomical, and visual outcomes. Outcome measures were retinal reattachment and visual acuity at the last follow-up. Mean preoperative best-corrected visual acuity (BCVA) was logMAR (Logarithm of the Minimum Angle of Resolution) 2.15 (range 0.9-3.0) with preoperative localization of causative break in six eyes. One eye had proliferative vitreoretinopathy grade C1 preoperatively. Four eyes underwent scleral buckling (SB) and six underwent 20G pars plana vitrectomy (PPV) with silicone oil injection. Intraoperative complication as iatrogenic retinal break occurred in four eyes. For retinopexy during vitrectomy, endolaser delivery was possible in three out of six eyes, whereas three eyes had cryopexy. The mean follow-up was 12 months in SB group (range 1-12; median 12 months) and 5.33 months (range 1-12; median 3 months) in PPV group. Among vitrectomized eye, two eyes had recurrence at 3 months with oil in situ. Rest of the eyes had attached retina at last follow-up. Mean BCVA at last follow-up was logMAR -1.46 (range 0.7-2.0) with mean improvement of -0.57 logMAR. Identification of break, induction of posterior vitreous detachment, and endolaser delivery may be difficult during RRD repair in patients with albinism. The incidence of PVR appeared less in these eyes. Both SB and PPV were efficacious and appear to be good surgical techniques for use in this patient population.

  8. High frequency of albinism and tumours in free-living birds around Chernobyl.

    Science.gov (United States)

    Møller, A P; Bonisoli-Alquati, A; Mousseau, T A

    2013-09-18

    The effects of radioactive contamination on the phenotype of free-living organisms are poorly understood, mainly because of the difficulty of capturing the large numbers of individual specimens that are required to quantify rare events such as albinism and tumour formation. We hypothesized that the frequency of abnormalities like albinism and the frequency of radiation-induced diseases like cancer would increase with the level of background radiation, that the two markers of radiation would be positively correlated, and that the reduction in abundance of animals would be greater in species with a higher frequency of albinism and tumour formation, if these markers reliably reflected poor viability. Here we analyzed the frequency of albinistic feathers and tumours in a sample of 1669 birds captured during 2010-2012 at eight sites around Chernobyl that varied in level of background radiation from 0.02 to more than 200μSv/h. We recorded 111 cases of partial albinism and 25 cases of tumour formation. Nominal logistic models were used to partition the variance into components due to species and background radiation. Radiation was a strong predictor of the two markers in birds, with a small, but significant effect of species for albinism. The slope of the relationship between abundance and radiation in different bird species was significantly inversely correlated with the frequency of albinism and tumours, as was to be expected if a common underlying cause (i.e. radiation) affects both variables. These findings are consistent with the hypothesis that background radiation is a cause of albinism and tumours, that albinism and tumours are biomarkers of radiation exposure, and that high frequencies of albinism and tumours were present despite the low viability of birds with these conditions. Copyright © 2013 Elsevier B.V. All rights reserved.

  9. Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity.

    Science.gov (United States)

    Lee, Susan; Schimmenti, Lisa A; King, Richard A; Brilliant, Murray; Anderson, Jennifer L; Schoonveld, Cheri; Summers, C Gail

    2015-12-01

    Posterior staphyloma is typically associated with myopic degeneration and has not been recognized as a cause of reduced visual acuity in albinism. We report 3 cases of posterior staphyloma, each with oculocutaneous albinism (OCA) defined by phenotype and genotype. Two cases are biological sisters with OCA type 2; one was myopic and the other was hyperopic. The third case involves a man with OCA associated with Hermansky-Pudlak syndrome (HPS-5). Staphyloma may be another cause of reduced visual acuity in albinism, particularly with increasing age. It may occur in association with myopia or hyperopia. Copyright © 2015 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

  10. Visual deficits in Nepalese patients with oculocutaneous albinism.

    Science.gov (United States)

    Khanal, Safal; Pokharel, Amrit; Kandel, Himal

    2016-01-01

    Albinism poses a significant threat to visual functions and causes remarkable ocular morbidity often resulting in visual disabilities. The study aimed at describing the visual status in patients with diagnosed cases of complete oculocutaneous albinism (OCA) attending to a tertiary eye hospital in Nepal. This was a cross-sectional descriptive hospital-based study of all diagnosed oculocutaneous albinotic cases (16 males and 9 females; mean age of 16 years) who visited the Department of Ophthalmology at the Institute of Medicine, for ocular consultation between September 1, 2011 and December 1, 2013. Twenty-five cases (50 eyes) with OCA were enrolled in the study. All the participants had maximally reduced visual acuity (mean: 1.24±0.50logMAR). Myopic astigmatism was the most common refractive error (n=17; 34%). 58% of all participants had with-the-rule astigmatism. Considering the spherical equivalent power, most of the eyes (n=30; 60%) had myopia, with overall mean SE refractive error of -1.59±5.39D. Visual acuity improved significantly with refractive correction in place (paired sample t-test, palbinism. Copyright © 2014 Spanish General Council of Optometry. Published by Elsevier Espana. All rights reserved.

  11. Visual acuity and nystagmus following strabismus surgery in patients with oculocutaneous albinism.

    Science.gov (United States)

    Villegas, Victor M; Díaz, Lilliam; Emanuelli, Andres; Izquierdo, Natalio J

    2010-12-01

    To evaluate the effect of strabismus surgery on nystagmus and visual acuity in patients with oculocutaneous albinism. We conducted a non-concurrent retrospective study of 13 Puerto Rican patients with all types of oculocutaneous albinism who underwent strabismus surgery. Patients underwent genetic linkage analysis to reach a final oculocutaneous albinism classification prior to surgery. Strabismus surgery was modified by under-correction of 0.5 mm in each muscle from the standard Marshall Parks' measurements in all patients. Six of the 13 patients with oculocutaneous reported an improved best corrected visual acuity after surgery. Two of the 13 patients with oculocutaneous had no nystagmus following strabismus surgery. All patients were orthotropic following surgery. Strabismus surgical undercorrection may be of benefit in patients with oculocutaneous albinism.

  12. Squamous-cell carcinoma in situ in a patient with oculocutaneous albinism.

    Science.gov (United States)

    Berger, Emily; Hunt, Raegan; Tzu, Julia; Patel, Rishi; Sanchez, Miguel

    2011-10-15

    A 36-year-old African man from Guinea with a history of albinism presented with a many-year history of scaling and erythema of the face, neck, and arms. The patient had light eyes, hair, and skin. Physical examination showed extensive photodamage. A skin biopsy specimen from the posterior aspect of the lower leg showed a squamous-cell carcinoma in situ. The most common types of oculocutaneous albinism (OCA), OCA 1 and OCA 2, are autosomal recessive disorders of pigmentation that commonly affect the skin, hair, eyes, and ears. Photodamage and skin cancers plague patients with albinism. In Africa, where albinism is prevalent, albinos face a myriad of social and medical issues. Skin cancer surveillance is an important consideration for albinos, and sun protection is paramount.

  13. Use of a driving simulator to assess performance under adverse weather conditions in adults with albinism.

    Science.gov (United States)

    Hofman, Gwen M; Summers, C Gail; Ward, Nicholas; Bhargava, Esha; Rakauskas, Michael E; Holleschau, Ann M

    2012-04-01

    Participants with albinism have reduced vision and nystagmus with reduced foveation times. This prospective study evaluated driving in 12 participants with albinism and 12 matched controls. Participants drove a vehicle simulator through a virtual rural course in sunny and foggy conditions. Under sunny conditions, participants with albinism showed a narrower preferred minimum safety boundary during car-following tasks than did controls, but there was no difference under foggy conditions. Their driving did not differ significantly from that of controls when approaching a stop sign or when choosing gap size between oncoming vehicles when crossing an intersection. However, when compared to control drivers, participants with albinism had a decreased minimum safety boundary for car-following that should be included in counseling regarding driving safety.

  14. X mapping in man: evidence against direct measurable linkage between ocular albinism and deutan colour blindness.

    Science.gov (United States)

    Pearce, W G; Sanger, R

    1976-01-01

    A Newfoundland kindred in which ocular albinism and deutan colour blindness are segregating provides strong evidence against the loci for these two X-borne characters being within direct measurable distance of each other. PMID:1085370

  15. Chiasmal coefficient of flash and pattern visual evoked potentials for detection of chiasmal misrouting in albinism

    NARCIS (Netherlands)

    Pott, JWR; Jansonius, NM; Kooijman, AC

    The diagnosis of albinism can be confirmed by electrophysiological examination, when chiasmal misrouting can be demonstrated. The present study describes a quantitative analysis method for this purpose. A chiasmal coefficient (CC) was calculated by correlating the differential potential over left

  16. Diagnostic potential of iris cross-sectional imaging in albinism using optical coherence tomography.

    Science.gov (United States)

    Sheth, Viral; Gottlob, Irene; Mohammad, Sarim; McLean, Rebecca J; Maconachie, Gail D E; Kumar, Anil; Degg, Christopher; Proudlock, Frank A

    2013-10-01

    To characterize in vivo anatomic abnormalities of the iris in albinism compared with healthy controls using anterior segment optical coherence tomography (AS-OCT) and to explore the diagnostic potential of this technique for albinism. We also investigated the relationship between iris abnormalities and other phenotypical features of albinism. Prospective cross-sectional study. A total of 55 individuals with albinism and 45 healthy controls. We acquired 4.37×4.37-mm volumetric scans (743 A-scans, 50 B-scans) of the nasal and temporal iris in both eyes using AS-OCT (3-μm axial resolution). Iris layers were segmented and thicknesses were measured using ImageJ software. Iris transillumination grading was graded using Summers and colleagues' classification. Retinal OCT, eye movement recordings, best-corrected visual acuity (BCVA), visual evoked potential (VEP), and grading of skin and hair pigmentation were used to quantify other phenotypical features associated with albinism. Iris AS-OCT measurements included (1) total iris thickness, (2) stroma/anterior border (SAB) layer thickness, and (3) posterior epithelial layer (PEL) thickness. Correlation with other phenotypical measurements, including (1) iris transillumination grading, (2) retinal layer measurements at the fovea, (3) nystagmus intensity, (4) BCVA, (5) VEP asymmetry, (6) skin pigmentation, and (7) hair pigmentation (of head hair, lashes, and brows). The mean iris thickness was 10.7% thicker in controls (379.3 ± 44.0 μm) compared with the albinism group (342.5 ± 52.6 μm; P>0.001), SAB layers were 5.8% thicker in controls (315.1 ± 43.8 μm) compared with the albinism group (297.7 ± 50.0 μm; P=0.044), and PEL was 44.0% thicker in controls (64.1 ± 11.7 μm) compared with the albinism group (44.5 ± 13.9 μm; Palbinism. Phenotypic features of albinism, such as skin and hair pigmentation, BCVA, and nystagmus intensity, were significantly correlated to AS-OCT iris thickness measurements. We have

  17. Visual evoked potentials in Negro carriers of the gene for tyrosinase positive oculocutaneous albinism.

    Science.gov (United States)

    Castle, D; Kromberg, J; Kowalsky, R; Moosa, R; Gillman, N; Zwane, E; Fritz, V

    1988-01-01

    Visual evoked potential testing was performed on 15 Negro carriers of the gene for tyrosinase positive oculocutaneous albinism in order to detect whether they have the same visual pathway decussation anomalies as do homozygotes. No subject showed 01-02 asymmetry on monocular testing, indicating that decussation follows the normal pattern. It is concluded that visual evoked potential testing is probably not useful in the detection of Negroes heterozygous for the gene for tyrosinase positive oculocutaneous albinism. PMID:3148727

  18. Oral medicine case book 51: actinic cheilitis in a patient with oculocutaneous albinism.

    Science.gov (United States)

    Wood, N H; Moodley, A

    2013-07-01

    Patients with oculocutaneous albinism are more prone to sun-induced damage due to the lack of melanin. Actinic cheilitis is a potentially malignant disorder that occurs due to chronic UV-B radiation to the vermillion region of the lip, a region that is already at risk due to its morphology. A case of actinic cheilitis in a patient with oculocutaneous albinism is presented with a literature review.

  19. A cross-sectional examination of visual acuity by specific type of albinism.

    Science.gov (United States)

    Winsor, Caitlin Nosanov; Holleschau, Ann M; Connett, John E; Summers, C Gail

    2016-10-01

    Reports of best-corrected visual acuity (BCVA) in albinism are often based on overlapping clinical phenotypes. BCVA in albinism has been shown to improve with age. This study reports a large cross-sectional investigation to determine whether BCVA differs by specific type of albinism when age-corrected. This retrospective review identified 170 individuals with a specific type of albinism identified by mutation(s) in a gene known to cause albinism (for OCA1, OCA2, and Hermansky-Pudlak syndrome ([HPS]) or a specific phenotype (white hair and no melanin pigment in OCA1A; pigmentary mosaicism in the obligate carriers for males with OA1). We recorded optotype binocular BCVA at final follow-up. Patients were age-grouped (2-5 years, 6-14 years, and ≥15 years) for comparison. The greatest visual acuity deficit was found for OCA1A in all age groups. At age ≥15 years (n = 79), mean BCVA was 20/128 for OCA1A, 20/37 for OCA1B, 20/59 for OCA2, 20/63 for OA1, and 20/121 for HPS. Significant differences between BCVA at ≥15 years were found in the following: OCA1A vs OCA1B, OCA1A vs OCA2, OCA1A vs OA1, OCA1B vs HPS, OCA2 vs HPS, and OA1 vs HPS (P ≤ 0.02). This study provides a large sample size and includes only those with a specific type of albinism. BCVA varies by albinism type, and there is overlap in BCVA, particularly in the younger age groups. For ages ≥15 years, there are significant differences in BCVA between several types of albinism. Copyright © 2016 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

  20. Psychiatric Morbidity among Subjects with Leprosy and Albinism in South East Nigeria: A Comparative Study

    Science.gov (United States)

    Attama, CM; Uwakwe, R; Onyeama, GM; Igwe, MN

    2015-01-01

    Background: Skin, which is the largest organ in the body, carries immense psychological significance. Disfiguring skin disorders may impact negatively on the mental health of individuals. Aim: This study compared the psychiatric morbidity of subjects with leprosy and albinism. Subjects and Methods: One hundred subjects with leprosy and 100 with albinism were interviewed. Sociodemographic questionnaire and General Health Questionnaire (GHQ-28) assessed the sociodemographic characteristics and psychiatric morbidity, respectively. GHQ positive cases and 10% of noncases for each group were interviewed with Mini International Neuropsychiatric Inventory for specific ICD-10 diagnoses. Results: Fifty-five percent (55/100) subjects with leprosy were GHQ positive cases while 41% (41/100) with albinism were GHQ positive cases. The risk of developing psychiatric morbidity was significantly higher in subjects with leprosy than in subjects with albinism (OR = 1.76, CI = 1.00 – 3.08, P = 0.04). The prevalence of specific psychiatric disorders among subjects with leprosy were depression 49% (49/100), generalized anxiety disorder (GAD) 18% (18/100), alcohol/drug abuse 16% (16/100), whereas in albinism depression was 51% (51/100), GAD 27% (27/100), and alcohol/drug abuse 7% (7/100). Male, married and uneducated subjects with leprosy had significantly higher psychiatric morbidity than the male, married and uneducated subjects with albinism, respectively. Conclusion: Psychiatric morbidity was higher in subjects with leprosy than in subjects with albinism. Male, married and uneducated subjects with leprosy significantly had higher morbidity than male, married and uneducated subjects with albinism respectively. PMID:26097762

  1. Childhood autism in a 13 year old boy with oculocutaneous albinism: a case report

    Science.gov (United States)

    Bakare, Muideen O; Ikegwuonu, Nkeiruka N

    2008-01-01

    Introduction Hypomelanotic skin disorders like tuberous sclerosis and hypomelanosis of Ito that present with multiple systemic manifestations have been reported in association with childhood autism. Oculocutaneous albinism is another hypomelanotic skin disorder that rarely presents with multiple systemic manifestations. It is infrequently reported in association with childhood autism when compared to tuberous sclerosis and hypomelanosis of Ito. Case presentation This article reports a case of co-morbid childhood autism and oculocutaneous albinism in a 13-year old boy from Nigeria in Sub-Saharan Africa. Conclusion The observation in this case report and in two previous reports which documented association between oculocutaneous albinism and childhood autism both in the affected individuals and families of individuals with childhood autism, raises the question of a possible genetic and clinical association between oculocutaneous albinism and childhood autism. More family and genetic studies into the relationship between oculocutaneous albinism and childhood autism is desirable. This may provide useful clues into the etiology, prevention and management of childhood autism as well as oculocutaneous albinism. PMID:18294379

  2. Childhood autism in a 13 year old boy with oculocutaneous albinism: a case report

    Directory of Open Access Journals (Sweden)

    Bakare Muideen O

    2008-02-01

    Full Text Available Abstract Introduction Hypomelanotic skin disorders like tuberous sclerosis and hypomelanosis of Ito that present with multiple systemic manifestations have been reported in association with childhood autism. Oculocutaneous albinism is another hypomelanotic skin disorder that rarely presents with multiple systemic manifestations. It is infrequently reported in association with childhood autism when compared to tuberous sclerosis and hypomelanosis of Ito. Case presentation This article reports a case of co-morbid childhood autism and oculocutaneous albinism in a 13-year old boy from Nigeria in Sub-Saharan Africa. Conclusion The observation in this case report and in two previous reports which documented association between oculocutaneous albinism and childhood autism both in the affected individuals and families of individuals with childhood autism, raises the question of a possible genetic and clinical association between oculocutaneous albinism and childhood autism. More family and genetic studies into the relationship between oculocutaneous albinism and childhood autism is desirable. This may provide useful clues into the etiology, prevention and management of childhood autism as well as oculocutaneous albinism.

  3. Experiences of a feasibility study of children with albinism in Zimbabwe: a discussion paper.

    Science.gov (United States)

    Taylor, Julie S; Lund, Patricia

    2008-08-01

    Feasibility studies are often a helpful prelude to constructing fundable research proposals. Where the intended research is in a foreign country, focuses on a vulnerable population, and is aggravated by political and pragmatic challenges, feasibility studies become essential. Albinism, a genetic condition of reduced melanin synthesis, is a major public health issue in southern Africa. Whilst much is known about the health needs of children with albinism, little is understood about how to address these effectively in low income countries. Further, the child care and protection needs of children with albinism are largely unexplored. Zimbabwe's current political and economic climate presents additional challenges to research on the topic. The technical, economic, legal, collaborative, operational, schedule and political feasibilities (acronym TELCOSP) to undertaking a study on children with albinism in Zimbabwe were explored over a six week period of fieldwork in the country. Using the TELSCOSP framework allowed a deconstruction of each challenge to provide innovative solutions. The economic and legal feasibility aspects presented some difficulties that will require flexibility and perseverance to overcome. With the assistance of the local communities and people with albinism in Zimbabwe, the obstacles appear surmountable. The feasibility study provided a productive framework for addressing potential challenges in studying the needs of Zimbabwe's children living with albinism.

  4. Albinism and Developmental Delay: The Need to Test for 15q11–q13 deletion

    Science.gov (United States)

    Saadeh, Reem; Lisi, Emily C.; Batista, Denise A.S.; McIntosh, Iain; Hoover-Fong, Julie E.

    2007-01-01

    We report a 17-month-old African female with cutaneous and ophthalmologic features of oculocutaneous albinism type 2 as well as microcephaly, absent speech, tremulous movements. P gene mutations within the Angelman/Prader-Willi syndrome critical region at 15q11–q13 cause oculocutaneous albinism type 2. Co-morbid oculocutaneous albinism and Angelman syndrome were suspected and confirmed by cytogenetics. Phenotypic features of Angelman syndrome or Prader-Willi syndrome in a patient with albinism should prompt further investigation. PMID:17903679

  5. Indicii microbiologici ai familiilor de albine înaintea iernatului

    Directory of Open Access Journals (Sweden)

    Veronica BUGNEAC

    2017-12-01

    Full Text Available Bee colonies are exposed to a wide variety of actions of the agricultural ecosystem and to a multitude of variations of the environment throughout the year. All these factors can affect the bees’ microbial balance. This study aimed to determine the microflora of bee families before the wintering period. The bees for the research were randomly collected at two apiaries of 17 and 24 bee families. Under laboratory conditions, insemination was performed on common, selective and differential growth media using material of the bees’ intestines. As a result of the investigations, an intensive growth of bacterial colonies was noticed on all microbial culture media. They were predominantly formed by different forms of bacteria such as streptococci, staphylococci, E. coli, Salmonellaand microscopic fungi. Most colonies of microorganisms developed on Endo and Peptonate Agar media, being represented by the microbial colonies of E. coli and streptococci, respectively. Rezumat. Coloniile de albine pe tot parcursul anului sunt expuse la o varietate largă de acțiuni ale ecosiste-melor agricole și la o multitudine de variații ale mediului, care le pot afecta echilibrul microbian. Studiul de faţă îşi propune de a stabili varietatea microflorei familiilor de albine înaintea perioadei de iernat. Albinele pentru cer-cetare au fost colectate în mod aleatoriu de la două stupine, cu 17 şi 24 de familii de albine. În condiții de labora-tor, din intestinele albinelor au fost efectuate însămânțări pe medii nutritive obișnuite, selective și diferențiale. În rezultatul investigațiilor s-a stabilit o creștere intensivă de colonii bacteriene pe toate mediile microbiene nutritive. Acestea au fost constituite preponderent din formele bacteriene precum streptococi, stafilococi, E. coli, salmoneleși fungi microscopici. Cele mai multe colonii de microorganisme s-au dezvoltat pe mediile Endo și Agarul pepto-nat, fiind reprezentate de coloniile

  6. Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism

    Science.gov (United States)

    Manga, Prashiela; Orlow, Seth J.

    2011-01-01

    Oculocutaneous albinism (OCA) is a group of genetic disorders characterized by hypopigmentation of the skin, hair, and eyes. Affected individuals experience reduced visual acuity and substantially increased skin cancer risk. There are four major types of OCA (OCA1–OCA4) that result from disruption in production of melanin from tyrosine. Current treatment options for individuals with OCA are limited to attempts to correct visual problems and counseling to promote use of sun protective measures. However, Onojafe et al., reporting in this issue of the JCI, provide hope for a new treatment approach for OCA, as they demonstrate that treating mice that model OCA-1b with nitisinone, which is FDA approved for treating hereditary tyrosinemia type 1, elevates plasma tyrosine levels, and increases eye and hair pigmentation. PMID:21968107

  7. Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism.

    Science.gov (United States)

    Manga, Prashiela; Orlow, Seth J

    2011-10-01

    Oculocutaneous albinism (OCA) is a group of genetic disorders characterized by hypopigmentation of the skin, hair, and eyes. Affected individuals experience reduced visual acuity and substantially increased skin cancer risk. There are four major types of OCA (OCA1-OCA4) that result from disruption in production of melanin from tyrosine. Current treatment options for individuals with OCA are limited to attempts to correct visual problems and counseling to promote use of sun protective measures. However, Onojafe et al., reporting in this issue of the JCI, provide hope for a new treatment approach for OCA, as they demonstrate that treating mice that model OCA-1b with nitisinone, which is FDA approved for treating hereditary tyrosinemia type 1, elevates plasma tyrosine levels, and increases eye and hair pigmentation.

  8. Molecular analysis of Korean patients with oculocutaneous albinism.

    Science.gov (United States)

    Park, Shin Hae; Chae, Hyojin; Kim, Yonggoo; Kim, Myungshin

    2012-01-01

    To perform molecular analysis of five Korean patients with oculocutaneous albinism (OCA) and review the clinical and genetic characteristics of 21 Korean OCA patients. TYR, OCA2 and SLC45A2 were analyzed by direct DNA sequencing in five unrelated OCA patients who received thorough ophthalmic evaluation. We identified three different TYR mutations in three patients (c.929dupC, R278X, and R52I), among which the latter two had been previously reported in other populations, but are reported here for the first time in a Korean context. In one patient we identified two different mutations of OCA2 [c.1784+1G>A and c.1842G>T (K614N)]. One patient was confirmed to have OCA4 by detecting two SLC45A2 mutations [c.469G>A (D157N) and c.686G>A (C229Y)]. OCA1A (66.7%) was the most common subtype in 21 Korean albinism patients, and 70% of patients were heterozygotes for 2 different mutational alleles. c.929dupC (54.8%) and R77Q (16.1%) were the most frequent mutational alleles of TYR in Koreans. Three mutational alleles, R278X and R52I of the TYR gene and C229Y of the SLC45A2 gene, are added to the mutational spectra of Korean patients with OCA, and we report the first Korean case of OCA2 with the OCA2 gene mutations.

  9. A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4.

    Science.gov (United States)

    Oki, Ryoko; Yamada, Kisaburo; Nakano, Satoko; Kimoto, Kenichi; Yamamoto, Ken; Kondo, Hiroyuki; Kubota, Toshiaki

    2017-02-01

    We report the clinical characteristics of a Japanese family with autosomal dominant oculocutaneous albinism and a SLC45A2 gene mutation. A total of 16 members of a Japanese family with general hypopigmentation and foveal hypoplasia underwent detailed clinical examinations. We evaluated the severity of foveal hypoplasia using spectral-domain optical coherence tomography (SD-OCT) and graded it according to the criteria of Thomas et al. DNA was extracted from 17 family members and used for genome-wide single nucleotide polymorphism genotyping and linkage analysis. Mutational search was performed for the SLC45A2 gene responsible for oculocutaneous albinism type 4 (OCA4). All 16 patients exhibited hypopigmentation of their hair and/or iris. They showed foveal hypoplasia, including 3 patients with grade 1 foveal hypoplasia, 7 with grade 2, and 6 with grade 3. No patient had grade 4 foveal hypoplasia. Optical coherence tomography showed macular ganglion cell complex thinning in the temporal area, and a slight reduction of visual field sensitivity in the centrotemporal area. A maximum multipoint parametric logarithm of the odds (LOD) score of approximately 2.00 to 3.56 was obtained on chromosome 5, spanning approximately 7.2 Mb between rs13187570 and rs395967 that included the SLC45A2 gene. All affected members showed a novel heterozygous variant, c.208T>C (p.Y70H), in the SLC45A2 gene, which supported a diagnosis of OCA4. The present study reports a very rare family with autosomal dominant OCA4 whose diagnosis was confirmed by a mutational analysis. Most family members exhibited mild general hypopigmentation and low-grade foveal hypoplasia.

  10. Phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism.

    Science.gov (United States)

    Dávila, Pedro J; Ulloa-Padilla, Jan P; Izquierdo, Natalio J

    2017-01-01

    To evaluate the benefits of phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism (OCA). The charts of 195 patients with OCA who visited a local eye clinic were reviewed. All of these patients had genetic linkage analysis to establish OCA type. Frequencies and Paired t-test analysis were determined. Of the 195 patients, nine (4.6%) underwent clear cornea phacoemulsification with intraocular lens implantation. Seven of the nine patients with OCA had the Hermansky-Pudlak (HPS) type 1; two had OCA type 1. Pre-operative BCVA of all eyes ranged from 1.0 to 2.3 logMAR with a mean of 1.42 logMAR and a standard deviation of 0.41 logMAR. Post-operative BCVA of all eyes ranged from 1.0 to 1.30 logMAR with a mean of 1.04 logMAR and a standard deviation of 0.10 logMAR. BCVA improved after phacoemulsification surgery and intraocular lens implantation (p = 0.002). Pre-operative astigmatism of all eyes ranged from +0.50 to +5.75 with a mean of +2.25 and a standard deviation of +2.40. Post-operative astigmatism of all eyes ranged from +0.50 to +2.00 with a mean of +1.23 and a standard deviation of +0.42. Astigmatism improved after phacoemulsification surgery and intraocular lens implantation (p = 0.05). Nine patients with OCA who underwent phacoemulsification and intraocular lens implant experienced improved visual acuity and reduced astigmatism post-operatively. These results suggest cataract surgery may improve vision and refractive errors, and thus quality of life, in patients with albinism.

  11. Does levodopa improve vision in albinism? Results of a randomized, controlled clinical trial.

    Science.gov (United States)

    Summers, C Gail; Connett, John E; Holleschau, Ann M; Anderson, Jennifer L; De Becker, Inge; McKay, Brian S; Brilliant, Murray H

    2014-11-01

    Dopamine is an intermediate product in the biosynthesis of melanin pigment, which is absent or reduced in albinism. Animal research has shown that supplying a precursor to dopamine, levodopa, may improve visual acuity in albinism by enhancing neural networks. This study examines the safety and effectiveness of levodopa on best-corrected visual acuity in human subjects with albinism. Prospective, randomized, placebo-controlled, double-masked clinical trial conducted at the University of Minnesota. Forty-five subjects with albinism. Subjects with albinism were randomly assigned to one of three treatment arms: levodopa 0.76 mg/kg with 25% carbidopa, levodopa 0.51 mg/kg with 25% carbidopa, or placebo and followed for 20 weeks, with best-corrected visual acuity measured at enrollment, and at weeks 5, 10, 15, and 20 after enrollment. Side-effects were recorded with a symptom survey. Blood was drawn for genotyping. Side-effects and best-corrected visual acuity 20 weeks after enrolment. All subjects had at least one mutation found in a gene known to cause albinism. Mean age was 14.5 years (range: 3.5 to 57.8 years). Follow up was 100% and compliance was good. Minor side-effects were reported; there were no serious adverse events. There was no statistically significant improvement in best-corrected visual acuity after 20 weeks with either dose of levodopa. Levodopa, in the doses used in this trial and for the time course of administration, did not improve visual acuity in subjects with albinism. © 2014 Royal Australian and New Zealand College of Ophthalmologists.

  12. [An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals].

    Science.gov (United States)

    Sanabria, Diana; Groot, Helena; Guzmán, Julio; Lattig, María Claudia

    2012-06-01

    Oculocutaneus albinism is a pigment-related inherited disorder characterized by hypopigmentation of the skin, hair and eyes, foveal hypoplasia and low vision. To date, 230 mutations in the TYR gene have been reported as responsible for oculocutaneus albinism type 1 worldwide. TYR gene encodes the enzyme tyrosinase involved in the metabolic pathway of melanin synthesis. Mutations were identified in the TYR gene as responsible for oculocutaneous albinism type 1 in five Colombian individuals, and a new ophthalmic system was tested that corrected visual defects and symptoms in a patient with oculocutaneous albinism. Samples were taken from 5 individuals, four of whom belong to a single family, along with a fifth individual not related to the family. Five exons in the TYR gene were sequenced to search for the gene carriers in the family and in the non-related individual. In addition, clinical ophthalmological evaluation and implementation of an new oculo-visual system was undertaken. A G47D and 1379delTT mutation was identified in the family. The unrelated individual carried a compound heterozygote for the G47D and D42N mutations. The oculo-visual corrective system was able to increase visual acuity and to diminish the nystagmus and photophobia. This is the first study in Colombia where albinism mutations are reported. The methods developed will enable future molecular screening studies in Colombian populations.

  13. Genetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family

    Science.gov (United States)

    Pour-Jafari, H; Zamanian, A; Pour-Jafari, B

    2010-01-01

    Background: Oculocutaneous albinism type1 (OCA1) is characterized by the absence of melanin pigmentation. The mutation on TYR gene makes OCA1 as an autosomal recessive genetic disorder. In this study, we delineated the genetic analysis of an Iranian family with four members affected with OCA1. Methods: Clinical exams and paraclinical test were performed for all patients of the case family, also proband, her husband, and her parents. Pedigree chart was drawn too. We extracted the genomic DNA from the leukocytes of seven members of the family. Haplotype analysis at the TYR locus was done and informative microsatellite markers were employed. In order to amplify the entire coding region of the TYR gene, for bidirectional direct sequencing mutation analysis, eight sets of primers were used. Results: Our patients were diagnosed as affected with Oculocutaneous albinism type1a. Analysis of pedigree pattern showed an autosomal recessive inheritance. Analysis with different markers in chromosomes 5, 6, 9, 11 and 15 showed that cause of albinism in our case family was on chromosome 11 (D11S1887 marker was informative). Conclusions: The results offered a more developed method of diagnosis for OCA1 carrier identification and genetic counseling for OCA1 affected families as well; also submit a sample of mutation involved with oculocutaneous albinism in Iran. Genetic analysis is necessary for determining the type of albinism in an individual patient. PMID:23112997

  14. Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings.

    Science.gov (United States)

    Mondal, M; Sengupta, M; Samanta, S; Sil, A; Ray, K

    2012-12-15

    Albinism represents a group of genetic disorders with a broad spectrum of hypopigmentary phenotypes dependent on the genetic background of the patients. Oculocutaneous albinism (OCA) patients have little or no pigment in their eyes, skin and hair, whereas ocular albinism (OA) primarily presents the ocular symptoms, and the skin and hair color may vary from near normal to very fair. Mutations in genes directly or indirectly regulating melanin production are responsible for different forms of albinism with overlapping clinical features. In this study, 27 albinistic individuals from 24 families were screened for causal variants by a PCR-sequencing based approach. TYR, OCA2, TYRP1, SLC45A2, SLC24A5, TYRP2 and SILV were selected as candidate genes. We identified 5 TYR and 3 OCA2 mutations, majority in homozygous state, in 8 unrelated patients including a case of autosomal recessive ocular albinism (AROA). A homozygous 4-nucleotide novel insertion in SLC24A5 was detected in a person showing with extreme cutaneous hypopigmentation. A potential causal variant was identified in the TYRP2 gene in a single patient. Haplotype analyses in the patients carrying homozygous mutations in the classical OCA genes suggested founder effect. This is the first report of an Indian AROA patient harboring a mutation in OCA2. Our results also reveal for the first time that mutations in SLC24A5 could contribute to extreme hypopigmentation in humans. Copyright © 2012 Elsevier B.V. All rights reserved.

  15. Change in visual acuity in albinism in the early school years.

    Science.gov (United States)

    Dijkstal, Johanna M; Cooley, San-San; Holleschau, Ann M; King, Richard A; Summers, C Gail

    2012-01-01

    To determine whether binocular best-corrected visual acuity (B-BCVA) improves in the early school years in patients with albinism and whether this is related to type of albinism, ocular pigment, or appearance of the macula. Patients with albinism seen between 5.5 and 9 years (Visit A) and 9.5 and 14 years of age (Visit B), with visits separated by at least 2.5 years, were included. Type of albinism, B-BCVA, glasses wear, iris pigment and macular transparency grade, and presence or absence of an annular reflex and melanin in the macula were recorded. Mean B-BCVA was 20/84 at Visit A and 20/61 at Visit B (P albinism in the early school years and this observation should be included in counseling. The etiology is unknown but may be related to change in nystagmus, use of precise null point, developmental maturation, and/or some of the ocular characteristics evaluated in this study. Copyright 2012, SLACK Incorporated.

  16. Presence of fusion in albinism after strabismus surgery augmented with botulinum toxin (type a) injection.

    Science.gov (United States)

    Tavakolizadeh, Sepideh; Farahi, Azadeh

    2013-08-01

    It is commonly accepted that albino patients with strabismus rarely achieve binocularity and depth perception after strabismus surgery. The presence of retino-geniculo-cortical misrouting, a hallmark of the visual system in albinism, does not necessarily cause total loss of binocular vision, however, not even in albino patients with strabismus. Recently some degrees of stereopsis were reported in albinism patients with minimal clinical nystagmus, if any, in the absence of strabismus. It is possible that patients with albinism and strabismus have binocular visual potential which appears after strabismus correction and provides appropriate postoperative alignment in the long term. Here we present two cases of clinically diagnosed oculocutaneous albinism, an 18-year-old girl and a 16-year-old boy, both with exotropia ≥40 prism diopter, who gained acceptable alignment and fusion after surgical correction of their strabismus as demonstrated on Bagolini testing. In cases of albinism accompanied by visual pathway abnormalities and strabismus, binocular visual potential is not impossible, and some levels can be expected. Thus, these patients, like other cases of strabismus, may benefit from treatment of strabismus at an earlier age to achieve appropriate alignment, cosmetic satisfaction, and a possibly increased chance of fusion.

  17. Reading skills in children and adults with albinism: the role of visual impairment.

    Science.gov (United States)

    MacDonald, John T; Kutzbach, Beth R; Holleschau, Ann M; Wyckoff, Suzanne; Summers, C Gail

    2012-01-01

    To evaluate whether visual impairment in albinism contributes significantly to the acquisition of normal reading skills. The authors administered standardized reading tests to 41 children and 18 adults with albinism. The Young Children's Achievement Test was used for children between 4 and 6 years old and the Woodcock-Johnson III was used for children 7 years and older and adults. Parents of children and adult subjects also completed a questionnaire to document developmental, academic, and/or work experiences. The Spearman test was used to evaluate the relationship between binocular best-corrected visual acuity (BCVA) and reading test results. Standardized reading tests in both children and adults with albinism showed a normal distribution of scores. BCVA did not appear to play a significant role in the development of normal reading ability in these individuals who were visually impaired except for a mild correlation of decreased reading fluency on the Woodcock-Johnson III with decreased BCVA (r = 0.287, P = .046). Many young children with albinism had superior reading skills despite having a BCVA of 20/200 or worse (legal blindness). This study of cognitively normal children and adults with albinism demonstrates that impaired vision during childhood does not by itself significantly impede a child's ability to acquire normal reading skills. However, the lower reading fluency that occurs in the more visually impaired individuals suggests they would benefit, both in the school system and workplace, with an accommodation involving more time to complete reading tasks. Copyright 2012, SLACK Incorporated.

  18. Case Report Identification of a novel SLC45A2 mutation in albinism by targeted next-generation sequencing.

    Science.gov (United States)

    Xue, J J; Xue, J F; Xue, H Q; Guo, Y Y; Liu, Y; Ouyang, N

    2016-09-19

    Albinism is a diverse group of hypopigmentary disorders caused by multiple-genetic defects. The genetic diagnosis of patients affected with albinism by Sanger sequencing is often complex, expensive, and time-consuming. In this study, we performed targeted next-generation sequencing to screen for 16 genes in a patient with albinism, and identified 21 genetic variants, including 19 known single nucleotide polymorphisms, one novel missense mutation (c.1456 G>A), and one disease-causing mutation (c.478 G>C). The novel mutation was not observed in 100 controls, and was predicted to be a damaging mutation by SIFT and Polyphen. Thus, we identified a novel mutation in SLC45A2 in a Chinese family, expanding the mutational spectrum of albinism. Our results also demonstrate that targeted next-generation sequencing is an effective genetic test for albinism.

  19. Mutations of the tyrosinase gene produce autosomal recessive ocular albinism

    Energy Technology Data Exchange (ETDEWEB)

    King, R.A.; Summers, C.G.; Oetting, W.S. [Univ. of Minnesota, Minneapolis, MN (United States)] [and others

    1994-09-01

    Albinism has historically been divided into ocular (OA) and oculocutaneous (OCA) types based on the presence or absence of clinically apparent skin and hair involvement in an individual with the ocular features of albinism. The major genes for OCA include the tyrosinase gene in OCA1 and the P gene in OCA2. X-linked and autosomal recessive OA have been described and the responsible genes have not been identified. We now present six Caucasian individuals who have the phenotype of autosomal recessive OA but who have OCA1 as shown by the presence of mutations of the tyrosinase. They had white or very light hair and white skin at birth, and cutaneous pigment developed in the first decade of life. At ages ranging from 1.5-23 years, hair color was dark blond to light brown. The skin had generalized pigment and well developed tan was present on the exposed arm and face skin of four. Iris pigment was present and iris translucency varied. Molecular analysis of the tyrosinase gene, using PCR amplification and direct di-deoxy sequencing showed the following mutations: E398Z/E398Q, P406S/g346a, R402E/T373K, ?/D383N, and H211N/T373K. The homozygous individual was not from a known consanguineous mating. T373K is the most common tyrosinase gene mutation in our laboratory. Three of these mutations are associated with a total loss of tyrosinase activity (g346a splice-site, T373K, and D383N), while four are associated with residual enzyme activity (H211N, R402E, E398Q, and P406S). These studies show that mutations of the tyrosinase gene can produce the phenotype of autosomal recessive OA in an individual who has normal amounts of cutaneous pigment and the ability to tan after birth. This extends the phenotypic range of OCA1 to normal cutaneous pigment after early childhood, and suggest that mutations of the tyrosinase gene account for a significant number of individuals with autosomal recessive OA.

  20. Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome.

    Science.gov (United States)

    Ishaq, Mazhar; Niazi, Muhammad Khizar; Khan, Muhammad Saim; Nadeem, Yasser

    2015-04-01

    Albinism is an inherited abnormality of melanin synthesis with incidence of one per 20,000 births. Its clinical manifestations are related to the reduction or absence of pigmentation in the visual system and/or the skin and teguments. The clinical spectrum of Oculocutaneous Albinism (OCA) has four types ranging from OCA 1 - 4, of which OCA 1, A-1 is the most severe form. Partial cutaneous albinism which is a subtype of OCA is associated with systemic immunodeficiency disorders like Chediak Higashi (CHS), Griscelli (GS) and Hermansky-Pudlak (HPS) syndromes. A7 years boy was labeled initially as a case of Hermansky Pudlak syndrome at the age of 01 year. He as well as his 4 years old younger brother when examined in detail along with audiological investigations were diagnosed as a rare presentation of both Hermansky Pudlak and Waardenburg's syndrome.

  1. Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography.

    Science.gov (United States)

    Grigorian, Anahit; McKetton, Larissa; Schneider, Keith A

    2016-08-11

    In albinism, the number of ipsilaterally projecting retinal ganglion cells (RGCs) is significantly reduced. The retina and optic chiasm have been proposed as candidate sites for misrouting. Since a correlation between the number of lateral geniculate nucleus (LGN) relay neurons and LGN size has been shown, and based on previously reported reductions in LGN volumes in human albinism, we suggest that fiber projections from LGN to the primary visual cortex (V1) are also reduced. Studying structural differences in the visual system of albinism can improve the understanding of the mechanism of misrouting and subsequent clinical applications. Diffusion data and tractography are useful for mapping the OR (optic radiation). This manuscript describes two algorithms for OR reconstruction in order to compare brain connectivity in albinism and controls.An MRI scanner with a 32-channel head coil was used to acquire structural scans. A T1-weighted 3D-MPRAGE sequence with 1 mm(3) isotropic voxel size was used to generate high-resolution images for V1 segmentation. Multiple proton density (PD) weighted images were acquired coronally for right and left LGN localization. Diffusion tensor imaging (DTI) scans were acquired with 64 diffusion directions. Both deterministic and probabilistic tracking methods were run and compared, with LGN as the seed mask and V1 as the target mask. Though DTI provides relatively poor spatial resolution, and accurate delineation of OR may be challenging due to its low fiber density, tractography has been shown to be advantageous both in research and clinically. Tract based spatial statistics (TBSS) revealed areas of significantly reduced white matter integrity within the OR in patients with albinism compared to controls. Pairwise comparisons revealed a significant reduction in LGN to V1 connectivity in albinism compared to controls. Comparing both tracking algorithms revealed common findings, strengthening the reliability of the technique.

  2. Combined cataract surgery and aniridia ring implantation in oculocutaneous albinism.

    Science.gov (United States)

    Farahi, Azadeh; Hashemi, Hassan; Mehravaran, Shiva

    2015-11-01

    To present results of cataract surgery combined with aniridia ring implantation in patients with oculocutaneous albinism (OCA) in terms of vision, refraction, eye movements, and subjective photophobia and glare. Anterior segment services of Noor Eye Hospital, Tehran, Iran. Consecutive clinical case series study. Enrolled patients underwent phacoemulsification and posterior chamber intraocular lens (PC IOL) implantation and had 2 Morcher aniridia rings (types 50 F or 50 E) inserted intracapsularly. Preoperative and postoperative examinations included tests for visual acuity, manifest refraction, measurement of ocular alignment, and electronystagmography. After surgery, patients also completed a questionnaire to subjectively assess glare reduction. Twelve eyes of 6 OCA patients were included. Minimum follow-up was 6 months. None of the patients had any intraoperative or postoperative complications. In addition to improved uncorrected and corrected distance visual acuity and significant reduction of refractive error, all patients had a marked reduction of glare and photophobia after surgery. Iris ring implantation during cataract surgery was an effective procedure for increasing vision and reducing glare disability in patients with OCA. In light of the results and patients' expressed satisfaction, a study should be performed to assess the outcomes of refractive lens exchange along with implantation of a PC IOL and prosthetic iris device in OCA patients seeking refractive correction. Copyright © 2015. Published by Elsevier Inc.

  3. Quality of life in patients with oculocutaneous albinism.

    Science.gov (United States)

    Maia, Marcus; Volpini, Beatrice Mussio Fornazier; dos Santos, Gabriela Alves; Rujula, Maria Josefa Penon

    2015-01-01

    The social reality of the albino needs to be more studied in Brazil, as myths and social segregation regarding this illness are likely to be found in the country, with psychosocial and medical implications. As this subject has not been referenced in previous scientific articles in Brazil, this research intends to evaluate the quality of life of the albinos that treated at our medical institution. The quality of life was evaluated through the WHOQOL-BREF. Furthermore, two aspects of main relevance in the lives of the albinos were also objects of research, low vision and skin cancer. The sample consisted of forty oculocutaneous albinos and a control group of forty healthy individuals, matched by sex and age. Among the participants, 57.7% were between 18 and 40 years old, 28.2% were between 41 and 60, and 14.1% were over 60. 42.1% had skin cancer before the study, 18.4% had skin cancer during the study and 89.5% stated visual deficit. The results obtained in the questionnaires showed a statistically significant difference in the physical domain, with P oculocutaneous albinos. The results presented in this study demonstrated the vulnerability of the affected individuals and the special care required by those patients, at the same time that the need for further research is highlighted in order to better elucidate the aspects related to albinism.

  4. Oculocutaneous albinism type 1A: a case report.

    Science.gov (United States)

    Karaman, Ali

    2008-11-15

    The term, oculocutaneous albinism (OCA), describes a group of inherited disorders of melanin biosynthesis that exhibits congenital hypopigmentation of ocular and cutaneous tissues. The clinical spectrum of OCA ranges from a complete lack of melanin pigmentation to mildly hypopigmented forms. OCA1A is the most severe type with a complete lack of melanin production throughout life; the milder forms OCA1B, OCA2, OCA3 and OCA4 show some pigment accumulation over time. Clinical manifestations include various degrees of congenital nystagmus, iris hypopigmentation and translucency, reduced pigmentation of the retinal pigment epithelium, foveal hypoplasia, reduced visual acuity and refractive errors, color vision impairment, and prominent photophobia. All four types of OCA are inherited as autosomal recessive disorders. At least four genes are responsible for the different types of the disease (TYR, OCA2, TYRP1, and MATP). Diagnosis is based on clinical findings of hypopigmentation of the skin and hair in addition to the characteristic ocular symptoms. Herein we present a case with OCA1A.

  5. Evidence of macular pigment in the central macula in albinism.

    Science.gov (United States)

    Wolfson, Yulia; Fletcher, Emily; Strauss, Rupert W; Scholl, Hendrik P N

    2016-04-01

    Albinism represents a spectrum of disorders with diminished to absent amounts of melanin pigmentation including the posterior segment of the eye. Macular pigment (MP) consists of two main carotenoids, lutein and zeaxanthin, concentrated in the macula. MP serves as blue light absorbent, antioxidant, and may reduce chromatic aberration and glare. It remains unclear if albinos have detectable MP. The purpose was to investigate the distribution of MP in albino patients with psychophysical and imaging techniques. MP was measured at the eccentricity of 0.5° by heterochromatic flicker perimetry (QuantifEye(®); Tinsley Precision Instruments Ltd.) or by scanning laser ophthalmoscopy (MPOD module, MultiColor Spectralis(®), Heidelberg Engineering, Heidelberg, Germany) in four albino patients, who were also investigated with multimodal ophthalmic imaging. Visual acuity ranged from 20/32 to 20/125, nystagmus was present in three patients, and all patients showed typical foveal hypoplasia on fundus exam and optical coherence tomography. Fundus autofluorescence (FAF) demonstrated various degrees of central FAF signal attenuation. Genetic testing was available in three patients and confirmed the diagnosis. Measurable amounts of MP were detected in all four patients and ranged from 0.05 to 0.24, which is below the normal range. We conclude that MP can be demonstrated and measured in albinos. Further studies are needed to investigate MP accumulation following carotenoid supplementation and its impact on visual performance. Copyright © 2015 Elsevier Ltd. All rights reserved.

  6. An unusual combination of unilateral orbital plexiform neurofibroma in a patient with oculocutaneous albinism.

    Science.gov (United States)

    Saravanan, J; Rajendraprasad, A; Priyadharshni, S

    2014-06-01

    A 70-year-old female patient presented with proptosis of right eye for the past 15 days and defective vision in both eyes since birth. She was found to have eccentric painful proptosis of right eye along with features of oculocutaneous albinism. Eccentric proptosis was due to an orbital mass which proved to be a plexiform neurofibroma by histopathological examination. The case is presented for its rarity, as an isolated orbital plexiform neurofibroma without the systemic features of neurofibromatosis is rare and its coincidental presentation with oculocutaneous albinism is yet rare and has not been reported so far.

  7. X-linked albinism-deafness syndrome and Waardenburg syndrome type II: A hypothesis

    Energy Technology Data Exchange (ETDEWEB)

    Zlotogora, J. [Hadassah Univ. Hospital, Jerusalem (Israel)

    1995-11-20

    Margolis reported on a large pedigree with a {open_quotes}new{close_quotes} X-linked syndrome of profound deafness and albinism (MIM 300700, albinism-deafness syndrome). The affected males presented with profound deafness and severe pigmentary abnormalities of the skin. At birth the skin appeared as almost albinotic except for areas of light pigmentation over the gluteal and scrotal areas, and thereafter pigmentation gradually increased over the body. Skin changes ultimately included areas of hypopigmentation and spots of hyperpigmentation. Some of the affected males also had blue irides, heterochromia, or segmental color iris changes. In carrier females, variable hearing impairment was documented without any pigmentary changes. 9 refs., 1 fig.

  8. An unusual combination of Unilateral Orbital Plexiform Neurofibroma in a patient with oculocutaneous albinism

    Directory of Open Access Journals (Sweden)

    J Saravanan

    2014-01-01

    Full Text Available A 70-year-old female patient presented with proptosis of right eye for the past 15 days and defective vision in both eyes since birth. She was found to have eccentric painful proptosis of right eye along with features of oculocutaneous albinism. Eccentric proptosis was due to an orbital mass which proved to be a plexiform neurofibroma by histopathological examination. The case is presented for its rarity, as an isolated orbital plexiform neurofibroma without the systemic features of neurofibromatosis is rare and its coincidental presentation with oculocutaneous albinism is yet rare and has not been reported so far.

  9. Retinal pigment epithelium findings in patients with albinism using wide-field polarization-sensitive optical coherence tomography.

    Science.gov (United States)

    Schütze, Christopher; Ritter, Markus; Blum, Robert; Zotter, Stefan; Baumann, Bernhard; Pircher, Michael; Hitzenberger, Christoph K; Schmidt-Erfurth, Ursula

    2014-11-01

    To investigate pigmentation characteristics of the retinal pigment epithelium (RPE) in patients with albinism using wide-field polarization-sensitive optical coherence tomography compared with intensity-based spectral domain optical coherence tomography and fundus autofluorescence imaging. Five patients (10 eyes) with previously genetically diagnosed albinism and 5 healthy control subjects (10 eyes) were imaged by a wide-field polarization-sensitive optical coherence tomography system (scan angle: 40 × 40° on the retina), sensitive to melanin contained in the RPE, based on the polarization state of backscattered light. Conventional intensity-based spectral domain optical coherence tomography and fundus autofluorescence examinations were performed. Retinal pigment epithelium-pigmentation was analyzed qualitatively and quantitatively based on depolarization assessed by polarization-sensitive optical coherence tomography. This study revealed strong evidence of polarization-sensitive optical coherence tomography to specifically image melanin in the RPE. Depolarization of light backscattered by the RPE in patients with albinism was reduced compared with normal subjects. Heterogeneous RPE-specific depolarization characteristics were observed in patients with albinism. Reduction of depolarization observed in the light backscattered by the RPE in patients with albinism corresponds to expected decrease of RPE pigmentation. The degree of depigmentation of the RPE is possibly associated with visual acuity. Findings suggest that different albinism genotypes result in heterogeneous levels of RPE pigmentation. Polarization-sensitive optical coherence tomography showed a heterogeneous appearance of RPE pigmentation in patients with albinism depending on different genotypes.

  10. Mutation analysis of a Chinese family with oculocutaneous albinism.

    Science.gov (United States)

    Wang, Xiong; Zhu, Yaowu; Shen, Na; Peng, Jing; Wang, Chunyu; Liu, Haiyi; Lu, Yanjun

    2016-12-20

    Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by either complete lack of or a reduction in melanin biosynthesis in the skin, hair, and eyes. OCA1, the most common and severe type, is caused by mutations in the tyrosinase (TYR) gene. In this study, we report a Chinese family with two members affected by OCA. Blood samples were collected from all family members. Genomic DNA was isolated from blood leukocytes, and all coding exons and adjacent intronic sequences of the TYR gene were examined for mutation analysis using polymerase chain reaction (PCR)-based sequencing. A pedigree chart was drawn, and clinical examinations and paraclinical tests were performed. Compound heterozygous mutations in TYR (c.832C>T and c.929_930insC, which resulted in p.Arg278* and p.Arg311Lysfs*7, respectively) were identified in the two patients with milky skin, white hair, photophobia, and reduced visual acuity, while other family members only carried one of two heterozygous mutations. In addition, a homozygous missense mutation c.814G>A (p.Glu272Lys) in the solute carrier family 45 member 2 (SLC45A2) gene was found in both patients and unaffected family members, suggesting that this may not be a causative mutation. The findings of this study expand the mutational spectrum of OCA. Compound heterozygous mutations (c.832C>T and c.929_930insC) in the TYR gene may be responsible for partial clinical manifestations of OCA, while the homozygous missense mutation c.814G>A (p.Glu272Lys) in the SLC45A2 gene may not be associated with OCA.

  11. Childhood autism in a 13 year old boy with oculocutaneous albinism: a case report

    OpenAIRE

    Bakare, Muideen O; Ikegwuonu, Nkeiruka N

    2008-01-01

    Abstract Introduction Hypomelanotic skin disorders like tuberous sclerosis and hypomelanosis of Ito that present with multiple systemic manifestations have been reported in association with childhood autism. Oculocutaneous albinism is another hypomelanotic skin disorder that rarely presents with multiple systemic manifestations. It is infrequently reported in association with childhood autism when compared to tuberous sclerosis and hypomelanosis of Ito. Case presentation This article reports ...

  12. A nonsense mutation in the tyrosinase gene causes albinism in water buffalo

    Directory of Open Access Journals (Sweden)

    Damé Maria Cecília

    2012-07-01

    Full Text Available Abstract Background Oculocutaneous albinism (OCA is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to determine the clinical presentation and genetic basis of albinism in this species. Results Clinical examinations and pedigree analysis were performed in an affected herd, and wild-type and OCA tyrosinase mRNA sequences were obtained. The main clinical findings were photophobia and a lack of pigmentation of the hair, skin, horns, hooves, mucosa, and iris. The results of segregation analysis suggest that this disease is acquired through recessive inheritance. In the OCA buffalo, a single-base substitution was detected at nucleotide 1,431 (G to A, which leads to the conversion of tryptophan into a stop codon at residue 477. Conclusion This premature stop codon produces an inactive protein, which is responsible for the OCA buffalo phenotype. These findings will be useful for future studies of albinism in buffalo and as a possible model to study diseases caused by a premature stop codon.

  13. Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.

    Science.gov (United States)

    Rosenmann, Ada; Bejarano-Achache, Idit; Eli, Dalia; Maftsir, Genia; Mizrahi-Meissonnier, Liliana; Blumenfeld, Anat

    2009-10-01

    To present our accumulated data on prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli albino families. Albinism consists of variable phenotypes, but only families with predicted severely handicapped albino offspring, who declared their wish to terminate a pregnancy of such a fetus, are eligible for prenatal testing. Prenatal testing is not offered otherwise. Following detailed genetic investigation and counseling, molecular prenatal testing was performed using the combination of mutation screening, direct sequencing, and haplotype analysis. A total of 55 prenatal tests were performed in 37 families; in 26 families the propositus was the child, and in 11, a parent or a close relative. In 32 families tyrosinase (TYR) mutations were diagnosed. In 5 families a P gene mutation was detected. Twelve albino fetuses were diagnosed. Following further genetic counseling, all couples elected to terminate the pregnancy. Three additional pregnancies were terminated for other reasons. Families with increased risk for an albino child with severe visual handicap, seek premarital and prenatal genetic counseling and testing, for the prevention of affected offspring. Our combined methods of molecular genetic testing enable a nationwide approach for prevention of albinism. The same paradigm can be applied to other populations affected with albinism.

  14. Basal cell carcinoma, oculo-cutaneous albinism and actinic keratosis in a native Indian

    Directory of Open Access Journals (Sweden)

    Kingshuk Chatterjee

    2013-01-01

    Full Text Available The report highlights the occurrence of basal cell carcinoma in a native Indian with oculo-cutaneous albinism, an association not frequently encountered. The clinical and histopathological features, which assisted to form the diagnosis, are outlined. A high degree of suspicion and timely recognition of the potentially aggressive neoplasm, under this unusual circumstance, is the key to its diagnosis.

  15. Analysis of MC1R variants in Indian oculocutaneous albinism patients

    Indian Academy of Sciences (India)

    are known to be associated with melanoma and non- melanoma skin cancers, either through pigmentary or non- pigmentary processes. Oculocutaneous albinism (OCA), characterized by loss of melanin, is known to predispose the patients towards various forms of skin cancers. We argue that presence of skin cancer ...

  16. Monocular and binocular development in children with albinism, infantile nystagmus syndrome, and normal vision

    NARCIS (Netherlands)

    Huurneman, B.; Boonstra, F.N.

    2013-01-01

    Abstract Background/aims: To compare interocular acuity differences, crowding ratios, and binocular summation ratios in 4- to 8-year-old children with albinism (n = 16), children with infantile nystagmus syndrome (n = 10), and children with normal vision (n = 72). Methods: Interocular acuity

  17. Brown′s syndrome with ocular albinism: Case report of a rare presentation and literature review

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    Soumya Nambiar

    2015-01-01

    Full Text Available We report a rare case of Brown′s syndrome associated with ocular albinism in a 10-year-old boy. This report highlights the importance of further analysis of cases of Brown′s syndrome and throws some light on the etiology and association of this rare condition.

  18. Monocular and binocular development in children with albinism, infantile nystagmus syndrome and normal vision

    NARCIS (Netherlands)

    Huurneman, B.; Boonstra, F.N.

    2013-01-01

    Background/aims: To compare interocular acuity differences, crowding ratios, and binocular summation ratios in 4- to 8-year-old children with albinism (n = 16), children with infantile nystagmus syndrome (n = 10), and children with normal vision (n = 72). Methods: Interocular acuity differences and

  19. Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type

    NARCIS (Netherlands)

    Bergen, A. A.; Samanns, C.; Schuurman, E. J.; van Osch, L.; van Dorp, D. B.; Pinckers, A. J.; Bakker, E.; Gal, A.; van Ommen, G. J.; Bleeker-Wagemakers, E. M.

    1991-01-01

    An extensive linkage analysis was performed by studying ten Xp22 loci in ten families segregating for X-linked ocular albinism of the Nettleship-Falls type (XOA). Linkage was confirmed between the XOA locus (OA1) and both DXS16 (theta max = 0.10, zeta max = 4.09) and DXS237 (theta max = 0.12, zeta

  20. Albinism in the american mink (Neovison vison) is associated with a tyrosinase nonsense mutation

    DEFF Research Database (Denmark)

    Anistoroaei, Razvan Marian; Fredholm, Merete; Christensen, Knud

    2008-01-01

    Albino phenotypes are documented in various species including the American mink. In other species the albino phenotypes are associated with tyrosinase (TYR) gene mutations; therefore TYR was considered the candidate gene for albinism in mink. Four microsatellite markers were chosen in the prodicted...

  1. Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches

    NARCIS (Netherlands)

    Preising, Markus N.; Forster, Hedwig; Tan, H.; Lorenz, Birgit; de Jong, Paulus T. V. M.; Plomp, Astrid S.

    2007-01-01

    To elucidate the molecular basis of oculocutaneous albinism with variable expressivity in a family from The Netherlands in which no consanguinity was reported. Three affected family members were screened for mutations in tyrosinase (TYR) and the pink-eye-dilution gene (P) by using SSCP. The

  2. Formulation of a topical sun protection cream for people with albinism

    African Journals Online (AJOL)

    The aim of this investigation was to design and develop a sun protection product for people with albinism that is affordable, applicable to their specific skin condition, and provide them with the maximum sun protection possible. To achieve the required Sun Protection Factor value of > 20, simple creams were combined with ...

  3. Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.

    Science.gov (United States)

    Renugadevi, Kathirvel; Sil, Asim Kumar; Perumalsamy, Vijayalakshmi; Sundaresan, Periasamy

    2010-08-09

    Albinism is a group of genetic disorders, showing a broad spectrum of different phenotypes. The purpose of this study was to screen known candidate genes for oculocutaneous albinism (OCA) and ocular albinism (OA) mutations in Indian patients. Blood samples were collected from 23 probands and 13 affected family members from 23 genetically unrelated Indian families (22 diagnosed as OCA and 1 diagnosed as OA) and analyzed by bidirectional DNA sequencing of the classic OCA genes--tyrosinase (TYR, or oculocutaneous albinism IA), pink eyed dilution (P; or oculocutaneous albinism II (OCA2]), tyrosinase-related protein 1 (TYRP1), solute carrier family 45, member 2 (SLC45A2; or membrane-associated transporter protein [MATP])--and the OA1 gene, G protein-coupled receptor 143 (GPR143). Three missense mutations, c. 715 C>T (R239W), c. 896 G>A (R299H), c.1255 G>A (G419R), and one termination c. 832 C>T (R278X), were identified in TYR, as well as one novel mutation, c.1453 G>A (G485R) in P. One novel single nucleotide polymorphism (SNP) was identified in both TYR and P; few reported SNPs were identified. The G>A base substitution caused relatively conservative amino acid changes, which altered glycine to arginine residues within the topological domain. The novel OCA2 mutation was not present in 100 control samples. This study identified two probands carrying mutations alone, 16 probands carrying SNPs alone, 4 probands carrying both mutations and SNPs and only one proband carrying neither mutations nor SNPs. Although sequence analysis was performed with all five candidate genes, only four (17.39%) of the 23 probands showed mutations in TYR and 2 probands (8.69%) showed an unreported novel mutation in P. Genetic counseling for phenotypical diagnosis and genetic mutation screening of these genes will help to minimize the incidence of OCA and OA in future generations.

  4. Foveal hemorrhage in an eye with foveal hypoplasia associated with albinism

    Directory of Open Access Journals (Sweden)

    Masuda N

    2014-09-01

    Full Text Available Naonori Masuda, Taiji Hasegawa, Mariko Yamashita, Nahoko Ogata Department of Ophthalmology, Nara Medical University, Nara, Japan Abstract: Oculocutaneous albinism is a group of congenital disorders caused by alterations of melanin biosynthesis. We report our findings in a patient with oculocutaneous albinism who presented with foveal hypoplasia and a foveal hemorrhage. A 48-year-old man noted a dark spot in the middle of the visual field of his right eye. He had depigmented skin, white hair, white eyebrows, and white cilia. He also had horizontal nystagmus and depigmented irides. His best-corrected visual acuity was 2/100 with -14.0 diopters in the right eye and 3/100 with -5.0 diopters in the left eye. Ophthalmoscopy showed diffuse depigmentation in both eyes and a foveal hemorrhage in the right eye. Optical coherence tomography showed the absence of a foveal pit in both eyes and a subretinal hyperreflective lesion corresponding to the foveal hemorrhage in the right eye. Fluorescein angiography showed that the retinal and choroidal vessels were relatively hypofluorescent because of the lack of a blocking effect of the pigments in the retinal pigment epithelium. Fluorescein angiography and indocyanine green angiography did not show any evidence of choroidal neovascularization in either eye. The foveal hemorrhage in the right eye spontaneously regressed and finally resolved at 3 months after onset. At the final examination, the patient reported that his vision had recovered. A foveal hemorrhage is a rare condition in an eye with foveal hypoplasia associated with albinism. The hemorrhage may be related to high myopia and also to the hypoplasia of the fovea associated with albinism. Keywords: albinism, foveal hemorrhage, foveal hypoplasia, simple hemorrhage

  5. Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.

    Science.gov (United States)

    Grønskov, Karen; Dooley, Christopher M; Østergaard, Elsebet; Kelsh, Robert N; Hansen, Lars; Levesque, Mitchell P; Vilhelmsen, Kaj; Møllgård, Kjeld; Stemple, Derek L; Rosenberg, Thomas

    2013-03-07

    Autosomal-recessive albinism is a hypopigmentation disorder with a broad phenotypic range. A substantial fraction of individuals with albinism remain genetically unresolved, and it has been hypothesized that more genes are to be identified. By using homozygosity mapping of an inbred Faroese family, we identified a 3.5 Mb homozygous region (10q22.2-q22.3) on chromosome 10. The region contains five protein-coding genes, and sequencing of one of these, C10orf11, revealed a nonsense mutation that segregated with the disease and showed a recessive inheritance pattern. Investigation of additional albinism-affected individuals from the Faroe Islands revealed that five out of eight unrelated affected persons had the nonsense mutation in C10orf11. Screening of a cohort of autosomal-recessive-albinism-affected individuals residing in Denmark showed a homozygous 1 bp duplication in C10orf11 in an individual originating from Lithuania. Immunohistochemistry showed localization of C10orf11 in melanoblasts and melanocytes in human fetal tissue, but no localization was seen in retinal pigment epithelial cells. Knockdown of the zebrafish (Danio rerio) homolog with the use of morpholinos resulted in substantially decreased pigmentation and a reduction of the apparent number of pigmented melanocytes. The morphant phenotype was rescued by wild-type C10orf11, but not by mutant C10orf11. In conclusion, we have identified a melanocyte-differentiation gene, C10orf11, which when mutated causes autosomal-recessive albinism in humans. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  6. Refractive errors, visual impairment, and the use of low-vision devices in albinism in Malawi.

    Science.gov (United States)

    Schulze Schwering, M; Kumar, N; Bohrmann, D; Msukwa, G; Kalua, K; Kayange, P; Spitzer, M S

    2015-04-01

    This study focuses on the refractive implications of albinism in Malawi, which is mostly associated with the burden of visual impairment. The main goal was to describe the refractive errors and to analyze whether patients with albinism in Malawi, Sub-Saharan Africa, benefit from refraction. Age, sex, refractive data, uncorrected and best-corrected visual acuity (UCVA, BCVA), colour vision, contrast sensitivity, and the prescription of sunglasses and low vision devices were collected for a group of 120 albino individuals with oculocutaneous albinism (OCA). Refractive errors were evaluated objectively and subjectively by retinoscopy, and followed by cycloplegic refraction to reconfirm the results. Best-corrected visual acuity (BCVA) was also assessed binocularly. One hundred and twenty albino subjects were examined, ranging in age from 4 to 25 years (median 12 years), 71 (59 %) boys and 49 (41 %) girls. All exhibited horizontal pendular nystagmus. Mean visual acuity improved from 0.98 (0.33) logMAR to 0.77 (0.15) logMAR after refraction (p albinism who were hyperopic more than +1.5 D hardly improved from refraction. With the rule (WTR) astigmatism was more present (37.5 %) than against the rule (ATR) astigmatism (3.8 %). Patients with astigmatism less than 1.5 D improved in 15/32 of cases (47 %) by 2 lines or more. Patients with astigmatism equal to or more than 1.5 D in any axis improved in 26/54 of cases (48 %) by 2 lines or more. Refraction improves visual acuity of children with oculocutaneous albinism in a Sub-Saharan African population in Malawi. The mean improvement was 2 logMAR units.

  7. Ocular Albinism Type 1 Regulates Melanogenesis in Mouse Melanocytes

    Directory of Open Access Journals (Sweden)

    Tianzhi Chen

    2016-09-01

    Full Text Available To investigate whether ocular albinism type 1 (OA1 is differentially expressed in the skin of mice with different coat colors and to determine its correlation with coat color establishment in mouse, the expression patterns and tissue distribution characterization of OA1 in the skin of mice with different coat colors were qualitatively and quantitatively analyzed by real-time quantitative PCR (qRT-PCR, immunofluorescence staining and Western blot. The qRT-PCR analysis revealed that OA1 mRNA was expressed in all mice skin samples tested, with the highest expression level in brown skin, a moderate expression level in black skin and the lowest expression level in gray skin. Positive OA1 protein bands were also detected in all skin samples by Western blot analysis. The relative expression levels of OA1 protein in both black and brown skin were significantly higher than that in gray skin, but there was no significant difference between black and brown mice. Immunofluorescence assays revealed that OA1 was mainly expressed in the hair follicle matrix, the inner and outer root sheath in the skin tissues with different coat colors. To get further insight into the important role of OA1 in the melanocytes’ pigmentation, we transfected the OA1 into mouse melanocytes and then detected the relative expression levels of pigmentation-related gene. Simultaneously, we tested the melanin content of melanocytes. As a result, the overexpression of OA1 significantly increased the expression levels of microphthalmia-associated transcription factor (MITF, tyrosinase (TYR, tyrosinase-related protein 1 (TRP1 and premelanosome protein (PMEL. However, the tyrosinase-related protein 2 (TRP2 level was attenuated. By contrast, the level of glycoprotein non-metastatic melanoma protein b (GPNMB was unaffected by OA1 overexpression. Furthermore, we observed a significant increase in melanin content in mouse melanocyte transfected OA1. Therefore, we propose that OA1 may

  8. [Diagnosis of a case with oculocutaneous albinism type Ⅲ with next generation exome capture sequencing].

    Science.gov (United States)

    Lyu, Yuqiang; Huang, Jing; Zhang, Kaihui; Liu, Guohua; Gao, Min; Gai, Zhongtao; Liu, Yi

    2017-02-10

    To explore the clinical and genetic features of a Chinese boy with oculocutaneous albinism. The clinical features of the patient were analyzed. The DNA of the patient and his parents was extracted and sequenced by next generation exome capture sequencing. The nature and impact of detected mutation were predicted and validated. The child has displayed strabismus, poor vision, nystagmus and brown hair. DNA sequencing showed that the patient has carried compound heterozygous mutations of the TYRP1 gene, namely c.1214C>A (p.T405N) and c.1333dupG, which were inherited from his mother and father, respectively. Neither mutation was reported previously. The child has suffered from oculocutaneous albinism type Ⅲ caused by mutations of the TYRP1 gene.

  9. Oculocutaneous albinism: identifying and overcoming barriers to vision care in a Nigerian population.

    Science.gov (United States)

    Udeh, N N; Eze, B I; Onwubiko, S N; Arinze, O C; Onwasigwe, E N; Umeh, R E

    2014-06-01

    To assess eye care service utilization, and identify access barriers in a south-eastern Nigerian albino population. The study was a population-based, cross-sectional survey conducted in Enugu state between August, 2011 and January, 2012. Using the data base of the state's Albino Foundation and tailored awareness creation, persons living with albinism were identified and recruited at two study centres. Data on participants' socio-demographics, perception of vision, visual needs, previous eye examination and or low vision assessment, use of glasses or low vision devices were collected. Reasons for non-utilisation of available vision care services were also obtained. Descriptive and comparative statistics were performed. A p albinism. The identified barriers to vision care access are amenable to awareness creation and logistic change in the provision of appropriate vision care services.

  10. Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel

    Energy Technology Data Exchange (ETDEWEB)

    Gershoni-Baruch, R. (Technion-Israel Institute of Technology, Haifa (Israel)); Rosenmann, A. (Hadassah Medical Center, Jerusalem (Israel)); Droetto, S.; Holmes, S.; Tripathi, R.K.; Spritz, R.A. (Univ. of Wisconsin, Madison, WI (United States))

    1994-04-01

    The authors have analyzed the tyrosinase (TYR) gene in 38 unrelated patients with oculocutaneous albinism (OCA), derived from several different ethnic groups of the diverse population of Israel. They detected TYR gene mutations in 23 of the 34 patients with apparent type I (i.e., tyrosinase-deficient) OCA and in none of the patients with other clinical forms of albinism. Among Moroccan Jews with type IA (i.e., tyrosinase-negative) OCA, they detected a highly predominant mutant allele containing a missense substitution, Gly47Asp (G47D). This mutation occurs on the same haplotype as in patients from the Canary Islands and Puerto Rico, suggesting that the G47D mutation in these ethnically distinct populations may stem from a common origin. 28 refs., 1 fig., 2 tabs.

  11. 29-year-old man presenting with progressive dyspnea, oculocutaneous albinism, and epistaxis.

    Science.gov (United States)

    Asefi, Golriz; Lahiji, Arta; Kamangar, Nader

    2015-06-01

    A 29-year-old man with a history of oculocutaneous albinism presented to the ED complaining of progressive dyspnea on exertion. One month prior to admission, the patient had begun to experience worsening dyspnea provoked by routine household activities. Additionally, he had developed a nonproductive cough, exacerbated by cold weather. He denied associated chest pain, hemoptysis, fever, chills, or night sweats. He denied any new exposures or sick contacts in the recent past. A review of systems was significant for a history of epistaxis and frequent bruising. Born in Honduras, he had immigrated to the United States approximately 10 years prior to his presentation to our facility. Furthermore, there was no family history of albinism, bleeding disorders, or pulmonary disease.

  12. The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11. 2-q12

    Energy Technology Data Exchange (ETDEWEB)

    Ramsay, M.; Colman, M.A.; Stevens, G.; Zwane, E.; Kromberg, J.; Jenkins, T. (South African Institute for Medical Research, Johannesburg (South Africa)); Garral, M.

    1992-10-01

    Tyrosinase-positive oculocutaneous albinism (ty-pos OCA), an autosomal recessive disorder of the melanin biosynthetic pathway, is the most common type of albinism occurring worldwide. In southern African Bantu-speaking negroids it has an overall prevalence of about 1/3,900. Since the basic biochemical defect is unknown, a linkage study with candidate loci, candidate chromosomal regions, and random loci was undertaken. The ty-pos OCA locus was found to be linked to two arbitrary loci, D15S10 and D15S13, in the Prader-Willi/Angelman chromosomal region on chromosome 15q11.2-q12. The pink-eyed dilute locus, p, on mouse chromosome 7, maps close to a region of homology on human chromosome 15q, and we postulate that the ty-pos OCA and p loci are homologous. 43 refs., 2 figs., 1 tab.

  13. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism

    DEFF Research Database (Denmark)

    Grønskov, Karen; Ek, Jakob; Sand, Annie

    2009-01-01

    PURPOSE: The study was initiated to investigate the mutation spectrum of four OCA genes and to calculate the birth prevalence in patients with autosomal recessive albinism. METHODS: Mutation analysis using dHPLC or direct DNA sequencing of TYR, OCA2, TYRP1, and MATP was performed in 62 patients....... Two mutations in one OCA gene explained oculocutaneous albinism (OCA) in 44% of the patients. Mutations in TYR were found in 26% of patients, while OCA2 and MATP caused OCA in 15% and 3%, respectively. No mutations were found in TYRP1. Of the remaining 56% of patients, 29% were heterozygous...... for a mutation in either TYR or OCA2, and 27% were without mutations in any of the four genes. Exclusive expression of the mutant allele was found in four heterozygous patients. A minimum birth prevalence of 1 in 14,000 was calculated, based on register data on 218 patients. The proportion of OCA to autosomal...

  14. Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients

    Science.gov (United States)

    Gargiulo, Annagiusi; Testa, Francesco; Rossi, Settimio; Di Iorio, Valentina; Fecarotta, Simona; de Berardinis, Teresa; Iovine, Antonello; Magli, Adriano; Signorini, Sabrina; Fazzi, Elisa; Galantuomo, Maria Silvana; Fossarello, Maurizio; Montefusco, Sandro; Ciccodicola, Alfredo; Neri, Alberto; Macaluso, Claudio; Simonelli, Francesca; Surace, Enrico Maria

    2011-01-01

    Purpose. The purpose of this study was to identify the molecular basis of albinism in a large cohort of Italian patients showing typical ocular landmarks of the disease and to provide a full characterization of the clinical ophthalmic manifestations. Methods. DNA samples from 45 patients with ocular manifestations of albinism were analyzed by direct sequencing analysis of five genes responsible for albinism: TYR, P, TYRP1, SLC45A2 (MATP), and OA1. All patients studied showed a variable degree of skin and hair hypopigmentation. Eighteen patients with distinct mutations in each gene associated with OCA were evaluated by detailed ophthalmic analysis, optical coherence tomography (OCT), and fundus autofluorescence. Results. Disease-causing mutations were identified in more than 95% of analyzed patients with OCA (28/45 [62.2%] cases with two or more mutations; 15/45 [33.3%] cases with one mutation). Thirty-five different mutant alleles were identified of which 15 were novel. Mutations in TYR were the most frequent (73.3%), whereas mutations in P occurred more rarely (13.3%) than previously reported. Novel mutations were also identified in rare loci such as TYRP1 and MATP. Mutations in the OA1 gene were not detected. Clinical assessment revealed that patients with iris and macular pigmentation had significantly higher visual acuity than did severe hypopigmented phenotypes. Conclusions. TYR gene mutations represent a relevant cause of oculocutaneous albinism in Italy, whereas mutations in P present a lower frequency than that found in other populations. Clinical analysis revealed that the severity of the ocular manifestations depends on the degree of retinal pigmentation. PMID:20861488

  15. Implantation of phakic intraocular lens in 3 patients with oculocutaneous albinism.

    Science.gov (United States)

    van Rijn, Gwyneth A; Snoek, Colette; Joosse, Maurits; Saxena, Ruchi; Luyten, Gregorius P M

    2013-10-01

    We present 3 cases with oculocutaneous albinism in which a high refractive error was optically corrected by implantation of an Artisan iris-fixated phakic intraocular lens, with a follow-up of 8 to 14 years. No author has a financial or proprietary interest in any material or method mentioned. Copyright © 2013 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  16. Evaluation of vision-specific quality-of-life in albinism.

    Science.gov (United States)

    Kutzbach, Beth R; Merrill, Kimberly S; Hogue, Kathy M; Downes, Sara J; Holleschau, Ann M; MacDonald, John T; Summers, C Gail

    2009-04-01

    Human albinism is a genetic condition associated with visual impairment that affects many aspects of daily life. Office measurements of visual acuity do not necessarily reflect daily visual function and health status. This study used the National Eye Institute Visual Function Questionnaire (NEI-VFQ) to determine the effect of albinism-associated ophthalmopathy on quality of life (QOL). We administered the NEI-VFQ, which consists of 25 questions about QOL (VFQ-25) and 14 questions about well-being (VFQ-39), to 44 consenting participants with albinism older than the age of 18 years. Nineteen male and 25 female subjects completed the study. Median age was 30.5 years (range, 18-79 years). Mean best-corrected visual acuity was 20/83 (range, 20/20 to 20/320). Forty-eight percent reported that they were currently able to drive with their condition. Participants perceived midscale problems with their general vision (median subscale score 60.0). Visual acuity correlated moderately with overall NEI-VFQ composite scores (r(s) = 0.40, p = 0.01 for VFQ-25 and r(s) = 0.36, p = 0.02 for VFQ-39). Most notable impairment was recorded for distance acuity, vision-specific mental health, and vision-specific role difficulties (VFQ-39 median subscale scores 66.7, 70.0, and 75.0, respectively). Differences by sex were insignificant. Greater ceiling effects were noted for the VFQ-25 than for the VFQ-39. The NEI-VFQ-39 is a method to evaluate self-reported effects of vision-related QOL in albinism and may be used as a baseline for evaluating outcomes in interventional studies in these patients.

  17. Monocular and binocular development in children with albinism, infantile nystagmus syndrome, and normal vision.

    Science.gov (United States)

    Huurneman, Bianca; Boonstra, F Nienke

    2013-12-01

    To compare interocular acuity differences, crowding ratios, and binocular summation ratios in 4- to 8-year-old children with albinism (n = 16), children with infantile nystagmus syndrome (n = 10), and children with normal vision (n = 72). Interocular acuity differences and binocular summation ratios were compared between groups. Crowding ratios were calculated by dividing the single Landolt C decimal acuity with the crowded Landolt C decimal acuity mono- and binocularly. A linear regression analysis was conducted to investigate the contribution of 5 predictors to the monocular and binocular crowding ratio: nystagmus amplitude, nystagmus frequency, strabismus, astigmatism, and anisometropia. Crowding ratios were higher under mono- and binocular viewing conditions for children with infantile nystagmus syndrome than for children with normal vision. Children with albinism showed higher crowding ratios in their poorer eye and under binocular viewing conditions than children with normal vision. Children with albinism and children with infantile nystagmus syndrome showed larger interocular acuity differences than children with normal vision (0.1 logMAR in our clinical groups and 0.0 logMAR in children with normal vision). Binocular summation ratios did not differ between groups. Strabismus and nystagmus amplitude predicted the crowding ratio in the poorer eye (p = 0.015 and p = 0.005, respectively). The crowding ratio in the better eye showed a marginally significant relation with nystagmus frequency and depth of anisometropia (p = 0.082 and p = 0.070, respectively). The binocular crowding ratio was not predicted by any of the variables. Children with albinism and children with infantile nystagmus syndrome show larger interocular acuity differences than children with normal vision. Strabismus and nystagmus amplitude are significant predictors of the crowding ratio in the poorer eye.

  18. MC1R Mutations Modify the Classic Phenotype of Oculocutaneous Albinism Type 2 (OCA2)

    OpenAIRE

    King, Richard A.; Willaert, Rebecca K.; Schmidt, Ramona M.; Pietsch, Jacy; Savage, Sarah; Brott, Marcia J.; Fryer, James P.; Summers, C. Gail; Oetting, William S.

    2003-01-01

    The heterogeneous group of disorders known as oculocutaneous albinism (OCA) shares cutaneous and ocular hypopigmentation associated with common developmental abnormalities of the eye. Mutations of at least 11 loci produce this phenotype. The majority of affected individuals develop some cutaneous melanin; this is predominantly seen as yellow/blond hair, whereas fewer have brown hair. The OCA phenotype is dependent on the constitutional pigmentation background of the family, with more OCA pigm...

  19. Assessment of molecular and epigenetic changes in the albinism of Agave angustifolia Haw.

    Science.gov (United States)

    Us-Camas, Rosa; Castillo-Castro, Eduardo; Aguilar-Espinosa, Margarita; Limones-Briones, Verónica; Rivera-Madrid, Renata; Robert-Díaz, Manuel L; De-la-Peña, Clelia

    2017-10-01

    Albinism in plants is a rare phenomenon that occurs in nature and is characterized by the total or partial loss of photosynthetic pigments. Although progress has been made in understanding the nature of this phenomenon, the precise causes and biological basis are still unexplored. Here, we study the genetic and epigenetic differences between green (G), variegated (V) and albino (A) A. angustifolia Haw. plantlets obtained by in vitro propagation in order to present new insights into albinism from a plant system that offers a unique set of biological phenotypic characteristics. Low transcript levels of genes involved in carotenoids and photosynthesis such as PSY, PDS, LCYƐ, rubS, PEPCase and LHCP suggest a disruption in these processes in albino plants. Due to a high level of genetic similarity being found between the three phenotypes, we analyzed global DNA methylation and different histone marks (H3K4me2, H3K36me2, H3K9ac, H3K9me2 and H3K27me3). Although no significant differences in global 5-methyl deoxicytidine were found, almost a 2-4.5-fold increase in H3K9ac was observed in albino plants in comparison with variegated or green plants, suggesting a change in chromatin compaction related to A. angustifolia albinism. Copyright © 2017 Elsevier B.V. All rights reserved.

  20. Biology and genetics of oculocutaneous albinism and vitiligo - common pigmentation disorders in southern Africa.

    Science.gov (United States)

    Manga, Prashiela; Kerr, Robyn; Ramsay, Michèle; Kromberg, Jennifer G R

    2013-07-29

    Pigmentation disorders span the genetic spectrum from single-gene autosomal recessive disorders such as oculocutaneous albinism (OCA), the autosomal dominant disorder piebaldism to X-linked ocular albinism and multifactorial vitiligo. OCA connotes a group of disorders that result in hypopigmented skin due to decreased melanin production in melanocytes and loss of visual acuity. There are four non-syndromic forms, OCA1-4, which are classified based on the gene that is mutated (tyrosinase, OCA2, tyrosinase-related protein 1 and SLC45A2, respectively). Despite the fact that multiple genes account for the various forms of OCA, the phenotypes of all four forms result from disruption in the maturation and trafficking of the enzyme tyrosinase. OCA2 is the most prevalent autosomal recessive disorder among southern African blacks, affecting 1/3 900 individuals; while OCA3, although rare, is most prevalent in southern Africa. Another common pigmentation disorder in southern Africa is vitiligo, which affects 1 - 2% of people worldwide. Vitiligo is a complex, acquired disorder in which melanocytes are destroyed due to an autoimmune response. The aetiology underlying this disorder is poorly understood, although recent genetic association studies have begun to shed light on the contributing factors. Pigmentation disorders have significant psychosocial implications and co-morbidities, yet therapies are still lacking. Recent progress in our understanding of the pathobiology of both albinism and vitiligo may herald novel treatment strategies for these disorders. 

  1. The role of optical coherence tomography in an atypical case of oculocutaneous albinism: a case report.

    Science.gov (United States)

    Rossi, Settimio; Testa, Francesco; Gargiulo, Annagiusi; Di Iorio, Valentina; Pierri, Raffaella Brunetti; D'Alterio, Francesco Maria; Corte, Michele Della; Surace, Enrico; Simonelli, Francesca

    2012-01-01

    Oculocutaneous albinism is a group of autosomal recessive disorders featuring hypopigmentation of the hair, skin and eyes. Ocular signs associated with the disease are nystagmus, decreased visual acuity, hypopigmentation of the retina, foveal hypoplasia, translucency of the iris, macular transparency, photophobia and abnormal decussation of nerve fibers at the chiasm. An 8-year-old Caucasian girl presented to our clinic 'Referral Center for Hereditary Retinopathies' of the Second University of Naples with a diagnosis of Stargardt disease and a progressive reduction in visual acuity in both eyes. She underwent a complete ophthalmic examination including standard electroretinography and optical coherence tomography (OCT). A molecular analysis was also performed. Best-corrected visual acuity was 20/30 in the right eye and 20/40 in the left eye. Biomicroscopy of the anterior segment revealed a transparent cornea, in situ and transparent lens and normally pigmented iris. A mild diffuse depigmentation and macular dystrophy were observed at fundus examination. Standard electroretinography showed normal scotopic and photopic responses. OCT revealed high reflectivity across the fovea without depression. The typical OCT pattern led us to direct the molecular analysis towards the genes involved in oculocutaneous albinism. The molecular analysis identified mutations in the TYR gene. In this case, the role of OCT was crucial in guiding the molecular analysis for the diagnosis of albinism. OCT is therefore instrumental in similar cases that do not present typical characteristics of a disease. The case also proves the relevance of molecular analysis to confirm clinical diagnoses in hereditary retinal diseases.

  2. Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation

    Science.gov (United States)

    Imes, DL; Geary, LA; Grahn, RA; Lyons, LA

    2006-01-01

    Summary Albino phenotypes are documented in a variety of species including the domestic cat. As albino phenotypes in other species are associated with tyrosinase (TYR) mutations, TYR was proposed as a candidate gene for albinism in cats. An Oriental and Colourpoint Shorthair cat pedigree segregating for albinism was analysed for association with TYR by linkage and sequence analyses. Microsatellite FCA931, which is closely linked to TYR and TYR sequence variants were tested for segregation with the albinism phenotype. Sequence analysis of genomic DNA from wild-type and albino cats identified a cytosine deletion in TYR at position 975 in exon 2, which causes a frame shift resulting in a premature stop codon nine residues downstream from the mutation. The deletion mutation in TYR and an allele of FCA931 segregated concordantly with the albino phenotype. Taken together, our results suggest that the TYR gene corresponds to the colour locus in cats and its alleles, from dominant to recessive, are as follows: C (full colour) > cb (burmese) ≥ cs (siamese) > c (albino). PMID:16573534

  3. Loss of binocular vision as direct cause for misrouting of temporal retinal fibers in albinism.

    Science.gov (United States)

    Banihani, Saleh M

    2015-10-01

    In humans, the nasal retina projects to the contralateral hemisphere, whereas the temporal retina projects ipsilaterally. The nasotemporal line that divides the retina into crossed and uncrossed parts coincides with the vertical meridian through the fovea. This normal projection of the retina is severely altered in albinism, in which the nasotemporal line shifted into the temporal retina with temporal retinal fibers cross the midline at the optic chiasm. This study proposes the loss of binocular vision as direct cause for misrouting of temporal retinal fibers and shifting of the nasotemporal line temporally in albinism. It is supported by many observations that clearly indicate that loss of binocular vision causes uncrossed retinal fibers to cross the midline. This hypothesis may alert scientists and clinicians to find ways to prevent or minimize the loss of binocular vision that may occur in some diseases such as albinism and early squint. Hopefully, this will minimize the misrouting of temporal fibers and improve vision in such diseases. Copyright © 2015 Elsevier Ltd. All rights reserved.

  4. Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches.

    Science.gov (United States)

    Preising, Markus N; Forster, Hedwig; Tan, H; Lorenz, Birgit; de Jong, Paulus T V M; Plomp, Astrid S

    2007-10-02

    To elucidate the molecular basis of oculocutaneous albinism with variable expressivity in a family from The Netherlands in which no consanguinity was reported. Three affected family members were screened for mutations in tyrosinase (TYR) and the pink-eye-dilution gene (P) by using SSCP. The melanocortin receptor gene (MC1R) and amplimers of P showing an aberrant banding pattern in SSCP were analyzed by direct sequencing. All participants underwent ophthalmologic examination including funduscopy, and visually evoked potentials were recorded in two cases. The pedigree had three branches A, B, and C. We identified three mutations in P (V443I, N476S, C793F) that cause a compound heterozygous situation in cases from branch A (N476S/C793F) and B (V443I/C793F), who showed oculocutaneous albinism. Hair and skin color followed the light Nordic complexion that was also present in other affected and unaffected members of this family. Descendants of branches A and B showed light complexion with iris translucency and peripheral fundus hypopigmentation independent from the genotype identified. A single descendant had red hair, carrying a well known compound MC1R mutation combination for red hair color and a single heterozygous P mutation. P mutations underlie oculocutaneous albinism in this family. Two known mutations in MC1R caused red hair color in one family member. No modifier effect of MC1R on P mutations could be deduced from the results of this study.

  5. Oculocutaneous albinism in southern Africa: population structure, health and genetic care.

    Science.gov (United States)

    Lund, P M

    2005-01-01

    People with oculocutaneous albinism (OCA) have reduced levels of melanin in their hair, skin and eyes, with associated visual impairment and extreme sun sensitivity requiring lifelong monitoring. This genetic condition is surrounded by myth, superstition and fear in Africa, where affected individuals and their families may be rejected, shunned and excluded from their community. This review reports population studies in southern Africa to determine the distribution of people with OCA in this predominantly rural and relatively impoverished area-crucial information for health and education providers. Health and genetic care studies document the range of eye and skin problems experienced and suggest effective and sustainable ways to manage these needs in a low resource setting. Innovative genetic care programmes in northern South Africa facilitate low-cost management of albinism, raise self-esteem and promote community awareness, helping to improve the long-term health prospects and social integration of those affected. This holistic approach of dealing with albinism from both a medical and a sociological perspective could be applied in other areas of Africa where this condition is prevalent.

  6. Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism

    Science.gov (United States)

    2013-01-01

    Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes together with leukocyte defects. These disorders include Chediak Higashi (CHS), Griscelli (GS), Hermansky-Pudlak (HPS) and MAPBP-interacting protein deficiency syndromes. These are heterogeneous autosomal recessive conditions in which the causal genes encode proteins with specific roles in the biogenesis, function and trafficking of secretory lysosomes. In certain specialized cells, these organelles serve as a storage compartment. Impaired secretion of specific effector proteins from that intracellular compartment affects biological activities. In particular, these intracellular granules are essential constituents of melanocytes, platelets, granulocytes, cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells. Thus, abnormalities affect pigmentation, primary hemostasis, blood cell counts and lymphocyte cytotoxic activity against microbial pathogens. Among eight genetically distinct types of HPS, only type 2 is characterized by immunodeficiency. Recently, a new subtype, HPS9, was defined in patients presenting with immunodeficiency and oculocutaneous albinism, associated with mutations in the pallidin-encoding gene, PLDN. Hypopigmentation together with recurrent childhood bacterial or viral infections suggests syndromic albinism. T and NK cell cytotoxicity are generally impaired in patients with these disorders. Specific clinical and biochemical phenotypes can allow differential diagnoses among these disorders before molecular testing. Ocular symptoms, including nystagmus, that are usually evident at birth, are common in patients with HPS2 or CHS. Albinism with short stature is unique to MAPBP-interacting protein (MAPBPIP) deficiency, while hemophagocytic lymphohistiocytosis (HLH) mainly suggests a diagnosis of CHS or GS type 2 (GS2). Neurological disease is a long-term complication of CHS, but is uncommon in other syndromic albinism

  7. Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism.

    Science.gov (United States)

    Dotta, Laura; Parolini, Silvia; Prandini, Alberto; Tabellini, Giovanna; Antolini, Maddalena; Kingsmore, Stephen F; Badolato, Raffaele

    2013-10-17

    Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes together with leukocyte defects. These disorders include Chediak Higashi (CHS), Griscelli (GS), Hermansky-Pudlak (HPS) and MAPBP-interacting protein deficiency syndromes. These are heterogeneous autosomal recessive conditions in which the causal genes encode proteins with specific roles in the biogenesis, function and trafficking of secretory lysosomes. In certain specialized cells, these organelles serve as a storage compartment. Impaired secretion of specific effector proteins from that intracellular compartment affects biological activities. In particular, these intracellular granules are essential constituents of melanocytes, platelets, granulocytes, cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells. Thus, abnormalities affect pigmentation, primary hemostasis, blood cell counts and lymphocyte cytotoxic activity against microbial pathogens. Among eight genetically distinct types of HPS, only type 2 is characterized by immunodeficiency. Recently, a new subtype, HPS9, was defined in patients presenting with immunodeficiency and oculocutaneous albinism, associated with mutations in the pallidin-encoding gene, PLDN.Hypopigmentation together with recurrent childhood bacterial or viral infections suggests syndromic albinism. T and NK cell cytotoxicity are generally impaired in patients with these disorders. Specific clinical and biochemical phenotypes can allow differential diagnoses among these disorders before molecular testing. Ocular symptoms, including nystagmus, that are usually evident at birth, are common in patients with HPS2 or CHS. Albinism with short stature is unique to MAPBP-interacting protein (MAPBPIP) deficiency, while hemophagocytic lymphohistiocytosis (HLH) mainly suggests a diagnosis of CHS or GS type 2 (GS2). Neurological disease is a long-term complication of CHS, but is uncommon in other syndromic albinism. Chronic

  8. A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism.

    Science.gov (United States)

    Caduff, M; Bauer, A; Jagannathan, V; Leeb, T

    2017-10-01

    Oculocutaneous albinism type 4 (OCA4) in humans and similar phenotypes in many animal species are caused by variants in the SLC45A2 gene, encoding a putative sugar transporter. In dog, two independent SLC45A2 variants are known that cause oculocutaneous albinism in Doberman Pinschers and several small dog breeds respectively. For the present study, we investigated a Bullmastiff with oculocutaneous albinism. The affected dog was highly inbred and resulted from the mating of a sire to its own grandmother. We obtained whole genome sequence data from the affected dog and searched specifically for variants in candidate genes known to cause albinism. We detected a single base deletion in exon 6 of the SLC45A2 gene (NM_001037947.1:c.1287delC) that has not been reported thus far. This deletion is predicted to result in an early premature stop codon. It was confirmed by Sanger sequencing and perfectly co-segregated with the phenotype in the available family members. We genotyped 174 unrelated dogs from diverse breeds, all of which were homozygous wildtype. We therefore suggest that SLC45A2:c.1287delC causes the observed oculocutaneous albinism in the affected Bullmastiff. © 2017 Stichting International Foundation for Animal Genetics.

  9. [Identification of a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism].

    Science.gov (United States)

    Zhao, Qi; Guan, Menglong; Wang, Ling; Liao, Yong; Li-Ling, Jesse; Wan, Huajing

    2017-04-10

    To detect mutation of GPR143 gene in a Chinese patient affected with ocular albinism. Peripheral blood samples were collected from the proband and his parents. The coding regions of the GPR143 gene were subjected to PCR amplification and Sanger sequencing. A previously unreported mutation (c.758T>A) was found in exon 6 of the GPR143 gene in the proband and his mother. The same mutation was not found in his father. As predicted, the mutation has resulted in a stop codon, causing premature termination of protein translation. A novel mutation of the GPR143 gene related to X-linked ocular albinism has been identified.

  10. The Role of Optical Coherence Tomography in an Atypical Case of Oculocutaneous Albinism: A Case Report

    Directory of Open Access Journals (Sweden)

    Settimio Rossi

    2012-03-01

    Full Text Available Background: Oculocutaneous albinism is a group of autosomal recessive disorders featuring hypopigmentation of the hair, skin and eyes. Ocular signs associated with the disease are nystagmus, decreased visual acuity, hypopigmentation of the retina, foveal hypoplasia, translucency of the iris, macular transparency, photophobia and abnormal decussation of nerve fibers at the chiasm. Case Report: An 8-year-old Caucasian girl presented to our clinic ‘Referral Center for Hereditary Retinopathies’ of the Second University of Naples with a diagnosis of Stargardt disease and a progressive reduction in visual acuity in both eyes. She underwent a complete ophthalmic examination including standard electroretinography and optical coherence tomography (OCT. A molecular analysis was also performed. Best-corrected visual acuity was 20/30 in the right eye and 20/40 in the left eye. Biomicroscopy of the anterior segment revealed a transparent cornea, in situ and transparent lens and normally pigmented iris. A mild diffuse depigmentation and macular dystrophy were observed at fundus examination. Standard electroretinography showed normal scotopic and photopic responses. OCT revealed high reflectivity across the fovea without depression. The typical OCT pattern led us to direct the molecular analysis towards the genes involved in oculocutaneous albinism. The molecular analysis identified mutations in the TYR gene. Conclusion: In this case, the role of OCT was crucial in guiding the molecular analysis for the diagnosis of albinism. OCT is therefore instrumental in similar cases that do not present typical characteristics of a disease. The case also proves the relevance of molecular analysis to confirm clinical diagnoses in hereditary retinal diseases.

  11. Dealing with the other between the ethical and the moral: albinism on the African continent.

    Science.gov (United States)

    Imafidon, Elvis

    2017-04-01

    Albinism is a global public health issue but it assumes a peculiar nature in the African continent due, in part, to the social stigma faced by persons with albinism (PWAs) in Africa. I argue that there are two essential reasons for this precarious situation. First, in the African consciousness, albinism is an alterity or otherness. The PWA in Africa is not merely a physical other but also an ontological other in the African community of beings, which provides a hermeneutic for the stigmatising separateness or difference of the PWA. The second reason hinges on a distinction drawn by Jürgen Habermas between the ethical point of view and the moral point of view. While the former consists of the ethos, customs, or idea of the good shared by a group of persons with a shared tradition or way of life, the latter consists of what is good for all and transcends particular traditions or ways of life. Consequently, the African ethical point of view, the ethics of solidarity, justifies within the African worldview the established alterity and, by implication, stigmatization of PWAs. On this view, actions that promote harmony and prevent discord and disequilibrium among accepted beings in the African community are permissible. I further show that unless there is a change in the physical and ontological conception of PWAs and a leap from the ethical point of view to the moral point of view, the negative attitudes toward PWAs will not change. The leap to the moral point of view does not suggest an abandonment of the ethical point of view but only recommends that the two meet halfway in respect for universally accepted norms of human actions. To achieve this, I will show that much needs to be done in the areas of policy formulation, law, health care services, and education.

  12. Lack of adequate sun protection for children with oculocutaneous albinism in South Africa

    Directory of Open Access Journals (Sweden)

    Taylor Julie S

    2008-06-01

    Full Text Available Abstract Background Childhood is a high risk time for ultraviolet induced skin damage as this age group has more time and opportunity to be outdoors in the sun. Children in Africa with the inherited condition oculocutaneous albinism (OCA are especially vulnerable due to their lack of protective melanin. They are highly susceptible to developing skin lesions that have both cosmetic and health complications, with a high risk of developing skin cancers. The study aimed to explore the adequacy of sun protection strategies of children with albinism in order to inform future provision. Methods Community based participatory research methods were employed to investigate sun protection strategies in 90 pupils with OCA (40 female and 50 male boarding at a special school educating pupils with visual impairment in a rural area of northern South Africa. Hats worn and sunscreen preparations used were examined during semi-structured face to face interviews conducted in small peer groups. The resident nurse interpreted if necessary and provided additional information on monitoring and treatment of skin lesions. Results Participants with albinism in this study were exposed to high levels of ultraviolet radiation throughout the year and showed skin damage despite wearing protective head gear. All except one pupil possessed at least one hat, with a mean brim width of 5.4 cm. Gender differences in sun avoidance behaviour were documented, with females seeking shade during recreational periods and males playing soccer outside. Although 38% of pupils were using a sunscreen with a sun protection factor (SPF rating, only 12% had government sponsored tubes of SPF15 cream. Government sponsored sunscreen preparations were only provided if actively sought, involving time consuming trips to regional hospitals, with inadequate availability and insufficient supply. Conclusion Children with albinism living away from home in rural areas appear to have inadequate sun protection

  13. Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.

    Science.gov (United States)

    Wang, Yun; Wang, Zhi; Chen, Mengping; Fan, Ning; Yang, Jie; Liu, Lu; Wang, Ying; Liu, Xuyang

    2015-01-01

    Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR) and OCA2 gene, respectively. The purpose of this study was to evaluate the molecular basis of oculocutaneous albinism in four Chinese families. Four non-consanguineous OCA families were included in the study. The TYR and OCA2 genes of all individuals were amplified by polymerase chain reaction (PCR), sequenced and compared with a reference database. Four patients with a diagnosis of oculocutaneous albinism, presented with milky skin, white or light brown hair and nystagmus. Genetic analyses demonstrated that patient A was compound heterozygous for c.1037-7T.A, c.1037-10_11delTT and c.1114delG mutations in the TYR gene; patient B was heterozygous for c.593C>T and c.1426A>G mutations in the OCA2 gene, patients C and D were compound heterozygous mutations in the TYR gene (c.549_550delGT and c.896G>A, c.832C>T and c.985T>C, respectively). The heterozygous c.549_550delGT and c.1114delG alleles in the TYR gene were two novel mutations. Interestingly, heterozygous members in these pedigrees who carried c.1114delG mutations in the TYR gene or c.1426A>G mutations in the OCA2 gene presented with blond or brown hair and pale skin, but no ocular disorders when they were born; the skin of these patients accumulated pigment over time and with sun exposure. This study expands the mutation spectrum of oculocutaneous albinism. It is the first time, to the best of our knowledge, to report that c.549_550delGT and c.1114delG mutations in the TYR gene were associated with OCA. The two mutations (c.1114delG in the TYR gene and c.1426A>G in the OCA2 gene) may be responsible for partial clinical manifestations of OCA.

  14. Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.

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    Yun Wang

    Full Text Available Oculocutaneous albinism (OCA is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR and OCA2 gene, respectively.The purpose of this study was to evaluate the molecular basis of oculocutaneous albinism in four Chinese families.Four non-consanguineous OCA families were included in the study. The TYR and OCA2 genes of all individuals were amplified by polymerase chain reaction (PCR, sequenced and compared with a reference database.Four patients with a diagnosis of oculocutaneous albinism, presented with milky skin, white or light brown hair and nystagmus. Genetic analyses demonstrated that patient A was compound heterozygous for c.1037-7T.A, c.1037-10_11delTT and c.1114delG mutations in the TYR gene; patient B was heterozygous for c.593C>T and c.1426A>G mutations in the OCA2 gene, patients C and D were compound heterozygous mutations in the TYR gene (c.549_550delGT and c.896G>A, c.832C>T and c.985T>C, respectively. The heterozygous c.549_550delGT and c.1114delG alleles in the TYR gene were two novel mutations. Interestingly, heterozygous members in these pedigrees who carried c.1114delG mutations in the TYR gene or c.1426A>G mutations in the OCA2 gene presented with blond or brown hair and pale skin, but no ocular disorders when they were born; the skin of these patients accumulated pigment over time and with sun exposure.This study expands the mutation spectrum of oculocutaneous albinism. It is the first time, to the best of our knowledge, to report that c.549_550delGT and c.1114delG mutations in the TYR gene were associated with OCA. The two mutations (c.1114delG in the TYR gene and c.1426A>G in the OCA2 gene may be responsible for partial clinical manifestations of OCA.

  15. Lack of adequate sun protection for children with oculocutaneous albinism in South Africa

    Science.gov (United States)

    Lund, Patricia M; Taylor, Julie S

    2008-01-01

    Background Childhood is a high risk time for ultraviolet induced skin damage as this age group has more time and opportunity to be outdoors in the sun. Children in Africa with the inherited condition oculocutaneous albinism (OCA) are especially vulnerable due to their lack of protective melanin. They are highly susceptible to developing skin lesions that have both cosmetic and health complications, with a high risk of developing skin cancers. The study aimed to explore the adequacy of sun protection strategies of children with albinism in order to inform future provision. Methods Community based participatory research methods were employed to investigate sun protection strategies in 90 pupils with OCA (40 female and 50 male) boarding at a special school educating pupils with visual impairment in a rural area of northern South Africa. Hats worn and sunscreen preparations used were examined during semi-structured face to face interviews conducted in small peer groups. The resident nurse interpreted if necessary and provided additional information on monitoring and treatment of skin lesions. Results Participants with albinism in this study were exposed to high levels of ultraviolet radiation throughout the year and showed skin damage despite wearing protective head gear. All except one pupil possessed at least one hat, with a mean brim width of 5.4 cm. Gender differences in sun avoidance behaviour were documented, with females seeking shade during recreational periods and males playing soccer outside. Although 38% of pupils were using a sunscreen with a sun protection factor (SPF) rating, only 12% had government sponsored tubes of SPF15 cream. Government sponsored sunscreen preparations were only provided if actively sought, involving time consuming trips to regional hospitals, with inadequate availability and insufficient supply. Conclusion Children with albinism living away from home in rural areas appear to have inadequate sun protection strategies. Changes in

  16. Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.

    Science.gov (United States)

    George, Aman; Zand, Dina J; Hufnagel, Robert B; Sharma, Ruchi; Sergeev, Yuri V; Legare, Janet M; Rice, Gregory M; Scott Schwoerer, Jessica A; Rius, Mariana; Tetri, Laura; Gamm, David M; Bharti, Kapil; Brooks, Brian P

    2016-12-01

    Human MITF is, by convention, called the "microphthalmia-associated transcription factor" because of previously published seminal mouse genetic studies; however, mutations in MITF have never been associated with microphthalmia in humans. Here, we describe a syndrome that we term COMMAD, characterized by coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness. COMMAD is associated with biallelic MITF mutant alleles and hence suggests a role for MITF in regulating processes such as optic-fissure closure and bone development or homeostasis, which go beyond what is usually seen in individuals carrying monoallelic MITF mutations. Copyright © 2016. Published by Elsevier Inc.

  17. Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4

    NARCIS (Netherlands)

    Verhagen, Judith M. A.; Huijmans, Jan G.; Williams, Monique; van Ruyven, Rutger L. J.; Bergen, Arthur A. B.; Wouters, Cokkie H.; Brooks, Alice S.

    2012-01-01

    Genome-wide studies may lead to the discovery of genetic variants of potential clinical importance beyond the aims of the study. We performed single nucleotide polymorphism array analysis in a boy with oculocutaneous albinism to identify copy-neutral regions of homozygosity harboring genes involved

  18. Oculocutaneous albinism and the oral manifestation in a 14-year-old boy - A case report and review of literature

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    Deepak Sharma

    2017-01-01

    Full Text Available Albinism consists of a group of genetically inherited autosomal recessive conditions which are typically characterized by a congenital reduction or absence in melanin pigment biosynthesis which gives the natural color in the skin, iris of the eyes, and hair. A person with albinism may have one or many of the following symptoms: absence of color in the hair, skin, or iris of the eye, lighter than normal skin and hair, patchy, missing skin color, crossed eyes (strabismus, light sensitivity (photophobia, rapid eye movements (nystagmus, vision problems, or functional blindness, severe gingivitis, oral mucosal ulceration, and periodontal disease. A dentist can play a significant role in successfully treating albino patients if he/she has basic knowledge of the symptoms of albinism. We present a case report of a 14-year-old child suffering from oculocutaneous albinism who was reported to the Department of Periodontology, Himachal Pradesh Government Dental College and Hospital, Shimla, Himachal Pradesh, with a chief complaint of bleeding gums and oral malodor.

  19. A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism.

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    Naihong Yan

    Full Text Available BACKGROUND: The purpose of this study was to elucidate the molecular basis of ocular albinism type I in a Chinese pedigree. METHODOLOGY/PRINCIPAL FINDINGS: Complete ophthalmologic examinations were performed on 4 patients, 7 carriers and 17 unaffected individuals in this five-generation family. All coding exons of four-point-one (4.1, ezrin, radixin, moesin (FERM domain-containing 7 (FRMD7 and G protein-coupled receptor 143 (GPR143 genes were amplified by polymerase chain reaction (PCR, sequenced and compared with a reference database. Ocular albinism and nystagmus were found in all patients of this family. Macular hypoplasia was present in the patients including the proband. A novel nonsense hemizygous mutation c.807T>A in the GPR143 gene was identified in four patients and the heterozygous mutation was found in seven asymptomatic individuals. This mutation is a substitution of tyrosine for adenine which leads to a premature stop codon at position 269 (p.Y269X of GPR143. CONCLUSIONS/SIGNIFICANCE: This is the first report that p.Y269X mutation of GPR143 gene is responsible for the pathogenesis of familial ocular albinism. These results expand the mutation spectrum of GPR143, and demonstrate the clinical characteristics of ocular albinism type I in Chinese population.

  20. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

    NARCIS (Netherlands)

    Bassi, M. T.; Schiaffino, M. V.; Renieri, A.; de Nigris, F.; Galli, L.; Bruttini, M.; Gebbia, M.; Bergen, A. A.; Lewis, R. A.; Ballabio, A.

    1995-01-01

    Ocular albinism type 1 (OA1) is an X-linked disorder characterized by severe impairment of visual acuity, retinal hypopigmentation and the presence of macromelanosomes. We isolated a novel transcript from the OA1 critical region in Xp22.3-22.2 which is expressed at high levels in RNA samples from

  1. Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis

    NARCIS (Netherlands)

    Bergen, A. A.; Schuurman, E. J.; van den Born, L. I.; Samanns, C.; van Dorp, D. B.; Pinckers, A. J.; Bakker, E.; van Ommen, G. J.; Gal, A.; Bleeker-Wagemakers, E. M.

    1992-01-01

    X-linked ocular albinism (XOA) is characterized by anomalies of the eyes and hypopigmentation or absence of pigment in skin, hair and eyes due to a hereditary inborn error of metabolism affecting the pigment cells. The gene of XOA of the Nettleship-Falls type (OA1) has been mapped to Xp22.3, and

  2. Skin flora: Differences between people affected by Albinism and those with normally pigmented skin in Northern Tanzania - cross sectional study.

    Science.gov (United States)

    Kiprono, Samson K; Masenga, John E; Chaula, Baraka M; Naafs, Bernard

    2012-07-30

    Skin flora varies from one site of the body to another. Individual's health, age and gender determine the type and the density of skin flora. A 1  cm² of the skin on the sternum was rubbed with sterile cotton swab socked in 0.9% normal saline and plated on blood agar. This was cultured at 35 °C. The bacteria were identified by culturing on MacConkey agar, coagulase test, catalase test and gram staining. Swabs were obtained from 66 individuals affected by albinism and 31 individuals with normal skin pigmentation. Those with normal skin were either relatives or staying with the individuals affected by albinism who were recruited for the study. The mean age of the 97 recruited individuals was 30.6 (SD ± 14.9) years. The mean of the colony forming units was 1580.5 per cm2. Those affected by albinism had a significantly higher mean colony forming units (1680  CFU per cm²) as compared with 453.5  CFU per cm² in those with normally pigmented skin (p = 0.023). The skin type and the severity of sun- damaged skin was significantly associated with a higher number of colony forming units (p = 0.038). Individuals affected by albinism have a higher number of colony forming units which is associated with sun- damaged skin.

  3. DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

    Science.gov (United States)

    Simeonov, Dimitre R; Wang, Xinjing; Wang, Chen; Sergeev, Yuri; Dolinska, Monika; Bower, Matthew; Fischer, Roxanne; Winer, David; Dubrovsky, Genia; Balog, Joan Z; Huizing, Marjan; Hart, Rachel; Zein, Wadih M; Gahl, William A; Brooks, Brian P; Adams, David R

    2013-06-01

    Oculocutaneous albinism (OCA) is a rare genetic disorder of melanin synthesis that results in hypopigmented hair, skin, and eyes. There are four types of OCA caused by mutations in TYR (OCA-1), OCA2 (OCA-2), TYRP1 (OCA-3), or SLC45A2 (OCA-4). Here we report 22 novel mutations in the OCA genes; 14 from a cohort of 61 patients seen as part of the NIH OCA Natural History Study and eight from a prior study at the University of Minnesota. We also include a comprehensive list of almost 600 previously reported OCA mutations along with ethnicity information, carrier frequencies, and in silico pathogenicity predictions as a supplement. In addition to discussing the clinical and molecular features of OCA, we address the cases of apparent missing heritability. In our cohort, 26% of patients did not have two mutations in a single OCA gene. We demonstrate the utility of multiple detection methods to reveal mutations missed by Sanger sequencing. Finally, we review the TYR p.R402Q temperature-sensitive variant and confirm its association with cases of albinism with only one identifiable TYR mutation. © 2013 Wiley Periodicals, Inc.

  4. Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.

    Science.gov (United States)

    Dolinska, Monika B; Kus, Nicole J; Farney, S Katie; Wingfield, Paul T; Brooks, Brian P; Sergeev, Yuri V

    2017-01-01

    Oculocutaneous albinism type 1 (OCA1) is an autosomal recessive disorder caused by mutations in the tyrosinase gene. Two subtypes of OCA1 have been described: severe OCA1A with complete absence of tyrosinase activity and less severe OCA1B with residual tyrosinase activity. Here, we characterize the recombinant human tyrosinase intramelanosomal domain and mutant variants, which mimic genetic changes in both subtypes of OCA1 patients. Proteins were prepared using site-directed mutagenesis, expressed in insect larvae, purified by chromatography, and characterized by enzymatic activities, tryptophan fluorescence, and Gibbs free energy changes. The OCA1A mutants showed very low protein expression and protein yield and are enzymatically inactive. Mutants mimicking OCA1B were biochemically similar to the wild type, but exhibited lower specific activities and protein stabilities. The results are consistent with clinical data, which indicates that OCA1A mutations inactivate tyrosinase and result in severe phenotype, while OCA1B mutations partially inactivate tyrosinase and result in OCA1B albinism. Published 2017. This article is a U.S. Government work and is in the public domain in the USA.

  5. [Prenatal diagnosis of oculocutaneous albinism type IV and discovery of a novel mutation].

    Science.gov (United States)

    Pang, Ting; Lei, Jie; Zheng, Hui; Xu, Bei; Jiang, Wei-ying; Li, Hong-yi

    2011-02-01

    To provide guidance for clinical genetic counseling and prenatal diagnosis of oculocutaneous albinism (OCA) in China. PCR and automatic DNA sequencing were applied to obtain the genotypes of the patients and their parents in three Chinese albinism families. Prenatal gene diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) or by amniocentesis at mid-pregnancy. The three patients were all OCA4, whose genotypes were G349R/c.870delC, G349R/P419L and G349R/D160H, respectively. The three couples had been diagnosed as carriers. In family 1, the first fetus was diagnosed as affected. Termination of pregnancy was opted following genetic counseling. The second fetus (monozygotic twin) was heterozygous only with the paternal G349R mutation. The fetus in family 2 did not get either one of the two mutations. The fetus in family 3 was heterozygous only with the paternal G349R mutation. This study detected three reported pathogenic mutations of the membrane associated transporter protein gene (MATP), including G349R, D160H and P419L, and identified a novel pathogenic mutation c.870delC. The prenatal gene diagnosis of OCA4 will be important to prevent the birth of affected child.

  6. DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

    Science.gov (United States)

    Simeonov, Dimitre R.; Wang, Xinjing; Wang, Chen; Sergeev, Yuri; Dolinska, Monika; Bower, Matthew; Fischer, Roxanne; Winer, David; Dubrovsky, Genia; Balog, Joan Z.; Huizing, Marjan; Hart, Rachel; Zein, Wadih M.; Gahl, William A.; Brooks, Brian P.; Adams, David R.

    2014-01-01

    Oculocutaneous albinism (OCA) is a rare genetic disorder of melanin synthesis that results in hypopigmented hair, skin, and eyes. There are four types of OCA, caused by mutations in TYR (OCA-1), OCA2 (OCA-2), TYRP1 (OCA-3), or SLC45A2 (OCA-4). Here we report 22 novel mutations; 14 from a cohort of 61 patients seen as part of the NIH OCA Natural History Study and 8 from a prior study at the University of Minnesota. We also include a comprehensive list of almost 600 previously reported OCA mutations, along with ethnicity information, carrier frequencies, and in silico pathogenicity predictions. In addition to discussing the clinical and molecular features of OCA, we address the cases of apparent missing heritability. In our cohort, 25% of patients did not have two mutations in a single OCA gene. We demonstrate the utility of multiple detection methods to reveal mutations missed by Sanger sequencing. Finally, we review the TYR p.R402Q temperature sensitive variant and confirm its association with cases of albinism with only one identifiable TYR mutation. PMID:23504663

  7. Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism.

    Science.gov (United States)

    Gradstein, Libe; Hansen, Ronald M; Cox, Gerald F; Altschwager, Pablo; Fulton, Anne B

    2017-04-01

    We report for the first time electroretinographic (ERG) evidence of progressive retinal abnormalities in a girl who presented in infancy with ocular features of albinism and gradually developed choroidal sclerosis and patchy retinal atrophy leading to a diagnosis of Knobloch syndrome (KS, OMIM 267750, COL18A1). At age 2 months, nystagmus and esotropia prompted ophthalmic evaluation. The appearance of choroidal sclerosis and atrophic retinal patches led to further evaluation at age 8 years. Genetics consultation was obtained in infancy and again at age 8 years as retinal findings evolved. Full field ERG responses in both scotopic and photopic conditions were recorded at both ages and compared to those in healthy control subjects. At age 2 months ERG response parameters were within normal limits for age and tyrosinase (TYR) gene sequencing revealed one novel mutation, p.S466F, and the temperature-sensitive polymorphism, p.R402Q, suggesting the diagnosis of oculocutaneous albinism type 1 (OCA1). At age 8 years, there was significant attenuation of both scotopic and photopic ERG responses. Genetic re-analysis led to the identification of a homozygous mutation, c.3213dupC, in the COL18A1 gene, thus confirming the diagnosis of Knobloch syndrome. Our patient with Knobloch syndrome developed abnormal ERG responses similar to those found in col18a1 knockout mice. Thus, we have documented progressive attenuation of the scotopic and photopic responses in KS.

  8. Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

    Science.gov (United States)

    Poulter, James A; Al-Araimi, Musallam; Conte, Ivan; van Genderen, Maria M; Sheridan, Eamonn; Carr, Ian M; Parry, David A; Shires, Mike; Carrella, Sabrina; Bradbury, John; Khan, Kamron; Lakeman, Phillis; Sergouniotis, Panagiotis I; Webster, Andrew R; Moore, Anthony T; Pal, Bishwanath; Mohamed, Moin D; Venkataramana, Anandula; Ramprasad, Vedam; Shetty, Rohit; Saktivel, Murugan; Kumaramanickavel, Govindasamy; Tan, Alex; Mackey, David A; Hewitt, Alex W; Banfi, Sandro; Ali, Manir; Inglehearn, Chris F; Toomes, Carmel

    2013-12-05

    Foveal hypoplasia and optic nerve misrouting are developmental defects of the visual pathway and only co-occur in connection with albinism; to date, they have only been associated with defects in the melanin-biosynthesis pathway. Here, we report that these defects can occur independently of albinism in people with recessive mutations in the putative glutamine transporter gene SLC38A8. Nine different mutations were identified in seven Asian and European families. Using morpholino-mediated ablation of Slc38a8 in medaka fish, we confirmed that pigmentation is unaffected by loss of SLC38A8. Furthermore, by undertaking an association study with SNPs at the SLC38A8 locus, we showed that common variants within this gene modestly affect foveal thickness in the general population. This study reveals a melanin-independent component underpinning the development of the visual pathway that requires a functional role for SLC38A8. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  9. Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family.

    Science.gov (United States)

    Yahalom, Claudia; Sharon, Dror; Dalia, Eli; Simhon, Shiran Ben; Shemesh, Efrat; Blumenfeld, Anat

    2015-06-01

    To characterize clinical and genetic aspects of a family with a unique combination of two hereditary blinding eye diseases. Comprehensive eye examination of proband and family members. Molecular analyses of the TYR and PAX6 genes. A young couple, both legally blind, requested genetic counselling regarding their ocular condition. The female was previously diagnosed with oculocutaneous albinism (OCA1A) and her spouse was diagnosed with Peters anomaly. A comprehensive clinical examination revealed that the female had OCA1A combined with signs of another ocular disease, showing some similarity to aniridia. A complete ocular examination of her family members revealed that her brother also suffered from the same combined phenotype, her father had typical OCA1A signs, and her mother and sister had aniridia-like phenotype, without clinical diagnosis until the time of presentation. Molecular analysis identified two compound heterozygous TYR mutations known to cause OCAIA and cosegregate with oculocutaneous albinism. In addition, we identified a novel heterozygous PAX6 mutation confirming the atypical aniridia phenotype. We report here a unique and rare clinical phenotype that is explained by the segregation of two severe inherited eye diseases. The clinical and genetic analysis in this family allowed them to receive accurate genetic counseling.

  10. MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).

    Science.gov (United States)

    King, Richard A; Willaert, Rebecca K; Schmidt, Ramona M; Pietsch, Jacy; Savage, Sarah; Brott, Marcia J; Fryer, James P; Summers, C Gail; Oetting, William S

    2003-09-01

    The heterogeneous group of disorders known as oculocutaneous albinism (OCA) shares cutaneous and ocular hypopigmentation associated with common developmental abnormalities of the eye. Mutations of at least 11 loci produce this phenotype. The majority of affected individuals develop some cutaneous melanin; this is predominantly seen as yellow/blond hair, whereas fewer have brown hair. The OCA phenotype is dependent on the constitutional pigmentation background of the family, with more OCA pigmentation found in families with darker constitutional pigmentation, which indicates that other genes may modify the OCA phenotype. Sequence variation in the melanocortin-1 receptor (MC1R) gene is associated with red hair in the normal population, but red hair is unusual in OCA. We identified eight probands with OCA who had red hair at birth. Mutations in the P gene were responsible for classic phenotype of oculocutaneous albinism type 2 (OCA2) in all eight, and mutations in the MC1R gene were responsible for the red (rather than yellow/blond) hair in the six of eight who continued to have red hair after birth. This is the first demonstration of a gene modifying the OCA phenotype in humans.

  11. Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).

    Science.gov (United States)

    Norman, Chelsea S; O'Gorman, Luke; Gibson, Jane; Pengelly, Reuben J; Baralle, Diana; Ratnayaka, J Arjuna; Griffiths, Helen; Rose-Zerilli, Matthew; Ranger, Megan; Bunyan, David; Lee, Helena; Page, Rhiannon; Newall, Tutte; Shawkat, Fatima; Mattocks, Christopher; Ward, Daniel; Ennis, Sarah; Self, Jay E

    2017-06-30

    Oculocutaneous albinism (OCA) and ocular albinism (OA) are inherited disorders of melanin biosynthesis, resulting in loss of pigment and severe visual deficits. OCA encompasses a range of subtypes with overlapping, often hypomorphic phenotypes. OCA1 is the most common cause of albinism in European populations and is inherited through autosomal recessive mutations in the Tyrosinase (TYR) gene. However, there is a high level of reported missing heritability, where only a single heterozygous mutation is found in TYR. This is also the case for other OCA subtypes including OCA2 caused by mutations in the OCA2 gene. Here we have interrogated the genetic cause of albinism in a well phenotyped, hypomorphic albinism population by sequencing a broad gene panel and performing segregation studies on phenotyped family members. Of eighteen probands we can confidently diagnose three with OA and OCA2, and one with a PAX6 mutation. Of six probands with only a single heterozygous mutation in TYR, all were found to have the two common variants S192Y and R402Q. Our results suggest that a combination of R402Q and S192Y with a deleterious mutation in a 'tri-allelic genotype' can account for missing heritability in some hypomorphic OCA1 albinism phenotypes.

  12. Dömda att leva i skuggan : En kvalitativ intervjustudie om hälsan hos personer med albinism i Rwanda, utifrån begreppen diskriminering, coping och socialt stöd

    OpenAIRE

    Niyonkuru, Elsie Diane

    2016-01-01

    Bakgrund: Oculocutaneous albinism (OCA) är en ärftlig sjukdom som fysiskt, psykiskt och socialt påverkar de drabbade individerna. Okunskap, fördomar och myter om albinism utgör de största orsakerna till den diskriminering som personer med albinism utsatts för särskilt i vissa länder i Afrika söder om Sahara. Syfte: Syftet är att beskriva hälsan hos personer med albinism i Rwanda, utifrån begreppen diskriminering, coping och socialt stöd. Metod: En kvalitativ metod med induktiv ansats ligger t...

  13. Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.

    Science.gov (United States)

    Suzuki, Tamio; Miyamura, Yoshinori; Matsunaga, Jun; Shimizu, Hiroshi; Kawachi, Yasuhiro; Ohyama, Naoko; Ishikawa, Osamu; Ishikawa, Tomoyuki; Terao, Hiroshi; Tomita, Yasushi

    2003-05-01

    Type 2 oculocutaneous albinism (OCA2) is an autosomal recessive disorder that results from mutations in the P gene that codes one of the melanosomal proteins, the function of which remains unknown. In this paper, we report the frequency of OCA2, 8%, among the Japanese albino population, six novel mutations containing four missense substitutions (P198L, P211L, R10W, M398I), and two splice site mutations (IVS15+1 G>A, IVS24-1 G>C). One of them, R10W, was within the putative signal peptide at the N-terminal of the P protein. This is the first report on the frequency of OCA2 in the Japanese albino population.

  14. Oculocutaneous albinism in sub-Saharan Africa: adverse sun-associated health effects and photoprotection.

    Science.gov (United States)

    Wright, Caradee Y; Norval, Mary; Hertle, Richard W

    2015-01-01

    Oculocutaneous albinism (OCA) is a genetically inherited autosomal recessive condition. Individuals with OCA lack melanin and therefore are susceptible to the harmful effects of solar ultraviolet radiation, including extreme sun sensitivity, photophobia and skin cancer. OCA is a grave public health issue in sub-Saharan Africa with a prevalence as high as 1 in 1000 in some tribes. This article considers the characteristics and prevalence of OCA in sub-Saharan African countries. Sun-induced adverse health effects in the skin and eyes of OCA individuals are reviewed. Sun exposure behavior and the use of photoprotection for the skin and eyes are discussed to highlight the major challenges experienced by these at-risk individuals and how these might be best resolved. © 2014 The American Society of Photobiology.

  15. [A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis].

    Science.gov (United States)

    Zhang, Liyun; Xu, Bei; Zhong, Yanfang; Chen, Xiaofei; Zheng, Hui; Jiang, Weiying; Li, Hongyi

    2013-06-01

    To determine the genotype of a family affected with oculocutaneous albinism (OCA) and to provide genetic counseling and prenatal diagnosis. To determine the genotypes and mutational sites through PCR and sequencing for all exons and exon-intron junctions of 4 OCA genes in the proband and the P gene of her parents. Prenatal genotyping of the fetus was carried out using amniocentesis sample. The patient was diagnosed with OCA2 based on a genotype of c.1327G>A/c.2360C>T. Her father was heterozygous for c.2360C> T, whilst her mother has none of the two mutations. c.1327G>A is therefore a maternal de novo mutation. Neither of the mutations was found in the fetus. A maternally inherited de novo mutation c.1327G>A has been identified in the patient. In order to detect de novo mutations, full sequence analysis is necessary.

  16. Generation of human embryonic stem cells from abnormal blastocyst diagnosed with albinism.

    Science.gov (United States)

    Sun, Yi; Zhou, Xiaoying; Chen, Jing; Du, Juan; Lu, Guangxiu; Lin, Ge; Ouyang, Qi

    2016-11-01

    Human embryonic stem cell (hESC) line chHES-478 was derived from abnormal blastocyst diagnosed with albinism after preimplantation genetic diagnosis (PGD) treatment. DNA sequencing analysis confirmed that chHES-478 cell line carried a compound heterozygous mutation, c.896G>A(p.Arg299His) and c.929_930insC(p.Pro310Glnfs*9), of TYR gene. Characteristic tests proved that the chHES-478 cell line presented typical markers of pluripotency and had the capability to form the three germ layers both in vitro and in vivo. Copyright © 2016 Michael Boutros, German Cancer Research Center, Heidelberg, Germany. Published by Elsevier B.V. All rights reserved.

  17. OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism.

    Science.gov (United States)

    Caduff, Madleina; Bauer, Anina; Jagannathan, Vidhya; Leeb, Tosso

    2017-01-01

    We investigated a German Spitz family where the mating of a black male to a white female had yielded three puppies with an unexpected light brown coat color, lightly pigmented lips and noses, and blue eyes. Combined linkage and homozygosity analysis based on a fully penetrant monogenic autosomal recessive mode of inheritance identified a critical interval of 15 Mb on chromosome 3. We obtained whole genome sequence data from one affected dog, three wolves, and 188 control dogs. Filtering for private variants revealed a single variant with predicted high impact in the critical interval in LOC100855460 (XM_005618224.1:c.377+2T>G LT844587.1:c.-45+2T>G). The variant perfectly co-segregated with the phenotype in the family. We genotyped 181 control dogs with normal pigmentation from diverse breeds including 22 unrelated German Spitz dogs, which were all homozygous wildtype. Comparative sequence analyses revealed that LOC100855460 actually represents the 5'-end of the canine OCA2 gene. The CanFam 3.1 reference genome assembly is incorrect and separates the first two exons from the remaining exons of the OCA2 gene. We amplified a canine OCA2 cDNA fragment by RT-PCR and determined the correct full-length mRNA sequence (LT844587.1). Variants in the OCA2 gene cause oculocutaneous albinism type 2 (OCA2) in humans, pink-eyed dilution in mice, and similar phenotypes in corn snakes, medaka and Mexican cave tetra fish. We therefore conclude that the observed oculocutaneous albinism in German Spitz is most likely caused by the identified variant in the 5'-splice site of the first intron of the canine OCA2 gene.

  18. Refractive profile in oculocutaneous albinism and its correlation with final visual outcome.

    Science.gov (United States)

    Yahalom, Claudia; Tzur, Veronica; Blumenfeld, Anat; Greifner, Gabriel; Eli, Dalia; Rosenmann, Ada; Glanzer, Sherry; Anteby, Irene

    2012-04-01

    To evaluate the prevalence of refractive errors in different subtypes of oculocutaneous albinism, and to see if there is any correlation between refractive errors and final visual outcome in this population. This is a retrospective study of 132 albino patients, ranging in age from 0.5 to 35 years. They were divided into four subtypes: OCA1A, OCA1B and OCA1C, and OCA2. Refractive errors were evaluated objectively by cycloplegic refraction and subjectively in cooperative patients. Best corrected visual acuity was assessed binocularly. Refractive errors were divided into three groups--hypermetropia, myopia and astigmatism--to avoid the use of spherical equivalent. Refractive errors were mainly astigmatism and hypermetropia. The OCA1A group showed high hypermetropia (≥ 5 dioptres) in 43.4% of patients, reaching significantly higher levels than in other subgroups (p=0.007). Mean visual acuity in logMAR was: OCA1A=0.81, OCA1B=0.64, OCA1C=0.61 and OCA2=0.48. Astigmatism averaged 2.1 dioptres (consistently with-the-rule), and it was homogeneously distributed between all subgroups (53%). The poorest visual acuity was found in those with OCA1A, which was associated with the highest rate of high hypermetropia (statistically significant different from other subgroups). Astigmatism was the most common visually significant refractive error across all subtypes of albinism. These results may help to clarify the prevalence of refractive errors in albino patients and aid the prediction of visual outcome in this heterogeneous population.

  19. GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism

    Science.gov (United States)

    Young, Alejandra; Sader, Avery; Farber, Debora B.

    2016-01-01

    Ocular albinism type 1 (OA), caused by mutations in the OA1 gene, encodes a G-protein coupled receptor, OA1, localized in melanosomal membranes of the retinal pigment epithelium (RPE). This disorder is characterized by both RPE macro-melanosomes and abnormal decussation of ganglion cell axons at the brain’s optic chiasm. We demonstrated previously that Oa1 specifically activates Gαi3, which also signals in the Oa1 transduction pathway that regulates melanosomal biogenesis. In this study, we screened the human Gαi3 gene, GNAI3, in DNA samples from 26 patients who had all clinical characteristics of OA but in whom a specific mutation in the OA1 gene had not been found, and in 6 normal control individuals. Using the Agilent HaloPlex Target Enrichment System and next-generation sequencing (NGS) on the Illumina MiSeq platform, we identified 518 variants after rigorous filtering. Many of these variants were corroborated by Sanger sequencing. Overall, 98.8% coverage of the GNAI3 gene was obtained by the HaloPlex amplicons. Of all variants, 6 non-synonymous and 3 synonymous were in exons, 41 in a non-coding exon embedded in the 3’ untranslated region (UTR), 6 in the 5’ UTR, and 462 in introns. These variants included novel SNVs, insertions, deletions, and a frameshift mutation. All were found in at least one patient but none in control samples. Using computational methods, we modeled the GNAI3 protein and its non-synonymous exonic mutations and determined that several of these may be the cause of disease in the patients studied. Thus, we have identified GNAI3 as a second gene possibly responsible for X-linked ocular albinism. PMID:27607449

  20. GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism.

    Directory of Open Access Journals (Sweden)

    Alejandra Young

    Full Text Available Ocular albinism type 1 (OA, caused by mutations in the OA1 gene, encodes a G-protein coupled receptor, OA1, localized in melanosomal membranes of the retinal pigment epithelium (RPE. This disorder is characterized by both RPE macro-melanosomes and abnormal decussation of ganglion cell axons at the brain's optic chiasm. We demonstrated previously that Oa1 specifically activates Gαi3, which also signals in the Oa1 transduction pathway that regulates melanosomal biogenesis. In this study, we screened the human Gαi3 gene, GNAI3, in DNA samples from 26 patients who had all clinical characteristics of OA but in whom a specific mutation in the OA1 gene had not been found, and in 6 normal control individuals. Using the Agilent HaloPlex Target Enrichment System and next-generation sequencing (NGS on the Illumina MiSeq platform, we identified 518 variants after rigorous filtering. Many of these variants were corroborated by Sanger sequencing. Overall, 98.8% coverage of the GNAI3 gene was obtained by the HaloPlex amplicons. Of all variants, 6 non-synonymous and 3 synonymous were in exons, 41 in a non-coding exon embedded in the 3' untranslated region (UTR, 6 in the 5' UTR, and 462 in introns. These variants included novel SNVs, insertions, deletions, and a frameshift mutation. All were found in at least one patient but none in control samples. Using computational methods, we modeled the GNAI3 protein and its non-synonymous exonic mutations and determined that several of these may be the cause of disease in the patients studied. Thus, we have identified GNAI3 as a second gene possibly responsible for X-linked ocular albinism.

  1. OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism.

    Directory of Open Access Journals (Sweden)

    Madleina Caduff

    Full Text Available We investigated a German Spitz family where the mating of a black male to a white female had yielded three puppies with an unexpected light brown coat color, lightly pigmented lips and noses, and blue eyes. Combined linkage and homozygosity analysis based on a fully penetrant monogenic autosomal recessive mode of inheritance identified a critical interval of 15 Mb on chromosome 3. We obtained whole genome sequence data from one affected dog, three wolves, and 188 control dogs. Filtering for private variants revealed a single variant with predicted high impact in the critical interval in LOC100855460 (XM_005618224.1:c.377+2T>G LT844587.1:c.-45+2T>G. The variant perfectly co-segregated with the phenotype in the family. We genotyped 181 control dogs with normal pigmentation from diverse breeds including 22 unrelated German Spitz dogs, which were all homozygous wildtype. Comparative sequence analyses revealed that LOC100855460 actually represents the 5'-end of the canine OCA2 gene. The CanFam 3.1 reference genome assembly is incorrect and separates the first two exons from the remaining exons of the OCA2 gene. We amplified a canine OCA2 cDNA fragment by RT-PCR and determined the correct full-length mRNA sequence (LT844587.1. Variants in the OCA2 gene cause oculocutaneous albinism type 2 (OCA2 in humans, pink-eyed dilution in mice, and similar phenotypes in corn snakes, medaka and Mexican cave tetra fish. We therefore conclude that the observed oculocutaneous albinism in German Spitz is most likely caused by the identified variant in the 5'-splice site of the first intron of the canine OCA2 gene.

  2. Frequent intragenic deletion of the P gene in Tanzanian patients with Type II oculocutaneous albinism (OCA2)

    Energy Technology Data Exchange (ETDEWEB)

    Spritz, R.; Fukai, K.; Holmes, S.A. [Univ. of Wisconsin, Madison, WI (United States)] [and others

    1995-06-01

    Type II oculocutaneous albinism (OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in the skin, hair, and eyes. OCA2, which results from mutations of the P gene, is the most frequent type of albinism in African and African-American patients. OCA2 is especially frequent in Tanzania, where it occurs with an incidence of {approximately}1/1,400. We have identified abnormalities of the P gene in each of 13 unrelated patients with OCA2 from Tanzania. One of these, a deletion of exon 7, is strongly predominant, accounting for {approximately}77% of mutant alleles in this group of patients. 20 refs., 2 figs.

  3. Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle.

    Science.gov (United States)

    Rothammer, Sophie; Kunz, Elisabeth; Seichter, Doris; Krebs, Stefan; Wassertheurer, Martina; Fries, Ruedi; Brem, Gottfried; Medugorac, Ivica

    2017-10-05

    Cases of albinism have been reported in several species including cattle. So far, research has identified many genes that are involved in this eye-catching phenotype. Thus, when two paternal Braunvieh half-sibs with oculocutaneous albinism were detected on a private farm, we were interested in knowing whether their phenotype was caused by an already known gene/mutation. Analysis of genotyping data (50K) of the two albino individuals, their mothers and five other relatives identified a 47.61-Mb candidate haplotype on Bos taurus chromosome BTA20. Subsequent comparisons of the sequence of this haplotype with sequence data from four Braunvieh sires and the Aurochs genome identified two possible candidate causal mutations at positions 39,829,806 bp (G/A; R45Q) and 39,864,148 bp (C/T; T444I) that were absent in 1682 animals from various bovine breeds included in the 1000 bull genomes project. Both polymorphisms represent coding variants in the SLC45A2 gene, for which the human equivalent harbors numerous variants associated with oculocutaneous albinism type 4. We demonstrate an association of R45Q and T444I with the albino phenotype by targeted genotyping. Although the candidate gene SLC45A2 is known to be involved in albinism in different species, to date in cattle only mutations in the TYR and MITF genes were reported to be associated with albinism or albinism-like phenotypes. Thus, our study extends the list of genes that are associated with bovine albinism. However, further research and more samples from related animals are needed to elucidate if only one of these two single nucleotide polymorphisms or the combination of both is the actual causal variant.

  4. Proposal for management and dermoscopy follow-up of nevi in patients affected by oculocutaneous albinism type Ia.

    Science.gov (United States)

    Peralta, Rosario; Sabban, Emilia Cohen; Friedman, Paula; Marcucci, Carolina; Bollea Garlatti, Luis A; Galimberti, Gastón; Cabo, Horacio

    2017-01-01

    Albino patients are at great risk for developing cutaneous neoplasms, including melanomas. In this paper we describe the dermatoscopic findings of nevi in two patients with oculocutaneous albinism type Ia (OCA-Ia) highlighting that they manifest a vascular pattern similar to that described for amelanotic melanoma. We propose managing these patients with dermoscopy, using the comparative approach, digital follow up (DFU), and reflectance confocal microscopy as a complementary tool for difficult cases.

  5. Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.

    Science.gov (United States)

    O'Brien, Kevin J; Lozier, Jay; Cullinane, Andrew R; Osorio, Brigitte; Nghiem, Khanh; Speransky, Vladislav; Zein, Wadih M; Mullikin, James C; Neff, Anne T; Simon, Karen L; Malicdan, May Christine V; Gahl, William A; Young, Lisa R; Gochuico, Bernadette R

    2016-11-01

    Hemophilia B, an X-linked disease, manifests with recurrent soft tissue bleeding episodes. Hermansky-Pudlak syndrome, a rare autosomal recessive disorder, is characterized by oculocutaneous albinism and an increased tendency to bleed due to a platelet storage pool defect. We report a novel mutation in HPS6 in a Caucasian man with hemophilia B and oculocutaneous albinism. The patient was diagnosed with hemophilia B at age 4months due to recurrent soft tissue bleeding episodes, and he was also diagnosed with Hermansky-Pudlak syndrome at 32years of age due to unexplained oculocutaneous albinism. His factor IX level was markedly reduced at 13%; whole exome and Sanger sequencing showed the Durham mutation in F9 (NM_000133.3). The diagnosis of Hermansky-Pudlak syndrome subtype 6 was established by demonstrating absence of platelet delta granules on whole mount electron microscopy, an abnormal secondary wave in platelet aggregation studies, and a novel homozygous c.1114 C>T (p.Arg372*) mutation in HPS6 (NM_024747.5) on exome analysis and Sanger sequencing. Clinical phenotyping revealed no evidence of recurrent or unusual infections, interstitial lung disease or pulmonary fibrosis, or neurological disorders. The patient was treated with fresh frozen plasma, recombinant factor IX, and aminocaproic acid. Treatment with desmopressin was added to his regimen after he was diagnosed with Hermansky-Pudlak syndrome. Treatment of bleeding episodes results in effective hemostasis, and the patient has not required platelet or blood product transfusions. This report highlights the need to consider Hermansky-Pudlak syndrome as an etiology of oculocutaneous albinism even in patients with known hematologic disorders associated with bleeding. Identification of a novel mutation in HPS6 in an individual with hemophilia B shows that, although quite rare, patients may be diagnosed with two independent inherited bleeding disorders. No evidence of lung disease was found in this adult patient

  6. Abnormally Small Neuromuscular Junctions in the Extraocular Muscles From Subjects With Idiopathic Nystagmus and Nystagmus Associated With Albinism.

    Science.gov (United States)

    McLoon, Linda K; Willoughby, Christy L; Anderson, Jill S; Bothun, Erick D; Stager, David; Felius, Joost; Lee, Helena; Gottlob, Irene

    2016-04-01

    Infantile nystagmus syndrome (INS) is often associated with abnormalities of axonal outgrowth and connectivity. To determine if this manifests in extraocular muscle innervation, specimens from children with idiopathic INS or INS and albinism were examined and compared to normal age-matched control extraocular muscles. Extraocular muscles removed during normal surgery on children with idiopathic INS or INS and albinism were immunostained for neuromuscular junctions, myofiber type, the immature form of the acetylcholine receptor, and brain-derived neurotrophic factor (BDNF) and compared to age-matched controls. Muscles from both the idiopathic INS and INS and albinism groups had neuromuscular junctions that were 35% to 71% smaller based on myofiber area and myofiber perimeter than found in age-matched controls, and this was seen on both fast and slow myosin heavy chain isoform-expressing myofibers (all P albinism showed a 7-fold increase in neuromuscular junction numbers on fast myofibers expressing the immature gamma subunit of the acetylcholine receptor. The extraocular muscles from both INS subgroups showed a significant increase in the number and size of slow myofibers compared to age-matched controls. Brain-derived neurotrophic factor was expressed in control muscle but was virtually absent in the INS muscles. These studies suggest that, relative to the final common pathway, INS is not the same between different patient etiologies. It should be possible to modulate these final common pathway abnormalities, via exogenous application of appropriate drugs, with the hope that this type of treatment may reduce the involuntary oscillatory movements in these children.

  7. A Missense Mutation in SLC45A2 Is Associated with Albinism in Several Small Long Haired Dog Breeds.

    Science.gov (United States)

    Wijesena, Hiruni R; Schmutz, Sheila M

    2015-01-01

    Homozygosity for a large deletion in the solute carrier family 45, member 2 (SLC45A2) gene causes oculocutaneous albinism (OCA) in the Doberman Pinscher breed. An albino Lhasa Apso did not have this g.27141_31223del (CanFam2) deletion in her SLC45A2 sequence. Therefore, SLC45A2 was investigated in this female Lhasa Apso to search for other possible variants that caused her albinism. The albino Lhasa Apso was homozygous for a nonsynonymous substitution in the seventh exon, a c.1478G>A base change that resulted in a glycine to aspartic acid substitution (p.G493D). This mutation was not found in a wolf, a coyote, or any of the 15 other Lhasa Apso dogs or 32 other dogs of breeds related to the Lhasa Apso. However, an albino Pekingese, 2 albino Pomeranians, and an albino mixed breed dog that was small and long haired were also homozygous for the 493D allele. The colored puppies of the albino Lhasa Apso and the colored dam of the 2 albino Pomeranians were heterozygous for this allele. However, an albino Pug was homozygous for the 493G allele and therefore although we suggest the 493D allele causes albinism when homozygous in several small, long haired dog breeds, it does not explain all albinism in dogs. A variant effect prediction for the albino Lhasa Apso confirms that p.G493D is a deleterious substitution, and a topology prediction for SLC45A2 suggests that the 11th transmembrane domain where the 493rd amino acid was located, has an altered structure. © The American Genetic Association 2015. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  8. Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4

    OpenAIRE

    Newton, J. M.; Cohen-Barak, Orit; Hagiwara, Nobuko; Gardner, John M.; Davisson, Muriel T.; King, Richard A.; Brilliant, Murray H.

    2001-01-01

    Oculocutaneous albinism (OCA) affects ∼1/20,000 people worldwide. All forms of OCA exhibit generalized hypopigmentation. Reduced pigmentation during eye development results in misrouting of the optic nerves, nystagmus, alternating strabismus, and reduced visual acuity. Loss of pigmentation in the skin leads to an increased risk for skin cancer. Two common forms and one infrequent form of OCA have been described. OCA1 (MIM 203100) is associated with mutations of the TYR gene encoding tyrosinas...

  9. First record of albinism in the smooth dogfish Mustelus Schimitti Springer, 1939 (Carcharhiniformes - Triakidae from Southern Brazil

    Directory of Open Access Journals (Sweden)

    Simone Ferreira Teixeira

    2002-06-01

    Full Text Available This paper reports on a subadult male specimen of the smooth dogfish, Mustelus schimitti, caught in the continental shelf of Rio Grande Sul, during winter of 1993, which exhibited the characteristics of total albinism.Este trabalho registra a primeira ocorrência de albinismo total no cação Mustelus schimitti, capturado, no inverno de 1993, na plataforma continental do Rio Grande do Sul.

  10. First record of albinism in the smooth dogfish Mustelus Schimitti Springer, 1939 (Carcharhiniformes - Triakidae) from Southern Brazil

    OpenAIRE

    Simone Ferreira Teixeira; Maria Lúcia Góes de Araújo

    2002-01-01

    This paper reports on a subadult male specimen of the smooth dogfish, Mustelus schimitti, caught in the continental shelf of Rio Grande Sul, during winter of 1993, which exhibited the characteristics of total albinism.Este trabalho registra a primeira ocorrência de albinismo total no cação Mustelus schimitti, capturado, no inverno de 1993, na plataforma continental do Rio Grande do Sul.

  11. Oculocutaneous albinism and consanguineous marriage among Spanish Gitanos or Calé--a study of 83 cases.

    Science.gov (United States)

    Gamella, Juan F; Carrasco-Muñoz, Elisa Martín; Núñez Negrillo, Ana María

    2013-09-01

    This paper studies 83 cases of oculocutaneous albinism (OCA) in family networks of Gitanos in southeastern Spain, and analyzes their sustained inbreeding patterns and complex genealogical relationships. It is based in the family and genealogy reconstitution of the Gitano population of 22 contiguous localities using ethnographic and historical demography methods. The study found a prevalence of OCA among Gitanos in the area of about 1: 1,200. Most of the cases belong to three extended kin networks in which consanguineous marriages have been common for generations. In these networks there are other cases of visual and auditive congenital anomalies, and other birth defects such as brachydactily, polydactily, neurological defects, Potter Sequence, etc. In 61 OCA cases it was possible to trace inbreeding links with a depth of three to nine generations. For these cases the estimated alpha (average of the inbreeding coefficient, F) is 0.0222. Relationships between the parents of people affected are of three types: close, as between first or second cousins; distant, as between third or fourth cousins, and non-existent, as in mixed marriages. In most cases, however, persons with albinism are linked by multiple consanguineous links. Albinism seems to be a visible example of a high prevalence of birth defects in this minority, associated with founder effects, sustained inbreeding and high fertility rates. These conditions derive from Gitano's marriage preferences and pronatalist strategies. In turn, these strategies have to be related to the exclusion, persecution and segregation that Spanish Gypsies have suffered for centuries.

  12. Perceived effects of coloured overlays on reading material in persons with albinism

    Directory of Open Access Journals (Sweden)

    N. T. Makgaba

    2008-12-01

    Full Text Available Persons with albinism often complain of glare when reading. They may therefore benefit from coloured filter overlays just as they benefit from tinted lenses. The purpose of this study was to assess the effectof coloured overlays on print perception in persons with oculocutaneous albinism (OCA.   Fifty subjects were included in this study, their ages ranged from 12 to 31 years with a mean of 16.12 years (SD = ± 4.56 years.  Following refraction and subsequent compensation for refractive errors, subjective perception of print was examined with the subject looking at the Wilkins® reading rate test chart with and without colored filter overlay/s.  The subjects were asked to respond to questions previously used in a questionnaire by Wilkins (2001. The percentage frequencies of positive (beneficial responses were used to decide whether or not a particular overlay would enhance reading performance.  McNemar’s test was used to establish significant differences between responses to questions without and with overlays. All single overlays gave greater percentages of positive responses (92.0-97.2% than without overlay (85.2%.  The single overlay that provided the highest positive responses was blue (97.2% and the least was purple (92.0%. All double overlays, except grey/grey (82.0% gave greater positive responses than without overlay (85.2%. Aqua/blue gave the greatest positive responses (possible benefits (97.2%, followed by rose/rose (96.8%.  Comparing the responses without overlay with single and double overlays, the difference in responses to the five questions was only significant (p < 0.05 with regard to brightness of the surface. The results suggest that overlays provided a more glare-free reading surface than without an overlay. It was, therefore concluded that the best advantage of the coloured overlays was in glare reduction.  Although this study showed that there were more subjects who preferred single blue and aqua/blue double

  13. Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication.

    Science.gov (United States)

    Kucharczyk, Marzena; Jezela-Stanek, Aleksandra; Gieruszczak-Bialek, Dorota; Kugaudo, Monika; Cieslikowska, Agata; Pelc, Magdalena; Krajewska-Walasek, Malgorzata

    2015-06-01

    Chromosomal duplications involving 17p13.3 have recently been defined as a new distinctive syndrome with several diagnosed patients. Some variation is known to occur in the breakpoints of the duplicated region and, consequently, in the phenotype as well. We report on a patient, the fifth to our knowledge, a 4-year-old girl with a pure de novo subtelomeric 17p13.2-pter duplication. She presents all of the facial features described so far for this duplication and in addition, a unilateral palmar transversal crease and oculocutaneous albinism which has not been reported previously. A detailed molecular description of the reported aberration and correlation with the observed phenotypical features based on a literature review. We discuss the possible molecular etiology of albinism in regard to the mode of inheritance. The new data provided here may be useful for further genotype correlations in syndromes with oculocutaneous albinism, especially of autosomal dominant inheritance.

  14. A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish.

    Science.gov (United States)

    Li, Yueru; Geng, Xin; Bao, Lisui; Elaswad, Ahmed; Huggins, Kevin W; Dunham, Rex; Liu, Zhanjiang

    2017-06-01

    Albinism is caused by a series of genetic abnormalities leading to reduction of melanin production. Albinism is quite frequent in catfish, but the causative gene and the molecular basis were unknown. In this study, we conducted a genome-wide association study (GWAS) using the 250 K SNP array. The GWAS analysis allowed mapping of the albino phenotype in the Hermansky-Pudlak syndrome 4 (Hps4) gene, which is known to be involved in melanosome biosynthesis. Sequencing analysis revealed that a 99-bp deletion was present in all analyzed albino catfish at the intron 2 and exon 3 junction. This deletion led to the skipping of the entire exon 3 which was confirmed by RT-PCR. Therefore, Hps4 was determined to be the candidate gene of the catfish albinism.

  15. A developmental analysis of periodic albinism in the amphibian Xenopus laevis.

    Science.gov (United States)

    Eagleson, Gerald W; van der Heijden, Roel A; Roubos, Eric W; Jenks, Bruce G

    2010-09-01

    The periodic albino of Xenopus laevis displays a transitory presence of black melanin pigment in the embryo but looses this during tadpole development. This mutation, involving a recessive allele, affects melanogenesis in dermal melanophore pigment cells. It has been suggested that the mutation is intrinsic to the melanophore cell itself or, alternatively, reflects malfunction in the neuroendocrine system that regulates melanophore cell function. This latter system, involving pituitary melanotrope cells which produces alpha-melanophore stimulating hormone (alpha-MSH), is responsible for stimulating the production and dispersion of melanin pigment in dermal melanophores. The purpose of the present study was to determine to which degree the albinism is intrinsic to the melanophore or involves neuroendocrine malfunction. Experiments involved transplantation of presumptive melanophores from wild-type to albino embryos, and vice versa, immunocytochemical analysis of the albino neuroendocrine system and the creation of wild-type/albino parabiotic animals to determine if the neuroendocrine system of the albino can support melanotrope cell function. We show that the albino has a functional neuroendocrine system and conclude that the defect in the albino primarily affects the melanophore cell, possibly rendering it incapable of responding to alpha-MSH. It is also apparent from our results that in later stages of development the cellular environment of the melanotrope cell does become important to its development, but the nature of the critical cellular factors involved remains to be determined. Copyright 2010 Elsevier Inc. All rights reserved.

  16. Albinism in the American mink (Neovison vison) is associated with a tyrosinase nonsense mutation.

    Science.gov (United States)

    Anistoroaei, R; Fredholm, M; Christensen, K; Leeb, T

    2008-12-01

    Albino phenotypes are documented in various species including the American mink. In other species the albino phenotypes are associated with tyrosinase (TYR) gene mutations; therefore TYR was considered the candidate gene for albinism in mink. Four microsatellite markers were chosen in the predicted region of the TYR gene. Genotypes at the markers Mvi6025 and Mvi6034 were found to be associated with the albino phenotype within an extended half-sib family. A BAC clone containing Mvi6034 was mapped to chromosome 7q1.1-q1.3 by fluorescent in situ hybridization. Subsequent analysis of genomic TYR sequences from wild-type and albino mink samples identified a nonsense mutation in exon 1, which converts a TGT codon encoding cysteine to a TGA stop codon (c.138T>A, p.C46X; EU627590). The mutation truncates more than 90% of the normal gene product including the putative catalytic domains. The results indicate that the nonsense mutation is responsible for the albino phenotype in the American mink.

  17. PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY.

    Science.gov (United States)

    Patiroglu, T; Akar, H H; Unal, E; Chiang, S C; Schlums, H; Tesi, B; Ozkars, M Y; Karakukcu, M

    2016-01-01

    Partial oculocutaneous albinism and immunodeficiency (OCA-ID) diseases are autosomal recessive syndromes characterized by partial hypopigmentation and recurrent infections. Moreover, some OCA-ID syndromes confer susceptibility to develop a life-threatening hyperinflammatory condition called hemophagocytic lymphohistiocytosis (HLH). We investigated the genetic, clinical and immunological characteristics of 20 OCA patients. Herein, we present the clinical and immunological characteristics of 20 OCA patients who referred to the Department of Pediatric Immunology, Erciyes University Medical Faculty in Kayseri, Turkey between 2004 and 2014. Of the 20 OCA patients, 7 fulfilled diagnostic criteria for HLH, 9 showed defective functions of CD8 T cells and natural killer cells, and 8 received a definitive molecular diagnosis. Among the patients, we also report a patient diagnosed with two different genetic defects, in TYR and JAK3 genes, causing, respectively, OCA and ID. Our results illustrate the variability of clinical presentations and disease severity in OCA-ID patients, with consequent challenges in diagnosing and treating these patients.

  18. Oculocutaneous albinism type 3: a Japanese girl with novel mutations in TYRP1 gene.

    Science.gov (United States)

    Yamada, Makiko; Sakai, Keisuke; Hayashi, Masahiro; Hozumi, Yutaka; Abe, Yuko; Kawaguchi, Masakazu; Ihn, Hironobu; Suzuki, Tamio

    2011-12-01

    Oculocutaneous albinism (OCA) type 3 caused by mutations of the TYRP1 gene is an autosomal recessive disorder of pigmentation characterized by reduced biosynthesis of melanin pigment in the skin, hair, and eye. The clinical phenotype has been reported as mild in Caucasian OCA3 patients. We had the opportunity to examine a Japanese girl with OCA3 and investigated activity of TYRP1 protein derived from the mutant allele detected in the patient. Mutation search for OCA responsible genes was done. A mutant allele with a missense mutation was analyzed using melanocyte cultures (b cells) established from a mouse model of OCA3. Compound heterozygous mutations, p.C30R and p.367fsX384, were detected in the Japanese girl. Then we revealed that the missense mutation, p.C30R, was functionally incapable of melanin synthesis with in vitro experiments. This is the first report of the occurrence of OCA3 in Japanese population. Copyright © 2011 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved.

  19. [Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].

    Science.gov (United States)

    Hu, Hao; Wang, Hua; Jia, Zhengjun; Xie, Qiong

    2014-08-01

    To perform genotyping analysis and subsequent prenatal genetic diagnosis for two families affected with oculocutaneous albinism (OCA). Direct sequencing of TYR and P genes was performed in two albino probands. Family members were screened for corresponding mutant alleles. Prenatal genetic diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) at mid-pregnancy through amniocentesis. No mutations were detected in the TYR gene in either probands, whereas 4 heterozygous mutations of the P gene were found, namely c.406C>T, c.535A>G, c.808-2A>G and c.2180T>C, among which c.535A>G and c.808-2A>G were novel. In the first round prenatal genetic testing, both fetuses were found to have the same genotypes as the probands. Both families had decided to terminate the pregnancy after genetic counseling. In the second round testing, neither of the fetuses was found to be affected by genotyping. The pregnancies continued and two healthy fetuses were born. OCA can be classified by genotyping, with which reliable prenatal diagnosis and feasible genetic counseling may be provided.

  20. [Prenatal genetic diagnosis of oculocutaneous albinism type II through mutation detection combined with SNPs linkage analysis].

    Science.gov (United States)

    Chen, Xiaofei; Wei, Haiyun; Zhou, Yi; Zheng, Hui; Fang, Qun; Jiang, Weiying; Li, Hongyi

    2014-04-01

    To provide prenatal diagnosis for two families affected with oculocutaneous albinism (OCA), in both of which only 1 pathogenic allele has been identified. To determine the clinical classification of OCA through DNA sequencing for TYR, P, TYRP1 and SLC45A2 genes in combination with phenotype analysis. Prenatal diagnosis was carried out by direct sequencing and intragenic SNPs family-based linkage analysis. In the first family, only 1 heterozygous mutation c.1255C>T was found in the proband, which was inherited from her mother. Together with its clinical phenotype, the proband was suspected to have OCA2 Screening of amniotic fluid, however, has found no mutation. With family-based linkage analysis, the fetus was deemed to be an OCA2 carrier. In the second family, again only one heterozygous mutation c.1920_1949 del30bp and ins AACA was found in the proband, which was inherited from her father. Together with its clinical phenotype, the proband was suspected to have OCA2. Screening of amniotic fluid has revealed a heterozygous mutation c.1920_1949 del30bp and ins AACA. By family-based linkage analysis, the fetus was deemed to be an OCA2 carrier. Both fetuses had a normal phenotype at birth. Prenatal genetic diagnosis has been provided for the first time for two families affected with OCA, in which only 1 pathogenic mutant allele was detected. The combined mutation detection and SNPs linkage analysis has turned out to be successful.

  1. [Early prenatal genetic diagnosis of oculocutaneous albinism type I in seven families].

    Science.gov (United States)

    Wu, Qinghua; Shi, Hui-rong; Liu, Ning; Lu, Ning; Jiang, Miao; Zhao, Zhen-hua; Kong, Xiang-dong

    2012-08-01

    To evaluate the feasibility of genetic analysis of tyrosinase gene (TYR) in oculocutaneous albinism type I (OCA1). Mutation analysis and prenatal genetic diagnosis of TYR gene for seven pedigrees with OCA1 were performed. PCR was used to amplify the exons, exon-intron boundaries and promoter of the TYR gene in the probands and/or their parents. The products were further analyzed by direct sequencing. Prenatal genetic diagnoses were performed by chorionic villus sampling after the genotypes of the probands or their parents were determined. Compound heterozygous mutations were detected in all pedigrees, which included 9 mutations, namely R76Q, c.232insGGG, R116X, R278X, R299H, c.929-930insC, IVS2-11delTT, Q399X and W400L. Among these, R76Q and Q399X were identified for the first time. Seven families have requested prenatal diagnoses. One fetus was detected with double mutations of TYR gene, and the parents have decided to have therapeutic abortion. Two fetuses did not carry the mutations identified in the probands, whilst other four fetuses were carriers of heterozygous mutations. Six families decided to carry on with the pregnancies. And the neonates did not show any symptoms of OCA after birth. Direct sequencing of the TYR gene is helpful for genetic counseling, prenatal diagnosis and carriers screening of OCA1.

  2. Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing.

    Science.gov (United States)

    Qiu, Biyuan; Ma, Tao; Peng, Chunyan; Zheng, Xiaoqin; Yang, Jiyun

    2018-02-13

    The diagnosis of oculocutaneous albinism (OCA) is established using clinical signs and symptoms. OCA is, however, a highly genetically heterogeneous disease with mutations identified in at least nineteen unique genes, many of which produce overlapping phenotypic traits. Thus, differentiating genetic OCA subtypes for diagnoses and genetic counseling is challenging, based on clinical presentation alone, and would benefit from a comprehensive molecular diagnostic. To develop and validate a more comprehensive, targeted, next-generation-sequencing-based diagnostic for the identification of OCA-causing variants. The genomic DNA samples from 28 OCA probands were analyzed by targeted next-generation sequencing (NGS), and the candidate variants were confirmed through Sanger sequencing. We observed mutations in the TYR, OCA2, and SLC45A2 genes in 25/28 (89%) patients with OCA. We identified 38 pathogenic variants among these three genes, including 5 novel variants: c.1970G>T (p.Gly657Val), c.1669A>C (p.Thr557Pro), c.2339-2A>C, and c.1349C>G (p.Thr450Arg) in OCA2; c.459_470delTTTTGCTGCCGA (p.Ala155_Phe158del) in SLC45A2. Our findings expand the mutational spectrum of OCA in the Chinese population, and the assay we developed should be broadly useful as a molecular diagnostic and as an aid for genetic counseling for OCA patients.

  3. Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism.

    Science.gov (United States)

    Onojafe, Ighovie F; Adams, David R; Simeonov, Dimitre R; Zhang, Jun; Chan, Chi-Chao; Bernardini, Isa M; Sergeev, Yuri V; Dolinska, Monika B; Alur, Ramakrishna P; Brilliant, Murray H; Gahl, William A; Brooks, Brian P

    2011-10-01

    Mutation of the tyrosinase gene (TYR) causes oculocutaneous albinism, type 1 (OCA1), a condition characterized by reduced skin and eye melanin pigmentation and by vision loss. The retinal pigment epithelium influences postnatal visual development. Therefore, increasing ocular pigmentation in patients with OCA1 might enhance visual function. There are 2 forms of OCA1, OCA-1A and OCA-1B. Individuals with the former lack functional tyrosinase and therefore lack melanin, while individuals with the latter produce some melanin. We hypothesized that increasing plasma tyrosine concentrations using nitisinone, an FDA-approved inhibitor of tyrosine degradation, could stabilize tyrosinase and improve pigmentation in individuals with OCA1. Here, we tested this hypothesis in mice homozygous for either the Tyrc-2J null allele or the Tyrc-h allele, which model OCA-1A and OCA-1B, respectively. Only nitisinone-treated Tyrc-h/c-h mice manifested increased pigmentation in their fur and irides and had more pigmented melanosomes. High levels of tyrosine improved the stability and enzymatic function of the Tyrc-h protein and also increased overall melanin levels in melanocytes from a human with OCA-1B. These results suggest that the use of nitisinone in OCA-1B patients could improve their pigmentation and potentially ameliorate vision loss.

  4. Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing.

    Science.gov (United States)

    Gul, Hadia; Ali, Muhammad Zeeshan; Khan, Ejazullah; Zubair, Muhammad; Badar, Muhammad; Khan, Saadullah; Shah, Abdul Haleem; Khan, Muzammil Ahmad

    2017-05-01

    Oculocutaneous albinism (OCA) is a disorder of defective melanin biosynthesis that is characterized by hypo-pigmentation of skin, hair and retinal pigment epithelium. Phenotypically, OCA patients exhibit white milky skin, whitish to golden hair and deterioration of retinal cells. Until recently, genetic studies have reported seven causative genes (TYR, TYRP1, OCA2, SLC45A2, SLC24A2, C10ORF11 and MCIR) and an uncharacterized OCA5 locus. Herein we present the medico-genetic study of three Pakistani patients inheriting autosomal recessive OCA. Whole exome sequencing, followed by Sanger DNA sequencing for segregation analysis, revealed recurrent mutations c.346C>T (p.Arg116*) and c.1255G>A (p.Gly419Arg) (family A and B respectively) in TYR gene, while the patient from family C did not reveal any known gene mutation, which suggests the involvement of some novel genetic factor. It is the first report of mapping c.346C>T mutation in a Pakistani patient. Our study further extends the evidence of genetic hotspots regions in TYR gene causing OCA in Pakistani population.

  5. Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.

    Science.gov (United States)

    Ko, Jung Min; Yang, Jung-Ah; Jeong, Seon-Yong; Kim, Hyon-Ju

    2012-04-01

    Oculocutaneous albinism (OCA) is a group of inherited disorders characterized by defective melanin biosynthesis. OCA1, the most common and severe form, is caused by mutations in the tyrosinase (TYR) gene. OCA4, caused by mutations in the SLC45A2 gene, has frequently been reported in the Japanese population. To determine the mutational spectrum in Korean OCA patients, 12 patients were recruited. The samples were first screened for TYR mutations, and negative samples were screened for SLC45A2 mutations. OCA1 was confirmed in 8 of 12 (66.7%) patients, and OCA4 was diagnosed in 1 (8.3%) patient. In the OCA1 patients, a total of 6 distinct TYR mutations were found in 15 of 16 (93.8%) alleles, all of which had been previously reported. Out of the 6 alleles, c.929insC was the most frequently detected (31.3%), and was mainly associated with OCA1A phenotypes. Other TYR mutations identified included c.1037-7T>A/c.1037-10delTT, p.D383N, p.R77Q and p.R299H. These largely overlapped with mutations found in Japanese and Chinese patients. The SLC45A2 gene analysis identified 1 novel mutation, p.D93N, in 1 patient. This study has provided information on the mutation spectrum in Korean OCA patients, and allows us to estimate the relative frequencies of OCA1 and OCA4 in Korea.

  6. Decreased subfoveal choroidal thickness and failure of emmetropisation in patients with oculocutaneous albinism.

    Science.gov (United States)

    Karabas, Levent; Esen, Fehim; Celiker, Hande; Elcioglu, Nursel; Cerman, Eren; Eraslan, Muhsin; Kazokoglu, Haluk; Sahin, Ozlem

    2014-08-01

    The purpose of this work was to describe the choroidal structure in patients with oculocutaneous albinism (OCA). 20 eyes of 10 patients with OCA and 14 eyes of 7 healthy controls were recruited for the study. Enhanced depth imaging optical coherence tomography (OCT) images of the subjects were taken. The choroidal thickness (CT) was measured from the outer boarder of the retinal pigment epithelium to the inner boarder of sclera at 500 µm intervals of a horizontal section from the optic disc. Statistical analysis was performed to evaluate variations in CT at subfoveal and peripapillary areas. In the fundoscopic examination and OCT imaging, the foveal light reflex was absent and the foveal pit could not be observed in all of the patients with OCA. The mean subfoveal CT of the patients with OCA was significantly thinner (242±56 µm) compared with healthy controls (349±70 µm) (palbinism. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  7. Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.

    Science.gov (United States)

    Wei, Ai-Hua; Zang, Dong-Jie; Zhang, Zhe; Liu, Xuan-Zhu; He, Xin; Yang, Lin; Wang, Yi; Zhou, Zhi-Yong; Zhang, Ming-Rong; Dai, Lan-Lan; Yang, Xiu-Min; Li, Wei

    2013-07-01

    Oculocutaneous albinism (OCA) is a heterogeneous and autosomal recessive disorder with hypopigmentation in the eye, hair, and skin color. Four genes, TYR, OCA2, TYRP1, and SLC45A2, have been identified as causative genes for nonsyndromic OCA1-4, respectively. The genetic identity of OCA5 locus on 4q24 is unknown. Additional unknown OCA genes may exist as at least 5% of OCA patients have not been characterized during mutational screening in several populations. We used exome sequencing with a family-based recessive mutation model to determine that SLC24A5 is a previously unreported candidate gene for nonsyndromic OCA, which we designate as OCA6. Two deleterious mutations in this patient, c.591G>A and c.1361insT, were identified. We found apparent increase of immature melanosomes and less mature melanosomes in the patient's skin melanocytes. However, no defects in the platelet dense granules were observed, excluding typical Hermansky-Pudlak syndrome (HPS), a well-known syndromic OCA. Moreover, the SLC24A5 protein was reduced in steady-state levels in mouse HPS mutants with deficiencies in BLOC-1 and BLOC-2. Our results suggest that SLC24A5 is a previously unreported nonsyndromic OCA candidate gene and that the SLC24A5 transporter is transported into mature melanosomes by HPS protein complexes.

  8. Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).

    Science.gov (United States)

    Ghodsinejad Kalahroudi, Vadieh; Kamalidehghan, Behnam; Arasteh Kani, Ahoura; Aryani, Omid; Tondar, Mahdi; Ahmadipour, Fatemeh; Chung, Lip Yong; Houshmand, Massoud

    2014-01-01

    Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders resulting from mutations of the tyrosinase (TYR) gene and presents with either complete or partial absence of pigment in the skin, hair and eyes due to a defect in an enzyme involved in the production of melanin. In this study, mutations in the TYR gene of 30 unrelated Iranian OCA1 patients and 100 healthy individuals were examined using PCR-sequencing. Additionally, in order to predict the possible effects of new mutations on the structure and function of tyrosinase, these mutations were analyzed by SIFT, PolyPhen and I-Mutant 2 software. Here, two new pathogenic p.C89S and p.H180R mutations were detected in two OCA1 patients. Moreover, the R402Q and S192Y variants, which are common non-pathogenic polymorphisms, were detected in 17.5% and 35% of the patients, respectively. The outcome of this study has extended the genotypic spectrum of OCA1 patients, which paves the way for more efficient carrier detection and genetic counseling.

  9. Oculocutaneous albinism: developing novel antibodies targeting the proteins associated with OCA2 and OCA4.

    Science.gov (United States)

    Kondo, Taisuke; Namiki, Takeshi; Coelho, Sergio G; Valencia, Julio C; Hearing, Vincent J

    2015-01-01

    Patients with oculocutaneous albinism (OCA) have severely decreased pigmentation of their skin, hair and eyes. OCA2 and OCA4 result from mutations of the OCA2 and SLC45A2 genes, respectively, both of which disrupt the trafficking of the critical melanogenic enzyme tyrosinase to melanosomes. Both proteins encoded by those loci (termed P and MATP, respectively) have 12 putative transmembrane regions and are thought to function as transporters, although their functions and subcellular localizations remain to be characterized. To generate specific antibodies against unique synthetic peptides encoded by P and MATP that could be used to characterize their functions and subcellular localizations. Western blotting and immunohistochemistry were used to assess the specificity of antibodies and to colocalize P and MATP proteins with various subcellular markers. Specific antibodies to the P and MATP proteins were generated that work well for Western blotting and immunohistochemistry. The localizations of P and MATP with various subcellular organelles were characterized using confocal microscopy, which revealed that they colocalize to some extent with LAMP2, but do not significantly colocalize with markers of the ER, Golgi or melanosomes. Interestingly, both P and MATP colocalize significantly with BLOC-1, a sorting component involved in the intracellular trafficking of melanosomal/lysosomal constituents. These results provide a basis to understand how disrupted functions of P or MATP result in the misrouting of tyrosinase and cause the hypopigmentation seen in OCA2 and OCA4. Copyright © 2014. Published by Elsevier Ireland Ltd.

  10. Two novel tyrosinase (TYR gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1.

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    Vadieh Ghodsinejad Kalahroudi

    Full Text Available Oculocutaneous albinism (OCA is a heterogeneous group of autosomal recessive disorders resulting from mutations of the tyrosinase (TYR gene and presents with either complete or partial absence of pigment in the skin, hair and eyes due to a defect in an enzyme involved in the production of melanin. In this study, mutations in the TYR gene of 30 unrelated Iranian OCA1 patients and 100 healthy individuals were examined using PCR-sequencing. Additionally, in order to predict the possible effects of new mutations on the structure and function of tyrosinase, these mutations were analyzed by SIFT, PolyPhen and I-Mutant 2 software. Here, two new pathogenic p.C89S and p.H180R mutations were detected in two OCA1 patients. Moreover, the R402Q and S192Y variants, which are common non-pathogenic polymorphisms, were detected in 17.5% and 35% of the patients, respectively. The outcome of this study has extended the genotypic spectrum of OCA1 patients, which paves the way for more efficient carrier detection and genetic counseling.

  11. Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population

    Science.gov (United States)

    Shahzad, Mohsin; Yousaf, Sairah; Waryah, Yar M.; Gul, Hadia; Kausar, Tasleem; Tariq, Nabeela; Mahmood, Umair; Ali, Muhammad; Khan, Muzammil A.; Waryah, Ali M.; Shaikh, Rehan S.; Riazuddin, Saima; Ahmed, Zubair M.; Bamshad, Michael J.; Shendure, Jay; Nickerson, Deborah A.; Abecasis, Gonçalo R.; Anderson, Peter; Marchani Blue, Elizabeth; Annable, Marcus; Browning, Brian L.; Buckingham, Kati J.; Chen, Christina; Chin, Jennifer; Chong, Jessica X.; Cooper, Gregory M.; Davis, Colleen P.; Frazar, Christopher; Harrell, Tanya M.; He, Zongxiao; Jain, Preti; Jarvik, Gail P.; Jimenez, Guillaume; Johanson, Eric; Jun, Goo; Kircher, Martin; Kolar, Tom; Krauter, Stephanie A.; Krumm, Niklas; Leal, Suzanne M.; Luksic, Daniel; Marvin, Colby T.; McGee, Sean; Patterson, Karynne; Perez, Marcos; Phillips, Sam W.; Pijoan, Jessica; Poel, Christa; Ragan, Seamus; Reinier, Frederic; Robertson, Peggy D.; Santos-Cortez, Regie; Shankar, Aditi; Slattery, Krystal; Shephard, Cindy; Shively, Kathryn M.; Siegel, Deborah L.; Smith, Joshua D.; Tabor, Holly K.; Tackett, Monica; Wegener, Marc; Wang, Gao; Wheeler, Marsha M.; Wright, Amber; Yi, Qian

    2017-01-01

    Nonsyndromic oculocutaneous Albinism (nsOCA) is clinically characterized by the loss of pigmentation in the skin, hair, and iris. OCA is amongst the most common causes of vision impairment in children. To date, pathogenic variants in six genes have been identified in individuals with nsOCA. Here, we determined the identities, frequencies, and clinical consequences of OCA alleles in 94 previously unreported Pakistani families. Combination of Sanger and Exome sequencing revealed 38 alleles, including 22 novel variants, segregating with nsOCA phenotype in 80 families. Variants of TYR and OCA2 genes were the most common cause of nsOCA, occurring in 43 and 30 families, respectively. Twenty-two novel variants include nine missense, four splice site, two non-sense, one insertion and six gross deletions. In vitro studies revealed retention of OCA proteins harboring novel missense alleles in the endoplasmic reticulum (ER) of transfected cells. Exon-trapping assays with constructs containing splice site alleles revealed errors in splicing. As eight alleles account for approximately 56% (95% CI: 46.52–65.24%) of nsOCA cases, primarily enrolled from Punjab province of Pakistan, hierarchical strategies for variant detection would be feasible and cost-efficient genetic tests for OCA in families with similar origin. Thus, we developed Tetra-primer ARMS assays for rapid, reliable, reproducible and economical screening of most of these common alleles. PMID:28266639

  12. A histopathological study of melanocytic and pigmented skin lesions in patients with albinism.

    Science.gov (United States)

    van der Westhuizen, Gerhard; Beukes, Catherine A; Green, Brent; Sinclair, Werner; Goedhals, Jacqueline

    2015-11-01

    Oculocutaneous albinism (OCA) is a group of genetic disorders characterized by diminished pigmentation of the skin, hair and eyes. Individuals with OCA are at increased risk to develop sun-induced skin malignancies. The incidence of malignant melanoma in OCA individuals is, however, very low. The aim of this study was to document pigmented and melanocytic skin lesions occurring in patients with OCA. A prospective study was performed. Sixteen patients with OCA presenting at the Oncology and Dermatology Departments at Universitas Academic Hospital Annex in Bloemfontein, South Africa, were included. Selected clinically pigmented and/or melanocytic lesions were biopsied and studied by light microscopy. Twenty-four punch biopsies were taken. Ten dendritic freckles and 10 melanocytic nevi were confirmed histologically. The nevi, which occurred in eight patients, were found on sun-protected skin. All the freckles occurred on sun-exposed skin. Twelve patients had current or previous skin malignancies. No melanomas were present in the study population. Other skin lesions ranged from solar keratoses to squamous cell carcinomas. The majority of pigmented lesions were dendritic freckles that occurred on sun-exposed skin. None of the patients had a current or previous diagnosis of malignant melanoma. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  13. A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism

    Directory of Open Access Journals (Sweden)

    Michiko Miki

    2016-05-01

    Full Text Available Purpose: To report a case of ocular albinism found in a newborn infant in whom agenesis of the corpus callosum (ACC was indicated in utero. Case Report: This study involved a female newborn who was delivered after a gestational period of 41 weeks. The patient was referred to the Obstetrics Department at Takatsuki Hospital, Takatsuki City, Japan, after the indication of ACC by magnetic resonance imaging (MRI at a nearby clinic during the fetal period. At birth, the baby’s weight was 2,590 g, and ACC and ventricular enlargement were found by cranial sonography and cranial MRI. While initial ophthalmic findings noted partial loss of pigmentation of the iris and hypopigmentation of broad areas of the fundus in both eyes, nystagmus was not observed. The patient’s hair pigment was slightly diluted, and the color of her skin was slightly off-white. At 2 years after birth, obvious mental retardation was observed. With regard to other systemic findings, no apparent heart, kidney, or immune system abnormalities were found. Conclusion: Although the patient in question is presently growing without any major systemic problems, it will be necessary in the future to pay attention to any changes in systemic and ophthalmic findings.

  14. Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4.

    Science.gov (United States)

    Verhagen, Judith M A; Huijmans, Jan G; Williams, Monique; van Ruyven, Rutger L J; Bergen, Arthur A B; Wouters, Cokkie H; Brooks, Alice S

    2012-11-01

    Genome-wide studies may lead to the discovery of genetic variants of potential clinical importance beyond the aims of the study. We performed single nucleotide polymorphism array analysis in a boy with oculocutaneous albinism to identify copy-neutral regions of homozygosity harboring genes involved in melanin biosynthesis. An unanticipated homozygous deletion of chromosome 5p13.3 was discovered, encompassing not only the OCA gene SLC45A2, but also four additional genes. This led to an unexpected presymptomatic diagnosis of alpha-methylacyl-CoA racemase deficiency in the same patient. Copyright © 2012 Wiley Periodicals, Inc.

  15. Diagnóstico laboratorial do albinismo oculocutâneo Laboratory diagnosis of oculocutaneous albinism

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    Luciane de Melo Rocha

    2007-02-01

    Full Text Available OBJETIVO: Avaliar os métodos laboratoriais dos diferentes tipos de albinismo oculocutâneo (OCA 1 e OCA 2 de forma descritiva e analisar sua eficiência. MATERIAL E MÉTODO: O teste do bulbo capilar é um método químico usado para distinguir as duas formas, no entanto recentemente teve sua eficácia como teste padrão contestada. O avanço da biologia molecular permite a análise das mutações que causam o distúrbio e a sua localização gênica. CONCLUSÃO: O teste do bulbo é seguro apenas para o diagnóstico do OCA 1A, podendo ser usado como complemento de um método mais apurado. A análise molecular fornece um diagnóstico definitivo, permitindo distinguir OCA 1 de OCA 2, pois as mutações afetam genes em cromossomos diferentes.OBJECTIVES: To evaluate the laboratories methods of the oculocutaneous albinism (OCA 1and OCA 2 of descriptive form and to analyze its results. METHODS: The hair bulb test is a chemical method used to distinguish the two forms, however, recently had its effectiveness as an standard test contested. The advance of molecular biology allows the analysis of the mutations that cause the disturb and its genic location. CONCLUSIONS: The bulb test is secure only for the diagnosis of OCA 1A, being able to be used as complement of a more refined method. The molecular analysis supplies a diagnostic definitive allowing to distinguish OCA 1 from OCA 2, because the mutations affect genes in different chromosomes.

  16. A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs.

    Science.gov (United States)

    Winkler, Paige A; Gornik, Kara R; Ramsey, David T; Dubielzig, Richard R; Venta, Patrick J; Petersen-Jones, Simon M; Bartoe, Joshua T

    2014-01-01

    The first white Doberman pinscher (WDP) dog was registered by the American Kennel Club in 1976. The novelty of the white coat color resulted in extensive line breeding of this dog and her offspring. The WDP phenotype closely resembles human oculocutaneous albinism (OCA) and clinicians noticed a seemingly high prevalence of pigmented masses on these dogs. This study had three specific aims: (1) produce a detailed description of the ocular phenotype of WDPs, (2) objectively determine if an increased prevalence of ocular and cutaneous melanocytic tumors was present in WDPs, and (3) determine if a genetic mutation in any of the genes known to cause human OCA is causal for the WDP phenotype. WDPs have a consistent ocular phenotype of photophobia, hypopigmented adnexal structures, blue irides with a tan periphery and hypopigmented retinal pigment epithelium and choroid. WDPs have a higher prevalence of cutaneous melanocytic neoplasms compared with control standard color Doberman pinschers (SDPs); cutaneous tumors were noted in 12/20 WDP (5 years of age: 8/8) and 1/20 SDPs (p<0.00001). Using exclusion analysis, four OCA causative genes were investigated for their association with WDP phenotype; TYR, OCA2, TYRP1 and SLC45A2. SLC45A2 was found to be linked to the phenotype and gene sequencing revealed a 4,081 base pair deletion resulting in loss of the terminus of exon seven of SLC45A2 (chr4∶77,062,968-77,067,051). This mutation is highly likely to be the cause of the WDP phenotype and is supported by a lack of detectable SLC45A2 transcript levels by reverse transcriptase PCR. The WDP provides a valuable model for studying OCA4 visual disturbances and melanocytic neoplasms in a large animal model.

  17. Albinism-causing mutations in recombinant human tyrosinase alter intrinsic enzymatic activity.

    Directory of Open Access Journals (Sweden)

    Monika B Dolinska

    Full Text Available Tyrosinase (TYR catalyzes the rate-limiting, first step in melanin production and its gene (TYR is mutated in many cases of oculocutaneous albinism (OCA1, an autosomal recessive cause of childhood blindness. Patients with reduced TYR activity are classified as OCA1B; some OCA1B mutations are temperature-sensitive. Therapeutic research for OCA1 has been hampered, in part, by the absence of purified, active, recombinant wild-type and mutant human enzymes.The intra-melanosomal domain of human tyrosinase (residues 19-469 and two OCA1B related temperature-sensitive mutants, R422Q and R422W were expressed in insect cells and produced in T. ni larvae. The short trans-membrane fragment was deleted to avoid potential protein insolubility, while preserving all other functional features of the enzymes. Purified tyrosinase was obtained with a yield of >1 mg per 10 g of larval biomass. The protein was a monomeric glycoenzyme with maximum enzyme activity at 37°C and neutral pH. The two purified mutants when compared to the wild-type protein were less active and temperature sensitive. These differences are associated with conformational perturbations in secondary structure.The intramelanosomal domains of recombinant wild-type and mutant human tyrosinases are soluble monomeric glycoproteins with activities which mirror their in vivo function. This advance allows for the structure - function analyses of different mutant TYR proteins and correlation with their corresponding human phenotypes; it also provides an important tool to discover drugs that may improve tyrosinase activity and treat OCA1.

  18. A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs.

    Directory of Open Access Journals (Sweden)

    Paige A Winkler

    Full Text Available The first white Doberman pinscher (WDP dog was registered by the American Kennel Club in 1976. The novelty of the white coat color resulted in extensive line breeding of this dog and her offspring. The WDP phenotype closely resembles human oculocutaneous albinism (OCA and clinicians noticed a seemingly high prevalence of pigmented masses on these dogs. This study had three specific aims: (1 produce a detailed description of the ocular phenotype of WDPs, (2 objectively determine if an increased prevalence of ocular and cutaneous melanocytic tumors was present in WDPs, and (3 determine if a genetic mutation in any of the genes known to cause human OCA is causal for the WDP phenotype. WDPs have a consistent ocular phenotype of photophobia, hypopigmented adnexal structures, blue irides with a tan periphery and hypopigmented retinal pigment epithelium and choroid. WDPs have a higher prevalence of cutaneous melanocytic neoplasms compared with control standard color Doberman pinschers (SDPs; cutaneous tumors were noted in 12/20 WDP (5 years of age: 8/8 and 1/20 SDPs (p<0.00001. Using exclusion analysis, four OCA causative genes were investigated for their association with WDP phenotype; TYR, OCA2, TYRP1 and SLC45A2. SLC45A2 was found to be linked to the phenotype and gene sequencing revealed a 4,081 base pair deletion resulting in loss of the terminus of exon seven of SLC45A2 (chr4∶77,062,968-77,067,051. This mutation is highly likely to be the cause of the WDP phenotype and is supported by a lack of detectable SLC45A2 transcript levels by reverse transcriptase PCR. The WDP provides a valuable model for studying OCA4 visual disturbances and melanocytic neoplasms in a large animal model.

  19. Macular pigment optical density spatial distribution measured in a subject with oculocutaneous albinism.

    Science.gov (United States)

    Putnam, Christopher M; Bland, Pauline J

    2014-01-01

    Previous studies of macular pigment optical density (MPOD) distribution in individuals with oculocutaneous albinism (OCA) have primarily used objective measurement techniques including fundus reflectometry and autofluorescence. We report here on a subject with OCA and their corresponding MPOD distribution assessed through heterochromatic flicker photometry (HFP). A subject with a history of OCA presented with an ocular history including strabismus surgery of the LE with persistent amblyopia and mild, latent nystagmus. Best corrected visual acuity was 20/25- RE and 20/40- LE. Spectral domain optical coherence tomography (SD-OCT) and fundus photography were also obtained. Evaluation of MPOD spatial distribution up to 8 degrees eccentricity from the fovea was performed using HFP. SD-OCT indicated a persistence of multiple inner retinal layers within the foveal region in the RE and LE including symmetric foveal thickening consistent with foveal hypoplasia. Fundus photography showed mild retinal pigmented epithelial (RPE) hypopigmentation and a poorly demarcated macula. OriginPro 9 was used to plot MPOD spatial distribution of the subject and a 33-subject sample. The OCA subject demonstrated a foveal MPOD of 0.10 with undetectable levels at 6 degrees eccentricity. The study sample showed a mean foveal MPOD of 0.34 and mean 6 degree eccentricity values of 0.03. Consistent with previous macular pigment (MP) studies of OCA, overall MPOD is reduced in our subject. Mild phenotypic expression of OCA with high functional visual acuity may represent a Henle fiber layer amenable to additional MP deposition. Further study of MP supplementation in OCA patients is warranted. Copyright © 2014 Spanish General Council of Optometry. Published by Elsevier Espana. All rights reserved.

  20. Albinism-Causing Mutations in Recombinant Human Tyrosinase Alter Intrinsic Enzymatic Activity

    Science.gov (United States)

    Dolinska, Monika B.; Kovaleva, Elena; Backlund, Peter; Wingfield, Paul T.; Brooks, Brian P.; Sergeev, Yuri V.

    2014-01-01

    Background Tyrosinase (TYR) catalyzes the rate-limiting, first step in melanin production and its gene (TYR) is mutated in many cases of oculocutaneous albinism (OCA1), an autosomal recessive cause of childhood blindness. Patients with reduced TYR activity are classified as OCA1B; some OCA1B mutations are temperature-sensitive. Therapeutic research for OCA1 has been hampered, in part, by the absence of purified, active, recombinant wild-type and mutant human enzymes. Methodology/Principal Findings The intra-melanosomal domain of human tyrosinase (residues 19–469) and two OCA1B related temperature-sensitive mutants, R422Q and R422W were expressed in insect cells and produced in T. ni larvae. The short trans-membrane fragment was deleted to avoid potential protein insolubility, while preserving all other functional features of the enzymes. Purified tyrosinase was obtained with a yield of >1 mg per 10 g of larval biomass. The protein was a monomeric glycoenzyme with maximum enzyme activity at 37°C and neutral pH. The two purified mutants when compared to the wild-type protein were less active and temperature sensitive. These differences are associated with conformational perturbations in secondary structure. Conclusions/Significance The intramelanosomal domains of recombinant wild-type and mutant human tyrosinases are soluble monomeric glycoproteins with activities which mirror their in vivo function. This advance allows for the structure – function analyses of different mutant TYR proteins and correlation with their corresponding human phenotypes; it also provides an important tool to discover drugs that may improve tyrosinase activity and treat OCA1. PMID:24392141

  1. Characterization of Abnormal Optic Nerve Head Morphology in Albinism Using Optical Coherence Tomography.

    Science.gov (United States)

    Mohammad, Sarim; Gottlob, Irene; Sheth, Viral; Pilat, Anastasia; Lee, Helena; Pollheimer, Ellen; Proudlock, Frank Anthony

    2015-07-01

    To characterize abnormalities in three-dimensional optic nerve head (ONH) morphology in people with albinism (PWA) using spectral-domain optical coherence tomography (SD-OCT) and to determine whether ONH abnormalities relate to other retinal and clinical abnormalities. Spectral-domain OCT was used to obtain three-dimensional images from 56 PWA and 60 age- and sex-matched control subjects. B-scans were corrected for nystagmus-associated motion artefacts. Disc, cup, and rim ONH dimensions and peripapillary retinal nerve fiber layer (ppRNFL) thickness were calculated using Copernicus and ImageJ software. Median disc areas were similar in PWA (median = 1.65 mm2) and controls (1.71 mm2, P = 0.128), although discs were significantly elongated horizontally in PWA (P < 0.001). In contrast, median optic cup area in PWA (0.088 mm2) was 23.7% of that in controls (0.373 mm2, P < 0.001), with 39.4% of eyes in PWA not demonstrating a measurable optic cup. This led to significantly smaller cup to disc ratios in PWA (P < 0.001). Median rim volume in PWA (0.273 mm3) was 136.6% of that in controls (0.200 mm3). The ppRNFL was significantly thinner in PWA compared with controls (P < 0.001), especially in the temporal quadrant. In PWA, ppRNFL thickness was correlated to ganglion cell thickness at the central fovea (P = 0.007). Several ONH abnormalities, such as cup to disc ratio, were related to higher refractive errors in PWA. In PWA, ocular maldevelopment is not just limited to the retina but also involves the ONH. Reduced ppRNFL thickness is consistent with previous reports of reduced ganglion cell numbers in PWA. The thicker rim volumes may be a result of incomplete maturation of the ONH.

  2. Eight previously unidentified mutations found in the OA1 ocular albinism gene

    Directory of Open Access Journals (Sweden)

    Dufier Jean-Louis

    2006-04-01

    Full Text Available Abstract Background Ocular albinism type 1 (OA1 is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelanosomes in pigmented skin and eye cells, and misrouting of the optical tracts. This disease is primarily caused by mutations in the OA1 gene. Methods The ophthalmologic phenotype of the patients and their family members was characterized. We screened for mutations in the OA1 gene by direct sequencing of the nine PCR-amplified exons, and for genomic deletions by PCR-amplification of large DNA fragments. Results We sequenced the nine exons of the OA1 gene in 72 individuals and found ten different mutations in seven unrelated families and three sporadic cases. The ten mutations include an amino acid substitution and a premature stop codon previously reported by our team, and eight previously unidentified mutations: three amino acid substitutions, a duplication, a deletion, an insertion and two splice-site mutations. The use of a novel Taq polymerase enabled us to amplify large genomic fragments covering the OA1 gene. and to detect very likely six distinct large deletions. Furthermore, we were able to confirm that there was no deletion in twenty one patients where no mutation had been found. Conclusion The identified mutations affect highly conserved amino acids, cause frameshifts or alternative splicing, thus affecting folding of the OA1 G protein coupled receptor, interactions of OA1 with its G protein and/or binding with its ligand.

  3. GPR143 mutations in Chinese patients with ocular albinism type 1.

    Science.gov (United States)

    Jia, Xiuhua; Yuan, Jin; Jia, Xiaoyun; Ling, Shiqi; Li, Shiqiang; Guo, Xiangming

    2017-05-01

    The aim of the present study was to evaluate mutations of the G protein-coupled receptor 143 (GPR143) gene for ocular albinism type 1 (OA1) in Chinese patients. For the current study, 8 patients with OA1 were selected from the database of ocular genetic diseases. Genomic DNA of OA1 was prepared from venous leukocytes collected from the patients. Cycle sequencing was used to analyze the exons and adjacent introns of GPR143. The variation detected was analyzed by bidirectional DNA sequencing and further evaluated in 96 controls using heteroduplex‑single strand conformational polymorphism analysis. Additionally, slit lamp photography of anterior segment, fundus photography and optical coherence tomography (OCT) were performed to identify the clinical features of OA1. In five patients with OA1, 5 GPR143 gene mutations were identified and four of them there were novel mutations. The screening rate is 62.5%, including c.333G>A (p.W111X), c.353G>A (p.G118E) (known mutation), C.658+2T>G (splice mutation), c.215_216insCGCTGC (p.71‑72insAA) and c.17T>C (p. L6P). These mutations were absent in the 96 normal controls. Only one patient with OA1 in the present study was female. Patients with OA1 often have congenital nystagmus, refractive error, severe decline of visual acuity (from 0.1 to 0.4) and foveal hypoplasia. Different degrees of pigment loss were evident in the patients' iris and retina, whereas macular structure was not identified in the OCT examination. The findings of the present study expanded the gene mutation spectrum of GPR143 and investigated the clinical phenotype of patients with OA1 in the Chinese population. Additional evidence for clinical diagnosis was provided along with differential diagnosis and genetic counseling.

  4. Albinism-causing mutations in recombinant human tyrosinase alter intrinsic enzymatic activity.

    Science.gov (United States)

    Dolinska, Monika B; Kovaleva, Elena; Backlund, Peter; Wingfield, Paul T; Brooks, Brian P; Sergeev, Yuri V

    2014-01-01

    Tyrosinase (TYR) catalyzes the rate-limiting, first step in melanin production and its gene (TYR) is mutated in many cases of oculocutaneous albinism (OCA1), an autosomal recessive cause of childhood blindness. Patients with reduced TYR activity are classified as OCA1B; some OCA1B mutations are temperature-sensitive. Therapeutic research for OCA1 has been hampered, in part, by the absence of purified, active, recombinant wild-type and mutant human enzymes. The intra-melanosomal domain of human tyrosinase (residues 19-469) and two OCA1B related temperature-sensitive mutants, R422Q and R422W were expressed in insect cells and produced in T. ni larvae. The short trans-membrane fragment was deleted to avoid potential protein insolubility, while preserving all other functional features of the enzymes. Purified tyrosinase was obtained with a yield of >1 mg per 10 g of larval biomass. The protein was a monomeric glycoenzyme with maximum enzyme activity at 37°C and neutral pH. The two purified mutants when compared to the wild-type protein were less active and temperature sensitive. These differences are associated with conformational perturbations in secondary structure. The intramelanosomal domains of recombinant wild-type and mutant human tyrosinases are soluble monomeric glycoproteins with activities which mirror their in vivo function. This advance allows for the structure - function analyses of different mutant TYR proteins and correlation with their corresponding human phenotypes; it also provides an important tool to discover drugs that may improve tyrosinase activity and treat OCA1.

  5. An interesting case of bilateral bifid insertion of superior rectus muscle as an intra-operative finding in a patient with oculocutaneous albinism.

    Science.gov (United States)

    Verma, Rashmi; Hertle, Richard W

    2014-08-01

    We report a case of bilateral bifid insertion of superior rectus muscles, in a patient with oculocutaneous albinism as an incidental intraoperative finding during eye muscle surgery. The muscle was successfully operated on and the patient did well postoperatively. To our knowledge, this is the first report of this anomaly.

  6. Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

    NARCIS (Netherlands)

    Schiaffino, M. V.; Bassi, M. T.; Galli, L.; Renieri, A.; Bruttini, M.; de Nigris, F.; Bergen, A. A.; Charles, S. J.; Yates, J. R.; Meindl, A.

    1995-01-01

    The locus for ocular albinism type 1 (OA1) has been assigned to the Xp22.3 region through both linkage and deletion mapping. The disorder was found to be genetically homogeneous, as all informative families showed convincing linkage data with markers on Xp22.3 and all identified deletions involved

  7. Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis

    NARCIS (Netherlands)

    Bergen, A. A.; Samanns, C.; van Dorp, D. B.; Ferguson-Smith, M. A.; Gal, A.; Bleeker-Wagemakers, E. M.

    1990-01-01

    Linkage analysis was performed in six families segregating for X-linked ocular albinism of the Nettleship-Falls type using four polymorphic DNA markers from the distal Xp. Linkage was found between the disease locus (OA1) and the loci DXS237 (theta max = 0.06, Zmax = 2.82), DXS278 (theta max = 0.03,

  8. Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

    NARCIS (Netherlands)

    Bassi, M. T.; Bergen, A. A.; Bitoun, P.; Charles, S. J.; Clementi, M.; Gosselin, R.; Hurst, J.; Lewis, R. A.; Lorenz, B.; Meitinger, T.; Messiaen, L.; Ramesar, R. S.; Ballabio, A.; Schiaffino, M. V.

    2001-01-01

    Ocular albinism type 1 (OA1) is an X-linked disorder mainly characterized by congenital nystagmus and photodysphoria, moderate to severe reduction of visual acuity, hypopigmentation of the retina, and the presence of macromelanosomes in the skin and eyes. We have previously isolated the gene for OA1

  9. Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

    Science.gov (United States)

    Khordadpoor-Deilamani, Faravareh; Akbari, Mohammad Taghi; Karimipoor, Morteza; Javadi, Gholam Reza

    2016-05-01

    Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented hair, skin and eyes. It is associated with decreased visual acuity, nystagmus, strabismus and photophobia. Six genes are known to be involved in nonsyndromic oculocutaneous albinism (OCA). In this study, we aimed to find the disease causing mutations in albinism patients using homozygosity mapping. Twenty three unrelated patients with nonsyndromic OCA or autosomal recessive ocular albinism were recruited in this study. All of the patients' parents had consanguineous marriage and all were screened for TYR mutations previously. At first, we performed homozygosity mapping using fluorescently labeled primers to amplify a novel panel of 13 STR markers inside the OCA genes and then the screened loci in each family were studied using PCR and cycle sequencing methods. We found five mutations including three mutations in OCA2, one mutation in SLC45A2 and one mutation in C10ORF11 genes, all of which were novel. In cases where the disease causing mutations are identical by descent due to a common ancestor, these STR markers can enable us to screen for the responsible genes.

  10. Femtosecond laser-assisted keratoplasty combined with cataract extraction in a patient with keratoconus and oculocutaneous albinism

    Directory of Open Access Journals (Sweden)

    Dorottya Pásztor

    2016-01-01

    Full Text Available In this study, we present a case of a 58-year-old male patient with oculocutaneous albinism, keratoconus, total cataract, and glaucoma originating from father-daughter incest. He underwent femtosecond laser-assisted keratoplasty with “open-sky” cataract extraction and posterior chamber intraocular lens implantation. One week after surgery his uncorrected visual acuity improved from hand motion to 20/200. Six months later corneal K values were 49.1 D in the flat and 50.0 D in the steep meridian. The graft had a central corneal thickness of 488 µm and was well fitted. The patient's quality of life improved substantially due to the surgery. To the best of our knowledge, this is the first report on the association of albinism with advanced keratoconus, total cataract, and glaucoma. Moreover, no previous report on femtosecond laser-assisted keratoplasty using VisuMax femtosecond laser system with “open-sky” cataract extraction is available in the literature. The VisuMax femtosecond laser-assisted keratoplasty ensures fast patient rehabilitation in such challenging cases.

  11. Femtosecond laser-assisted keratoplasty combined with cataract extraction in a patient with keratoconus and oculocutaneous albinism.

    Science.gov (United States)

    Pásztor, Dorottya; Kolozsvári, Bence Lajos; Losonczy, Gergely; Fodor, Mariann

    2016-03-01

    In this study, we present a case of a 58-year-old male patient with oculocutaneous albinism, keratoconus, total cataract, and glaucoma originating from father-daughter incest. He underwent femtosecond laser-assisted keratoplasty with "open-sky" cataract extraction and posterior chamber intraocular lens implantation. One week after surgery his uncorrected visual acuity improved from hand motion to 20/200. Six months later corneal K values were 49.1 D in the flat and 50.0 D in the steep meridian. The graft had a central corneal thickness of 488 µm and was well fitted. The patient's quality of life improved substantially due to the surgery. To the best of our knowledge, this is the first report on the association of albinism with advanced keratoconus, total cataract, and glaucoma. Moreover, no previous report on femtosecond laser-assisted keratoplasty using VisuMax femtosecond laser system with "open-sky" cataract extraction is available in the literature. The VisuMax femtosecond laser-assisted keratoplasty ensures fast patient rehabilitation in such challenging cases.

  12. Identification of a mutation in the tyrosinase related protein 1 (TRP1) gene associated with brown oculocutaneous albinism (OCA3)

    Energy Technology Data Exchange (ETDEWEB)

    Wildenberg, S.C.; Oetting, W.S.; Fryer, J.P. [Univ. of Minnesota, Minneapolis, MN (United States)] [and others

    1994-09-01

    The genes responsible for the two most common types of human oculocutaneous albinism (OCA) have been identified. Mutations of the tyrosinase gene (chromosome 11q14-21) produce OCA1, and mutations of the P gene (chromosome 15q11.2-13) produce OCA2. Another type of OCA known as brown OCA or OCA3 is found commonly in the African and African-American population. OCA3 is characterized by light brown skin and hair with the ocular features of albinism and represents the third most frequent type of OCA. We previously identified dizygotic African-American twin boys who were discordant for OCA3. Melanocytes from the affected twin produced brown melanin and contained no detectable TRP1 protein. We have now characterized the TRP1 gene from the affected twin. The human TRP1 gene, homologous to the murine brown locus, contains 8 exons and maps to chromosome 9p23. Using PCR amplification of each exon coupled with SSCP analysis and direct DNA sequencing, we found the affected twin to homozygous for a single bp deletion in exon 6. The deletion removes a G in codon 368 leading to a premature stop at codon 384. We also identified a Tsp509 polymorphism in the 3{prime} UTR. We conclude that mutations of the TRP1 gene are responsible for brown OCA or OCA3, making this the third major OCA gene identified in humans.

  13. A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella).

    Science.gov (United States)

    Galante Rocha de Vasconcelos, Felipe Tadeu; Hauzman, Einat; Dutra Henriques, Leonardo; Kilpp Goulart, Paulo Roney; de Faria Galvão, Olavo; Sano, Ronaldo Yuiti; da Silva Souza, Givago; Lynch Alfaro, Jessica; de Lima Silveira, Luis Carlos; Fix Ventura, Dora; Oliveira Bonci, Daniela Maria

    2017-05-05

    Oculocutaneous Albinism (OCA) is an autosomal recessive inherited condition that affects the pigmentation of eyes, hair and skin. The OCA phenotype may be caused by mutations in the tyrosinase gene (TYR), which expresses the tyrosinase enzyme and has an important role in the synthesis of melanin pigment. The aim of this study was to identify the genetic mutation responsible for the albinism in a captive capuchin monkey, and to describe the TYR gene of normal phenotype individuals. In addition, we identified the subject's species. A homozygous nonsense mutation was identified in exon 1 of the TYR gene, with the substitution of a cytosine for a thymine nucleotide (C64T) at codon 22, leading to a premature stop codon (R22X) in the albino robust capuchin monkey. The albino and five non-albino robust capuchin monkeys were identified as Sapajus apella, based on phylogenetic analyses, pelage pattern and geographic provenance. One individual was identified as S. macrocephalus. We conclude that the point mutation C64T in the TYR gene is responsible for the OCA1 albino phenotype in the capuchin monkey, classified as Sapajus apella.

  14. Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1.

    Science.gov (United States)

    De Filippo, Elisabetta; Schiedel, Anke C; Manga, Prashiela

    2017-02-01

    Developmental eye defects in X-linked ocular albinism type 1 are caused by G-protein coupled receptor 143 (GPR143) mutations. Mutations result in dysfunctional melanosome biogenesis and macromelanosome formation in pigment cells, including melanocytes and retinal pigment epithelium. GPR143, primarily expressed in pigment cells, localizes exclusively to endolysosomal and melanosomal membranes unlike most G protein-coupled receptors, which localize to the plasma membrane. There is some debate regarding GPR143 function and elucidating the role of this receptor may be instrumental for understanding neurogenesis during eye development and for devising therapies for ocular albinism type I. Many G protein-coupled receptors require association with other proteins to function. These G protein-coupled receptor-interacting proteins also facilitate fine-tuning of receptor activity and tissue specificity. We therefore investigated potential GPR143 interaction partners, with a focus on the melanogenic enzyme tyrosinase. GPR143 coimmunoprecipitated with tyrosinase, while confocal microscopy demonstrated colocalization of the proteins. Furthermore, tyrosinase localized to the plasma membrane when coexpressed with a GPR143 trafficking mutant. The physical interaction between the proteins was confirmed using fluorescence resonance energy transfer. This interaction may be required in order for GPR143 to function as a monitor of melanosome maturation. Identifying tyrosinase as a potential GPR143 binding protein opens new avenues for investigating the mechanisms that regulate pigmentation and neurogenesis. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  15. Quantification and comparison of psychiatric distress in African patients with albinism and vitiligo: a 5-year prospective study.

    Science.gov (United States)

    Ajose, F O A; Parker, R A; Merrall, E L C; Adewuya, A O; Zachariah, M P

    2014-07-01

    Vitiligo and albinism are two disorders of pigmentation that make the affected African highly visible and strikingly different from their peers. Both pose considerable management challenges, attract significant stigma and profound impairment of quality of life. To determine and compare psychiatric distress in vitiligo and albinism using the Hospital Anxiety and Depression Scale (HADS). Participants were 87 albinos and 102 vitiligo adult patients seen at an urban tertiary hospital in Nigeria between 2004 and 2009. Prevalence of psycho morbidity was 59% (60/102) in vitiligo compared with 26% (23/87) in the albinos. The mean anxiety score was estimated to be 2.55 points lower for albino patients (95% CI: 1.47 to 3.64), and the mean depression score 2.76 points lower (95% CI: 1.84 to 3.68), after adjustment for age, sex and marital status. However, significant differences were not observed when comparing the vitiligo patients with the subset of albino patients with skin cancer. Older patients had significantly higher anxiety and depression scores. Females had significantly higher anxiety scores (but not depression scores) compared to males. Genital involvement in vitiligo was significantly associated with anxiety but not depression. We found that the African with vitiligo suffers significantly higher psychiatric distress than the African albino on average. Clinical evaluation of these patients would be incomplete without assessment of their psycho morbidity. There is need for increased focus on cancer prevention strategies in the African albino. © 2013 European Academy of Dermatology and Venereology.

  16. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.

    Science.gov (United States)

    Newton, J M; Cohen-Barak, O; Hagiwara, N; Gardner, J M; Davisson, M T; King, R A; Brilliant, M H

    2001-11-01

    Oculocutaneous albinism (OCA) affects approximately 1/20,000 people worldwide. All forms of OCA exhibit generalized hypopigmentation. Reduced pigmentation during eye development results in misrouting of the optic nerves, nystagmus, alternating strabismus, and reduced visual acuity. Loss of pigmentation in the skin leads to an increased risk for skin cancer. Two common forms and one infrequent form of OCA have been described. OCA1 (MIM 203100) is associated with mutations of the TYR gene encoding tyrosinase (the rate-limiting enzyme in the production of melanin pigment) and accounts for approximately 40% of OCA worldwide. OCA2 (MIM 203200), the most common form of OCA, is associated with mutations of the P gene and accounts for approximately 50% of OCA worldwide. OCA3 (MIM 203290), a rare form of OCA and also known as "rufous/red albinism," is associated with mutations in TYRP1 (encoding tyrosinase-related protein 1). Analysis of the TYR and P genes in patients with OCA suggests that other genes may be associated with OCA. We have identified the mouse underwhite gene (uw) and its human orthologue, which underlies a new form of human OCA, termed "OCA4." The encoded protein, MATP (for "membrane-associated transporter protein") is predicted to span the membrane 12 times and likely functions as a transporter.

  17. A novel form of {open_quotes}Tyrosinase-positive{close_quotes} oculocutaneous albinism

    Energy Technology Data Exchange (ETDEWEB)

    Fukai, K.; Lee, S.T.; Bundey, S.; Spritz, R.A. [Univ. of Wisconsin, Madison, WI (United States)]|[Birmingham Maternity Hospital, Birmingham (United Kingdom)

    1994-09-01

    Tyrosinase-positive oculocutaneous albinism (ty-pos OCA) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is greatly reduced in the skin, hair, and eyes. We have shown that typical ty-pos OCA (OCA2) results from mutations of the P gene in chromosome segment 15q11-q13. We have also shown that some patients diagnosed with ty-pos OCA actually have mild forms of type I OCA (OCAI), resulting from mutations at the tyrosinase (TYR) gene at 11q14-q21. However, in about one-third of patients with ty-pos OCA we have failed to identify abnormalities of either the P or TYR genes, suggesting the possible existence of a third ty-pos OCA locus. To test this hypothesis, we investigated a large, complex, inbred Pakistani kindred. Affected individuals exhibit slight skin pigmentation with no tanning, hair that is silver at birth and darkens somewhat over time, brown irides, and reduced visual acuity with nystagmus. SSCP/heteroduplex screening and complete DNA sequence analysis of TYR gene in the proband identified no abnormalities, and analysis of a CA repeat in the TYR gene promoter showed no linkage of ty-pos OCA to this marker in this kindred. SSCP/ heteroduplex screening of the P gene also detected no abnormalities, and the (inbred) proband was heterozygous for numerous intragenic polymorphisms. These data thus exclude TYP and P. We next carried out genetic linkage analyses and homozygisty mapping using various SSLP repeats at the locations of the human homologues of the mouse brown (TYRP, 9p23), slaty (13q32), and silver (12pter-q21) genes, all of which are associated with generalized hypopigmentation in mutant animals. However, we found no evidence of linkage of any of these markers. We are currently carrying out similar analyses using markers near the putative locations of the human homologues of several other mouse hypopigmentation genes in an effort to map this novel human ty-pos OCA locus.

  18. Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.

    Science.gov (United States)

    Wei, Ai-Hua; Zang, Dong-Jie; Zhang, Zhao; Yang, Xiu-Min; Li, Wei

    2015-06-20

    Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypopigmentation in eyes, hair and skin, accompanied with vision loss. Currently, six genes have been identified as causative genes for non-syndromic OCA (OCA-1∼4, 6, 7), and ten genes for syndromic OCA (HPS-1-9, CHS-1). Genetic counseling of 51 Chinese OCA families (39 OCA-1 with mutations in the TYR gene, 6 OCA-2 with mutations in the OCA2 gene, 4 OCA-4 with mutations in the SLC45A2 gene, 1 HPS-1 (Hermansky-Pudlak syndrome-1) with mutation in the HPS1 gene, and 1 mixed OCA-1 and OCA-4) led us to perform the prenatal genetic testing of OCA using amniotic fluid cells through the implementation of our optimized strategy. In our cohort, eleven previously unidentified alleles (PUAs) (5 in TYR, 2 in OCA2, and 4 in SLC45A2) were found. Three missense PUAs (p.C112R, p.H363R and p.G379V of TYR) and one in-frame deletional PUA (p.S222del of SLC24A5) led to fetuses with OCA when co-inherited with other disease causative alleles. Three PUAs (p.P152H and p.W272X of TYR, p.A486T of SLC24A5) identified in the OCA probands did not co-transmit with known pathological alleles and thus gave rise to unaffected fetuses. Four PUAs (p.Q83X and p.A658T of TYR, p.G161R and p.G366R of SLC24A5) did not transmit to the unaffected fetuses. In addition, the in vitro transfection assays showed that the p.S192Y variant of TYR produced less pigment compared to the wild-type allele. A fetus with a digenic carrier of OCA-1 and OCA-4 was unaffected. In combination with functional assays, the family inheritance pattern is useful for the evaluation of pathogenicity of PUAs and genetic counseling of OCA. Copyright © 2015 Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. Published by Elsevier Ltd. All rights reserved.

  19. Transatlanticism and "Natural Sympathy" in Christian Isobel Johnstone’s Clan-Albin: A National Tale (1815

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    Jennifer Marie Van Vliet

    2012-10-01

    Full Text Available In the decades between Samuel Johnson’s and James Boswell’s tour of the Hebrides and the popular success of Walter Scott’s Waverley novels, a series of synecdochic associations gradually positioned the Highlands as the symbolic cornerstone of British romance and improvement discourses, while Scotland became an integral part of the British Empire. As the popular image of the Highlander had a distinctly martial resonance, transatlantic emigration became a national concern and contributed to the increase in attention paid to improvement in the Highlands. With Clan-Albin: A National Tale (1815, Christian Isobel Johnstone attempts to reconcile the popular imaginings of the Highlands as a pre-modern picturesque microcosm and a “nursery of soldiers” with the sociocultural effects of the Clearances, transforming a culturally and racially distinct Highland hamlet into a thriving pan-British community.

  20. Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

    Science.gov (United States)

    Rimoldi, Valeria; Straniero, Letizia; Asselta, Rosanna; Mauri, Lucia; Manfredini, Emanuela; Penco, Silvana; Gesu, Giovanni P; Del Longo, Alessandra; Piozzi, Elena; Soldà, Giulia; Primignani, Paola

    2014-03-01

    Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. OCA type II (OCA2) is one of the four commonly-recognized forms of albinism, and is determined by mutation in the OCA2 gene. In the present study, we investigated the molecular basis of OCA2 in two siblings and one unrelated patient. The mutational screening of the OCA2 gene identified two hitherto-unknown putative splicing mutations. The first one (c.1503+5G>A), identified in an Italian proband and her affected sibling, lies in the consensus sequence of the donor splice site of OCA2 intron 14 (IVS14+5G>A), in compound heterozygosity with a frameshift mutation, c.1450_1451insCTGCCCTGACA, which is predicted to determine the premature termination of the polypeptide chain (p.I484Tfs*19). In-silico prediction of the effect of the IVS14+5G>A mutation on splicing showed a score reduction for the mutant splice site and indicated the possible activation of a newly-created deep-intronic acceptor splice site. The second mutation is a synonymous transition (c.2139G>A, p.K713K) involving the last nucleotide of exon 20. This mutation was found in a young African albino patient in compound heterozygosity with a previously-reported OCA2 missense mutation (p.T404M). In-silico analysis predicted that the mutant c.2139G>A allele would result in the abolition of the splice donor site. The effects on splicing of these two novel mutations were investigated using an in-vitro hybrid-minigene approach that led to the demonstration of the causal role of the two mutations and to the identification of aberrant transcript variants. Copyright © 2013 Elsevier B.V. All rights reserved.

  1. Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population

    Science.gov (United States)

    2012-01-01

    Background Oculocutaneous albinism (OCA) is caused by a group of genetically heterogeneous inherited defects that result in the loss of pigmentation in the eyes, skin and hair. Mutations in the TYR, OCA2, TYRP1 and SLC45A2 genes have been shown to cause isolated OCA. No comprehensive analysis has been conducted to study the spectrum of OCA alleles prevailing in Pakistani albino populations. Methods We enrolled 40 large Pakistani families and screened them for OCA genes and a candidate gene, SLC24A5. Protein function effects were evaluated using in silico prediction algorithms and ex vivo studies in human melanocytes. The effects of splice-site mutations were determined using an exon-trapping assay. Results Screening of the TYR gene revealed four known (p.Arg299His, p.Pro406Leu, p.Gly419Arg, p.Arg278*) and three novel mutations (p.Pro21Leu, p.Cys35Arg, p.Tyr411His) in ten families. Ex vivo studies revealed the retention of an EGFP-tagged mutant (p.Pro21Leu, p.Cys35Arg or p.Tyr411His) tyrosinase in the endoplasmic reticulum (ER) at 37°C, but a significant fraction of p.Cys35Arg and p.Tyr411His left the ER in cells grown at a permissive temperature (31°C). Three novel (p.Asp486Tyr, p.Leu527Arg, c.1045-15 T > G) and two known mutations (p.Pro743Leu, p.Ala787Thr) of OCA2 were found in fourteen families. Exon-trapping assays with a construct containing a novel c.1045-15 T > G mutation revealed an error in splicing. No mutation in TYRP1, SLC45A2, and SLC24A5 was found in the remaining 16 families. Clinical evaluation of the families segregating either TYR or OCA2 mutations showed nystagmus, photophobia, and loss of pigmentation in the skin or hair follicles. Most of the affected individuals had grayish-blue colored eyes. Conclusions Our results show that ten and fourteen families harbored mutations in the TYR and OCA2 genes, respectively. Our findings, along with the results of previous studies, indicate that the p.Cys35Arg, p.Arg278* and p.Gly419Arg alleles

  2. Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population

    Directory of Open Access Journals (Sweden)

    Jaworek Thomas J

    2012-06-01

    Full Text Available Abstract Background Oculocutaneous albinism (OCA is caused by a group of genetically heterogeneous inherited defects that result in the loss of pigmentation in the eyes, skin and hair. Mutations in the TYR, OCA2, TYRP1 and SLC45A2 genes have been shown to cause isolated OCA. No comprehensive analysis has been conducted to study the spectrum of OCA alleles prevailing in Pakistani albino populations. Methods We enrolled 40 large Pakistani families and screened them for OCA genes and a candidate gene, SLC24A5. Protein function effects were evaluated using in silico prediction algorithms and ex vivo studies in human melanocytes. The effects of splice-site mutations were determined using an exon-trapping assay. Results Screening of the TYR gene revealed four known (p.Arg299His, p.Pro406Leu, p.Gly419Arg, p.Arg278* and three novel mutations (p.Pro21Leu, p.Cys35Arg, p.Tyr411His in ten families. Ex vivo studies revealed the retention of an EGFP-tagged mutant (p.Pro21Leu, p.Cys35Arg or p.Tyr411His tyrosinase in the endoplasmic reticulum (ER at 37°C, but a significant fraction of p.Cys35Arg and p.Tyr411His left the ER in cells grown at a permissive temperature (31°C. Three novel (p.Asp486Tyr, p.Leu527Arg, c.1045-15 T > G and two known mutations (p.Pro743Leu, p.Ala787Thr of OCA2 were found in fourteen families. Exon-trapping assays with a construct containing a novel c.1045-15 T > G mutation revealed an error in splicing. No mutation in TYRP1, SLC45A2, and SLC24A5 was found in the remaining 16 families. Clinical evaluation of the families segregating either TYR or OCA2 mutations showed nystagmus, photophobia, and loss of pigmentation in the skin or hair follicles. Most of the affected individuals had grayish-blue colored eyes. Conclusions Our results show that ten and fourteen families harbored mutations in the TYR and OCA2 genes, respectively. Our findings, along with the results of previous studies, indicate that the p.Cys35Arg, p.Arg278

  3. Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community.

    Science.gov (United States)

    Johanson, Helene C; Chen, Wei; Wicking, Carol; Sturm, Richard A

    2010-02-01

    Oculocutaneous albinism type 2 (OCA2) is a human autosomal-recessive hypopigmentation disorder associated with pathological mutations of the OCA2 gene. In this study, we investigated a form of OCA in a Polynesian population with an observed phenotype characterized by fair skin, some brown nevi present in the sun-exposed areas and green or blue eyes. Hair presented with a unique red coloration since birth, with tones ranging across individuals from Yellow-Red to Brown-Red, or Auburn. We genetically screened for mutations in the OCA2 and MC1R genes as their products have previously been shown to be associated with red hair/fair skin and OCA2. The SLC45A2 gene was also screened to identify any possible relation to skin color variation. We have identified a novel missense substitution in the OCA2 gene (Gly775Asp) responsible for OCA2 in individuals of Polynesian heritage from Tuvalu. The estimated incidence of this form of OCA2 in the primary study community is believed to occur at one of the highest recorded rates of albinism at approximately 1 per 669 individuals. In addition, we have analyzed four unrelated individuals with albinism who have Polynesian heritage from three other separate communities and found they carry the same OCA2 mutation. We also analyzed an out-group comprising three unrelated individuals with albinism of Melanesian ancestries from two separate communities, one Australian Aboriginal and three Australian Caucasians, and did not detect this mutation. We hypothesize that this mutation may be Polynesian specific and that it originated from a common founder.

  4. Albinism in phylogenetically and geographically distinct populations of Astyanax cavefish arises through the same loss-of-function Oca2 allele

    Science.gov (United States)

    Gross, J B; Wilkens, H

    2013-01-01

    The Mexican tetra, Astyanax mexicanus, comprises 29 populations of cave-adapted fish distributed across a vast karst region in northeastern Mexico. These populations have a complex evolutionary history, having descended from ‘old' and ‘young' ancestral surface-dwelling stocks that invaded the region ∼6.7 and ∼2.8 MYa, respectively. This study investigates a set of captive, pigmented Astyanax cavefish collected from the Micos cave locality in 1970, in which albinism appeared over the past two decades. We combined novel coloration analyses, coding sequence comparisons and mRNA expression level studies to investigate the origin of albinism in captive-bred Micos cavefish. We discovered that albino Micos cavefish harbor two copies of a loss-of-function ocular and cutaneous albinism type II (Oca2) allele previously identified in the geographically distant Pachón cave population. This result suggests that phylogenetically young Micos cavefish and phylogenetically old Pachón cave fish inherited this Oca2 allele from the ancestral surface-dwelling taxon. This likely resulted from the presence of the loss-of-function Oca2 haplotype in the ‘young' ancestral surface-dwelling stock that colonized the Micos cave and also introgressed into the ancient Pachón cave population. The appearance of albinism in captive Micos cavefish, caused by the same loss-of-function allele present in Pachón cavefish, implies that geographically and phylogenetically distinct cave populations can evolve the same troglomorphic phenotype from standing genetic variation present in the ancestral taxon. PMID:23572122

  5. The albinism of the feral Asinara white donkeys (Equus asinus) is determined by a missense mutation in a highly conserved position of the tyrosinase (TYR) gene deduced protein.

    Science.gov (United States)

    Utzeri, V J; Bertolini, F; Ribani, A; Schiavo, G; Dall'Olio, S; Fontanesi, L

    2016-02-01

    A feral donkey population (Equus asinus), living in the Asinara National Park (an island north-west of Sardinia, Italy), includes a unique white albino donkey subpopulation or colour morph that is a major attraction of this park. Disrupting mutations in the tyrosinase (TYR) gene are known to cause recessive albinisms in humans (oculocutaneous albinism Type 1; OCA1) and other species. In this study, we analysed the donkey TYR gene as a strong candidate to identify the causative mutation of the albinism of these donkeys. The TYR gene was sequenced from 13 donkeys (seven Asinara white albino and six coloured animals). Seven single nucleotide polymorphisms were identified. A missense mutation (c.604C>G; p.His202Asp) in a highly conserved amino acid position (even across kingdoms), which disrupts the first copper-binding site (CuA) of functional protein, was identified in the homozygous condition (G/G or D/D) in all Asinara white albino donkeys and in the albino son of a trio (the grey parents had genotype C/G or H/D), supporting the recessive mode of inheritance of this mutation. Genotyping 82 donkeys confirmed that Asinara albino donkeys had genotype G/G whereas all other coloured donkeys had genotype C/C or C/G. Across-population association between the c.604C>G genotypes and the albino coat colour was highly significant (P = 6.17E-18). The identification of the causative mutation of the albinism in the Asinara white donkeys might open new perspectives to study the dynamics of this putative deleterious allele in a feral population and to manage this interesting animal genetic resource. © 2015 Stichting International Foundation for Animal Genetics.

  6. A potential benefit of albinism in Astyanax cavefish: downregulation of the oca2 gene increases tyrosine and catecholamine levels as an alternative to melanin synthesis.

    Science.gov (United States)

    Bilandžija, Helena; Ma, Li; Parkhurst, Amy; Jeffery, William R

    2013-01-01

    Albinism, the loss of melanin pigmentation, has evolved in a diverse variety of cave animals but the responsible evolutionary mechanisms are unknown. In Astyanax mexicanus, which has a pigmented surface dwelling form (surface fish) and several albino cave-dwelling forms (cavefish), albinism is caused by loss of function mutations in the oca2 gene, which operates during the first step of the melanin synthesis pathway. In addition to albinism, cavefish have evolved differences in behavior, including feeding and sleep, which are under the control of the catecholamine system. The catecholamine and melanin synthesis pathways diverge after beginning with the same substrate, L-tyrosine. Here we describe a novel relationship between the catecholamine and melanin synthesis pathways in Astyanax. Our results show significant increases in L-tyrosine, dopamine, and norepinephrine in pre-feeding larvae and adult brains of Pachón cavefish relative to surface fish. In addition, norepinephrine is elevated in cavefish adult kidneys, which contain the teleost homologs of catecholamine synthesizing adrenal cells. We further show that the oca2 gene is expressed during surface fish development but is downregulated in cavefish embryos. A key finding is that knockdown of oca2 expression in surface fish embryos delays the development of pigmented melanophores and simultaneously increases L-tyrosine and dopamine. We conclude that a potential evolutionary benefit of albinism in Astyanax cavefish may be to provide surplus L-tyrosine as a precursor for the elevated catecholamine synthesis pathway, which could be important for adaptation to the challenging cave environment.

  7. A potential benefit of albinism in Astyanax cavefish: downregulation of the oca2 gene increases tyrosine and catecholamine levels as an alternative to melanin synthesis.

    Directory of Open Access Journals (Sweden)

    Helena Bilandžija

    Full Text Available Albinism, the loss of melanin pigmentation, has evolved in a diverse variety of cave animals but the responsible evolutionary mechanisms are unknown. In Astyanax mexicanus, which has a pigmented surface dwelling form (surface fish and several albino cave-dwelling forms (cavefish, albinism is caused by loss of function mutations in the oca2 gene, which operates during the first step of the melanin synthesis pathway. In addition to albinism, cavefish have evolved differences in behavior, including feeding and sleep, which are under the control of the catecholamine system. The catecholamine and melanin synthesis pathways diverge after beginning with the same substrate, L-tyrosine. Here we describe a novel relationship between the catecholamine and melanin synthesis pathways in Astyanax. Our results show significant increases in L-tyrosine, dopamine, and norepinephrine in pre-feeding larvae and adult brains of Pachón cavefish relative to surface fish. In addition, norepinephrine is elevated in cavefish adult kidneys, which contain the teleost homologs of catecholamine synthesizing adrenal cells. We further show that the oca2 gene is expressed during surface fish development but is downregulated in cavefish embryos. A key finding is that knockdown of oca2 expression in surface fish embryos delays the development of pigmented melanophores and simultaneously increases L-tyrosine and dopamine. We conclude that a potential evolutionary benefit of albinism in Astyanax cavefish may be to provide surplus L-tyrosine as a precursor for the elevated catecholamine synthesis pathway, which could be important for adaptation to the challenging cave environment.

  8. Albinism in phylogenetically and geographically distinct populations of Astyanax cavefish arises through the same loss-of-function Oca2 allele.

    Science.gov (United States)

    Gross, J B; Wilkens, H

    2013-08-01

    The Mexican tetra, Astyanax mexicanus, comprises 29 populations of cave-adapted fish distributed across a vast karst region in northeastern Mexico. These populations have a complex evolutionary history, having descended from 'old' and 'young' ancestral surface-dwelling stocks that invaded the region ∼6.7 and ∼2.8 MYa, respectively. This study investigates a set of captive, pigmented Astyanax cavefish collected from the Micos cave locality in 1970, in which albinism appeared over the past two decades. We combined novel coloration analyses, coding sequence comparisons and mRNA expression level studies to investigate the origin of albinism in captive-bred Micos cavefish. We discovered that albino Micos cavefish harbor two copies of a loss-of-function ocular and cutaneous albinism type II (Oca2) allele previously identified in the geographically distant Pachón cave population. This result suggests that phylogenetically young Micos cavefish and phylogenetically old Pachón cave fish inherited this Oca2 allele from the ancestral surface-dwelling taxon. This likely resulted from the presence of the loss-of-function Oca2 haplotype in the 'young' ancestral surface-dwelling stock that colonized the Micos cave and also introgressed into the ancient Pachón cave population. The appearance of albinism in captive Micos cavefish, caused by the same loss-of-function allele present in Pachón cavefish, implies that geographically and phylogenetically distinct cave populations can evolve the same troglomorphic phenotype from standing genetic variation present in the ancestral taxon.

  9. Squamous cell carcinoma of external auditory canal lacking epidermal growth factor receptor protein overexpression, in an elderly Omani with oculocutaneous albinism treated with palliative radiotherapy

    OpenAIRE

    Furrukh, Muhammad; Mufti, Taha; Hamid, Rana Shoaib; Qureshi, Asim

    2014-01-01

    We report a case of squamous cell carcinoma of external auditory canal in an Omani man with oculocutaneous albinism. The disease mimicked inflammatory process revealing positive cultures for various microorganisms during the course of his illness. He was eventually biopsied to rule out atypical infective process or presence of malignancy. He was staged as T4N0M0 and treated with radical doses of palliative radiation therapy which was very well tolerated and resulted in a complete resolution o...

  10. Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients.

    Science.gov (United States)

    Zhang, Kai-hui; Li, Zhuo; Lei, Jie; Pang, Ting; Xu, Bei; Jiang, Wei-ying; Li, Hong-yi

    2011-12-01

    Oculocutaneous albinism (OCA) is a genetic disease characterized by the reduction or deficiency of melanin in eyes, skin, and hair. OCA exhibits genetic heterogeneity. Presently, there are four types of OCA named as OCA1, OCA2, OCA3, and OCA4. OCA3 is more common in African born blacks but rarely found in other ethnic populations. Our recent genotyping of patients with OCA of Chinese descent has identified two patients who were not OCA1, OCA2, or OCA4. Examination and analysis of the TYRP1 gene identified them to be having OCA3. PCR and DNA sequencing analysis found that the mutant TYPR1 alleles were present in each of the two patients, c.780-791del/c.1067G>A (p.R356Q) and c.625G>TT (p.G209LfsX1)/c.643C>T (p.H215Y). The c.780-791del and c.1067G>A mutations have been already reported. However, the c.625G>TT and c.643C>T mutations have not been previously reported and were found to be maternal and paternal mutations, respectively. Moreover, population screening and bioinformatic analysis were carried out to determine the effects of these two mutations which revealed that both the mutation were pathogenic. Based on the similar mild phenotype of these two patients, we suggest that OCA3 might be prevalent within the Chinese population.

  11. A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.

    Science.gov (United States)

    Lin, Yu-Ying; Wei, Ai-Hua; He, Xin; Zhou, Zhi-Yong; Lian, Shi; Zhu, Wei

    2014-01-01

    Oculocutaneous albinism (OCA) is a congenital genetic disorder characterized by defects in melanin production. OCA type 1 (OCA1) is the most serious and common type of OCA. This study characterized mutations associated with OCA1 in a series of Chinese patients. We recruited 41 unrelated patients with OCA and 100 healthy subjects from the Chinese Han population. Genomic DNA was extracted from their blood samples. Mutational analysis of tyrosinase (TYR) genes was conducted using polymerase chain reaction (PCR) and direct sequencing, specifically to test the 100 control subjects and exclude the possibility of polymorphism. Mutational analysis and bioinformatics study were performed in TYR mutations. Among the 24 (58.5%) patients with OCA1, 21 different TYR mutations were identified, including three previously unidentified alleles (PUAs): one frameshift mutation (c.216delA) and two missense mutations (A241T and N364K). The proband mutation A241T carries three possible mutations in complex OCA. The findings of this study expand current knowledge and data of mutations associated with OCA1 in China and allow us to estimate or explore the mutation spectrum and relative frequencies of the TYR gene in the Chinese population.

  12. A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China.

    Science.gov (United States)

    Lin, Yu-Ying; Wei, Ai-Hua; Zhou, Zhi-Yong; Zhu, Wei; He, Xin; Lian, Shi

    2011-10-01

    The mutation of the tyrosinase (TYR) gene results in oculocutaneous albinism type 1 (OCA1), an autosomal recessive genetic disorder. OCA1 is the most common type of OCA in the Chinese population. Hence, the TYR gene was tested in this study. We also delineated the genetic analysis of OCA1 in a Chinese family. Genomic DNA was isolated from the blood leukocytes of a proband and his family. Mutational analysis at the TYR locus by DNA sequencing was used to screen five exons, including the intron/exon junctions. A pedigree chart was drawn and the fundus of the eyes of the proband was also examined. A novel missense mutation p.I151S on exon 1, and homozygous TYR mutant alleles were identified in the proband. None of the mutants was identified among the 100 normal control subjects. Genetic analysis of the proband's wife showed normal alleles in the TYR gene. Thus, the fetus was predicated a carrier of OCA1 with a normal appearance. This study provided new information about a novel mutation, p.I151S, in the TYR gene in a Chinese family with OCA1. Further investigation of the proband would be helpful to determine the effects of this mutation on TYR activity.

  13. Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa

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    P. T. Lekalakala

    2015-01-01

    Full Text Available Oculocutaneous albinism which is characterised by impaired melanin biosynthesis is the most common inherited pigmentary disorder of the skin and it is common among Blacks in sub-Saharan Africa. All albinos are at great risk of developing squamous cell carcinoma of sun-exposed skin, and Black albinos in sub-Saharan Africa are at about a 1000-fold higher risk of developing squamous cell carcinoma of the skin than the general population. In Black albinos, skin carcinoma tends to run an aggressive course and is likely to recur after treatment, very probably because the aetiology and predisposing factors have not changed. Prevention or reduction of occurrence of squamous cell carcinoma of the skin in Black albinos might be achieved through educating the population to increase awareness of the harmful effects of exposure to sunlight and at the same time making available effective screening programs for early detection of premalignant and malignant skin lesions in schools and communities and for early treatment.

  14. Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.

    Science.gov (United States)

    Lu, Qian; Yuan, Lamei; Xu, Hongbo; Huang, Xiangjun; Yang, Zhijian; Yi, Junhui; Ni, Bin; Chen, Yong; Deng, Hao

    2017-03-01

    Oculocutaneous albinism (OCA) is a group of heterogeneous and autosomal recessive disorders characterized by a reduction or complete loss of melanin biosynthesis in melanocytes. OCA type 1 (OCA1) is the most severe and common form of OCA, and is caused by mutations in the tyrosinase gene (TYR). The present study aimed to identify the genetic cause of OCA1 in a four‑generation consanguineous Chinese Han family. Complete physical examinations were performed and blood samples were collected from five members of the family and 100 unrelated healthy controls. Exome sequencing was conducted in the proband, followed by verification in other family members, using Sanger sequencing. Patients in the family presented with typical OCA1 features, including hypopigmentation of the skin and hair, and distinctive ocular changes. A homozygous missense variant, c.896G>A (p.R299H), in the TYR gene was identified in two patients, which co‑segregated with disease in the family. This variant was not present in the 100 healthy controls. These results expand the number of mutations identified to be responsible for OCA1 in the Chinese Han population, and may have implications for genetic counseling and clinical management of the disease.

  15. Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa

    Science.gov (United States)

    Lekalakala, P. T.; Khammissa, R. A. G.; Kramer, B.; Ayo-Yusuf, O. A.; Lemmer, J.; Feller, L.

    2015-01-01

    Oculocutaneous albinism which is characterised by impaired melanin biosynthesis is the most common inherited pigmentary disorder of the skin and it is common among Blacks in sub-Saharan Africa. All albinos are at great risk of developing squamous cell carcinoma of sun-exposed skin, and Black albinos in sub-Saharan Africa are at about a 1000-fold higher risk of developing squamous cell carcinoma of the skin than the general population. In Black albinos, skin carcinoma tends to run an aggressive course and is likely to recur after treatment, very probably because the aetiology and predisposing factors have not changed. Prevention or reduction of occurrence of squamous cell carcinoma of the skin in Black albinos might be achieved through educating the population to increase awareness of the harmful effects of exposure to sunlight and at the same time making available effective screening programs for early detection of premalignant and malignant skin lesions in schools and communities and for early treatment. PMID:26347819

  16. Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a Caucasian family.

    Science.gov (United States)

    De Summa, Simona; Guida, Michele; Tommasi, Stefania; Strippoli, Sabino; Pellegrini, Cristina; Fargnoli, Maria Concetta; Pilato, Brunella; Natalicchio, Iole; Guida, Gabriella; Pinto, Rosamaria

    2017-05-02

    Multiple primary melanoma (MPM) is a rare condition, whose genetic basis has not yet been clarified. Only 8-12% of MPM are due to germline mutations of CDKN2A. However, other genes (POT1, BRCA1/2, MC1R, MGMT) have been demonstrated to be involved in predisposition to this pathology.To our knowledge, this is the first family study based on two siblings with the rare coexistence of MPM and oculocutaneous albinism (OCA), an autosomal recessive disease characterized by the absence or decrease in pigmentation in the skin, hair, and eyes.In this study, we evaluated genes involved in melanoma predisposition (CDKN2A, CDK4, MC1R, MITF, POT1, RB1, MGMT, BRCA1, BRCA2), pathogenesis (BRAF, NRAS, PIK3CA, KIT, PTEN), skin/hair pigmentation (MC1R, MITF) and in immune pathways (CTLA4) to individuate alterations able to explain the rare onset of MPM and OCA in indexes and the transmission in their pedigree.From the analysis of the pedigree, we were able to identify a "protective" haplotype with respect to MPM, including MGMT p.I174V alteration. The second generation offspring is under strict follow up as some of them have a higher risk of developing MPM according to our model.

  17. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.

    Science.gov (United States)

    Rinchik, E M; Bultman, S J; Horsthemke, B; Lee, S T; Strunk, K M; Spritz, R A; Avidano, K M; Jong, M T; Nicholls, R D

    1993-01-07

    The mouse pink-eyed dilution (p) locus on chromosome 7 is associated with defects of skin, eye and coat pigmentation. Mutations at p cause a reduction of eumelanin (black-brown) pigment and altered morphology of black pigment granules (eumelanosomes), but have little effect on pheomelanin (yellow-red) pigment. We show here that the human complementary DNA DN10, linked to the p locus in mice, identifies the human homologue (P) of the mouse p gene, and appears to encode an integral membrane transporter protein. The expression pattern of this gene in various p mutant mice correlates with the pigmentation phenotype; moreover, an abnormally sized messenger RNA is detected in one mutant, p(un), which reverts to the normal size in p(un) revertants. The human P gene corresponds to the D15S12 locus within the chromosome segment 15q11-q13, which is typically deleted in patients with Prader-Willi and Angelman syndrome (see ref. 5 for review). These disorders are phenotypically distinct, depending on the parent of origin of the deleted chromosome, but both syndromes are often associated with hypopigmentation of the skin, hair and eyes (see ref. 8 for review), and deletion of the P gene may be responsible for this hypopigmentation. In addition, we report a mutation in both copies of the human P gene in one case of tyrosinase-positive (type II) oculocutaneous albinism, recently linked to 15q11-q13 (ref. 9).

  18. Tyrosinase-positive oculocutaneous albinism in Southern African blacks: P gene-associated haplotypes suggest a major mutation in the 5{prime} region of the gene

    Energy Technology Data Exchange (ETDEWEB)

    Ramsay, M.; Stevens, G.; Beukering, J. van [Univ. of the Witwatersrand, Johannesburg (South Africa)] [and others

    1994-09-01

    Tyrosinase-positive oculocutaneous albinism (ty-pos OCA) occurs with a prevalence of 1 in 3900 among Southern African (SA) blacks. The major contributors to morbidity and mortality are skin cancer and decreased visual acuity. Two distinct phenotypes occur, namely individuals with ephelides (darkly pigmented patches) and those without. There is complete concordance with regard to ephelus status among siblings. The disorder is linked to markers on chromosome 15q11.2-q12, and no obligatory cross-overs were observed with polymophic markers at the human homolog, P, of the mouse pink eyed dilute gene, p. Contrary to what has been shown for Caucasoid ty-pos OCA, this condition shows locus homogeneity among SA blacks. The P gene is an excellent candidate for ty-pos OCA and mutations in this gene will confirm its role in causing the common form of albinism in SA. Numerous P gene mutations have been described in other populations. In an attempt to detect mutations, the P gene cDNA was used to search for structural rearrangements or polymorphisms. Six polymorphisms (plR10/Scal, 912/Xbal, 912/HincII, 912/TaqI, 1412/TaqI [two systems] and 1412/HindIII) were detected with subclones of the P cDNA and haplotypes were determined in each family. None were clearly associated with an albinism-related rearrangement. However, strong linkage disequilibrium was observed with alleles at loci toward the 5{prime} region of the gene ({triangle}=0.65, 0.57 and 0.80 for the three polymorphisms detected with the 912 subclone), suggesting a major ty-pos OCA mutation in this region. Haplotype analysis provides evidence for a major mutation associated with the same haplotype in individuals with ephelides (8/12 OCA chromosomes) and those without ephelides (24:30). The presence of other ty-pos OCA associated haplotypes indicates several other less common mutations.

  19. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: A new subtype of albinism classified as {open_quotes}OCA3{close_quotes}

    Energy Technology Data Exchange (ETDEWEB)

    Boissy, R.E.; Zhao, H.; Austin, L.M.; Boissy, Y.L.; Zhao, Y. [Univ. of Cincinnati College of Medicine, OH (United States)] [and others

    1996-06-01

    Most types of human oculocutaneous albinism (OCA) result from mutations in the gene for tyrosinase (OCA1) or the P protein (OCA2), although other types of OCA have been described but have not been mapped to specific loci. Melanocytes were cultured from an African-American with OCA, who exhibited the phenotype of Brown OCA, and his normal fraternal twin. Melanocytes cultured from the patient with OCA and the normal twin appeared brown versus black, respectively. Melanocytes from both the patient with OCA and the normal twin demonstrated equal amounts of NP-40-soluble melanin; however, melanocytes from the patient with OCA contained only 7% of the amount of insoluble melanin found from the normal twin. Tyrosinase-related protein-1 (TRP-1) was not detected in the OCA melanocytes by use of various anti-TRP-1 probes. Furthermore, transcripts for TRP-1 were absent in cultured OCA melanocytes. The affected twin was homozygous for a single-bp deletion in exon 6, removing an A in codon 368 and leading to a premature stop at codon 384. Tyrosine hydroxylase activity of the OCA melanocytes was comparable to controls when assayed in cell lysates but was only 30% of controls when assayed in intact cells. We conclude that this mutation of the human TRP-1 gene affects its interaction with tyrosinase, resulting in dysregulation of tyrosinase activity, promotes the synthesis of brown versus black melanin, and is responsible for a third genetic type of OCA in humans, which we classify as {open_quotes}OCA3.{close_quotes} 69 refs., 7 figs., 3 tabs.

  20. The albino chick as a model for studying ocular developmental anomalies, including refractive errors, associated with albinism.

    Science.gov (United States)

    Rymer, Jodi; Choh, Vivian; Bharadwaj, Shrikant; Padmanabhan, Varuna; Modilevsky, Laura; Jovanovich, Elizabeth; Yeh, Brenda; Zhang, Zhan; Guan, Huanxian; Payne, W; Wildsoet, Christine F

    2007-10-01

    Albinism is associated with a variety of ocular anomalies including refractive errors. The purpose of this study was to investigate the ocular development of an albino chick line. The ocular development of both albino and normally pigmented chicks was monitored using retinoscopy to measure refractive errors and high frequency A-scan ultrasonography to measure axial ocular dimensions. Functional tests included an optokinetic nystagmus paradigm to assess visual acuity, and flash ERGs to assess retinal function. The underlying genetic abnormality was characterized using a gene microarray, PCR and a tyrosinase assay. The ultrastructure of the retinal pigment epithelium (RPE) was examined using transmission electron microscopy. PCR confirmed that the genetic abnormality in this line is a deletion in exon 1 of the tyrosinase gene. Tyrosinase gene expression in isolated RPE cells was minimally detectable, and there was minimal enzyme activity in albino feather bulbs. The albino chicks had pink eyes and their eyes transilluminated, reflecting the lack of melanin in all ocular tissues. All three main components, anterior chamber, crystalline lens and vitreous chamber, showed axial expansion over time in both normal and albino animals, but the anterior chambers of albino chicks were consistently shallower than those of normal chicks, while in contrast, their vitreous chambers were longer. Albino chicks remained relatively myopic, with higher astigmatism than the normally pigmented chicks, even though both groups underwent developmental emmetropization. Albino chicks had reduced visual acuity yet the ERG a- and b-wave components had larger amplitudes and shorter than normal implicit times. Developmental emmetropization occurs in the albino chick but is impaired, likely because of functional abnormalities in the RPE and/or retina as well as optical factors. In very young chicks the underlying genetic mutation may also contribute to refractive error and eye shape abnormalities.

  1. Blood serum retinol levels in Asinara white donkeys reflect albinism-induced metabolic adaptation to photoperiod at Mediterranean latitudes.

    Science.gov (United States)

    Cappai, Maria Grazia; Lunesu, Maria Grazia Antonietta; Accioni, Francesca; Liscia, Massimo; Pusceddu, Mauro; Burrai, Lucia; Nieddu, Maria; Dimauro, Corrado; Boatto, Gianpiero; Pinna, Walter

    2017-01-01

    Previous works on albinism form of Asinara white donkeys ( Equus asinus ) identified the mutation leading to the peculiar phenotype spread to all specimens of the breed. Inbreeding naturally occurred under geographic isolation, on Asinara Island, in the Mediterranean Sea. Albino individuals can be more susceptible to develop health problems when exposed to natural sun radiation. Alternative metabolic pathways involved in photoprotection were explored in this trial. Nutrition-related metabolites are believed to contribute to the conservation of Asinara donkeys, in which melanin, guaranteeing photoprotection, is lacking. Biochemical profiles with particular focus on blood serum β-carotene and retinol levels were monitored. Identical natural grazing conditions for both Asinara (albino) and Sardo (pigmented) donkey breeds were assured on same natural pastures throughout the experimental period. A comparative metabolic screening, with emphasis on circulating retinol and nutrient-related metabolites between the two breeds, was carried out over one year. Potential intra- and interspecimen fluctuations of metabolites involved in photoprotection were monitored, both during negative and positive photoperiods. Differences ( p  =   .064) between blood serum concentrations of retinol from Asinara versus Sardo breed donkeys (0.630 vs . 0.490 μg/ml, respectively) were found. Retinol levels of blood serum turned out to be similar in the two groups (0.523 vs . 0.493 μg/ml, respectively, p  =   .051) during the negative photoperiod, but markedly differed during the positive one (0.738 vs. 0.486, respectively, p  =   .016). Blood serum β-carotene levels displayed to be constantly around the limit of sensitivity in all animals of both breeds. Variations in blood serum concentrations of retinol in Asinara white donkeys can reflect the need to cope with seasonal exposure to daylight at Mediterranean latitudes, as an alternative to the lack of melanin. These results may

  2. A frequent tyrosinase gene mutation associated with type I-A (tyroinase-negative) oculocutaneous albinism in Puerto Rico

    Energy Technology Data Exchange (ETDEWEB)

    Oetting, W.S.; Witkop, C.J. Jr.; Brown, S.A.; Fryer, J.P.; Bloom, K.E.; King, R.A. (Univ. of Minnesota, Minneapolis (United States)); Colomer, R. (Servicio Medico de Empressa de la ONCE, Canary Islands (Spain))

    1993-01-01

    The authors have determined the mutations in the tyrosinase gene from 12 unrelated Puerto Rican individuals who have type I-A (tyrosinase-negative) oculocutaneous albinism (OCA). All but one individual are of Hispanic descent. Nine individuals were homozygous for a missense mutation (G47D) in exon I at codon 47. Two individuals were heterozygous for the G47D mutation, with one having a missense mutation at codon 373 (T373K) in the homologous allele and the other having an undetermined mutation in the homologous allele. One individual with negroid features was homozygous for a nonsense mutation (W236X). The population migration between Puerto Rico and the Canary Islands is well recognized. Analysis of three individuals with OCA from the Canary Islands showed that one was a compound heterozygote for the G47D mutation and for a novel missense mutation (L216M), one was homozygous for a missense mutation (P81L), and one was heterozygous for the missense mutation P81L. The G47D and P81L missense mutations have been previously described in extended families in the United States. Haplotypes were determined using four polymorphisms linked to the tyrosinase locus. Haplotype analysis showed that the G47D mutation occurred on a single haplotype, consistent with a common founder for all individuals having this mutation. Two different haplotypes were found associated with the P81L mutation, suggesting that this may be either a recurring mutation for the tyrosinase gene or a recombination between haplotypes. 28 refs., 1 fig., 3 tabs.

  3. Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype

    Directory of Open Access Journals (Sweden)

    James C. Hart

    2017-09-01

    Full Text Available Here, we present and characterize the spontaneous X-linked recessive mutation casper, which causes oculocutaneous albinism in threespine sticklebacks (Gasterosteus aculeatus. In humans, Hermansky-Pudlak syndrome results in pigmentation defects due to disrupted formation of the melanin-containing lysosomal-related organelle (LRO, the melanosome. casper mutants display not only reduced pigmentation of melanosomes in melanophores, but also reductions in the iridescent silver color from iridophores, while the yellow pigmentation from xanthophores appears unaffected. We mapped casper using high-throughput sequencing of genomic DNA from bulked casper mutants to a region of the stickleback X chromosome (chromosome 19 near the stickleback ortholog of Hermansky-Pudlak syndrome 5 (Hps5. casper mutants have an insertion of a single nucleotide in the sixth exon of Hps5, predicted to generate an early frameshift. Genome editing using CRISPR/Cas9 induced lesions in Hps5 and phenocopied the casper mutation. Injecting single or paired Hps5 guide RNAs revealed higher incidences of genomic deletions from paired guide RNAs compared to single gRNAs. Stickleback Hps5 provides a genetic system where a hemizygous locus in XY males and a diploid locus in XX females can be used to generate an easily scored visible phenotype, facilitating quantitative studies of different genome editing approaches. Lastly, we show the ability to better visualize patterns of fluorescent transgenic reporters in Hps5 mutant fish. Thus, Hps5 mutations present an opportunity to study pigmented LROs in the emerging stickleback model system, as well as a tool to aid in assaying genome editing and visualizing enhancer activity in transgenic fish.

  4. Prevalence and profile of ophthalmic disorders in oculocutaneous albinism: a field report from South-Eastern Nigeria.

    Science.gov (United States)

    Udeh, N N; Eze, B I; Onwubiko, S N; Arinze, O C; Onwasigwe, E N; Umeh, R E

    2014-12-01

    To assess the burden and spectrum of refractive and non-refractive ophthalmic disorders in south-eastern Nigerians with oculocutaneous albinism. In a population-based survey in Enugu state, between August, 2011 and January, 2012, albinos were identified using the database of the Enugu state's Albino Foundation, and mass media-based mobilisation. The participants were enrolled at the Eye Clinics of the University of Nigeria Teaching Hospital and Enugu State University of Science and Technology Teaching Hospital using a defined protocol. Relevant socio-demographic and clinical data were obtained from each participant. Descriptive and comparative statistics were performed. Statistical significance was indicated by p < 0.05. The participants (n = 153; males, 70) were aged 23.5 + 10.4 SD years (range 6-60 years). Both refractive and non-refractive disorders were present in all participants. Non-refractive disorders comprised nystagmus, foveal hypoplasia, hypopigmented fundi and prominent choroidal vessels in 100.0% participants; and strabismus in 16.3% participants. Refractive disorders comprised astigmatism -73.2% eyes, myopia -23.9% and hypermetropia 2.9%. Spherical refractive errors ranged from -14.00 DS to +8.00 DS while astigmatic errors ranged from -6.00 DC to +6 DC. Mixed refractive and non-refractive disorder i.e. presenting visual impairment was present in 100.0% participants. Overall, refractive error was associated with non-possession of tertiary education (OR 0.61; 95% CI 0.38-0.96; p = 0.0374). There is high prevalence of refractive, non-refractive and mixed ophthalmic disorders among albinos in south-eastern Nigeria. This underscores the need for tailored provision of resources to address their eye care needs, and creation of needs awareness amongst them.

  5. Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism.

    Science.gov (United States)

    De Filippo, Elisabetta; Manga, Prashiela; Schiedel, Anke C

    2017-06-01

    GPR143 regulates melanosome biogenesis and organelle size in pigment cells. The mechanisms underlying receptor function remain unclear. G protein-coupled receptors (GPCRs) are excellent pharmacologic targets; thus, we developed and applied a screening approach to identify potential GPR143 ligands and chemical modulators. GPR143 interacts with β-arrestin; we therefore established a β-arrestin recruitment assay to screen for compounds that modulate activity. Because GPR143 is localized intracellularly, screening with the wild-type receptor would be restricted to agents absorbed by the cell. For the screen we used a mutant receptor, which shows similar basal activity as the wild type but traffics to the plasma membrane. We tested two compound libraries and investigated validated hits for their effects on melanocyte pigmentation. GPR143, which showed high constitutive activity in the β-arrestin assay, was inhibited by several compounds. The three validated inhibitors (pimozide, niclosamide, and ethacridine lactate) were assessed for impact on melanocytes. Pigmentation and expression of tyrosinase, a key melanogenic enzyme, were reduced by all compounds. Because GPR143 appears to be constitutively active, these compounds may turn off its activity. X-linked ocular albinism type I, characterized by developmental eye defects, results from GPR143 mutations. Identifying pharmacologic agents that modulate GPR143 activity will contribute significantly to our understanding of its function and provide novel tools with which to study GPCRs in melanocytes and retinal pigment epithelium. Pimozide, one of three GPR143 inhibitors identified in this study, maybe be a good lead structure for development of more potent compounds and provide a platform for design of novel therapeutic agents.

  6. Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.

    Science.gov (United States)

    Straniero, Letizia; Rimoldi, Valeria; Soldà, Giulia; Mauri, Lucia; Manfredini, Emanuela; Andreucci, Elena; Bargiacchi, Sara; Penco, Silvana; Gesu, Giovanni P; Del Longo, Alessandra; Piozzi, Elena; Asselta, Rosanna; Primignani, Paola

    2015-09-01

    Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. OCA type IV (OCA4) is one of the four commonly recognized forms of albinism, and is determined by mutation in the SLC45A2 gene. Here, we investigated the genetic basis of OCA4 in an Italian child. The mutational screening of the SLC45A2 gene identified two novel potentially pathogenic splicing mutations: a synonymous transition (c.888G>A) involving the last nucleotide of exon 3 and a single-nucleotide insertion (c.1156+2dupT) within the consensus sequence of the donor splice site of intron 5. As computer-assisted analysis for mutant splice-site prediction was not conclusive, we investigated the effects on pre-mRNA splicing of these two variants by using an in vitro minigene approach. Production of mutant transcripts in HeLa cells demonstrated that both mutations cause the almost complete abolishment of the physiologic donor splice site, with the concomitant unmasking of cryptic donor splice sites. To our knowledge, this work represents the first in-depth molecular characterization of splicing defects in a OCA4 patient.

  7. Homozygosity Mapping and Whole Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

    Science.gov (United States)

    Cullinane, Andrew R.; Vilboux, Thierry; O’Brien, Kevin; Curry, James A.; Maynard, Dawn M.; Carlson-Donohoe, Hannah; Ciccone, Carla; Markello, Thomas C.; Gunay-Aygun, Meral; Huizing, Marjan; Gahl, William A.

    2011-01-01

    We evaluated a 32 year-old woman whose oculocutaneous albinism, bleeding diathesis, neutropenia, and history of recurrent infections prompted consideration of the diagnosis of Hermansky-Pudlak syndrome type 2 (HPS-2). This was ruled out due to the presence of platelet delta granules and absence of AP3B1 mutations. Since parental consanguinity suggested an autosomal recessive mode of inheritance, we employed homozygosity mapping, followed by whole exome sequencing, to identify two candidate disease-causing genes, SLC45A2 and G6PC3. Conventional di-deoxy sequencing confirmed pathogenic mutations in SLC45A2, associated with oculocutaneous albinism type 4 (OCA-4), and G6PC3, associated with neutropenia. The substantial reduction of SLC45A2 protein in the patient’s melanocytes caused the mis-localization of tyrosinase from melanosomes to the plasma membrane and also led to the incorporation of tyrosinase into exosomes and secretion into the culture medium, explaining the hypopigmentation in OCA-4. Our patient’s G6PC3 mRNA expression level was also reduced, leading to increased apoptosis of her fibroblasts under ER stress. This report describes the first North American patient with OCA-4, the first culture of human OCA-4 melanocytes, and the use of homozygosity mapping followed by whole exome sequencing to identify disease-causing mutations in multiple genes in a single affected individual. PMID:21677667

  8. Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.

    Science.gov (United States)

    Shah, S A; Din, S U; Raheem, N; Daud, S; Mubeen, J; Nadeem, A; Tayyab, M; Baloch, D M; Babar, M E; Ahmad, J

    2014-07-01

    The TYR gene (MIM #6069333) is located at position 11q14.3 on the human chromosome, and encodes tyrosinase, which is expressed in melanocytes and controls the biosynthesis of melanin. Most TYR mutations eliminate the activity of tyrosinase, preventing melanocytes from producing any melanin throughout life. People with this form of albinism have white hair, light-coloured eyes and very pale skin. Some mutations in TYR reduce but do not completely eliminate tyrosinase activity, and allow some melanin to be produced. We report a Pakistani family with four members affected by oculocutaneous albinism (OCA). Blood samples were collected from all affected individuals, normal siblings and their parents. Genomic DNA was extracted, and sequence analysis of all the coding exons and adjacent intronic sequences of TYR was performed, which identified a novel missense substitution (p.Ile198Thr). Sequencing of TYR in 90 unrelated healthy individuals showed no sequence variant at this location. Our study expands the mutational spectrum of OCA1. © 2014 British Association of Dermatologists.

  9. Genetic Testing for Oculocutaneous Albinism Type 1 and 2 and Hermansky–Pudlak Syndrome Type 1 and 3 Mutations in Puerto Rico

    Science.gov (United States)

    Santiago Borrero, Pedro J.; Rodríguez-Pérez, Yolanda; Renta, Jessicca Y.; Izquierdo, Natalio J.; del Fierro, Laura; Muñoz, Daniel; Molina, Norma López; Ramírez, Sonia; Pagán-Mercado, Glorivee; Ortíz, Idith; Rivera-Caragol, Enid; Spritz, Richard A.; Cadilla, Carmen L.

    2013-01-01

    Hermansky–Pudlak syndrome (HPS) (MIM #203300) is a heterogeneous group of autosomal recessive disorders characterized by oculocutaneous albinism (OCA), bleeding tendency, and lysosomal dysfunction. HPS is very common in Puerto Rico (PR), particularly in the northwest part of the island, with a frequency of ~1:1,800. Two HPS genes and mutations have been identified in PR, a 16-base pair (bp) duplication in HPS1 and a 3,904-bp deletion in HPS3. In Puerto Ricans with more typical OCA, the most common mutation of the tyrosinase (TYR) (human tyrosinase (OCA1) gene) gene was G47D. We describe screening 229 Puerto Rican OCA patients for these mutations, and for mutations in the OCA2 gene. We found the HPS1 mutation in 42.8% of cases, the HPS3 deletion in 17%, the TYR G47D mutation in 3.0%, and a 2.4-kb deletion of the OCA2 gene in 1.3%. Among Puerto Rican newborns, the frequency of the HPS1 mutation is highest in northwest PR (1:21; 4.8%) and lower in central PR (1:64; 1.6%). The HPS3 gene deletion is most frequent in central PR (1:32; 3.1%). Our findings provide insights into the genetics of albinism and HPS in PR, and provide the basis for genetic screening for these disorders in this minority population. PMID:16417222

  10. Vitamin D levels in patients with albinism compared with those in normally pigmented Black patients attending dermatology clinics in the Free State province, South Africa.

    Science.gov (United States)

    Van der Walt, Johanna E C; Sinclair, Werner

    2016-09-01

    Associations between vitamin D deficiency and a broad variety of independent diseases, including several bone diseases, various types of cancer, autoimmune diseases, hypertension, and cardiovascular disease, have been suggested. It is therefore important to detect and treat vitamin D deficiency in high-risk groups. Because patients with albinism (PWA) practice a policy of strict sun avoidance, they may be at risk for low levels of vitamin D. This study was conducted in patients attending dermatology clinics in the Free State, South Africa, to determine sun avoidance behavior in the patient population and to compare 25-hydroxyvitamin D (25[OH]D) levels in PWA with those in normally pigmented Black patients attending the same clinics. Serum 25(OH)D levels were assessed in 50 PWA and 50 normally pigmented Black control subjects. Questionnaires on sun exposure avoidance behaviors were administered to all participants. The present study showed no statistically significant difference in median 25(OH)D levels between PWA and controls with normally pigmented Black skin. Rather, the study found a tendency for controls to have lower 25(OH)D levels. A total of 53% (n = 53) of all study participants (PWA and controls) had a 25(OH)D level of albinism attending dermatology clinics in the Free State, South Africa, need not be viewed as specifically at risk for low vitamin D levels. © 2015 The International Society of Dermatology.

  11. SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.

    Science.gov (United States)

    Mauri, Lucia; Barone, Luca; Al Oum, Muna; Del Longo, Alessandra; Piozzi, Elena; Manfredini, Emanuela; Stanzial, Franco; Benedicenti, Francesco; Penco, Silvana; Patrosso, Maria Cristina

    2014-01-01

    Oculocutaneous Albinism (OCA) is a heterogeneous group of inherited diseases involving hair, skin and eyes. To date, six forms are recognized on the effects of different melanogenesis genes. OCA4 is caused by mutations in SLC45A2 showing a heterogeneous phenotype ranging from white hair, blue irides and nystagmus to brown/black hair, brown irides and no nystagmus. The high clinic variety often leads to misdiagnosis. Our aim is to contribute to OCA4 diagnosis defining SLC45A2 genetic variants in Italian patients with OCA without any TYR, OCA2 and TYRP1 gene defects. After the clinical diagnosis of OCA, all patients received genetic counseling and genetic test. Automatic sequencing of TYR, OCA2, and TYRP1 genes was performed on DNA of 117 albino patients. Multiplex Ligation-dependent Probe Amplification (MLPA) was carried out on TYR and OCA2 genes to increase the mutation rate. SLC45A2 gene sequencing was then executed in the patients with a single mutation in one of the TYR, OCA2, TYRP1 genes and in the patients, which resulted negative at the screening of these genes. SLC45A2 gene analysis was performed in 41 patients and gene alterations were found in 5 patients. Four previously reported SLC45A2 mutations were found: p.G100S, p.W202C, p.A511E and c.986delC, and three novel variants were identified: p.M265L, p.H94D, and c.1156+1G>A. All the alterations have been detected in the group of patients without mutations in the other OCA genes. Three new variants were identified in OCA4 gene; the analysis allowed the classification of a patient previously misdiagnosed as OA1 because of skin and hair pigmentation presence. The molecular defects in SLC45A2 gene represent the 3.4% in this cohort of Italian patients, similar to other Caucasian populations; our data differ from those previously published by an Italian researcher group, obtained on a smaller cohort of patients. © 2013 Elsevier B.V. All rights reserved.

  12. Analysis of P gene mutations in patients with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)

    Energy Technology Data Exchange (ETDEWEB)

    Lee, S.T.; Nicholls, R.D.; Schnur, R. [Univ. of Wisconsin, Madison, WI (United States)]|[Case Western Reserve Univ., Cleveland, OH (United States)]|[Children`s Hospital of Philadelphia, PA (United States)] [and others

    1994-09-01

    OCA2 is an autosomal recessive disorder in which the biosynthesis of melanin pigment is greatly reduced in the skin, hair, and eyes. Recently, we showed that OCA2 results from mutations of the P gene, in chromosome segment 15q11-q13. In addition to OCA2, mutations of P account for OCA associated with the Prader-Willi syndrome and some cases of {open_quotes}autosomal recessive ocular albinism{close_quotes} (AROA). We have now studied 38 unrelated patients with various forms of OCA2 or AROA from a variety of different ethnic groups. None of these patients had detectable abnormalities of the tyrosinase (TYR) gene. Among 8 African-American patients with OCA2 we observed apparent locus homogeneity. We detected abnormalities of the P gene in all 8 patients, including 12 different mutations and deletions, most of which are unique to this group and none of which is predominant. In contrast, OCA2 in other populations appears to be genetically heterogeneous. Among 21 Caucasian patients we detected abnormalities of the P gene in only 8, comprising 9 different point mutations and deletions, some of which also occurred among the African-American patients. Among 3 Middle-Eastern, 3 Indo-Pakistani, and 3 Asian patients we detected mutations of the P gene in only one from each group. In a large Indo-Pakistani kindred with OCA2 we have excluded both the TYR and P genes on the basis of genetic linkage. The prevalence of mutations of the P gene thus appears to be much higher among African-Americans with OCA2 than among patients from other ethnic groups. The incidence of OCA2 in some parts of equatorial Africa is extremely high, as frequent as 1 per 1100, and the disease has been linked to P in South African Bantu. The eventual characterization of P gene mutations in Africans will be informative with regard to the origins of P gene mutations in African-American patients.

  13. Albinism and disease causing pathogens in Tanzania: are alleles that are associated with OCA2 being maintained by balancing selection?

    Science.gov (United States)

    Tuli, Abbas M; Valenzuela, Robert K; Kamugisha, Erasmus; Brilliant, Murray H

    2012-12-01

    Oculocutaneous albinism type 2 (OCA2) is present at significantly higher frequencies in sub-Saharan African populations compared to populations in other regions of the world. In Tanzania and other sub-Saharan countries, most OCA2 is associated with a common 2.7kb deletion allele. Leprosy is also in high prevalence in sub-Saharan African populations. The infectious agent of leprosy, Mycobacterium leprae, contains a gene, 38L, that is similar to OCA2. Hypopigmented patches of skin are early symptoms that present with infection of leprosy. In consideration of both the genetic similarity of OCA2 and the 38L gene of M. leprae and the involvement of pigmentation in both disorders, we hypothesized that the high rates of OCA2 may be due to heterozygote advantage. Hence, we hypothesized that carriers of the 2.7kb deletion allele of OCA2 may provide a protective advantage from infection with leprosy. We tested this hypothesis by determining the carrier frequency of the 2.7kb deletion allele from a sample of 240 individuals with leprosy from Tanzania. The results were inconclusive due to the small sample size; however, they enabled us to rule out a large protective effect, but perhaps not a small advantage. Mycobacterium tuberculosis is another infectious organism prevalent in sub-Saharan Africa that contains a gene, arsenic-transport integral membrane protein that is also similar to OCA2. Interestingly, chromosomal region 15q11-13, which also contains OCA2, was reported to be linked to tuberculosis susceptibility. Although variants within OCA2 were tested for association, the 2.7kb deletion allele of OCA2 was not tested. This led us to hypothesize that the deletion allele may confer resistance to susceptibility. Confirmation of our hypothesis would enable development of novel pharmocogenetic therapies for the treatment of tuberculosis, which in turn, may enable development of drugs that target other pathogens that utilize a similar infection mechanism as M. tuberculosis

  14. A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism

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    Chintamaneni, C.D.; Kobayashi, Y.; Kwon, B.S. (Indiana Univ. School of Medicine, Indianapolis (United States)); Halaban, R. (Yale Univ. School of Medicine, New Haven, CT (United States)); Witkop, C.J. Jr. (Univ. of Minnesota, Minneapolis (United States))

    1991-06-15

    The authors have determined a molecular defect to be the likely basis for inactivity of the tyrosinase from a patient with tyrosinase-negative oculocutaneous albinism. A single base (thymine) was inserted in exon 5 of the tyrosinase gene following codon 471 in the putative transmembrane coding region. This insertion caused a shift in the reading frame of 19 amino acids at the 3{prime} end and introduced a premature termination signal that would be expected to truncate the protein by 21 amino acids at the carboxyl terminus. The albino tyrosinase was not recognized by antibodies directed to the carboxyl terminus of tyrosinase. Furthermore, as shown by gel electrophoresis of the immunoprecipitated protein, the tyrosinase was {approx} 3kDa smaller than normal. Similar immunoprecipitation data were obtained when cloned normal and mutant tyrosinases were expressed in COS-1 cells.

  15. Failed Pneumatic Retinopexy for Rhegmatogenous Retinal Detachment Repair in Ocular Albinism: Clues to the Role of Melanin in Retinal Pigment Epithelium Pump Function.

    Science.gov (United States)

    Felfeli, Tina; Mandelcorn, Mark S; Yan, Peng; Jeffery, Glen; Mandelcorn, Efrem D

    2017-12-01

    The authors report the first case, to their knowledge, of failed pneumatic retinopexy (PR) for rhegmatogenous retinal detachment (RRD) repair in a patient with ocular albinism (OA). The failure of PR to spontaneously resolve the subretinal fluid and reattach the retina in this case is suggestive of a deficiency in subretinal fluid reabsorption by the retinal pigment epithelium (RPE). These findings suggest that in cases of RRD in OA, primary PR should be avoided since this procedure relies on an adequately functioning RPE pump to reabsorb subretinal fluid prior to laser retinopexy. The use of primary vitrectomy or scleral buckling with cryopexy may constitute a more effective strategy for RRD in OA. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:1016-1020.]. Copyright 2017, SLACK Incorporated.

  16. A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice.

    Science.gov (United States)

    Shoji, Haruka; Kiniwa, Yukiko; Okuyama, Ryuhei; Yang, Mu; Higuchi, Keiichi; Mori, Masayuki

    2015-01-01

    The original pink-eyed dilution (p) on chromosome 7 is a very old spontaneous mutation in mice. The oculocutaneous albinism II (Oca2) gene has previously been identified as the p gene. Oca2 transcripts have been shown to be absent in the skin of SJL/J mice with the original p mutant allele (Oca2(p)); however, the molecular genetic lesion underlying the original Oca2(p) allele has never been reported. The NCT mouse (commonly known as Nakano cataract mouse) has a pink-eyed dilution phenotype, which prompted us to undertake a molecular genetic analysis of the Oca2 gene of this strain. Our genetic linkage analysis suggests that the locus for the pink-eyed dilution phenotype of NCT is tightly linked to the Oca2 locus. PCR cloning and nucleotide sequence analysis indicates that the NCT mouse has a nonsense nucleotide substitution at exon 7 of the Oca2 gene. Examination of three mouse strains (NZW/NSlc, SJL/J, and 129X1/SvJJmsSlc) with the original Oca2(p) allele revealed the presence of a nonsense nucleotide substitution identical to that in the NCT strain. RT-PCR analysis revealed that the Oca2 transcripts were absent in the skin of NCT mice, suggesting intervention of the nonsense-mediated mRNA decay pathway. Collectively, the data in this study indicate that the nonsense nucleotide substitution in the Oca2 gene underlies the Oca2(p) allele. Our data also indicate that the NCT mouse can be used not only as a cataract model, but also as a model for human type II oculocutaneous albinism.

  17. Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism

    Science.gov (United States)

    Preising, Markus N.; Gonser, Miriam; Lorenz, Birgit

    2011-01-01

    Background A broad spectrum of pigmentation of the skin and hair is found among patients diagnosed with ocular albinism (OA) and oculocutaneous albinism (OCA). Even though complexion is variable, three ocular features, i.e., hypopigmentation of the fundus, hypoplasia of the macula, and nystagmus, are classical pathological findings in these patients. We screened 172 index patients with a clinical diagnosis of OA or OCA based on the classical findings, to evaluate the frequency of sequence variants in tyrosinase (TYR), P-gene, P-protein (OCA2), and the G-protein-coupled receptor 143 gene, OA1 (GPR143). In addition, we investigated the association of sequence variants in the melanocortin receptor 1 gene (MC1R) and OCA2. Methods Pigmentation of the hair, skin, iris, and fundus were included in the evaluation of OCA and OA. Male OA patients showing X-linked inheritance were screened for GPR143. Females showing OA without family history were regarded as representing autosomal recessive OA (OA3). Direct sequencing was applied to PCR products showing aberrant single-strand conformation polymorphism–banding patterns. Results Fifty-seven male index patients were screened for OA. We identified 16 potentially pathogenic sequence variations in GPR143 (10 novel) in 22 males. In TYR, we identified 23 (7 novel), and in OCA2 28 (11 novel) possibly pathogenic variants. Variants on both alleles were identified in TYR or OCA2 in 29/79 OCA patients and 14/71 OA patients. Sequence changes in TYR were identified almost exclusively in OCA patients, while sequence changes in OCA2 occurred in OCA and OA patients. MC1R sequencing was performed in 47 patients carrying mutations in OCA2 and revealed MC1R mutations in 42 of them. Conclusions TYR gene mutations have a more severe effect on pigmentation than mutations in OCA2 and the GPR143 gene. Nevertheless, mutations in these genes affect the development of visual function either directly or by interaction with other genes like MC1R, which

  18. Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.

    Science.gov (United States)

    Preising, Markus N; Forster, Hedwig; Gonser, Miriam; Lorenz, Birgit

    2011-04-15

    A broad spectrum of pigmentation of the skin and hair is found among patients diagnosed with ocular albinism (OA) and oculocutaneous albinism (OCA). Even though complexion is variable, three ocular features, i.e., hypopigmentation of the fundus, hypoplasia of the macula, and nystagmus, are classical pathological findings in these patients. We screened 172 index patients with a clinical diagnosis of OA or OCA based on the classical findings, to evaluate the frequency of sequence variants in tyrosinase (TYR), P-gene, P-protein (OCA2), and the G-protein-coupled receptor 143 gene, OA1 (GPR143). In addition, we investigated the association of sequence variants in the melanocortin receptor 1 gene (MC1R) and OCA2. Pigmentation of the hair, skin, iris, and fundus were included in the evaluation of OCA and OA. Male OA patients showing X-linked inheritance were screened for GPR143. Females showing OA without family history were regarded as representing autosomal recessive OA (OA3). Direct sequencing was applied to PCR products showing aberrant single-strand conformation polymorphism-banding patterns. Fifty-seven male index patients were screened for OA. We identified 16 potentially pathogenic sequence variations in GPR143 (10 novel) in 22 males. In TYR, we identified 23 (7 novel), and in OCA2 28 (11 novel) possibly pathogenic variants. Variants on both alleles were identified in TYR or OCA2 in 29/79 OCA patients and 14/71 OA patients. Sequence changes in TYR were identified almost exclusively in OCA patients, while sequence changes in OCA2 occurred in OCA and OA patients. MC1R sequencing was performed in 47 patients carrying mutations in OCA2 and revealed MC1R mutations in 42 of them. TYR gene mutations have a more severe effect on pigmentation than mutations in OCA2 and the GPR143 gene. Nevertheless, mutations in these genes affect the development of visual function either directly or by interaction with other genes like MC1R, which can be deduced from a frequent

  19. The integrated analysis of RNA-seq and microRNA-seq depicts miRNA-mRNA networks involved in Japanese flounder (Paralichthys olivaceus) albinism.

    Science.gov (United States)

    Wang, Na; Wang, Ruoqing; Wang, Renkai; Tian, Yongsheng; Shao, Changwei; Jia, Xiaodong; Chen, Songlin

    2017-01-01

    Albinism, a phenomenon characterized by pigmentation deficiency on the ocular side of Japanese flounder (Paralichthys olivaceus), has caused significant damage. Limited mRNA and microRNA (miRNA) information is available on fish pigmentation deficiency. In this study, a high-throughput sequencing strategy was employed to identify the mRNA and miRNAs involved in P. olivaceus albinism. Based on P. olivaceus genome, RNA-seq identified 21,787 know genes and 711 new genes by transcripts assembly. Of those, 235 genes exhibited significantly different expression pattern (fold change ≥2 or ≤0.5 and q-value≤0.05), including 194 down-regulated genes and 41 up-regulated genes in albino versus normally pigmented individuals. These genes were enriched to 81 GO terms and 9 KEGG pathways (p≤0.05). Among those, the pigmentation related pathways-Melanogenesis and tyrosine metabolism were contained. High-throughput miRNA sequencing identified a total of 475 miRNAs, including 64 novel miRNAs. Furthermore, 33 differentially expressed miRNAs containing 13 up-regulated and 20 down-regulated miRNAs were identified in albino versus normally pigmented individuals (fold change ≥1.5 or ≤0.67 and p≤0.05). The next target prediction discovered a variety of putative target genes, of which, 134 genes including Tyrosinase (TYR), Tyrosinase-related protein 1 (TYRP1), Microphthalmia-associated transcription factor (MITF) were overlapped with differentially expressed genes derived from RNA-seq. These target genes were significantly enriched to 254 GO terms and 103 KEGG pathways (p<0.001). Of those, tyrosine metabolism, lysosomes, phototransduction pathways, etc., attracted considerable attention due to their involvement in regulating skin pigmentation. Expression patterns of differentially expressed mRNA and miRNAs were validated in 10 mRNA and 10 miRNAs by qRT-PCR. With high-throughput mRNA and miRNA sequencing and analysis, a series of interested mRNA and miRNAs involved in fish

  20. Mutational Analysis on Membrane Associated Transporter Protein (MATP) and Their Structural Consequences in Oculocutaeous Albinism Type 4 (OCA4)-A Molecular Dynamics Approach.

    Science.gov (United States)

    Kamaraj, Balu; Purohit, Rituraj

    2016-11-01

    Oculocutaneous albinism type IV (OCA4) is an autosomal recessive inherited disorder which is characterized by reduced biosynthesis of melanin pigmentation in skin, hair, and eyes and caused by the genetic mutations in the membrane-associated transporter protein (MATP) encoded by SLC45A2 gene. The MATP protein consists of 530 amino acids which contains 12 putative transmembrane domains and plays an important role in pigmentation and probably functions as a membrane transporter in melanosomes. We scrutinized the most OCA4 disease-associated mutation and their structural consequences on SLC45A2 gene. To understand the atomic arrangement in 3D space, the native and mutant structures were modeled. Further the structural behavior of native and mutant MATP protein was investigated by molecular dynamics simulation (MDS) approach in explicit lipid and water background. We found Y317C as the most deleterious and disease-associated SNP on SLC45A2 gene. In MDS, mutations in MATP protein showed loss of stability and became more flexible, which alter its structural conformation and function. This phenomenon has indicated a significant role in inducing OCA4. Our study explored the understanding of molecular mechanism of MATP protein upon mutation at atomic level and further helps in the field of pharmacogenomics to develop a personalized medicine for OCA4 disorder. J. Cell. Biochem. 117: 2608-2619, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  1. Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report.

    Science.gov (United States)

    Rodríguez-Agramonte, Ferdinand; Izquierdo, Natalio J; Cadilla, Carmen

    2013-01-01

    Previous studies have suggested that the G47D mutation leads patients to develop Oculocutaneous albinism (OCA) type IA. This mutation has been described in the Canary Islands. Historically, there has been a migration from the Canary Islands to some regions of Puerto Rico. To report on the ocular findings of two Puerto Rican patients with OCA IA due to the G47D Tyrosinase gene mutation. PATIENT AND FINDINGS: Two unrelated patients with OCA underwent a comprehensive eye examination and were referred for genetic analysis. Patients had almost total iris transillumination, clear lenses, foveal hypoplasia with transparent maculae, and albinotic mid peripheries. Both patients had nystagmus, and only one patient had strabismus. Patients with the G47D muta- tion leading to OCA IA have poor visual acuities and poorly pigmented phenotypic ophthalmic findings. Further studies comparing ocular findings in patients th several mutations leading to OCA IA are warranted. To our knowledge this is the first report on ocular findings in Puerto Rican patients with OCA type IA with the rare G47D mutation.

  2. Squamous cell carcinoma of external auditory canal lacking epidermal growth factor receptor protein overexpression, in an elderly Omani with oculocutaneous albinism treated with palliative radiotherapy.

    Science.gov (United States)

    Furrukh, Muhammad; Mufti, Taha; Hamid, Rana Shoaib; Qureshi, Asim

    2014-06-06

    We report a case of squamous cell carcinoma of external auditory canal in an Omani man with oculocutaneous albinism. The disease mimicked inflammatory process revealing positive cultures for various microorganisms during the course of his illness. He was eventually biopsied to rule out atypical infective process or presence of malignancy. He was staged as T4N0M0 and treated with radical doses of palliative radiation therapy which was very well tolerated and resulted in a complete resolution of disease clinically and a major soft tissue response on radiological imaging. Another unique finding was the absence of epidermal growth factor receptor (EGFR) protein overexpression in the tumour specimen. More than 90% of mucosal squamous cell carcinoma (SCC) involving the head and neck region overexpress the EGFR protein in normal skin patients. SCC is the predominant cutaneous malignancy in albinos, and the presence of EGFR protein overexpression in cutaneous SCC is believed to be 56-58% in normal skin patients. The scientific literature is scarce on reporting incidence of EGFR overexpression in either cutaneous or mucosal SCC in albinos, and it remains to be defined whether being albino is the cause for its absence. 2014 BMJ Publishing Group Ltd.

  3. Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood. 1959;14(2):162-169.

    Science.gov (United States)

    2016-04-07

    This landmark article by Frantisek Hermansky and Paulus Pudlak, clinicians in Prague, Czechoslovakia, is the first to describe 2 unrelated individuals with what is now called Hermansky-Pudlak syndrome, a bleeding disorder that occurs in association with oculocutaneous albinism. The definition of this syndrome resulted not only in improved care of these patients but also in a functional and molecular understanding of the disease and the role of dense granule secretion in platelet function. Hermansky-Pudlak syndrome is now known to be related to defective dense granule biogenesis due to mutations in any of ≥9 different genes.

  4. Two skin cell lines from wild-type and albino Japanese flounder (Paralichthys olivaceus): establishment, characterization, virus susceptibility, efficient transfection, and application to albinism study.

    Science.gov (United States)

    Wang, Ruoqing; Zhang, Nianwei; Wang, Renkai; Wang, Shengpeng; Wang, Na

    2017-12-01

    In order to provide an applicable cell platform to study fish pathology and skin pigmentation, two cell lines derived from skin tissues of wild-type and albino Japanese flounder were established and named JFSK_wt and JFSK_alb, respectively. These two cell lines were cultured for 45 passages within approximately 300 days. JFSK_wt and JFSK_alb cells were maintained in Dulbecco's Modified Eagle's Medium and Ham's F-12 Nutrient Mixture (DMEM/F12) supplemented with antibiotics, fetal bovine serum (FBS), 2-mercaptoethanol (2-Me), N-2-hydroxyethylpiperazine-N'-2-ethanesulfonic acid (HEPES), and basic fibroblast growth factor (bFGF). The optimal growth temperature for JFSK_wt and JFSK_alb cells was 24 °C, and microscopically, the two cell lines were composed of fibroblast-like cells. Chromosomal analysis revealed that JFSK_wt and JFSK_alb cells had an identical diploid karyotype with 2n = 48t. Results of viral inoculation assays revealed that both cell lines shared similar patterns of viral susceptibility to nervous necrosis virus (NNV). High transfection efficiency was observed in JFSK_wt and JFSK_alb cells transfected with a pEGFP-N3 reporter plasmid and Cy3-siRNA. The detection of dermal marker Dermo-1 showed that these two cells were both derived from the dermis. Finally, three genes involved in the melanogenesis pathway, including adenylate cyclase type 5 (adcy5), microphthalmia-associated transcription factor (mitf), and endothelin B receptor (ednrb), were downregulated in JFSK_alb versus JFSK_wt cells. Thus, the two cell lines, sampled from skin tissue of wild-type and albino Japanese flounder will be not only helpful for fish pathogen research but also beneficial for albinism-related gene function studies.

  5. A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.

    Science.gov (United States)

    Jalloul, Ali H; Rogasevskaia, Tatiana P; Szerencsei, Robert T; Schnetkamp, Paul P M

    2016-06-17

    K(+)-dependent Na(+)/Ca(2+) exchangers belong to the solute carrier 24 (SLC24A1-5) gene family of membrane transporters. Five different gene products (NCKX1-5) have been identified in humans, which play key roles in biological processes including vision, olfaction, and skin pigmentation. NCKXs are bi-directional membrane transporters that transport 1 Ca(2+)+K(+) ions in exchange for 4 Na(+) ions. Recent studies have linked mutations in the SLC24A4 (NCKX4) and SLC24A5 (NCKX5) genes to amylogenesis imperfecta (AI) and non-syndromic oculocutaneous albinism (OCA6), respectively. Here, we introduced mutations found in patients with AI and OCA6 into human SLC24A4 (NCKX4) cDNA leading to single residue substitutions in the mutant NCKX4 proteins. We measured NCKX-mediated Ca(2+) transport activity of WT and mutant NCKX4 proteins expressed in HEK293 cells. Three mutant NCKX4 cDNAs represent mutations found in the SCL24A4 gene and three represent mutations found in the SCL24A5 gene involving residues conserved between NCKX4 and NCKX5. Five mutant proteins had no observable NCKX activity, whereas one mutation resulted in a 78% reduction in transport activity. Total protein expression and trafficking to the plasma membrane (the latter with one exception) were not affected in the HEK293 cell expression system. We also analyzed two mutations in a Drosophila NCKX gene that have been reported to result in an increased susceptibility for seizures, and found that both resulted in mutant proteins with significantly reduced but observable NCKX activity. The data presented here support the genetic analyses that mutations in SLC24A4 and SLC24A5 are responsible for the phenotypic defects observed in human patients. © 2016 by The American Society for Biochemistry and Molecular Biology, Inc.

  6. Sequence-Based Mapping and Genome Editing Reveal Mutations in SticklebackHps5Cause Oculocutaneous Albinism and thecasperPhenotype.

    Science.gov (United States)

    Hart, James C; Miller, Craig T

    2017-09-07

    Here, we present and characterize the spontaneous X-linked recessive mutation casper , which causes oculocutaneous albinism in threespine sticklebacks ( Gasterosteus aculeatus ). In humans, Hermansky-Pudlak syndrome results in pigmentation defects due to disrupted formation of the melanin-containing lysosomal-related organelle (LRO), the melanosome. casper mutants display not only reduced pigmentation of melanosomes in melanophores, but also reductions in the iridescent silver color from iridophores, while the yellow pigmentation from xanthophores appears unaffected. We mapped casper using high-throughput sequencing of genomic DNA from bulked casper mutants to a region of the stickleback X chromosome (chromosome 19) near the stickleback ortholog of Hermansky-Pudlak syndrome 5 ( Hps5 ). casper mutants have an insertion of a single nucleotide in the sixth exon of Hps5 , predicted to generate an early frameshift. Genome editing using CRISPR/Cas9 induced lesions in Hps5 and phenocopied the casper mutation. Injecting single or paired Hps5 guide RNAs revealed higher incidences of genomic deletions from paired guide RNAs compared to single gRNAs. Stickleback Hps5 provides a genetic system where a hemizygous locus in XY males and a diploid locus in XX females can be used to generate an easily scored visible phenotype, facilitating quantitative studies of different genome editing approaches. Lastly, we show the ability to better visualize patterns of fluorescent transgenic reporters in Hps5 mutant fish. Thus, Hps5 mutations present an opportunity to study pigmented LROs in the emerging stickleback model system, as well as a tool to aid in assaying genome editing and visualizing enhancer activity in transgenic fish. Copyright © 2017 Hart and Milller.

  7. Structural insight with mutational impact on tyrosinase and PKC-β interaction from Homo sapiens: Molecular modeling and docking studies for melanogenesis, albinism and increased risk for melanoma.

    Science.gov (United States)

    Banerjee, Arundhati; Ray, Sujay

    2016-10-30

    Human tyrosinase, is an important protein for biosynthetic pathway of melanin. It was studied to be phosphorylated and activated by protein kinase-C, β-subunit (PKC-β) through earlier experimentations with in vivo evidences. Documentation documents that mutation in two essentially vital serine residues in C-terminal end of tyrosinase leads to albinism. Due to the deficiency of protective shield like enzyme; melanin, albinos are at an increased peril for melanoma and other skin cancers. So, computational and residue-level insight including a mutational exploration with evolutionary importance into this mechanism lies obligatory for future pathological and therapeutic developments. Therefore, functional tertiary models of the relevant proteins were analyzed after satisfying their stereo-chemical features. Evolutionarily paramount residues for the activation of tyrosinase were perceived via multiple sequence alignment phenomena. Mutant-type tyrosinase protein (S98A and S102A) was thereby modeled, maintaining the wild-type proteins' functionality. Furthermore, this present comparative study discloses the variation in the stable residual participation (for mutant-type and wild-type tyrosinase-PKCβ complex). Mainly, an increased number of polar negatively charged residues from the wild-type tyrosinase participated with PKC-β, predominantly. Fascinatingly supported by evaluation of statistical significances, mutation even led to a destabilizing impact in tyrosinase accompanied by conformational switches with a helix-to-coil transition in the mutated protein. Even the allosteric sites in the protein got poorly hampered upon mutation leading to weaker tendency for binding partners to interact. Copyright © 2016 Elsevier B.V. All rights reserved.

  8. Observation of a unique case of metastatic basal cell carcinoma found by radiographic evaluation in a patient with oculocutaneous albinism [v1; ref status: indexed, http://f1000r.es/2lw

    Directory of Open Access Journals (Sweden)

    Mickaila Johnston

    2014-01-01

    Full Text Available Background: Basal cell carcinoma is one of the more common cancers worldwide; 2.8 million are diagnosed annually in the USA.  However, the rate at which it metastasizes is considered very low, between 0.0028 and 0.5%.  For those rare cases in which metastases occur, approximately one third metastasize to the lung.  Case: Presented is a 62-year-old Caucasian male with oculocutaneous albinism and a history of basal cell carcinomas occurring in multiple anatomic sites, most recently at the bilateral forearm and back.  Surveillance PET/CT imaging led to the discovery of no less than 30 lung nodules which were consistent with basal cell carcinoma on biopsy.  Histological features were remarkably similar in both the primary tumor and in the metastases. Conclusion:  An unusual case of a non-head and neck primary basal cell carcinoma metastatic to the lung was discovered on surveillance PET/CT imaging, in a patient with oculocutaneous albinism.

  9. The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids

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    Kedda, M.A.; Stevens, G.; Manga, P.; Viljoen, C.; Jenkins, T.; Ramsay, M. (South African Institute for Medical Research, Johannesburg (South Africa) Univ. of Witwatersrand, Johannesburg (South Africa))

    1994-06-01

    Tyrosinase-positive oculocutaneous albinism (ty-pos OCA) is an autosomal recessive disorder of the melanin pigmentary system. South African ty-pos OCA individuals occur with two distinct phenotypes, with or without darkly pigmented patches (ephelides, or dendritic freckles) on exposed areas of the skin. These phenotypes are concordant within families, suggesting that there may be more than one mutation at the ty-pos OCA locus. Linkage studies carried out in 41 families have shown linkage between markers in the Prader-Willi/Angelman syndrome (PWS/AS) region on chromosome 15q11-q13 and ty-pos OCA. Analysis showed no obligatory crossovers between the alleles at the D15S12 locus and ty-pos OCA, suggesting that the D15S12 locus is very close to or part of the disease locus, which is postulated to be the human homologue, P, of the mouse pink-eyed dilution gene, p. Unlike caucasoid [open quotes]ty-pos OCA[close quotes] individuals, negroid ty-pos OCA individuals do not show any evidence of locus heterogeneity. Studies of allelic association between the polymorphic alleles detected at the D15S12 locus and ephelus status suggest that there was a single major mutation giving rise to ty-pos OCA without ephelides. There may, however, be two major mutations causing ty-pos OCA with ephelides, one associated with D15S12 allele 1 and the other associated with D15S12 allele 2. The two loci, GABRA5 and D15S24, flanking D15S12, are both hypervariable, and many different haplotypes were observed with the alleles at the three loci on both ty-pos OCA-associated chromosomes and [open quotes]normal[close quotes] chromosomes. No haplotype showed statistically significant association with ty-pos OCA, and thus none could be used to predict the origins of the ty-pos OCA mutations. On the basis of the D15S12 results, there is evidence for multiple ty-pos OCA mutations in southern African negroids. 31 refs., 1 fig., 3 tabs.

  10. Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.

    Science.gov (United States)

    Shah, S A; Raheem, N; Daud, S; Mubeen, J; Shaikh, A A; Baloch, A H; Nadeem, A; Tayyab, M; Babar, M E; Ahmad, J

    2015-10-01

    Oculocutaneous albinism (OCA) is an autosomal recessive disorder of abnormal melanin formation, which results in hypopigmentation of skin, hair and eyes. OCA is classified into four types based on clinical and genetic findings. OCA1 is the most severe form of albinism, and is caused by mutations in the tyrosinase (TYR) gene, while OCA4 is caused due to mutations in SLC45A2. In total, 13 families with ≥ 3 members with OCA were enrolled. Family history was ascertained and pedigrees were drawn up. Blood samples were collected and processed for DNA extraction. Linkage analysis was performed by typing three short tandem repeat markers in candidate regions of TYR and SLC45A2. Sequence analysis was performed of all the coding exons and adjacent intronic sequences of both genes. Eight families showed linkage to OCA1 and one family showed linkage to OCA4. Four missense substitutions (p.Arg239Trp, p.Ser192Tyr, p.Ser44Arg and p.Arg77Gln) were identified in TYR in the families with OCA1 linkage, and another missense substitution (p.Gln272Lys) was identified in the family with OCA4 linkage. One of the identified missense substitution (p.Arg77Gln) in TYR was found in five different families, which had a common haplotype. We identified four missense substitutions in TYR and a single missense substitution in SLC45A2. One missense substitution (p.Arg77Gln) in TYR was found in five different families that originated from the same geographical area and displayed a common haplotype, suggesting a single origin that then spread to different geographical areas of Azad Kashmir, Pakistan. © 2015 British Association of Dermatologists.

  11. High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.

    Science.gov (United States)

    Morice-Picard, Fanny; Lasseaux, Eulalie; Cailley, Dorothée; Gros, Audrey; Toutain, Jérome; Plaisant, Claudio; Simon, Delphine; François, Stéphane; Gilbert-Dussardier, Brigitte; Kaplan, Josseline; Rooryck, Caroline; Lacombe, Didier; Arveiler, Benoit

    2014-01-01

    Oculocutaneous albinism (OCA) is caused by mutations in six different genes, and their molecular diagnosis encompasses the search for point mutations and intragenic rearrangements. Here, we used high-resolution array-comparative genome hybridization (CGH) to search for rearrangements across exons, introns and regulatory sequences of four OCA genes: TYR, OCA2, TYRP1, and SLC45A2. We identified a total of ten new deletions in TYR, OCA2, and SLC45A2. A complex rearrangement of OCA2 was found in two unrelated patients. Whole-genome sequencing showed deletion of a 184-kb fragment (identical to a deletion previously found in Polish patients), whereby a large portion of the deleted sequence was re-inserted after severe reshuffling into intron 1 of OCA2. The high-resolution array-CGH presented here is a powerful tool to detect gene rearrangements. Finally, we review all known deletions of the OCA1-4 genes reported so far in the literature and show that deletions or duplications account for 5.6% of all mutations identified in the OCA1-4 genes. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  12. Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in theOCA2gene revealed a co-segregation of the controversial variant, p.R305W.

    Science.gov (United States)

    Gao, Jackson; D'Souza, Leera; Wetherby, Keith; Antolik, Christian; Reeves, Melissa; Adams, David R; Tumminia, Santa; Wang, Xinjing

    2017-01-01

    Oculocutaneous albinism (OCA) is an autosomal recessive disorder. A significant portion of OCA patients has been found with a single pathogenic variant either in the TYR or the OCA2 gene. Diagnostic sequencing of the TYR and OCA2 genes is routinely used for molecular diagnosis of OCA subtypes. To study the possibility that genomic abnormalities with single or multiple exon involvement may account for a portion of the potential missing pathogenic variants (the second), we retrospectively analyzed the TYR gene by long range PCR and analyzed the target 2.7 kb deletion in the OCA2 gene spanning exon 7 in OCA patients with a single pathogenic variant in the target genes. In the 108 patients analyzed, we found that one patient was heterozygous for the 2.7 kb OCA2 gene deletion and this patient was positive with one pathogenic variant and one possibly pathogenic variant [c.1103C>T (p.Ala368Val) + c.913C>T (p.R305W)]. Further analysis of maternal DNA, and two additional OCA DNA homozygous for the 2.7 kb deletion, revealed that the phenotypically normal mother is heterozygous of the 2.7 kb deletion and homozygous of the p.R305W. The two previously reported patients with homozygous of the 2.7 kb deletion are also homozygous of p.R305W. Among the reported pathogenic variants, the pathogenicity of the p.R305W has been discussed intensively in literature. Our results indicate that p.R305W is unlikely a pathogenic variant. The possibility of linkage disequilibrium between p.R305W with the 2.7 kb deletion in OCA2 gene is also suggested.

  13. Um caso de albinismo em tachã (Chauna Torquata, Oken (Aves, Anseniformes ocorrido na estação ecológica do Taím, Rio Grande do Sul, Brasil A case of albinism in Southern screamer (Chauna Torquata, Oken (Aves, Anseniformes occurred at the Ecological Station of Taim. Rio Grande do Sul, Brazil

    Directory of Open Access Journals (Sweden)

    Luiz Alberto Veiga

    1995-09-01

    Full Text Available It is described herein a case study of albinism in Chauna torquata Oken, 1816 (Southern screamer occurred at the Ecological Station of Taim, Rio Grande do Sul. Brazil. Screamers are birds of marshes, wet grasslands and forest lagoons. The bill is short and curved, the head is small and slender and the neek rather short. The strong wings are armed with two large, sharp spurs on their forward edge. The feet and legs are fleshy, the lower half of the tibia is bare, and the three long front toes show just a trace of webbing between them, They are often seen walking in pairs on the floating masses of vegetation or in large groups for feeding. The albino specimen described herein was observed feeding in the midst of a group of almost fifty birds. Their plumage was white but their legs and bill were normally red pigmented, and also presented a light grey ring on its neek. It did not represent a case of total albinism, in which pigment should be totally absent.

  14. The experience of people with oculocutaneous albinism

    Directory of Open Access Journals (Sweden)

    Mmuso B.J. Pooe-Monyemore

    2012-07-01

    Opsomming Hierdie aanbieding is ‘n verslag oor bevindings van die ervaring van persone met okulokutaneuse albinisme in Suid-Afrika. Okulokutaneuse albinisme is ‘n oorerflike afwyking, gekenmerk deur ‘n gebrekkige melanien produksie. Daar is min of geen pigmentasie in die vel, hare en oë nie. Hierdie toestand word wêreldwyd aangetref met ‘n hoër voorkoms in sub-Sahara Afrika en groepe in Suid Amerika. Mense met hierdie toestand het dikwels ‘n stigma en daar word teen hulle gediskrimineer as gevolg van mites en bygelowe van die publiek oor die toestand. Tot datum het geen studies die psigososiale aspek van hierdie toestand ondersoek nie. ‘n Kwalitatiewe studie is in Johannesburg, Suid-Afrika uitgevoer in 2007. ‘n Doelgerigte steekproef van 15 swart mense met okulokutaneuse albinisme het deel geneem aan in diepte individuele fenomenologiese onderhoude. ‘n Sentrale vraag was gestel om die onderhoude te fasiliteer: Kan u asseblief u ervaring as ‘n persoon met albinisme deel?”’ Data van die onderhoude was geanaliseer deur van Collaizi’s se kwalitatiewe data analise metode gebruik te maak. Drie hooftemas het te voorskyn gekom, naamlik: (1 persepsies van die interne omgewing byvoorbeeld die self; (2 ervarings van die eksterne omgewing, byvoorbeeld die familie en die gemeenskap; en (3 die behoefte vir self ontwikkeling en groei gebaseer op hulle ervarings. Aanbevelings is gemaak deur die navorsers om self konsep uit te lig , en om ‘n gevoel van ‘behoort aan’, self ontwikkeling en groei in mense met okulokutaneuse albinisme te bevorder.

  15. Psychiatric Morbidity among Subjects with Leprosy and Albinism in ...

    African Journals Online (AJOL)

    on a patient's body image and often lead to stigmatization.[1,2]. Psychiatric disorders are frequent ... depressive symptoms and lower levels of self-esteem compared with adolescents whose parents were ... Background: Skin, which is the largest organ in the body, carries immense psychological significance. Disfiguring skin ...

  16. Basosquamous carcinoma in an Indian patient with oculocutaneous albinism

    Directory of Open Access Journals (Sweden)

    Ranjan Nitin

    2009-01-01

    Full Text Available A middle-aged man with type IA OCA presented to us with a large ulcerated plaque of three year duration over the forehead. Histopathology showed basosquamous carcinoma in the form of distinct areas of basal and squamous differentiation. Metastasis workup was negative. Complete surgical excision, strict photoprotection and regular follow-up were advised. A timely recognition of this potentially aggressive neoplasm is the key to curative treatment.

  17. Analysis of MC1R variants in Indian oculocutaneous albinism ...

    Indian Academy of Sciences (India)

    1 c.1-5G>A. NA. Novel. 1/0. None detected in 25 control individuals. 2 c.274G>A p.Val92Met rs2228479. 2/0. Associated with both melanoma and nonmelanoma skin cancer. 3 c.444C>T p.Tyr148Tyr. Novel. 1/0. None detected in 25 control individuals. 4 c.451C>T p.Arg151Cys rs1805007. 1/0. Loss of function variant; ...

  18. Indicii fizico-chimici şi limitele elementelor toxice în mierea de albine

    Directory of Open Access Journals (Sweden)

    EREMIA Nicolae

    2016-06-01

    Full Text Available The purpose of accomplished investigations was to determine physical and chemical indices of polyfloral bee honey and the presence of toxic elements, radionuclides and pesticides. Honey samples submitted by the economic agents to the Testing Laboratory of the Animal Origin Products of the Republican Veterinary Diagnostic Center during 2012-2013 have served as object of these investigations. It was revealed that the mass fraction of water in the investigated polyfloral honey constituted on average 16,61-16,87%, invert sugar – 81,37- 94,6%, sucrose – 1,52-1,97%, diastase index – 17,88-18,58 Gote units, the content of oxymethylfurfural (HMF was 7,83-7,99 mg/kg, total acidity – 2,08-9,74 cm3 NaOH solution (in milliequivalents per 100 g of honey, ash – 0,08%, substances in soluble in water – absence. It was determined that the presence of toxic elementsin polyfloral honey is much lower than the admissible norms for this product, constituting on average: lead – less than 0,02- 0,024 mg/kg, cadmium– 0,004-0,009 mg/kg, arsenic – 0,011-0,031 mg/kg. The level of radionuclides constituted: cesium-137 – 3,26-3,422 Bq/kg, strontium-90 – 2,71-4,485 Bq/kg, hexachlorocyclohexane a, b, g – < 0,001 mg/kg; DDT and metabolites – < 0,005 mg/kg. Polyfloral honey obtained in the Republic of Moldova, according to the organoleptic indices, physical and chemical indices, the presence of toxic elements, radionuclides and pesticides, meets the required norms and is recommended for consumption. Rezumat. În studiul de faţă s-au determinat indicii fizico-chimici ai mierii poliflore şi prezenţa elementelor toxice, radionucleidelor şi pesticidelor. Ca obiect al investigaţiilor au servit mostrele de miere prezentate de agenţii economici în Laboratorul de Încercări ale Produselor de Origine Animalieră de la Centrul Republican Diagnostic Veterinar pe parcursul anilor 2012-2013. S-a relevat că fracţia masică de apă în mierea polifloră cercetată constituie, în medie, 16,61-16,87%, de zahăr invertit – 81,37-94,6%, de zaharoză – 1,52-1,97%, indicele diastazic – 17,88-18,58 un. Gote, conţinutul de oximetilfurfurol (HMF – 7,83-7,99 mg/kg, aciditatea totală – 2,08-9,74 cm3 NaOH soluţie în (miliechivalenţi la 100 g miere, cenuşa – 0,08%, substanţe insolubile în apă – lipsă. S-a determinat că în mierea polifloră prezenţa elementelor toxice este mult mai redusă decât normele admisibile la acest produs ce constituie, în medie: plumb – mai puţin de 0,02-0,024 mg/kg, cadmiu – 0,004-0,009 mg/kg şi arsen – 0,011-0,031 mg/kg. Nivelul radionucleidelor a constituit: cesiu-137 – 3,26-3,422Bq/kg, stronţiu-90 – 2,71-4,485 Bq/kg, hexaclorciclohexan a, b, g – <0,001 mg/kg şi DDT şi metaboliţi – <0,005 mg/kg. Mierea polifloră obţinută în Republica Moldova corespunde, după indicii organoleptici, fizico-chimici şi nivelul de elemente toxice, radionucleide şi pesticide, normelor admisibile şi este recomandată pentru utilizare de către consumatori.

  19. Type I oculocutaneous albinism (OCA1) associated with a large deletion of the tyrosinase (TYR) gene

    Energy Technology Data Exchange (ETDEWEB)

    Spritz, R.A.; Wick, P.A.; Holmes, S.A.; Schnur, R.E. [Univ. of Wisconsin, Madison, WI (United States)]|[Children`s Hospital of Philadelphia, PA (United States)

    1994-09-01

    OCA1 is an autosomal recessive disorder in which the biosynthesis of melanin is reduced or absent in skin, hair, and eyes, due to deficient enzymatic activity of tyrosinase. TYR consists of 5 exons spanning over 65 kb at 11q14-q21. Analyses of TYR in >400 unrelated patients with OCA1 have identified more than 50 different point mutations; however, no large deletions have been detected. Here we report a large deletion of TYR in a Caucasian boy with OCA1B. Simultaneous SSCP/heteroduplex screening and DNA sequence analysis indicated that the patient was apparently homozygous for a previously described TYR mutation, adjacent to the 3` splice site of IVS2 (-7, t{r_arrow}a). To distinguish between possible gene deletion vs. maternal uniparental isodisomy, we characterized several chromosome 11 polymorphisms. Maternal uniparental isodisomy was excluded by the patient`s heterozygosity for alleles at D11S35 (11q21-122) and HBG2 (11p15.5). In addition, the patient failed to inherit paternal alleles at an MboI RFLP in exon 1 of TYR and at a TaqI RFLP in the promoter region of the gene. To detect a possible submicroscopic deletion, we performed quantitative Southern blot hybridization using a full length TYR cDNA. Compared with controls, both the patient and his father appeared deleted for two or three TYR-derived PstI fragments; the two TYRL-derived fragments appeared normal. These data indicate that the patient and his father have a partial TYR deletion, including at least exons 1, 2, and IVS2. Based on the organization of the gene, this deletion is at least 50 kb in size. The patient is thus hemizygous for the maternally-inherited mutation in IVS2, accounting for his OCA1B phenotype.

  20. Macular pigment optical density spatial distribution measured in a subject with oculocutaneous albinism

    Directory of Open Access Journals (Sweden)

    Christopher M. Putnam

    2014-10-01

    Conclusions: Consistent with previous macular pigment (MP studies of OCA, overall MPOD is reduced in our subject. Mild phenotypic expression of OCA with high functional visual acuity may represent a Henle fiber layer amenable to additional MP deposition. Further study of MP supplementation in OCA patients is warranted.

  1. Intraocular Ossification in the GSP/pe Chicken With Imperfect Albinism.

    Science.gov (United States)

    Shibuya, K; Kinoshita, K; Mizutani, M; Oshima, A; Yamashita, R; Matsuda, Y

    2015-07-01

    The eyes of 2 male and 2 female GSP/pe chickens, the imperfect albino strain, were investigated at 52 weeks of age. Aged chickens of the GSP/pe colony became blind with bilateral ocular enlargement and opaque lenses. Affected eyes (bilateral in 2 males and unilateral in 2 females) were hard and difficult to section; histologic specimens were processed after decalcification. A large portion of the posterior chamber was occupied by cancellous bone containing fibrous and cartilaginous foci. Osseous tissues developed adjacent to the choroid, and no retinal pigment epithelium (RPE) was detected between osseous tissues and the choroid. Small segments of degenerate neuronal retina were scattered in the osseous tissue. The irises and ciliary bodies were deformed by osseous tissue, and the lenses had severe cataracts. These observations suggest that the intraocular osseous tissue may be derived from RPE in the hereditary incomplete-albino strain of chickens. © The Author(s) 2014.

  2. Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism

    DEFF Research Database (Denmark)

    Grønskov, Karen; Dooley, Christopher M; Østergaard, Elsebet

    2013-01-01

    in an individual originating from Lithuania. Immunohistochemistry showed localization of C10orf11 in melanoblasts and melanocytes in human fetal tissue, but no localization was seen in retinal pigment epithelial cells. Knockdown of the zebrafish (Danio rerio) homolog with the use of morpholinos resulted...... in substantially decreased pigmentation and a reduction of the apparent number of pigmented melanocytes. The morphant phenotype was rescued by wild-type C10orf11, but not by mutant C10orf11. In conclusion, we have identified a melanocyte-differentiation gene, C10orf11, which when mutated causes autosomal...

  3. Analysis of MC1R variants in Indian oculocutaneous albinism patients

    Indian Academy of Sciences (India)

    protective against the carcinogenic solar. UV radiation. Multiple genes are responsible for the consti- tutive pigmentation through synthesis and distribution of a basal level ... and promote production of ROS, a known DNA damaging agent (de ...

  4. OUARDI Hela, Les derniers jours de Muhammad, Albin Michel, Paris, 2016

    OpenAIRE

    Baptiste, Enki

    2017-01-01

    Ouvrant sur une description de l’atmosphère lourde régnant dans la ville de Médine, en ce début de mois de juin 632, alors que le prophète de l’islam se meurt, H. Ouardi introduit son lecteur dans une enquête aux allures de roman historique. Si la forme surprend, l’étude minutieuse des sources de la Tradition sunnite et des textes chiites proposée par la chercheure est convaincante. Parvenue à l’analyse des sources scripturaires de la Tradition islamique par le biais de l’orientalisme et de l...

  5. Population data of 13 nonCODIS STR markers located inside the 6 nonsyndromic oculocutaneous albinism genes.

    Science.gov (United States)

    Khordadpoor Deilamani, Faravareh; Akbari, Mohammad Taghi

    2016-11-01

    Allele frequencies and forensic statistics of 13 autosomal short tandem repeat loci were estimated in 56 unrelated Iranian individuals. Except for two loci which were monomorph, a total of 5-11 alleles at each locus were observed and altogether 94 alleles for all selected loci were found. Our results show that 11 out of 13 nonCODIS STR loci are polymorphic and can be useful for human identification and kinship analysis and relationship investigations in Iran.

  6. Carotenoid-enriched microalgal biomass as feed supplement for freshwater ornamentals: albinic form of wels catfish (Silurus glanis)

    Czech Academy of Sciences Publication Activity Database

    Zaťková, I.; Sergejevová, M.; Urban, J.; Vachta, R.; Štys, Dalibor; Masojídek, Jiří

    2011-01-01

    Roč. 17, č. 3 (2011), s. 278-286 ISSN 1353-5773 R&D Projects: GA ČR GA521/09/0656 Institutional research plan: CEZ:AV0Z50200510 Keywords : carotenoid * Chlorella * microalga Subject RIV: EE - Microbiology, Virology Impact factor: 2.179, year: 2011

  7. Hermansky-Pudlak syndrome

    Directory of Open Access Journals (Sweden)

    Preena A

    2017-04-01

    Full Text Available Hermansky-Pudlak syndrome is a rare autosomal recessive multisystem disease, with oculocutneous albinism, pulmonary fibrosis and bleeding diathesis. Here we report a case of Hermansky-Pudlak syndrome who presented with dyspnea, oculocutaneous albinism and nystagmus.

  8. AFRREV IJAH: An International Journal of Arts and Humanities - Vol ...

    African Journals Online (AJOL)

    Socio-Cultural Conception of Albinism and Sexuality Challenges among Persons with Albinism (PWA) in South-West, Nigeria · EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT. AD Ikuomola, 189-208 ...

  9. Vitiligo (For Parents)

    Science.gov (United States)

    ... topic for: Parents Kids Teens Sun Safety Port-Wine Stains Skin, Hair, and Nails Activity: Skin Word Find: Skin Albinism Your Skin Vitiligo Albinism Stretch Marks View more Partner Message About Us Contact Us Partners Editorial Policy Permissions Guidelines ...

  10. Albinismus ve světě zvířat

    OpenAIRE

    NĚMCOVÁ, Klára

    2016-01-01

    The subject of this thesis was to prepare an overview of the information on albinism in animals, characterize its different types and origins. Albinism can be divided into full or partial. This depends on whether the affected individual is all white or whether only some body parts are affected. Another type of albinism is leucism. These animals have affected fur and feathers, but skin is pigmented normally. Albinism is a hereditary disease, but it can also arise during the life, for example, ...

  11. Morphological and molecular characterization of dietary-induced pseudo-albinism during post-embryonic development of Solea senegalensis (Kaup, 1858.

    Directory of Open Access Journals (Sweden)

    Maria J Darias

    Full Text Available The appearance of the pseudo-albino phenotype was investigated in developing Senegalese sole (Solea senegalensis, Kaup 1858 larvae at morphological and molecular levels. In order to induce the development of pseudo-albinos, Senegalese sole larvae were fed Artemia enriched with high levels of arachidonic acid (ARA. The development of their skin pigmentation was compared to that of a control group fed Artemia enriched with a reference commercial product. The relative amount of skin melanophores, xanthophores and iridophores revealed that larval pigmentation developed similarly in both groups. However, results from different relative proportions, allocation patterns, shapes and sizes of skin chromatophores revealed changes in the pigmentation pattern between ARA and control groups from 33 days post hatching onwards. The new populations of chromatophores that should appear at post-metamorphosis were not formed in the ARA group. Further, spatial patterns of distribution between the already present larval xanthophores and melanophores were suggestive of short-range interaction that seemed to be implicated in the degradation of these chromatophores, leading to the appearance of the pseudo-albino phenotype. The expression profile of several key pigmentation-related genes revealed that melanophore development was promoted in pseudo-albinos without a sufficient degree of terminal differentiation, thus preventing melanogenesis. Present results suggest the potential roles of asip1 and slc24a5 genes on the down-regulation of trp1 expression, leading to defects in melanin production. Moreover, gene expression data supports the involvement of pax3, mitf and asip1 genes in the developmental disruption of the new post-metamorphic populations of melanophores, xanthophores and iridophores.

  12. Morphological and Molecular Characterization of Dietary-Induced Pseudo-Albinism during Post-Embryonic Development of Solea senegalensis (Kaup, 1858)

    Science.gov (United States)

    Darias, Maria J.; Andree, Karl B.; Boglino, Anaïs; Rotllant, Josep; Cerdá-Reverter, José Miguel; Estévez, Alicia; Gisbert, Enric

    2013-01-01

    The appearance of the pseudo-albino phenotype was investigated in developing Senegalese sole (Solea senegalensis, Kaup 1858) larvae at morphological and molecular levels. In order to induce the development of pseudo-albinos, Senegalese sole larvae were fed Artemia enriched with high levels of arachidonic acid (ARA). The development of their skin pigmentation was compared to that of a control group fed Artemia enriched with a reference commercial product. The relative amount of skin melanophores, xanthophores and iridophores revealed that larval pigmentation developed similarly in both groups. However, results from different relative proportions, allocation patterns, shapes and sizes of skin chromatophores revealed changes in the pigmentation pattern between ARA and control groups from 33 days post hatching onwards. The new populations of chromatophores that should appear at post-metamorphosis were not formed in the ARA group. Further, spatial patterns of distribution between the already present larval xanthophores and melanophores were suggestive of short-range interaction that seemed to be implicated in the degradation of these chromatophores, leading to the appearance of the pseudo-albino phenotype. The expression profile of several key pigmentation-related genes revealed that melanophore development was promoted in pseudo-albinos without a sufficient degree of terminal differentiation, thus preventing melanogenesis. Present results suggest the potential roles of asip1 and slc24a5 genes on the down-regulation of trp1 expression, leading to defects in melanin production. Moreover, gene expression data supports the involvement of pax3, mitf and asip1 genes in the developmental disruption of the new post-metamorphic populations of melanophores, xanthophores and iridophores. PMID:23874785

  13. Frontiers of Karst Research: Proceedings and recommendations of the workshop held in San Antonio, Texas on 3-5 May 2007. Karst Waters Institute Special Publication 13

    Science.gov (United States)

    2009-01-08

    maps with quantitative trait analysis to investigate the genetic basis of pigment loss (e.g. the evolution of albinism ) in two different populations...of cave-adapted A. mexicanus (Protas et al., 2006). This study found that albinism in these populations was linked to a known pigmentation gene...Oca2. Furthermore, different inactivating mutations were identified, indicating that albinism has evolved independently in the two studied

  14. Download this PDF file

    African Journals Online (AJOL)

    toxoplasmosis, measles, sickle cell retinopathy (through genetic counseling), trauma and glaucoma (early detection and treatment)], treatable (refractive error and amblyopia) and unavoidable (maculopathy, optic atrophy and oculocutaneous albinism).

  15. Analogs of human genetic skin disease in domesticated animals

    Directory of Open Access Journals (Sweden)

    Justin Finch, MD

    2017-09-01

    The genetic skin diseases we will review are pigmentary mosaicism, piebaldism, albinism, Griscelli syndrome, ectodermal dysplasias, Waardenburg syndrome, and mucinosis in both humans and domesticated animals.

  16. The 'evil albino' stereotype: an impediment to the right to equality.

    Science.gov (United States)

    Mswela, Maureen

    2013-03-01

    This article address the 'evil albino' plot device or albino bias as portrayed in films and explores how such labelling stimulates societal intolerance and discrimination against People Living With Albinism. The article reveals how media perpetuates stereotypes of albinism through their portrayal of role players and argues that the continued existence of such stereotypes is a failure to see albinism for what it is: a medical condition. The article further discusses Albinism related stigma and discrimination against the backdrop of the 'evil albino' plot device.

  17. Large-scale recombinant expression and purificatoin of human tyrosinase suitabel for structural studies

    NARCIS (Netherlands)

    Lai, X.; Soler-Lopez, M.; Wichers, H.J.; Dijkstra, Bouke

    2016-01-01

    Human tyrosinase (TYR) is a glycoprotein that initiates the first two reactions in the melanin biosynthesis pathway. Mutations in its encoding gene cause Oculocutaneous Albinism type I (OCA1), the most severe form of albinism, which is a group of autosomal recessive disorders characterized by

  18. RNA Regulation of Estrogen

    Science.gov (United States)

    2010-08-01

    5.28 207768_at Egr4 early growth response 4 5.28 206630_at tyr tyrosinase-like (pseudogene); tyrosinase ( oculocutaneous albinism IA) 4.92 206630_at...TYRL tyrosinase-like (pseudogene); tyrosinase ( oculocutaneous albinism IA) 4.92 217386_at MRPS11P1 mitochondrial ribosomal protein S11 pseudogene 1 4.92

  19. Effect of sunlight shielding on leaf structure and amino acids ...

    African Journals Online (AJOL)

    In this case, the chloroplasts showed partially lysed, with few thylakoids. The leaf albinism was reverted when the leaf was shielded from direct illumination of strong sunlight. It is considered that the blocked development of chloroplast and photosynthetic pigments in the albinism leaf inhibited the biosynthesis of leaf proteins, ...

  20. Author Details

    African Journals Online (AJOL)

    Ikuomola, AD. Vol 4, No 2 (2015) - Articles Socio-Cultural Conception of Albinism and Sexuality Challenges among Persons with Albinism (PWA) in South-West, Nigeria Abstract PDF. ISSN: 2227-5452. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about ...

  1. Increasing the complexity

    DEFF Research Database (Denmark)

    Montoliu, Lluís; Grønskov, Karen; Wei, Ai-Hua

    2014-01-01

    Albinism is a rare genetic condition globally characterized by a number of specific deficits in the visual system, resulting in poor vision, in association with a variable hypopigmentation phenotype. This lack or reduction in pigment might affect the eyes, skin, and hair (oculocutaneous albinism,...

  2. Malignant Melanoma in an Albino | Efem | Sudan Journal of Medical ...

    African Journals Online (AJOL)

    Oculocutaneous albinism is a rare autosomal recessive disorder characterised by generalised depigmentation, photophobia, decreased visual acuity, and nystagmus. Malignant melanoma is rare in patients with albinism. We report a case of a large advanced fumigating tumour on the right forearm of a male Nigerian albino ...

  3. Oubrou Tareq, Privot Michaël et Baylocq Cédric, Profession imâm : entretiens avec Michaël Privot et Cédric Baylocq, Paris, Albin Michel, 2009, 248 p.

    Directory of Open Access Journals (Sweden)

    Marie-Laure Boursin

    2011-11-01

    Full Text Available Ce recueil d’entretiens avec Tareq Oubrou s’ouvre sur un avant-propos des co-auteurs, Michaël Privot et Cédric Baylocq. Le premier, docteur en langues et lettres, spécialisé en philosophie islamique classique, s’est converti, adolescent, à l’islam ; le second, doctorant en anthropologie, se présente comme agnostique, « animé de profondes convictions laïques républicaines » (p. 15. A partir d’entretiens effectués entre 2006 et 2008, autour de divers thèmes, les auteurs tentent d’appréhender c...

  4. Elena Lasida, 2011, Le goût de l'autre. La crise, une chance pour réinventer le lien, Paris : Albin Michel, 326 p.

    Directory of Open Access Journals (Sweden)

    Igor Martinache

    2011-05-01

    Full Text Available Voici le type d'essai dont la lecture a de quoi laisser quelque peu perplexe. Non seulement parce que l'auteure y alterne fréquemment les registres d'expression (émotionnel ou scientifique, vague ou précis, mais aussi car elle semble de ce fait y courir plusieurs lièvres à la fois. Maître de conférences à l'Institut Catholique de Paris où elle dirige un Master intitulé « Economie solidaire et logique de marché » et est co-responsable de la chaire « Ethique et finance », Elena Lasida propose ...

  5. GABA(A) Receptor Alpha5 Subunit as a Candidate Gene for Autism and Bipolar Disorder: A Proposed Endophenotype with Parent-of-Origin and Gain-of-Function Features, with or without Oculocutaneous Albinism

    Science.gov (United States)

    Delong, Robert

    2007-01-01

    Our earlier family history studies of individuals with autism found a high incidence of major affective disorder, especially bipolar disorder, and unusual talents or intellectual abilities among family members. We now describe a subgroup of such families, selected from a large clinical experience, illustrating specific features of major affective…

  6. "They Think They Know What's Best for Me": An Interpretative Phenomenological Analysis of the Experience of Inclusion and Support in High School for Vision-Impaired Students with Albinism

    Science.gov (United States)

    Thurston, Mhairi

    2014-01-01

    The challenges of social inclusion and access to the curriculum facing students with visual impairment in schools are well documented. The refreshed UK Vision Strategy (2013) seeks to improve education for students with vision impairment. In order to do this, it is important to understand how students with visual impairment experience education.…

  7. An observation of a partially albinistic zenaida macroura (Mourning Dove)

    Science.gov (United States)

    Berdeen, James; Otis, D.L.

    2011-01-01

    Abstract Three of the 4 forms of albinism that occur in avifauna have been detected in Zenaida macroura (Mourning Dove). Albinism is rare in this species, and the incidence rate of each age and sex cohort is not well known. Consequently, we examined the pigmentation of Mourning Doves encountered in the Coastal Plain of South Carolina, and classified the age and sex of all individuals. One adult male Mourning Dove had unusually light coloration of some feathers and the upper mandible. This pigmentation is consistent with partial albinism. This was the only individual out of 10,749 examined that appeared to be albinistic. This low incidence rate of albinism supports the conclusion that this condition is relatively rare in Mourning Doves (Mirarchi 1993).

  8. Congenital visual pathway abnormalities : A window onto cortical stability and plasticity

    NARCIS (Netherlands)

    Hoffmann, Michael B.; Dumoulin, Serge O.|info:eu-repo/dai/nl/314406514

    2015-01-01

    Sensory systems project information in a highly organized manner to the brain, where it is preserved in maps of the sensory structures. These sensory projections are altered in congenital abnormalities, such as anophthalmia, albinism, achiasma, and hemihydranencephaly. Consequently, these

  9. NIDCD Glossary

    Science.gov (United States)

    ... the sense of taste. Albinism - lack of normal pigment in the skin, eyes, and hair. Alport Syndrome - ... throat) that is the primary organ of voice production. Learning Disabilities - childhood disorders characterized by difficulty with ...

  10. Albino mice as an animal model for infantile nystagmus syndrome

    NARCIS (Netherlands)

    D.L. Traber (Daniel); C.-C. Chen (Chien-Cheng); Y.-Y. Huang (Ying-Yu); M. Spoor (Monique); J. Roos (Jeanine); M.A. Frens (Maarten); D. Straumann (Dominik); C. Grimm (Christian)

    2012-01-01

    textabstractPURPOSE. Individuals with oculocutaneous albinism are predisposed to visual system abnormalities affecting the retina and retinofugal projections, which may lead to reduced visual acuity and Infantile Nystagmus Syndrome (INS). Due to absence of an established mammalian animal model,

  11. Chédiak-Higashi syndrome: presentation of seven cases

    OpenAIRE

    Carnide, Eugénia Maria Grilo; Jacob, Cristina Miuki Abe; Pastorino, Antonio Carlos; Bellinati-Pires, Raquel; Costa, Maria Beatriz Guimarães; Grumach, Anete Sevciovic

    1998-01-01

    CONTEXT: Chédiak-Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules, and oculocutaneous albinism. OBJECTIVE: To describe clinical and laboratory findings from CHS patients. DESIGN: Case report. SETTING: The patients were admitted into the Allergy and Immunology Unit of the Instituto da Criança, a tertiary public care institution. CASES REPORT: Seven patients had oculocutaneous albinism, recurrent infections and gi...

  12. The unique association of iris heterochromia with Hermansky-Pudlak syndrome.

    Science.gov (United States)

    Radke, Phillip; Schimmenti, Lisa A; Schoonveld, Cheri; Bothun, Erick D; Summers, C Gail

    2013-10-01

    Melanin biosynthesis is reduced in oculocutaneous albinism, an autosomal recessive disorder. Hermansky-Pudlak syndrome is associated with oculocutaneous albinism but also has systemic complications. The ocular and systemic phenotypes vary, depending, in part, on the genetic mutations. This report presents a case of a patient with Hermansky-Pudlak syndrome and the unique association of iris heterochromia. Copyright © 2013 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

  13. Final Environmental Planning Technical Report. Land Use

    Science.gov (United States)

    1984-01-01

    Courts 4 Rifle Range I Swimming Pool 1 Mat Room (Wrestling, Judo ) I Multipurpose Room -- Tennis Courts 4 -- Volleyball Courts 4 Outdoor Facilities...County. Cheyenne, Wyomi ng. Cheyenne-Laramie County Regional Planning Office 1978 The Land Use Plans for Albin , Burns, Pine Bluffs, and Laramie... Albin , Chugwater, Pine Bluffs, Gering-Scottsbluff, and Kimball) were not considered in the regional recreation analysis. In the settlement year (1991

  14. Longitudinal study of spherical refractive error in infantile nystagmus syndrome.

    Science.gov (United States)

    Healey, Natasha; McClelland, Julie F; Saunders, Kathryn J; Jackson, A Jonathan

    2014-05-01

    To explore the onset and progression of spherical refractive error in a population with infantile nystagmus syndrome. Retrospective refractive error data were obtained from 147 medical records of children with infantile nystagmus syndrome (albinism n = 98; idiopathic infantile nystagmus n = 49), attending a low vision clinic in Northern Ireland, over a 24 year period (1986-2010). Data were categorised by age to allow for comparisons with published studies. A prospective group of participants with Infantile nystagmus syndrome (INS) [n = 22 (albinism n = 18, idiopathic infantile nystagmus n = 4)] (aged 0-4) were also recruited. Cycloplegic streak retinoscopy was performed biannually, over a 3 year period. Spherical equivalent refractive error and most ametropic meridian were analysed. The mean spherical equivalent refractive errors for albinism and idiopathic infantile nystagmus groups (across all age categories) were hypermetropic, with highest levels demonstrated by the participants with albinism aged 1 ≤ 4 years (Mann-Whitney U test, p = 0.013). Mean most ametropic meridian was highest in the albinism group aged 1 ≤ 12 years (Mann-Whitney U test, p refractive errors over time. Prospective participants were hypermetropic at all visits and those with albinism had, on average, higher refractive errors than those with idiopathic infantile nystagmus (IIN). No significant correlations were noted between visual acuity and spherical equivalent refractive errors or most ametropic meridian. Hypermetropia is the most prevalent spherical refractive error in the INS population, irrespective of level of visual acuity. Individuals with infantile nystagmus syndrome fail to demonstrate typical patterns of emmetropisation, particularly in the presence of albinism. © 2014 The Authors Ophthalmic & Physiological Optics © 2014 The College of Optometrists.

  15. Um caso de albinismo em Tayassu tajacu Linnaeus (Artiodactyla, Tayassuidae na Serra do Mar, São José dos Pinhais, Paraná A case of albinism in Tayassu tajacu Linnaeus (Artiodactyla, Tayassuidae in Serra do Mar, São José dos Pinhais, Paraná

    Directory of Open Access Journals (Sweden)

    L. A. Veiga

    1994-01-01

    Full Text Available Described herein is a case of alhinism in lhe Peccary Tayassu tajacu Linnaeus. 1758 (Artiodaclyla. Tayassuidae. which was observed in Colônia Castelhanos. São José dos Pinhais. Paraná, in lhe Southern Bra/il. The specimen was caplured when very young. The normal peccary (Tayassu tajacu is a dark-gray animal wilh a while hand across the ehest from shoulder Io shoulder. This animal have while skin. hlued eyes bul has pigmented feet.

  16. An intracellular anion channel critical for pigmentation.

    Science.gov (United States)

    Bellono, Nicholas W; Escobar, Iliana E; Lefkovith, Ariel J; Marks, Michael S; Oancea, Elena

    2014-12-16

    Intracellular ion channels are essential regulators of organellar and cellular function, yet the molecular identity and physiological role of many of these channels remains elusive. In particular, no ion channel has been characterized in melanosomes, organelles that produce and store the major mammalian pigment melanin. Defects in melanosome function cause albinism, characterized by vision and pigmentation deficits, impaired retinal development, and increased susceptibility to skin and eye cancers. The most common form of albinism is caused by mutations in oculocutaneous albinism II (OCA2), a melanosome-specific transmembrane protein with unknown function. Here we used direct patch-clamp of skin and eye melanosomes to identify a novel chloride-selective anion conductance mediated by OCA2 and required for melanin production. Expression of OCA2 increases organelle pH, suggesting that the chloride channel might regulate melanin synthesis by modulating melanosome pH. Thus, a melanosomal anion channel that requires OCA2 is essential for skin and eye pigmentation.

  17. Malignant transformation of actinic keratoses to squamous cell carcinoma in an albino

    Directory of Open Access Journals (Sweden)

    Ramalingam Vijaya

    2009-01-01

    Full Text Available A 25-year-old male, who was a known case of oculocutaneous albinism presented to us with right inguinal swellings of six months′ duration. He gave a preceding history of a similar lump in the right thigh, which was excised at the Chennai Government Hospital. He was diagnosed to have oculocutaneous albinism with actinic keratoses, with multiple squamous cell carcinomas (with metastatic deposits in the right inguinal region and cutaneous horns. The case is reported to highlight preventive aspects in the management of albinos.

  18. Newton, Isaac (1642-1727)

    OpenAIRE

    Paty, Michel

    1995-01-01

    Repris dans Encyclopaedia Universalis, Dictionnaire des Philosophes, Encyclopaedia Universalis/ Albin Michel, Paris, 1998, p.1111-1118 ; repris dans Encyclopaedia Universalis, Dictionnaire de l'Astronomie, Encyclopaedia Universalis/ Albin Michel, Paris, 1999, p.642-650; L'article sur Isaac Newton (1642-1727) se décompose ainsi :Introduction1- Biographie2- 1676 : l'annus mirabilis3- L'oeuvre mathématique et le calcul des fluxions4- L'optique5- La gravitation universelle et les Principia6- La p...

  19. Commander’s Critical Information Requirements (CCIR): Reality Versus Perception

    Science.gov (United States)

    1992-01-01

    early in his life. The sport of football enabled him to practice decision making under the stress of victory or defeat 70 in games filled with...Executive Officer of Combat Command A, 4th Armored Division, during WWII, Mail Interview, 14 October 1992, and BG 49 Albin F. Irzyk (Retired), Commander of...79. Ibid, 149. 80. Weigley, 173. 81. Ibid, 177-178. 82. Ibid, 178. 83. BG Albin F. Irzyk (Retired), "The "Name Enough" Division," Armor Magazine, Vol

  20. Environmental Impact Study of the Northern Section of the Upper Mississippi River. Pool 9.

    Science.gov (United States)

    1973-11-01

    sport fishermen observed 150 46 View of narrow islands created north of Lansing 156 47 View from dredge spoil looking north 157 48 View of deposited...the two Iowa Rivers towns in this area, Lansing and New Albin (Polk, 1922): Lansing has a population of 1,500. Settled in 1850, it now is supported by a...works, first-class hotels,13 banks, a moving picture theatre and two weekly news- papers, the Allamakee Journal and the Lansing Mirror. New Albin has

  1. Download this PDF file

    African Journals Online (AJOL)

    ARMD 101. Diabetic retinopathy 22. Retinal vein occlusion l2. Retinal detachment 6. Hypertensive retinopathy 6. Posterior vitreous detachment 4. Asteroid hyalosis 3. Macular hole 3. Retinitis pigmentosa 2. Ocular albinism l. Refractive errors /presby0pia 153 11.5. Conjunctival diseases 140 . 10.5. Allergic conjunctivitis 7O.

  2. Takayasu's arteritis: A rare cause of cardiac death in a Caucasian teenage female patient

    NARCIS (Netherlands)

    S.A.M. Saïd (Salah); J.C. Koetsveld-Baart (J.); J.C. den Hollander (Jan)

    1997-01-01

    textabstractA Caucasian teenage Dutch schoolgirl with known chronic low visual acuity and albinism, presented with frank acute pulmonary oedema, died after 1 h of cardio-pulmonary resuscitation for bradyarrhythmia and cardiac arrest. Two weeks prior to presentation, during sport training, she

  3. 'We thought we will be safe here': Narratives of Tanzanian Albinos in ...

    African Journals Online (AJOL)

    The study was purely qualitative in nature, involving a hundred and forty-five persons with albinism (PWA) identified in Nairobi (Kenya) and Gauteng province (South Africa). Realities, myths, folktales and legends about albinos as both disabled and divine beings prevailed in the host communities in Kenya and South Africa.

  4. Untitled

    African Journals Online (AJOL)

    7.3%). Three persons were found to have normal eyes. Less common causes of ocular mor- bidity were age-related macula . (0.6%), stra- bismus (0.4%) and congenital conditions like essentialiris atrophy and albinism which accounted for just ...

  5. Chediak-Higashi syndrome presenting in the accelerated phase ...

    African Journals Online (AJOL)

    Chediak-Higashi syndrome (CHS) is an extremely rare autosomal recessive disorder characterised by recurrent pyogenic infections, partial oculocutaneous albinism, and mild bleeding. The most reliable finding that helps in diagnosis is abnormally large granules in leukocytes and other granule-containing cells. Herein we ...

  6. 'Qiannianxue' and 'Xiaoxueya'

    African Journals Online (AJOL)

    ONOS

    2010-01-25

    Jan 25, 2010 ... related to some structural genes missed in the albino tea cultivars, compared to the common tea cultivar. These missed genes may be related to the albinism of tea. It offered important information for further studies on the genetic characteristics of albino tea cultivars. Band S12-2 was exclusively generated ...

  7. Ostracism of an albino individual by a group of pigmented catfish.

    Science.gov (United States)

    Slavík, Ondřej; Horký, Pavel; Maciak, Matúš

    2015-01-01

    Physiological and behavioural constraints hinder albino individuals. Albino animals are rare in the wild; this trait is associated with easy detection by predators, non-native or damaged environments, and exclusively aphotic environments in total darkness. The social aspect of albinism is reported only for human beings, and the effect is distinguishable in time and space when social benefits, are used to a limited the extent. Thus far, the social consequences of albinism for animals remain unknown. We used socially established groups of the pigmented catfish, (Silurus glanis), to observe space and temporal distance detachment of albino specimens in laboratory conditions. The albino fish were separated at larger distances from the group than pigmented individuals with the same social status determined by familiarity, and this asymmetry also varied in time. Albinism-related ostracism results in a solitary existence, usually followed by enhanced predation risk. The motivation for an individual's exclusion from a group appears to be the avoidance of the predation risk that increases not only for an odd individual but also for conspecifics within a group. Our findings indicate a role for albinism in behavioural processes related to sociality in a group of conspecifics.

  8. Editorial

    Indian Academy of Sciences (India)

    2014-01-27

    Jan 27, 2014 ... Cave populations have no use for eyes and pigmentation and, consequently, are eyeless and albino; whereas surface populations have eyes and are pigmented. The two populations can interbreed, and mutations underlying eye degeneration and albinism in the troglodytes segregate in the progeny.

  9. Eesti munitsipaalpolitsei Lääne taustal / Allan Alaküla

    Index Scriptorium Estoniae

    Alaküla, Allan, 1968-

    2002-01-01

    Ilmunud ka: Stolitsa 5. dets. lk. 1. Riigikogu liikmete ja Euroopa politsei- ja omavalitsustegelaste arvamused munitsipaalpolitseist: Jaanus Männik, Keith Whitmore, Peter Shorer, Mai Treial, Michel Albin, Jaana Padrik, Jean Louis Renier, Eva Dohnalova, Calin Catalin Chirita, Aleksei Aleksandrov, Mohammad Nazir, Arvo Sirendi. Parlamendisaadik

  10. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Analysis of MC1R variants in Indian oculocutaneous albinism patients: highlighting the risk of skin cancer among albinos · Mainak Sengupta Devroop Sarkar Maitreyee Mondal Swapan Samanta Asim Sil Kunal Ray · More Details Fulltext PDF. Volume 95 Issue 2 June 2016 pp 459-461 RESEARCH NOTE. TBK1 duplication ...

  11. Predictors of Sensitivity to Perceptual Learning in Children With Infantile Nystagmus

    NARCIS (Netherlands)

    Huurneman, B.; Boonstra, F.N.; Goossens, J.

    2017-01-01

    Purpose: To identify predictors of sensitivity to perceptual learning on a computerized, near-threshold letter discrimination task in children with infantile nystagmus (idiopathic IN: n = 18; oculocutaneous albinism accompanied by IN: n = 18). Methods: Children were divided into two age-, acuity-,

  12. Egyptian Journal of Medical Human Genetics - Vol 11, No 2 (2010)

    African Journals Online (AJOL)

    Clinico-epidemiologic features of oculocutaneous albinism in northeast section of Cairo – Egypt · EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT. AF Mohamed, NS El-Sayed, NS Seifeldin. http://dx.doi.org/10.1016/j.ejmhg.2010.03.001 ...

  13. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics. Maitreyee Mondal. Articles written in Journal of Genetics. Volume 92 Issue 2 August 2013 pp 305-308 Research Note. Analysis of MC1R variants in Indian oculocutaneous albinism patients: highlighting the risk of skin cancer among albinos · Mainak Sengupta Devroop Sarkar Maitreyee ...

  14. Perceptual Learning in Children With Infantile Nystagmus: Effects on 2D Oculomotor Behavior

    NARCIS (Netherlands)

    Huurneman, B.; Boonstra, F.N.; Goossens, J.

    2016-01-01

    PURPOSE: To determine changes in oculomotor behavior after 10 sessions of perceptual learning on a letter discrimination task in children with infantile nystagmus (IN). METHODS: Children with IN (18 children with idiopathic IN and 18 with oculocutaneous albinism accompanied by IN) aged 6 to 11 years

  15. Determination of variants in the 3'-region of the Tyrosinase gene requires locus specific amplification.

    NARCIS (Netherlands)

    Chaki, M.; Mukhopadhyay, A.; Ray, K.

    2005-01-01

    Mutations in the Tyrosinase gene (TYR, 11q14-q21) cause oculocutaneous albinism type 1 (OCA1). The 3'-region of the TYR shows 98.55% sequence identity with a pseudogene, known as Tyrosinase-Like Gene (TYRL, 11p11.2-cen). A large number of publicly available nucleotide variants of TYR in this region

  16. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    More Details Fulltext PDF. Volume 92 Issue 2 August 2013 pp 305-308 Research Note. Analysis of MC1R variants in Indian oculocutaneous albinism patients: highlighting the risk of skin cancer among albinos · Mainak Sengupta Devroop Sarkar Maitreyee Mondal Swapan Samanta Asim Sil Kunal Ray · More Details Fulltext ...

  17. Hermansky-Pudlak syndrome: A case report

    Directory of Open Access Journals (Sweden)

    R Vani

    2014-01-01

    Full Text Available Hermansky-Pudlak syndrome (HPS is a rare autosomal recessive disorder, which results in oculocutaneous albinism, bleeding disorders, and storage of abnormal fat protein compound (liposomal accumulation of ceroid lipofuscin. The major complications of this disorder are pulmonary fibrosis (PF and colitis. This is a case report of an HPS patient with PF.

  18. highlighting the risk of skin cancer among albinos

    Indian Academy of Sciences (India)

    Analysis of MC1R variants in Indian oculocutaneous albinism patients: highlighting the risk of skin cancer among albinos. Mainak Sengupta, Devroop Sarkar, Maitreyee Mondal, Swapan Samanta, Asim Sil and Kunal Ray. J. Genet. 92, 305–308. Table 1. Sequences of primers used for PCR and sequencing. MC1R_3F.

  19. Albinistic common seals (Phoca vitulina) and melanistic grey seals (Halichoerus grypus) rehabilitated in the Netherlands

    NARCIS (Netherlands)

    Osinga, Nynke; 't Hart, Pieter; Vader, Pieter C. van Voorst

    2010-01-01

    The Seal Rehabilitation and Research Centre (SRRC) in Pieterburen, The Netherlands, rehabilitates seals from the waters of the Wadden Sea, North Sea and Southwest Delta area. Incidental observations of albinism and melanism in common and grey seals are known from countries surrounding the North Sea.

  20. OCA1 in different ethnic groups of india is primarily due to founder mutations in the tyrosinase gene.

    NARCIS (Netherlands)

    Chaki, M.; Sengupta, M.S.; Mukhopadhyay, A.; Subba Rao, I.; Majumder, P.P.; Das, M.; Samanta, S.; Ray, K.

    2006-01-01

    Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders characterized by an abnormally low amount of melanin in the eyes, skin and hair, and associated with common developmental abnormalities of the eye. Defects in the tyrosinase gene (TYR) cause a common type of OCA,

  1. Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene.

    NARCIS (Netherlands)

    Chaki, M.; Mukhopadhyay, A.; Chatterjee, S.; Das, M.; Samanta, S.; Ray, K.

    2005-01-01

    PURPOSE: Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment and associated with common developmental abnormalities of the eye. It is one of the major causes of childhood blindness in India. The disease is common among an

  2. Chediak-Higashi syndrome: brain MRI and MR spectroscopy manifestations

    International Nuclear Information System (INIS)

    Lolli, Valentina; Soto Ares, Gustavo; Pruvo, Jean-Pierre; Abou Chahla, Wadih; Jissendi-Tchofo, Patrice

    2015-01-01

    Chediak-Higashi syndrome is a rare inherited metabolic disorder characterized by partial oculocutaneous albinism, immunodeficiency, and neurological dysfunction. We present the brain magnetic resonance imaging (MRI) and MR spectroscopy (MRS) findings obtained during the accelerated phase of the disorder in an 8-year-old. The brain MRI manifestations at recurrences 15 months and 24 months later are reported as well. (orig.)

  3. Chediak-Higashi syndrome - a report of two cases with unusual hyperpigmentation of the face.

    Science.gov (United States)

    Pujani, Mukta; Agarwal, Kiran; Bansal, Shashi; Ahmad, Israr; Puri, Vandana; Verma, Deepti; Pujani, Meenu

    2011-01-01

    Chediak-Higashi syndrome is a rare autosomal recessive disorder due to a qualitative defect in leucocyte function characterized clinically by partial oculocutaneous albinism, recurrent bacterial infections, photophobia etc. The diagnostic feature is the presence of abnormal giant intracytoplasmic granules in neutrophils and their precursors. Here we report this syndrome in two siblings who presented with an unusual hyperpigmentation of the face and extremities.

  4. Basic concepts of medical genetics, pathogenetics: Part 1

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2012-09-04

    Sep 4, 2012 ... Chediak-Higashi syndrome is characterized by the fol- lowing features EXCEPT: A. Partial albinism. B. Nystagmus. C. Megakaryocyte inclusion granules. D. Recurrent infections. E. Increased susceptibility to develop malignant lymphoma. 11. Core signs/symptoms of Autism include the following. EXCEPT:.

  5. East and Central African Journal of Pharmaceutical Sciences Vol. 7 ...

    African Journals Online (AJOL)

    1996-04-24

    Apr 24, 1996 ... basal and squamous cell carcinomas, and melanoma occurs [2]. People with albinism have no natural UV protection, therefore, their skin is more sensitive to sunlight and they develop sunburn. They therefore need maximum protection to burning and to reduce skin cancer. Under the tropical African sun, ...

  6. Basal and squamous cell carcinomata on the same patients: report ...

    African Journals Online (AJOL)

    Background: Skin cancer is the most common cancer among the lightly pigmented individuals in Europe, North America and Australia. It occurs infrequently in darkly pigmented individuals because they have more melanin. Melanin and albinism are a known risk factors for skin cancers in Africans. Those already treated for ...

  7. Genetic transformation of barley: limiting factors

    Czech Academy of Sciences Publication Activity Database

    Vyroubalová, Š.; Šmehilová, M.; Galuszka, P.; Ohnoutková, Ludmila

    2011-01-01

    Roč. 55, č. 2 (2011), s. 213-224 ISSN 0006-3134 R&D Projects: GA ČR GD522/08/H003; GA MŠk 1M06030 Institutional research plan: CEZ:AV0Z50380511 Keywords : Agrobacterium * albinism * Hordeum Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.974, year: 2011

  8. ABCD syndrome is caused by a homozygous mutation in the EDNRB gene

    NARCIS (Netherlands)

    Verheij, JBGM; Kunze, J; Osinga, J; van Essen, AJ; Hofstra, RMW

    2002-01-01

    ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and deafness. This phenotype clearly overlaps with the features of the Shah-Waardenburg syndrome, comprising sensorineural

  9. East and Central African Journal of Pharmaceutical Sciences - Vol 7 ...

    African Journals Online (AJOL)

    Formulation of a topical sun protection cream for people with albinism · EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT. Moipone L Moloisane, Wilna Liebenberg, Antonie P Lötter, Melgardt M de Villiers, 60-64. http://dx.doi.org/10.4314/ecajps.v7i3.9715 ...

  10. Ostracism of an albino individual by a group of pigmented catfish.

    Directory of Open Access Journals (Sweden)

    Ondřej Slavík

    Full Text Available Physiological and behavioural constraints hinder albino individuals. Albino animals are rare in the wild; this trait is associated with easy detection by predators, non-native or damaged environments, and exclusively aphotic environments in total darkness. The social aspect of albinism is reported only for human beings, and the effect is distinguishable in time and space when social benefits, are used to a limited the extent. Thus far, the social consequences of albinism for animals remain unknown. We used socially established groups of the pigmented catfish, (Silurus glanis, to observe space and temporal distance detachment of albino specimens in laboratory conditions. The albino fish were separated at larger distances from the group than pigmented individuals with the same social status determined by familiarity, and this asymmetry also varied in time. Albinism-related ostracism results in a solitary existence, usually followed by enhanced predation risk. The motivation for an individual's exclusion from a group appears to be the avoidance of the predation risk that increases not only for an odd individual but also for conspecifics within a group. Our findings indicate a role for albinism in behavioural processes related to sociality in a group of conspecifics.

  11. Author Details

    African Journals Online (AJOL)

    Jenkins, T. Vol 89, No 1 (2012) - Articles Types of albinism in the black Southern Africa population. Abstract PDF. ISSN: 0012-835X. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of Use · Contact AJOL ...

  12. The oculocerebral syndrome in association with generalised ...

    African Journals Online (AJOL)

    A 14-year-old girl with generalised hypopigmentation, mental retardation, abnormal movements, and ocular anomalies is described. It is suggested that she represents a further case of oculocerebral albinism, a rare autosomal recessive condition. Reference is made to previous similar cases.

  13. Detection of Steroid Sulfatase Gene Deletion

    African Journals Online (AJOL)

    rme

    reported a patient with XO Turner syndrome and ichthyosis which by the pedigree and by its clinical features was X-Linked. Clincial manifestations of microdeletion of Xp22.3 include ichthyosis, chondrodysplasia punctata, hypogonadotropic hypogonandism, anosmia, ocular albinism, short stature and mental retardation.8 ...

  14. Download this PDF file

    African Journals Online (AJOL)

    cptldesign4

    Among the congenital anomalies the majority. (81%) were due to retinopathies, followed by Nystagmus/albinism (16%) and aphakia. (3%). Cataract, strabismus and ptosis were not observed among the screened schoolchildren. Discussion. A higher prevalence (9.5%) of low vision was observed among school children in ...

  15. ORIGINAL ARTICLES

    African Journals Online (AJOL)

    usually associated with genetic disorders such as albinism or xeroderma pigmentosum (skin cancers), or schistosomiasis. (carcinoma of the bladder). Similar epidemiological observations were made in Zimbabwe and Kenya.... The overall incidence of MNs in our study appears to be low; however the study included only ...

  16. Author Details

    African Journals Online (AJOL)

    Kerr, R. Vol 89, No 1 (2012) - Articles Types of albinism in the black Southern Africa population. Abstract PDF. ISSN: 0012-835X. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of Use · Contact AJOL ...

  17. Natural markings and their use in determining calving intervals in ...

    African Journals Online (AJOL)

    Since 1979, 245 right whales (excluding calves) have been individually identified in aerial photographs taken annually on the South African coast, using variations in dorsal pigmentation and callosity patterns. White or grey blazes (or both) occurred dorsally in 16,7% of individuals, one form of which (partial albinism) ...

  18. Chediak-Higashi syndrome: brain MRI and MR spectroscopy manifestations

    Energy Technology Data Exchange (ETDEWEB)

    Lolli, Valentina; Soto Ares, Gustavo; Pruvo, Jean-Pierre [Roger Salengro Hospital, CHRU, Neuroradiology Department, Lille (France); Abou Chahla, Wadih [Jeanne de Flandre Hospital, Pediatric Hematology and Oncology Department, Lille (France); Jissendi-Tchofo, Patrice [University Hospital Saint-Pierre, Radiology Department - Pediatric Neuroradiology Section, Brussels (Belgium)

    2015-08-15

    Chediak-Higashi syndrome is a rare inherited metabolic disorder characterized by partial oculocutaneous albinism, immunodeficiency, and neurological dysfunction. We present the brain magnetic resonance imaging (MRI) and MR spectroscopy (MRS) findings obtained during the accelerated phase of the disorder in an 8-year-old. The brain MRI manifestations at recurrences 15 months and 24 months later are reported as well. (orig.)

  19. South African congenital disorders data, 2006 - 2014

    African Journals Online (AJOL)

    This article reports on the data emanating from the surveillance system implemented by the NDoH from 2006 to ... syndrome, albinism, microcephaly, isolated cleft lip and/or palate and isolated hydrocephalus.[9] In 2005, the National ... This open access article is distributed under. Creative Commons licence CC-BY-NC 4.0.

  20. Effect of visual impairment on goal-directed aiming movements in children.

    NARCIS (Netherlands)

    Reimer, A.M.; Cox, R.F.A.; Boonstra, F.N.; Smits-Engelsman, B.C.M.

    2008-01-01

    This study investigated potential differences in motor control between children with a visual impairment (diagnosed albinism; n=11, mean age 8y 4mo [SD 7mo]; seven males, four females,) and children with normal vision (n=11, mean age 8y 4mo [SD 7mo]; six males, five females). Mean near visual acuity

  1. Effect of visual impairment on goal-directed aiming movements in children

    NARCIS (Netherlands)

    Reimer, A.M.; Cox, R.F.A.; Boonstra, F.N.; Smits-Engelsman, B.C.M.

    2008-01-01

    This study investigated potential differences in motor control between children with a visual impairment (diagnosed albinism; n=11, mean age 8y 4mo [SD 7mo]; seven males, four females,) and children with normal vision (n=11, mean age 8y 4mo [SD 7mo]; six males, five females). Mean near visual acuity

  2. Regional Dermatology Training Centre in Moshi, Tanzania ...

    African Journals Online (AJOL)

    governmental organisation (NGO) that focuses on albinism. The latest African country to provide medical trainees for this programme is Malawi, a country currently without a specialist dermatologist. Professors Henning Grossman and John Masenga in the Regional. Dermatology Training Centre (RDTC) library.

  3. 75 FR 77884 - Government-Owned Inventions; Availability for Licensing

    Science.gov (United States)

    2010-12-14

    ... disease, obesity, non-insulin-dependent diabetes mellitus, skin disease, hypertension, neurological... applications. Pyruvate Kinase M2 Activators for the Treatment of Cancer Description of Invention: NIH.... Nitisinone for Treatment of Oculocutaneous/Ocular Albinism and for Increasing Pigmentation Description of...

  4. Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations

    DEFF Research Database (Denmark)

    Meeths, Marie; Bryceson, Yenan T; Rudd, Eva

    2010-01-01

    Griscelli syndrome type 2 (GS2) is an autosomal-recessive immunodeficiency caused by mutations in RAB27A, clinically characterized by partial albinism and haemophagocytic lymphohistocytosis (HLH). We evaluated the frequency of RAB27A mutations in 21 unrelated patients with haemophagocytic syndrom...

  5. Fulltext PDF

    Indian Academy of Sciences (India)

    2014-01-27

    Jan 27, 2014 ... Cave populations have no use for eyes and pigmentation and, consequently, are eyeless and albino; whereas surface populations have eyes and are pigmented. The two populations can interbreed, and mutations underlying eye degeneration and albinism in the troglodytes segregate in the progeny.

  6. Infantile Hemophagocytic Lymphohistiocytosis in a Case of Chediak-Higashi Syndrome Caused by a Mutation in the LYST/CHS1 Gene Presenting With Delayed Umbilical Cord Detachment and Diarrhea

    DEFF Research Database (Denmark)

    Nielsen, Christian; Agergaard, Charlotte N; Jakobsen, Marianne A

    2015-01-01

    A 2-month-old female infant, born to consanguineous parents, presented with infections in skin and upper respiratory tract. She was notable for delayed umbilical cord detachment, partial albinism, and neurological irritability. Giant granules were present in white blood cells. The intracellular p...

  7. The prevalence of paediatric skin conditions at a dermatology clinic ...

    African Journals Online (AJOL)

    Morphea. Pityriasis rosea. Papular urticaria. Nappy dermatitis. Albinism. Infantile haemangioma. Impetigo. Acne vulgaris. Dermatophytosis. Molluscum contagiosum. Vitiligo. Seborrhoeic dermatitis. Viral warts. Fig. 1. Most prevalent skin disorders seen among the study population. Table 2. Distribution of most common skin ...

  8. Browse Title Index

    African Journals Online (AJOL)

    Items 551 - 600 of 4238 ... Vol 103, No 12 (2013), Biology and genetics of oculocutaneous albinism and vitiligo – common pigmentation disorders in southern Africa, Abstract PDF ... Vol 105, No 9 (2015), Bone marrow aspirate microscopy v. bone marrow trephine biopsy microscopy for detection of Mycobacterium tuberculosis ...

  9. Minutes of the Explosives Safety Seminar (25th) Held in Anaheim, California on 18-20 August 1992. Volume 2

    Science.gov (United States)

    1992-08-20

    exposure analysis: - persons outdoors, like on a free field, in a forest, on a sports ground, in a garden or on a mountain trail, - persons in houses...COAST GUARD MR. ADAMS ROBERT THE BOEING COMPANY CAPTAIN ADOLF DAVID HQ, PACAF/SEW MR. ALBIN RICHARD COMMANDER, US ARMY MSGT ALT JEFF 3246 EQUIPMENT

  10. JPRS Report. Soviet Union: International Affairs

    Science.gov (United States)

    1988-04-07

    republic and foreign states in the field of culture, science and technology, education, health, sports , and tourism is also within the jurisdiction of...were ready to accept as a model for the "Pacific community." American and Australian political scientists R. Meyers and G. Albins - kiy, for example

  11. Kimball, Nebraska: Economic and Community Development Plan

    Science.gov (United States)

    1985-05-20

    hobby or special interest shops downtown are The Book 3 Shack (second hand books) and the sporting goods store. From our qualitative analysis o.f...in the city of Kimball. The I service area for this hospital encompasses Kimball County and extends into eastern Wyorrng around Pine Bluffs and Albin

  12. Cutaneous Cancers in Nigerian Albinos: A Review of 22 Cases

    Directory of Open Access Journals (Sweden)

    Oluwafemi Olasupo Awe

    2018-01-01

    Full Text Available Context: Albinism is an inherited disorder of hypopigmentation involving the skin, eyes, and hair. This disorder results in the absence or reduction in melanin production. There are two main types of albinism which are ocular albinism and oculocutaneous albinism. It could also be classified as syndromic or nonsyndromic the melanin, which protects from the harmful effect of ultraviolet radiation of the sun on the normal skin, is deficient in the albino, predisposing them more, to cutaneous malignancies. Aim: This study is to highlight the epidemiology of cutaneous cancers in albinos in sub-urban Nigeria. Methodology: This is a retrospective review of all albinos with histological diagnoses of cutaneous malignancies that presented to Irrua Specialist Teaching Hospital, Irrua Edo State, Nigeria between September 2010 and August 2016. The following details were extracted from the patients' case-notes, operation register, and the histopathology register. These data include age, gender, site of the lesion, the diagnosis, no of lesions excised, and duration of the lesion (s. These were collated and analyzed using SPSS version 22. Results: There were 22 albinos with histopathologically diagnosed cutaneous malignancies. There were 11 males and 11 females with male:female of 1. The age range is from 25 to 55 years with the mean of 34.68. Conclusion: Albinism is one of the most common causes of cutaneous malignancies, and majority of them present with locally advanced lesions that will need excision biopsy resulting in disfigurement. This problem can be prevented in many cases with proper community education, support, and free health care. There is also need for them to present early whenever they noticed any skin changes.

  13. Chédiak-Higashi syndrome: presentation of seven cases

    Directory of Open Access Journals (Sweden)

    Eugénia Maria Grilo Carnide

    Full Text Available CONTEXT: Chédiak-Higashi Syndrome (CHS is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules, and oculocutaneous albinism. OBJECTIVE: To describe clinical and laboratory findings from CHS patients. DESIGN: Case report. SETTING: The patients were admitted into the Allergy and Immunology Unit of the Instituto da Criança, a tertiary public care institution. CASES REPORT: Seven patients had oculocutaneous albinism, recurrent infections and giant cytoplasmic granules in the leukocytes. One patient had low IgG levels and three showed impaired bactericidal activity of neutrophils. Six patients died of infectious complications during the accelerated phase. Therapy included ascorbic acid and antibiotics. Chemotherapy was used for the accelerated phase in two patients. Bone marrow transplantation (BMT was proposed for one patient. DISCUSSION: The authors emphasize the need for early diagnosis and therapy of CHS. BMT should be indicated before the accelerated phase of the disease has developed.

  14. Differences in MITF gene expression and histology between albino and normal sea cucumbers ( Apostichopus japonicus Selenka)

    Science.gov (United States)

    Zhao, Heling; Yang, Hongsheng; Zhao, Huan; Liu, Shilin; Wang, Tianming

    2012-01-01

    Albino Apostichopus japonicus occur both in the wild and in captivity. The offspring of albino A. japonicus also suffer from albinism. The formation of melanin in the melanocytes is dependant on microphthalmia-associated transcription factor (MITF). To investigate the role of MITF in controlling albinism, we cloned the full-length MITF cDNA from A. japonicus and compared MITF mRNA expression in albino and normal A. japonicus. In addition, we used light and electron microscopy to compare histological samples of normal and albino A. japonicus. The body wall of albino adults was characterized by significantly lower levels of MITF expression and lower numbers of epidermal melanocytes, which also contained less melanin. In albino juvenile offspring, MITF expression levels were significantly lower 32 d after fertilization and there were fewer, and less developed, epidermal melanocytes. Thus, we conclude that albino A. japonicus have fewer melanocytes and a reduced ability to synthesize melanin, likely because of lower expression of MITF.

  15. Hermansky-Pudlak Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Ilhami Berber

    2014-01-01

    Full Text Available Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrated using electron microscopy. This patient was (slowly administered one unit of a platelet suspension, and his bleeding decreased considerably. Conclusion. This case shows that Hermansky-Pudlak syndrome should be considered in the differential diagnosis of a patient presenting with bleeding diathesis, when the clinical presentation also includes oculocutaneous albinism and visual problems.

  16. ALBINISMO EM ZORRILHO, CONEPATUS CHINGA (MAMMALIA, CARNIVORA, MEPHITIDAE)

    OpenAIRE

    Mello, Luciano Moura de; Universidade Federal do Pampa, Núcleo de Genômica e Ecologia Molecular, Avenida Antônio Trilha, nº1847 - São Clemente, Cep. 97300-000, São Gabriel - RS, Brasil.; Corrêa, Luiz Liberato Costa; Universidade do Vale do Rio dos Sinos, PPG em Biologia, Laboratório de Ornitologia e Animais Marinhos. Avenida Unisinos, Bairro Cristo Rei, nº 995, Cep - 93022240, São Leopoldo, RS, Brasil.; Oliveira, Stefan Vilges de; Universidade de Brasília, PPG em Medicina Tropical. Darcy Ribeiro, s/n , Asa Norte, Cep - 70910-900 Brasília, DF, Brasil.

    2016-01-01

    The present report describes a case of albinism in Conepatus chinga in a countryside area of Uruguay, thus enhancing disclosure about color mutation of Neotropical mammals. O presente relato descreve episódio de albinismo em Conepatus chinga em uma área rural no Uruguai, contribuindo assim com a divulgação acerca de mutações cromáticas em mamíferos neotropicais.

  17. Two types of albino mutants in desert and migratory locusts are caused by gene defects in the same signaling pathway.

    Science.gov (United States)

    Sugahara, Ryohei; Tanaka, Seiji; Jouraku, Akiya; Shiotsuki, Takahiro

    2017-04-15

    Albinism is caused by mutations in the genes involved in melanin production. Albino nymphs of Locusta migratoria and Schistocerca gregaria reared under crowded conditions are uniformly creamy-white in color. However, nothing is known about the molecular mechanisms underlying this phenomenon in locusts. The albino strain of L. migratoria is known to lack the dark-color-inducing neuropeptide corazonin (Crz). In this study, we report that this albino strain has a 10-base-pair deletion in the gene LmCRZ, which encodes Crz. This mutation was found to cause a frame-shift, resulting in a null mutation in Crz. On the other hand, the albino strain of S. gregaria is known to have an intact Crz. This strain was found to possess a single-nucleotide substitution in the middle of the Crz receptor-encoding gene, SgCRZR, which caused a nonsense mutation, resulting in a truncated receptor. Silencing of SgCRZR in wild-type S. gregaria nymphs greatly reduced the area and intensity of their black patterning, suggesting that the functional defect of SgCRZR likely causes the albinism. The expression level of SgCRZR in the albino S. gregaria was comparable to that in the wild type. Unlike the wild type, the albino strain of this locust did not show a phase-dependent shift in a morphometric trait controlled by Crz. From these results, we conclude that the mutations in LmCRZ and SgCRZR are responsible for the albinism in L. migratoria and S. gregaria, respectively, indicating that the two types of albinism are caused by different genetic defects in the same Crz signaling pathway. Copyright © 2017 Elsevier B.V. All rights reserved.

  18. Radioprotection by dimethyl sulfoxide on two biological system

    International Nuclear Information System (INIS)

    Bernardes, D.M.L.; Villavicencio, A.L.C.H.; Del Mastro, N.L.

    1990-01-01

    The effects of dimethyl sulfoxide treatment on two biological systems are examined: a) In vivo, the level of albinic mouse survive from IPEN, when irradiated with 9 Gy of 60 Co., 1 hour after the injection ip of DMSO 0,025M. b) In vivo, molecular level, when DMSO 1M, is added 10 min. before the irradiation with 25.000 Gy of 60 Co, from an aqueous solution of proteins from crystalline bovine. (C.G.C.) [pt

  19. Do you know this syndrome? Chediak-Higashi syndrome.

    Science.gov (United States)

    Fantinato, Giovana Tadéia; Cestari, Silmara da Costa Pereira; Afonso, João Paulo Junqueira Magalhães; Sousa, Letícia Siqueira; Enokihara, Mílvia Maria Simões e Silva

    2011-01-01

    Chediak-Higashi syndrome is characterized by varying degrees of oculocutaneous albinism, recurrent infections, bleeding disorders and variable neurological involvement. The treatment consists of bone marrow transplantation, which corrects the immunologic and hematologic defects. Untreated patients die as the result of bacterial infections or develop "accelerated phase" lymphoproliferation. We present a case of Chediak-Higashi syndrome and discuss the clinical and laboratorial features that determine its diagnosis.

  20. Pseudo chediak-higashi granules in acute lymphoblastic leukemia: a rare entity.

    Science.gov (United States)

    Agrawal, Pallavi; Kumar, Narender; Sharma, Prashant; Varma, Subhash; Varma, Neelam

    2014-09-01

    Pseudo-Chediak-Highashi granules are giant cytoplasmic inclusions commonly encountered in myeloblasts or other myeloid precursors in acute myeloid leukemia and myelodysplastic syndromes. They derive their name from the inherited Chediak-Higashi syndrome that presents with oculocutaneous albinism, chronic infections and platelet dense granule deficiency. We report possibly the third case in world literature where these granules were seen in the blast cells of acute lymphoblastic leukemia in a 15-year-old male.

  1. Disease: H01187 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H01187 Tietz syndrome; Albinism-deafness syndrome Tietz syndrome is an autosomal d...ominant syndrome of hypopigmentation and deafness. A missense mutation has been found in the basic region of...y PM, Kenyon JB, Hoover D ... TITLE ... Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. ... JOURNAL ... J Med Genet 37:446-8 (2000) DOI:10.1136/jmg.37.6.446 ...

  2. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  3. Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.

    OpenAIRE

    Pillers, D A; Towbin, J A; Chamberlain, J S; Wu, D; Ranier, J; Powell, B R; McCabe, E R

    1990-01-01

    Aland Island Eye Disease (AIED) is an X-linked form of ocular hypopigmentation--also known as Forsius-Eriksson, or type 2, ocular albinism--in which affected males demonstrate subnormal visual acuity, protanomalous red-green colorblindness, axial myopia, astigmatism, hypoplasia of the fovea, and hypopigmentation of the fundus. A patient has previously been described who, in addition to AIED, manifested a contiguous gene syndrome which included congenital adrenal hypoplasia (AHC), glycerol kin...

  4. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma

    OpenAIRE

    Duffy, David L.; Zhao, Z. Z.; Sturm, Richard A.; Hayward, Nicholas K.; Martin, Nicholas G.; Montgomery, Grant W.

    2009-01-01

    We have previously described the role of red hair (Melanocortin 1 Receptor, MC1R) and blue eye (Oculocutaneous Albinism Type 2, OCA2) gene polymorphisms in modulating risk of cutaneous malignant melanoma (CMM) in a highly sun-exposed population of European descent. A number of recent studies, including genome-wide association studies (GWAS), have identified numerous polymorphisms controlling human hair, eye and skin colour. In this paper, we test a selected set of polymorphisms in pigmentatio...

  5. MX Siting Investigation. Geotechnical Evaluation Conterminous United States. Volume I. Coarse Screening.

    Science.gov (United States)

    1977-06-01

    which to initiate more detailed Intermediate and Fine Screening/ Characterization activities . With concurrence by SAMSO our established approach was to... Albin , D.R., Stephens, J.W., and Edds, V., 1967, Ground- water levels in deposits of Quaternary and Tertiary age, Spring 1965: U.S. Geol. Survey...Fenneman, N., 1946, Physical dimensions of the U.S.: U.S. Geol. Survey. Fischer, W., McGowen, J., Brown, L., and Groat, C., 1972, Environmental geologic

  6. Multispectral Coatings

    Science.gov (United States)

    2010-01-01

    the nanoparticles do not actively participate in the curing, these discrete particles can act as defects, reducing the mechanical strength of the...Macromolecular Chemistry and Physics 2005, 206, 95-101. 16. Grubbs, R. B., Roles of polymer ligands in nanoparticle stabilization. Polymer Reviews 2007, 47...Journal of Colloid and Interface Science 2002, 250, 478- 483. 18. Allen, C. G.; Baker, D. J.; Albin , J. M.; Oertli, H. E.; Gillaspie, D. T.; Olson, D. C

  7. Flood Control, Roseau River, Roseau and Kittson Counties, Minnesota. Final Environmental Impact Statement. Supplement.

    Science.gov (United States)

    1981-09-01

    dureau of Sport Fisheries and Wildlife Geological Survey National Park Service U.S. Department of State, Office of Canadian Affairs U.S. Department of...1978. Please forward the comments to the Corps of Engineers as soon as possible. Sincerely Yours, Donald R. Albin District Chief cc: VCol. F.T. Gay...may also create a signifi- cant water quality and fisheries impact. The Roseau River is an excel- lent sport fishery river and is classified as a 2B

  8. Takayasu's arteritis: A rare cause of cardiac death in a Caucasian teenage female patient

    OpenAIRE

    Saïd, Salah; Koetsveld-Baart, J.; Hollander, Jan

    1997-01-01

    textabstractA Caucasian teenage Dutch schoolgirl with known chronic low visual acuity and albinism, presented with frank acute pulmonary oedema, died after 1 h of cardio-pulmonary resuscitation for bradyarrhythmia and cardiac arrest. Two weeks prior to presentation, during sport training, she complained of oppressive chest pain on exertion accompanied with vomiting without any other systemic symptoms. Post-mortem examination revealed supravalvular stenosis of the pulmonary trunk and ascending...

  9. Environmental Inventory Report. East St. Louis and Vicinity, Cahokia Canal Drainage Area, Madison and St. Clair Counties, Illinois. Volume 3.

    Science.gov (United States)

    1981-05-01

    1890’s. In terms of total poundage they are probably the most important fish in the area. Although not highly regarded as a sport fish they are an...normal black bullheads. This is the only report of albinism in this species. Channel catfish is a wide ranging species often cultivated as food fish...They are a desirable sport fish for many anglers though they lack the promotional glamour associated with largemouth bass. They were present, as

  10. JPRS Report, East Europe

    Science.gov (United States)

    1990-03-27

    and technical school system, in youth clubs and bars, in Skilled workers 50% camps of the Society for Sports and Technology (GST) Technical workers 2...some powerful for- ened by shooting from air guns and sport rifles, but by eign concern which might purchase part of a Polish rockets and modern air...thus, Albin of undersecretary of state to women (Halina Goralska Siwak among others has returned from Libya. and Janina Starega-Piasek), Janina

  11. Clinical evaluation and molecular screening of a large consecutive series of albino patients.

    Science.gov (United States)

    Mauri, Lucia; Manfredini, Emanuela; Del Longo, Alessandra; Veniani, Emanuela; Scarcello, Manuela; Terrana, Roberta; Radaelli, Adriano Egidio; Calò, Donata; Mingoia, Giuseppe; Rossetti, Antonella; Marsico, Giovanni; Mazza, Marco; Gesu, Giovanni Pietro; Cristina Patrosso, Maria; Penco, Silvana; Piozzi, Elena; Primignani, Paola

    2017-02-01

    Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. In this study we recruited 321 albino patients and screened them for the genes known to cause oculocutaneous albinism (OCA1-4 and OCA6) and ocular albinism (OA1). Our purpose was to detect mutations and genetic frequencies of the main causative genes, offering to albino patients an exhaustive diagnostic assessment within a multidisciplinary approach including ophthalmological, dermatological, audiological and genetic evaluations. We report 70 novel mutations and the frequencies of the major causative OCA genes that are as follows: TYR (44%), OCA2 (17%), TYRP1 (1%), SLC45A2 (7%) and SLC24A5 (<0.5%). An additional 5% of patients had GPR143 mutations. In 19% of cases, a second reliable mutation was not detected, whereas 7% of our patients remain still molecularly undiagnosed. This comprehensive study of a consecutive series of OCA/OA1 patients allowed us to perform a clinical evaluation of the different OCA forms.

  12. An intracellular anion channel critical for pigmentation

    Science.gov (United States)

    Bellono, Nicholas W; Escobar, Iliana E; Lefkovith, Ariel J; Marks, Michael S; Oancea, Elena

    2014-01-01

    Intracellular ion channels are essential regulators of organellar and cellular function, yet the molecular identity and physiological role of many of these channels remains elusive. In particular, no ion channel has been characterized in melanosomes, organelles that produce and store the major mammalian pigment melanin. Defects in melanosome function cause albinism, characterized by vision and pigmentation deficits, impaired retinal development, and increased susceptibility to skin and eye cancers. The most common form of albinism is caused by mutations in oculocutaneous albinism II (OCA2), a melanosome-specific transmembrane protein with unknown function. Here we used direct patch-clamp of skin and eye melanosomes to identify a novel chloride-selective anion conductance mediated by OCA2 and required for melanin production. Expression of OCA2 increases organelle pH, suggesting that the chloride channel might regulate melanin synthesis by modulating melanosome pH. Thus, a melanosomal anion channel that requires OCA2 is essential for skin and eye pigmentation. DOI: http://dx.doi.org/10.7554/eLife.04543.001 PMID:25513726

  13. Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome

    Directory of Open Access Journals (Sweden)

    Fuminori Tanabe

    2010-01-01

    Full Text Available Chediak-Higashi syndrome (CHS is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, recurrent bacterial infections and progressive neurological dysfunction. We demonstrate novel heterogenous mutations of CHS1, the responsive gene of CHS, identified in five Japanese patients with CHS. Patients 1, 2, and 3 were siblings, and they had albinism of the skin and hair. They all had a heterogenous two-base deletion (c.5541-5542 del AA, p.Q1847fsX1850 in exon 18. Patient 4 had a heterogenous single-base insertion (c.3944-3945 ins C, p.T1315fsX1331 in exon 10. The patient exhibited severe early-onset phenotype and suffered from hemophagocytic lymphohistiocytosis. Patient 5 had two heterogenous nonsense mutations; c.7982C>G, p.S2661X in exon 30 and c.8281A>T, p.R2761X in exon 31. The patient suffered from infections in childhood and had visual disturbance and albinism of the skin and hair. The CHS1 mutations described here have not been reported previously.

  14. Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome

    Science.gov (United States)

    Tanabe, Fuminori; Kasai, Hirotake; Morimoto, Michiko; Oh, Shigeharu; Takada, Hidetoshi; Hara, Toshiro; Ito, Masahiko

    2010-01-01

    Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, recurrent bacterial infections and progressive neurological dysfunction. We demonstrate novel heterogenous mutations of CHS1, the responsive gene of CHS, identified in five Japanese patients with CHS. Patients 1, 2, and 3 were siblings, and they had albinism of the skin and hair. They all had a heterogenous two-base deletion (c.5541-5542 del AA, p.Q1847fsX1850) in exon 18. Patient 4 had a heterogenous single-base insertion (c.3944-3945 ins C, p.T1315fsX1331) in exon 10. The patient exhibited severe early-onset phenotype and suffered from hemophagocytic lymphohistiocytosis. Patient 5 had two heterogenous nonsense mutations; c.7982C>G, p.S2661X in exon 30 and c.8281A>T, p.R2761X in exon 31. The patient suffered from infections in childhood and had visual disturbance and albinism of the skin and hair. The CHS1 mutations described here have not been reported previously. PMID:21209802

  15. Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay

    Directory of Open Access Journals (Sweden)

    Hamel Christian

    2003-01-01

    Full Text Available Abstract Background X-linked ocular albinism type 1 (OA1 is caused by mutations in OA1 gene, which encodes a membrane glycoprotein localised to melanosomes. OA1 mainly affects pigment production in the eye, resulting in optic changes associated with albinism including hypopigmentation of the retina, nystagmus, strabismus, foveal hypoplasia, abnormal crossing of the optic fibers and reduced visual acuity. Affected Caucasian males usually appear to have normal skin and hair pigment. Results We identified three previously undescribed mutations consisting of two intragenic deletions (one encompassing exon 6, the other encompassing exons 7–8, and a point mutation (310delG in exon 2. We report the development of a new method for diagnosis of heterozygous deletions in OA1 gene based on measurement of gene copy number using real-time quantitative PCR from genomic DNA. Conclusion The identification of OA1 mutations in families earlier reported as families with hereditary nystagmus indicate that ocular albinism type 1 is probably underdiagnosed. Our method of real-time quantitative PCR of OA1 exons with DMD exon as external standard performed on the LightCycler™ allows quick and accurate carrier-status assessment for at-risk females.

  16. A Study On The Frequency Of Different Types Of Optical Low Vision Aids Prescribed For Low Vision Patients Examined In The Clinic Of Optometry, Faculty Of Rehabilitation Sciences Shahid Beheshti University Of Medical Sciences, Tehran, 1387

    Directory of Open Access Journals (Sweden)

    Mohammad Ghassemi Broumand

    2012-04-01

    Full Text Available Background and Aim: Different diseases can be the cause of low vision. In the case of low vision, visual acuity with conventional optical devices such as glasses and contact lenses is between” 20/70 to 20/200”. To improve the visual performance in these patients, low vision aids are prescribed.The types of prescribed low vision aids vary in different diseases. The purpose of this study is to determine the type and frequency of optical aids prescribed for low vision patients examined in optometry clinic of Rehabilitation faculty of shahid Beheshti University in 1387. Materials and Methods: In this retrospective cross-sectional study, 204 low vision patients went under investigation. In the present study variables including type and rate of refractive error, visual acuity with the best correction, type of diseases and type of prescribed optical low vision aids were investigated.Results: The frequency of prescribed distance glasses in diabetic retinopathy was 97%, age related macular degeneration 86.2%, Stargarts 92%, retinitis pigmentosa 86.4% and albinism 88.2%, Also the frequency of prescribed microscope in diabetic retinopathy was 81.82% , age related macular degeneration 48.27%, Stargarts 40% , retinitis pigmentosa 35.3% , albinism 35.3% and the frequency of prescribed magnifier in diabetic retinopathy was18.18%, age related macular degeneration 24.12% , Stargarts 52%, retinitis pigmentosa18.18% and albinism 29.4%.Conclusion: In many low vision conditions, it is more suitable to prescribe distance glasses rather than telescope. In this study the distance glass with the frequency of 84.8% is seen more acceptable in comparison with the telescope with the frequency of 41.7%. Among near optical low vision aids, microscope with the frequency of 50.5% is more accepted by the patients compared to magnifier with the frequency of 26% and CCTV with the frequency of 0.50%.

  17. L-DOPA is an endogenous ligand for OA1.

    Directory of Open Access Journals (Sweden)

    Vanessa M Lopez

    2008-09-01

    Full Text Available Albinism is a genetic defect characterized by a loss of pigmentation. The neurosensory retina, which is not pigmented, exhibits pathologic changes secondary to the loss of pigmentation in the retina pigment epithelium (RPE. How the loss of pigmentation in the RPE causes developmental defects in the adjacent neurosensory retina has not been determined, but offers a unique opportunity to investigate the interactions between these two important tissues. One of the genes that causes albinism encodes for an orphan GPCR (OA1 expressed only in pigmented cells, including the RPE. We investigated the function and signaling of OA1 in RPE and transfected cell lines. Our results indicate that OA1 is a selective L-DOPA receptor, with no measurable second messenger activity from two closely related compounds, tyrosine and dopamine. Radiolabeled ligand binding confirmed that OA1 exhibited a single, saturable binding site for L-DOPA. Dopamine competed with L-DOPA for the single OA1 binding site, suggesting it could function as an OA1 antagonist. OA1 response to L-DOPA was defined by several common measures of G-protein coupled receptor (GPCR activation, including influx of intracellular calcium and recruitment of beta-arrestin. Further, inhibition of tyrosinase, the enzyme that makes L-DOPA, resulted in decreased PEDF secretion by RPE. Further, stimulation of OA1 in RPE with L-DOPA resulted in increased PEDF secretion. Taken together, our results illustrate an autocrine loop between OA1 and tyrosinase linked through L-DOPA, and this loop includes the secretion of at least one very potent retinal neurotrophic factor. OA1 is a selective L-DOPA receptor whose downstream effects govern spatial patterning of the developing retina. Our results suggest that the retinal consequences of albinism caused by changes in melanin synthetic machinery may be treated by L-DOPA supplementation.

  18. Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations

    DEFF Research Database (Denmark)

    Meeths, Marie; Bryceson, Yenan T; Rudd, Eva

    2010-01-01

    Griscelli syndrome type 2 (GS2) is an autosomal-recessive immunodeficiency caused by mutations in RAB27A, clinically characterized by partial albinism and haemophagocytic lymphohistocytosis (HLH). We evaluated the frequency of RAB27A mutations in 21 unrelated patients with haemophagocytic syndromes...... without mutations in familial HLH (FHL) causing genes or an established diagnosis of GS2. In addition, we report three patients with known GS2. Moreover, neurological involvement and RAB27A mutations in previously published patients with genetically verified GS2 are reviewed....

  19. The Beginnings of Photography in Central Europe. Friedrich Franz and the First Daguerreotypes in Brno

    Czech Academy of Sciences Publication Activity Database

    Trnková, Petra

    2015-01-01

    Roč. 39, č. 2 (2015), s. 121-141 ISSN 0308-7298 R&D Projects: GA ČR(CZ) GPP409/11/P834 Institutional support: RVO:68378033 Keywords : photography * 19th century * daguerreotype * portraiture * Friedrich Franz * Franz Xaver Braumüller * Anton Gindl * Albin Heinrich * Cyril Napp * Josef Carl Lauer * Carl Schuh * Josef Wawra * Andreas Ettingshausen * Voigtländer metal camera * Ackerbaugesellschaft * Brno * Moravia * early photography in Central Europe Subject RIV: AL - Art, Architecture, Cultural Heritage

  20. Generation of Hermansky–Pudlak Syndrome Type 1 (HPS1 induced pluripotent stem cells (iPSCs

    Directory of Open Access Journals (Sweden)

    Jean Ann Maguire

    2016-03-01

    Full Text Available Hermansky–Pudlak syndrome (HPS is a rare autosomal recessive disorder characterized by deficiencies in lysosome-related organelles such as melanosomes and platelet-dense granules. The disorder is classified into nine different subtypes (HPS1–HPS9 based on genetic mutations in 9 unique genes. Here we describe the generation of an HPS1 iPSC line (CHOPHPS1 using a Cre-excisable polycistronic STEMCCA lentivirus. This line was derived from human fibroblasts isolated from a patient carrying a duplicative mutation in the HPS1 gene. The patient presented with oculocutaneous albinism, early pulmonary fibrosis, and hemorrhagic diathesis.

  1. Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinsm (OCA)

    Energy Technology Data Exchange (ETDEWEB)

    Tripathi, R.K.; Droetto, S.; Strunk, K.M.; Holmes, S.A.; Spritz, R.A. (Univ. of Wisconsin, Madison, WI (United States)); Bundey, S.; Musarella, M.A.

    1993-12-01

    Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment. Type I (tyrosinase-deficient) OCA results from mutations of the tyrosinase gene (TYR gene) encoding tyrosinase, the enzyme that catalyzes the first two steps of melanin biosynthesis. Mutations of the TYR gene have been identified in a large number of patients, most of Caucasian ethnic origin, with various forms of type I OCA. The authors present an analysis of the TYR gene in eight Indo-Pakistani patients with type I OCA. The authors describe four novel TYR gene mutations and a fifth mutation previously observed in a Caucasian patient. 16 refs., 6 figs.

  2. La historiografía francesa de los años noventa

    Directory of Open Access Journals (Sweden)

    Abel Ignacio López

    1999-01-01

    Full Text Available La historiografía francesa de los años noventa Bernard Lepetit (director. Les formes de l'experience. Une autre histoire sociale. París, Albin Michel, 1995. El libro dirigido por Bernard Lepetit resultó de una serie de jornadas de discusión que organizó, en octubre de 1993, El Centro de Investigaciones Históricas de la Escuela de Altos Estudios en Ciencias Sociales. Puede decirse que con este libro se da respuesta un par de editoriales de la revista Annales.

  3. 3D-videokuvaus : Stereoskooppisuuden huomioiminen lyhytelokuvan kuvaamisessa

    OpenAIRE

    Hotokka, Sari

    2012-01-01

    Opinnäytetyön tavoite on kertoa 3D-kuvaamisen menetelmistä ja tekniikasta sekä tutkia ja havainnoida stereoskooppista 3D:tä. Opinnäytteen toiminnallisessa osiossa toimin stereografina ja kuvaajana stereoskooppisessa Herra Albin -lyhytelokuvassa. Noin kymmenenminuuttisessa lyhytelokuvassa testasin mahdollisimman paljon 3D:n mahdollisuuksia sekä rajoituksia. Opinnäytteen raportissa syvennytään käsittelemään 3D:n termistöä ja stereoskooppisen videokuvan tuottamisen perusteita. Työssä kerrota...

  4. Proteomic analysis of young leaves at three developmental stages in an albino tea cultivar

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    Li Juan

    2011-08-01

    Full Text Available Abstract Background White leaf No.1 is a typical albino tea cultivar grown in China and it has received increased attention in recent years due to the fact that white leaves containing a high level of amino acids, which are very important components affecting the quality of tea drink. According to the color of its leaves, the development of this tea cultivar is divided into three stages: the pre-albinistic stage, the albinistic stage and the regreening stage. To understand the intricate mechanism of periodic albinism, a comparative proteomic approach based on two-dimensional electrophoresis (2-DE and mass spectrometry was adopted first time to identify proteins that changed in abundance during the three developmental periods. Results The 2-DE results showed that the expression level of 61 protein spots varied markedly during the three developmental stages. To analyze the functions of the significantly differentially expressed protein spots, 30 spots were excised from gels and analyzed by matrix-assisted laser desorption ionization-time of flight-tandem mass spectrometry. Of these, 26 spots were successfully identified. All identified protein spots were involved in metabolism of carbon, nitrogen and sulfur, photosynthesis, protein processing, stress defense and RNA processing, indicating these physiological processes may play crucial roles in the periodic albinism. Quantitative real-time RT-PCR analysis was used to assess the transcriptional level of differentially expressed proteins. In addition, the ultrastructural studies revealed that the etioplast-chloroplast transition in the leaf cell of White leaf No. 1 was inhibited and the grana in the chloroplast was destroyed at the albinistic stage. Conclusions In this work, the proteomic analysis revealed that some proteins may have important roles in the molecular events involved in periodic albinism of White leaf No. 1 and identificated many attractive candidates for further investigation. In

  5. [Analysis of clinical characteristics and genetic mutation in a pedigree affected with Chediak-Higashi syndrome].

    Science.gov (United States)

    Zhao, Jiangang; Wang, Zhi; Zhang, Liyu; Sun, Hongli; Yang, Ying

    2018-04-10

    To explore the genetic basis for a pedigree affected with Chediak-Higashi syndrome (CHS). Clinical data of two CHS patients from the pedigree was collected and analyzed. Targeted next generation sequencing and Sanger sequencing were conducted to detect potential mutation of the LYST gene. Both patients presented immunodeficiency, oculocutaneous albinism, and acidophilic inclusion body on bone marrow and blood smears. A homozygous c.6077_6078insA (p.Tyr2026Terfs) mutation was detected in the LYST gene in both patients. Genetic testing can play an important role in the diagnosis of CHS.

  6. Motor neuronopathy in Chediak-Higashi syndrome.

    Science.gov (United States)

    Mathis, S; Cintas, P; de Saint-Basile, G; Magy, L; Funalot, B; Vallat, J-M

    2014-09-15

    Chediak-Higashi syndrome is a rare autosomal recessive disease characterized by partial oculocutaneous albinism, recurrent pyogenic infections and the presence of giant granules in many cells such as leucocytes (hallmark of the disease). Neurological symptoms are rare. We describe two sisters who presented the same phenotype of slowly progressive motor neuronopathy (with Babinski sign in one patient); biopsy of the sural nerve showed an abnormal endoneurial accumulation of lipofuscin granules. We discuss these two observations and compare them with the few case reports of neuropathy in Chediak-Higashi syndrome. Copyright © 2014 Elsevier B.V. All rights reserved.

  7. Chediak-Higashi syndrome presenting in the accelerated phase

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    Subramani Palaniyandi

    2017-07-01

    Full Text Available Chediak-Higashi syndrome (CHS is an extremely rare autosomal recessive disorder characterised by recurrent pyogenic infections, partial oculocutaneous albinism, and mild bleeding. The most reliable finding that helps in diagnosis is abnormally large granules in leukocytes and other granule-containing cells. Herein we report a case of CHS in a 3-month-old girl who presented to us in the accelerated phase of the disease. The case is reported because of the extreme rarity of CHS presenting in the accelerated phase at diagnosis.

  8. Chediak-higashi syndrome presented as accelerated phase: case report and review of the literature.

    Science.gov (United States)

    Bouatay, Amina; Hizem, Sondes; Tej, Amel; Moatamri, Wided; Boughamoura, Lamia; Kortas, Mondher

    2014-09-01

    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease, characterized by partial oculocutaneous albinism, recurrent pyogenic infections (skin, mucosa and respiratory system), and neurologic deficit. The hallmark of this syndrome is the presence of abnormal intracytoplasmic giant granules in all granule containing cells including leukocytes in blood and bone marrow. A majority (85 %) of patients with CHS develop an accelerated phase consisting of a lymphoproliferative syndrome with hemophagocytosis and infiltration of most tissues. This phase is characterized by fever, jaundice, hepatosplenomegaly, lymphadenopathy, pancytopenia and neurological abnormalities. In this paper, we report a case of CHS presented as accelerated phase in a 9-month-old girl child.

  9. A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome.

    Science.gov (United States)

    Kaya, Zuhre; Ehl, Stephan; Albayrak, Meryem; Maul-Pavicic, Andrea; Schwarz, Klaus; Kocak, Ulker; Ergun, Mehmet Ali; Gursel, Turkiz

    2011-07-01

    Chediak Higashi syndrome (CHS) is an autosomal-recessive disorder characterized by oculocutaneous albinism, recurrent infections and a progressive primary neurological disease. Here, we describe two siblings with CHS due to a novel homozygous R1836X mutation in the LYST gene associated with loss of NK cell degranulation and cytotoxicity. While one sibling was born with fair skin and hair and died of hemophagocytic lymphohistiocytosis (HLH) at 5 months of age, the other sibling had dark black hair and skin and developed HLH at the age of 4 years. Copyright © 2011 Wiley-Liss, Inc.

  10. Command History. United States Military Assistance Command, Vietnam 1968. Volume 2

    Science.gov (United States)

    1968-01-01

    annomncement from Hanoi identified the prisoners as Captain 3ohn David Black, Major Norris Miller Overly, and Ensign David Paul Matheny. North Vietnam said...Provisional) Charles M. Seh Ma USA William T. Bnrdey so USA may 68 David S. Parker MO USA jul 68 CO. USA Nq Arta Commanoud (MAC) Albin F. Iruyk so USA...Automatic Switching Canter (AUTOD:N) in VN is dedicated at Phu Lam Stnin’ Station. Sagaln. - Elms of the 26th USMC Regi. participating in Op. SCOTLAND

  11. Anaesthesia Management in a Patient with Waardenburg Syndrome and Review of the Literature.

    Science.gov (United States)

    Peker, Kevser; Ergil, Julide; Öztürk, İbrahim

    2015-10-01

    Waardenburg syndrome is a rare autosomal dominant disease that may cause hearing loss, pigmentary abnormalities, neurocristopathy and partial albinism. Incidence is estimated as 2%-3% among the cases of congenital deafness and 1/42,000 of the general population. Children with Waardenburg syndrome usually require anaesthesia for the cochlear implant operation in early age. The features of the syndrome that may bear importance for anaesthetic management are laryngomalacia, multiple muscle contractures, limited neck movements, cyanotic cardiopathy and electrolyte imbalance. Patients with Waardenburg syndrome stand for difficult airway. We aimed to report anaesthetic management of a child with Waardenburg syndrome who underwent surgery for cochlear implantation.

  12. Hermansky-Pudlak syndrome; a Case Report

    Directory of Open Access Journals (Sweden)

    Abbas Bagheri

    2010-01-01

    Full Text Available Purpose: To report a case of Hermansky-Pudlak syndrome. Case Report: A seven-year-old boy presented with marked generalized hypopigmentation, ocular exodeviation and nystagmus. He had history of easy bruising. Examination revealed green irides with marked transillumination, hypopigmented fundi and foveal hypoplasia. Further investigations disclosed platelet storage defect with adenosine diphosphate deficiency and abnormal aggregation compatible with Hermansky-Pudlak syndrome. The patient underwent strabismus surgery taking necessary precautions such as reserving platelet concentrates in case of a hemorrhagic event. Conclusion: Patients with albinism should be evaluated for Hermansky-Pudlak syndrome especially before surgery to prevent life-threatening complications.

  13. A case of leucism in House Sparrow, Passer domesticus (Linnaeus, 1758 in an island of São Francisco river, northeastern Brazil

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    Leonardo Barros Ribeiro

    2012-03-01

    Full Text Available Leucism in birds is a genetic disorder characterized by the total absence of melanin in some or all feathers, but unlike albinism, the other body parts, such as eyes, beak, and tarsi remain with the typical color of the species. The House Sparrow Passer domesticus is a bird native from Europe, Asia, and North Africa. It has been introduced in North America, South America, South Africa, Australia, and New Zealand. Currently, it is the bird species with the largest geographical range. Here, we report the record of a leucistic specimen of Passer domesticus from Rodeadouro island, São Francisco river, northeastern Brazil.

  14. Functional deltoid muscle reconstruction following an extensive squamous cell carcinoma resection

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    Tang Weng Jun

    2016-07-01

    Full Text Available Squamous cell carcinoma frequently occurs in an individual with albinism. In this case, the growth of the squamous cell carcinoma was aggressive that it invaded the deltoid muscle. After an oncologic resection, there was a huge defect which required near total resection of the deltoid muscle. Loss of deltoid muscle will lead to the loss of abduction and anterior flexion at the shoulder. This could be debilitating in a person’s normal daily life and activities. Restoration of the shoulder abduction and flexion function with a pedicle bipolar latissimus dorsi flap transfer was chosen in this case due to the versatility and reliability of the flap.

  15. Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy

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    R Rajyalakshmi

    2016-01-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, RAB27A (GS2, and MLPH (GS3 genes, characterized by a common feature, partial albinism. The common variant of three, GS type 2, in addition, shows primary immunodeficiency which leads to recurrent infections and hemophagocytic lymphohistiocytosis. We, herewith, describe a case of GS type 2, in a 4-year-old male child who presented with chronic and recurrent fever, lymphadenopathy, hepatosplenomegaly, and secondary neurological deterioration; highlighting the cytological and histopathological features of lymph nodes. Hair shaft examination of the child confirmed the diagnosis.

  16. Takayasu's arteritis: a rare cause of cardiac death in a Caucasian teenage female patient.

    Science.gov (United States)

    Said, S A; Koetsveld-Baart, J C; Den Hollander, J C

    1997-11-01

    A caucasian teenage Dutch schoolgirl with known chronic low visual acuity and albinism, presented with frank acute pulmonary oedema, died after 1 h of cardio-pulmonary resuscitation for bradyarrhythmia and cardiac arrest. Two weeks prior to presentation, during sport training, she complained of oppressive chest pain on exertion accompanied with vomiting without any other systemic symptoms. Post-mortem examination revealed supravalvular stenosis of the pulmonary trunk and ascending aorta with irregular intimal thickening associated with stenosis of the left coronary artery. Microscopic examination demonstrated cellular infiltration of the wall of the aorta and pulmonary trunk with formation of granulomas with multinucleated giant cells. These features are compatible with Takayasu's arteritis.

  17. How does agonistic behaviour differ in albino and pigmented fish?

    Science.gov (United States)

    Horký, Pavel; Wackermannová, Marie

    2016-01-01

    In addition to hypopigmentation of the skin and red iris colouration, albino animals also display distinct physiological and behavioural alterations. However, information on the social interactions of albino animals is rare and has mostly been limited to specially bred strains of albino rodents and animals from unique environments in caves. Differentiating between the effects of albinism and domestication on behaviour in rodents can be difficult, and social behaviour in cave fish changes according to species-specific adaptations to conditions of permanent darkness. The agonistic behaviours of albino offspring of pigmented parents have yet to be described. In this study, we observed agonistic behaviour in albino and pigmented juvenile Silurus glanis catfish. We found that the total number of aggressive interactions was lower in albinos than in pigmented catfish. The distance between conspecifics was also analysed, and albinos showed a tendency towards greater separation from their same-coloured conspecifics compared with pigmented catfish. These results demonstrate that albinism can be associated with lower aggressiveness and with reduced shoaling behaviour preference, as demonstrated by a tendency towards greater separation of albinos from conspecifics. PMID:27114883

  18. Characterization and comparison of proteomes of albino sea cucumber Apostichopus japonicus (Selenka) by iTRAQ analysis.

    Science.gov (United States)

    Xia, Chang-Ge; Zhang, Dijun; Ma, Chengnv; Zhou, Jun; He, Shan; Su, Xiu-Rong

    2016-04-01

    Sea cucumber is a commercially important marine organism in China. Of the different colored varieties sold in China, albino sea cucumber has the greatest appeal among consumers. Identification of factors contributing to albinism in sea cucumber is therefore likely to provide a scientific basis for improving the cultivability of these strains. In this study, two-dimensional liquid chromatography-tandem mass spectrometry coupled with isobaric tags for relative and absolute quantification labeling was used for the first time to quantitatively define the proteome of sea cucumbers and reveal proteomic characteristics unique to albino sea cucumbers. A total of 549 proteins were identified and quantified in albino sea cucumber and the functional annotations of 485 proteins have been exhibited based on COG database. Compared with green sea cucumber, 12 proteins were identified as differentially expressed in the intestine and 16 proteins in the body wall of albino sea cucumber. Among them, 5 proteins were up-regulated in the intestine and 8 proteins were down-regulated in body wall. Gene ontology annotations of these differentially expressed proteins consisted mostly of 'biological process'. The large number of differentially expressed proteins identified here should be highly useful in further elucidating the mechanisms underlying albinism in sea cucumber. Copyright © 2015 Elsevier Ltd. All rights reserved.

  19. Chediak-Higashi: a case report

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    A Paymard

    2016-06-01

    Full Text Available Background & aim: Chédiak–Higashi syndrome, a rare autosomal recessive disorder characterized by immune deficiency, bleeding diathesis, recurrent bacterial infections, albinism dynamic and progressive neurological disorder, as well as major organs such as the liver and spleen lymphocytic infiltration is determined. The aim of this study was to report a case of a rare manifestation of the disease. Case Report: The case-study in the present report was a 4-month-old female that two months after vaccination had intermittent fever associated with fever, weakness, which lasted more than a week. After blood tests, ultrasound and examination of blood cells, Chédiak–Higashi syndrome diagnosis was made. In terms of blood cells, pancytopenia, platelets and fresh frozen plasma were administered to the patient to prevent bleeding. After Buttock infections, the patient was suffering from septicemia and septic shock followed by a lack of response to resuscitation and cardiopulmonary arrest and then died. Conclusion: In this patient all Chediak Higashi syndrome, including long fever, loss of appetite, frequent infections, albinism variable and multiple neurological deficit was seen. Chdyak Higashi syndrome is treatable with early diagnosis and bone marrow transplantation.

  20. Large-Scale Recombinant Expression and Purification of Human Tyrosinase Suitable for Structural Studies.

    Directory of Open Access Journals (Sweden)

    Xuelei Lai

    Full Text Available Human tyrosinase (TYR is a glycoprotein that initiates the first two reactions in the melanin biosynthesis pathway. Mutations in its encoding gene cause Oculocutaneous Albinism type I (OCA1, the most severe form of albinism, which is a group of autosomal recessive disorders characterized by reduced or absent production of melanin in skin, hair and eyes. Despite extensive structural and characterization studies of its homologues in lower eukaryotic organisms, the catalytic mechanism of human TYR and the molecular basis of OCA1 are largely unknown. In this work, we have carried out a large-scale recombinant expression of TYR that has enabled us to obtain high yields of pure and active protein, required for crystallization trials and screening of skin whitening agents, which is highly demanded in the cosmetic industry. Addition of an N-terminal honeybee melittin signal peptide for secretion of the produced protein into the (protein-free medium, as well as a cleavable His-tag at the C-terminus, was crucial for increasing the yield of pure protein. We have successfully crystallized two TYR variants, in both glycosylated and deglycosylated forms, showing preliminary X-ray diffraction patterns at 3.5 Å resolution. Hence, we have established an expression and purification protocol suitable for the crystal structure determination of human TYR, which will give unique atomic insight into the nature and conformation of the residues that shape the substrate binding pocket that will ultimately lead to efficient compound design.

  1. Highly efficient bi-allelic mutation rates using TALENs in Xenopus tropicalis

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    Shoko Ishibashi

    2012-10-01

    In the past decade, Xenopus tropicalis has emerged as a powerful new amphibian genetic model system, which offers all of the experimental advantages of its larger cousin, Xenopus laevis. Here we investigated the efficiency of transcription activator-like effector nucleases (TALENs for generating targeted mutations in endogenous genes in X. tropicalis. For our analysis we targeted the tyrosinase (oculocutaneous albinism IA (tyr gene, which is required for the production of skin pigments, such as melanin. We injected mRNA encoding TALENs targeting the first exon of the tyr gene into two-cell-stage embryos. Surprisingly, we found that over 90% of the founder animals developed either partial or full albinism, suggesting that the TALENs induced bi-allelic mutations in the tyr gene at very high frequency in the F0 animals. Furthermore, mutations tyr gene were efficiently transmitted into the F1 progeny, as evidenced by the generation of albino offspring. These findings have far reaching implications in our quest to develop efficient reverse genetic approaches in this emerging amphibian model.

  2. Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations.

    Science.gov (United States)

    Reddy, R Raghunatha; Babu, Balaji M; Venkateshwaramma, B; Hymavathi, Ch

    2011-07-01

    Silvery hair is a rare clinical manifestation which is a common presentation in a group of rare syndromes which usually present in the pediatric age group together termed as "silvery hair syndrome," consisting of Chediak-Higashi syndrome (CHS), Griscelli syndrome (GS), and Elejalde disease. CHS is a rare autosomal recessive disorder. It is characterized by mild pigment dilution (partial oculocutaneous albinism), silvery blond hair, severe phagocytic immunodeficiency, bleeding tendencies, recurrent pyogenic infections, progressive sensory or motor neurological defects. GS is also a rare autosomal recessive disorder characterized by reduced skin pigmentation, often regarded as partial albinism and silvery grey hair combined with immunodeficiency. To make correct diagnosis and to differentiate between CHS and GS, it requires light microscopic examination of skin and hair shafts, immunological and peripheral blood smear evaluation. They have been reported to be associated with some common clinical association as a part of the syndrome due to pigmentary delusion, neurological dysfunction, and severe life-threatening infections due to neutrophil phagocytosis dysfunction. There are reports of few rare associations and varied presentations and variable mean survival age. We report two cases with common presentation of silvery hair but varied systemic and clinical manifestations and survival in two cousin brothers from the same family.

  3. Accelerated phase of chediak higashi syndrome mimicking lymphoma--a case report.

    Science.gov (United States)

    Nargund, Ashwini R; Madhumathi, Davanam S; Premalatha, Chennagiri S; Rao, Clementina Rama; Appaji, Lingappa; Lakshmidevi, Vishweshvaraih

    2010-08-01

    Chediak Higashi Syndrome (CHS) is a rare autosomal recessive disease, characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granule containing cells. The abnormal granules are readily seen in blood and marrow granulocytes. About 50% to 85% of patients eventually enter an accelerated phase, manifested by fever, lymphadenopathy, anemia, jaundice, neutropenia, thrombocytopenia, and widespread lymphohistiocytic organ infiltrates. The first accelerated phase of CHS may occur shortly after birth or several years later. Most patients undergo a variable period of recurrent infections before going into the accelerated phase. Therefore, primary presentation in the accelerated phase is unusual. This case was referred to our institution that is a tertiary care cancer centre, with a clinical diagnosis of lymphoma/leukemia. Hence this interesting case of CHS in accelerated phase at presentation is described. The child had 1-month history of fever, bilateral neck swellings, and loss of appetite. On the basis of the clinical presentation, hematologic, and histopathologic findings, a diagnosis of accelerated phase of CHS was made. The child was treated with antipyretics, antibiotics, and stem cell transplantation was suggested to him. When the child presents to a hospital with oculocutaneous albinism and recurrent infections, careful examination of the peripheral blood smear by an experienced morphologist cannot be overemphasized. A high degree of awareness and early recognition of the syndrome, could lead to the institution of the only possible curative treatment, bone marrow transplant, before the accelerated phase supervenes.

  4. Clinico-hematological profile of Chediak-Higashi syndrome: experience from a tertiary care center in south India.

    Science.gov (United States)

    Roy, Arun; Kar, Rakhee; Basu, Debdatta; Srivani, S; Badhe, Bhawana Ashok

    2011-01-01

    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by partial ocular and cutaneous albinism, increased susceptibility to pyogenic infections, the presence of large lysosomal-like organelles in most granule-containing cells and a bleeding tendency. The abnormal granules are most readily seen in blood and marrow leukocytes, especially granulocytes; and in melanocytes. Other clinical features include silvery hair, photophobia, horizontal and rotatory nystagmus and hepatosplenomegaly. The clinico-hematological profile of a series of 5 cases of CHS encountered at JIPMER Hospital with diagnostic work-up done in the Department of Pathology over the last 6 years is presented. The diagnostic work-up included complete hemogram with peripheral smear, bone marrow examination, skin and liver biopsies. The age of the patients ranged from 5 months to 3 years. All patients had silvery hair and partial albinism and presented with fever and recurrent chest infection. Two patients were stable. Three patients were in accelerated phase; of them, 1 patient with associated hemophagocytic syndrome had a rapidly fulminant course. Peripheral blood smear showed anomalously large granules in the leukocytes. Skin biopsy showed sparse, coarse melanin pigment in the epidermis, and liver biopsy done in 2 patients with accelerated phase showed portal lymphohistiocytic aggregates. The diagnostic hallmark of CHS is the occurrence of giant inclusion bodies (granules) in the peripheral leukocyte and their bone marrow precursors. The case series is being presented because of the rarity of CHS and varied spectrum of clinical and hematological presentation.

  5. Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome.

    Science.gov (United States)

    Jin, Yaqiong; Zhang, Li; Wang, Senfen; Chen, Feng; Gu, Yang; Hong, Enyu; Yu, Yongbo; Ni, Xin; Guo, Yongli; Shi, Tieliu; Xu, Zigang

    2017-02-01

    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease characterized by varying degrees of oculocutaneous albinism, recurrent infections, and a mild bleeding tendency, with late neurologic dysfunction. This syndrome is molecularly characterized by pathognomonic mutations in the LYST (lysosomal trafficking regulator). Using whole genome sequencing (WGS) we attempted to identify novel mutations of CHS based on a family of CHS with atypical symptoms. The two patients demonstrated a phenotypic constellation including partial oculocutaneous albinism, frequency upper respiratory infection or a marginal intelligence, without bleeding tendency and severe immunodeficiency. WGS revealed two compound LYST mutations including a maternally inherited chr1:235969126G > A (rs80338652) and a novel paternally inherited chr1: 235915327A > AT, associated with autosomal recessive CHS. These two variants fall in the coding regions of LYST, resulting in premature truncation of LYST due to R1104X/N2535KfsX2 induced incomplete translation. Notably, the heterozygous carriers (i.e. parents) were unaffected. Our finding also reveals decreased plasma serotonin levels in patients with CHS compared with unaffected individuals for the first time. The present study contributes to improved understanding of the causes of this disease and provides new ideas for possible treatments.

  6. to generation

    Directory of Open Access Journals (Sweden)

    Michał Otręba

    2014-09-01

    Full Text Available Inherited diseases of pigmentation were among the first traits studied in humans because of their easy recognition. This article presents selected hypopigmentary disorders, which can be divided into hypomelanocytoses and hypomelanoses. Hereditary hypomelanoses are caused by abnormal melanin biosynthesis as well as by abnormal transfer of mature melanosomes to melanocyte dendrites and to neighboring cells. These disorders are represented by oculocutaneous albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, Menkes syndrome and phenylketonuria, and are caused by different mutations of the following genes: TYR, P, TRP1, MATP, HPS, CHS, MYO5A, RAB27A, MLPH, ATP7A and PAH. Oculocutaneous albinism is caused by a deficiency of melanin pigment in the skin, hair, and eye and results from mutations in the TYR, P, TRP1 and MATP genes involved in the biosynthesis of melanin pigment. Mutations in the HPS, CHS, MYO5A, RAB27A and MLPH genes, which regulate the biogenesis, maturation and transfer of me-lanosomes to neighboring cells, are responsible for such disorders as Hermansky-Pudlak, Chediak-Higashi and Griscelli syndromes. In turn, mutations of the ATP7A and PAH genes, regulating intracellular copper concentration and activity of phenylalanine hydroxylase, lead to Menkes syndrome and phenylketonuria.

  7. Are mice pigmentary genes throwing light on humans?

    Directory of Open Access Journals (Sweden)

    Bose S

    1993-01-01

    Full Text Available In this article the rapid advances made in the molecular genetics of inherited disorders of hypo and hyperpigmentation during the past three years are reviewed. The main focus is on studies in mice as compared to homologues in humans. The main hypomelanotic diseases included are, piebaldism (white spotting due to mutations of c-KIT, PDGF and MGF genes; vitiligo (microphathalmia mice mutations of c-Kit and c-fms genes; Waardenburg syndrome (splotch locus mutations of mice PAX-3 or human Hup-2 genes; albinism (mutations of tyrosinase genes, Menkes disease (Mottled mouse, premature graying (mutations in light/brown locus/gp75/ TRP-1; Griscelli disease (mutations in TRP-1 and steel; Prader-willi and Angelman syndromes, tyrosinase-positive oculocutaneous albinism and hypomelanosis of lto (mutations of pink-eyed dilution gene/mapping to human chromosomes 15 q 11.2 - q12; and human platelet storage pool deficiency diseases due to defects in pallidin, an erythrocyte membrane protein (pallid mouse / mapping to 4.2 pallidin gene. The genetic characterization of hypermelanosis includes, neurofibromatosis 1 (Café-au-lait spots and McCune-Albright Syndrome. Rapid evolving knowledge about pigmentary genes will increase further the knowledge about these hypo and hyperpigmentary disorders.

  8. Fitness loss and germline mutations in barn swallows breeding in Chernobyl

    Energy Technology Data Exchange (ETDEWEB)

    Ellegren, Hans; Lindgren, Gabriella; Primmer, C.R. [Swedish Univ. of Agricultural Sciences, Animal Breeding and Genetics Dept., Uppsala (Sweden); Moeller, A.P. [Universite Pierre et Marie Curie. Lab. d`Ecologie, Paris, 75 (France)

    1997-10-09

    The severe nuclear accident at Chernobyl in 1986 resulted in the worst reported accidental exposure of radioactive material to free-living organisms. Short-term effects on human populations inhabiting polluted areas include increased incidence of thyroid cancer, infant leukaemia, and congenital malformations in newborns. Two recent studies have reported, although with some controversy, that germline mutation rates were increased in humans and voles living close to Chernobyl, but little is known about the viability of the organisms affected. Here we report an increased frequency of partial albinism, a morphological aberration associated with a loss of fitness, among barn swallows, Hirundo rustica, breeding close to Chernobyl. Heretability estimates indicate that mutations causing albinism were at least partly of germline origin. Furthermore, evidence for an increased germline mutation rate was obtained from segregation analysis at two hypervariable microsatellite loci, indicating that mutation events in barn swallows from Chernobyl were two- to tenfold higher than in birds from control areas in Ukraine and Italy. (author).

  9. How does agonistic behaviour differ in albino and pigmented fish?

    Directory of Open Access Journals (Sweden)

    Ondřej Slavík

    2016-04-01

    Full Text Available In addition to hypopigmentation of the skin and red iris colouration, albino animals also display distinct physiological and behavioural alterations. However, information on the social interactions of albino animals is rare and has mostly been limited to specially bred strains of albino rodents and animals from unique environments in caves. Differentiating between the effects of albinism and domestication on behaviour in rodents can be difficult, and social behaviour in cave fish changes according to species-specific adaptations to conditions of permanent darkness. The agonistic behaviours of albino offspring of pigmented parents have yet to be described. In this study, we observed agonistic behaviour in albino and pigmented juvenile Silurus glanis catfish. We found that the total number of aggressive interactions was lower in albinos than in pigmented catfish. The distance between conspecifics was also analysed, and albinos showed a tendency towards greater separation from their same-coloured conspecifics compared with pigmented catfish. These results demonstrate that albinism can be associated with lower aggressiveness and with reduced shoaling behaviour preference, as demonstrated by a tendency towards greater separation of albinos from conspecifics.

  10. A case of leucism in the burrowing owl Athene cunicularia (Aves: Strigiformes with confirmation of species identity using cytogenetic analysis

    Directory of Open Access Journals (Sweden)

    Denise M Nogueira

    2011-02-01

    Full Text Available Leucism is an inherited disorder, characterized by the lack of pigments in part or all of the body, normal coloration of the eyes and, in birds, in naked parts such as the bill and legs. This kind of disorder is sometimes erroneously designated as albinism or partial albinism. In this study, we present a case of leucism in a wild owl. The studied individual presented completely white plumage, light-yellow coloration of legs and bill and normal coloration of eyes. According to morphological features, this owl is a specimen of burrowing owl, Athene cunicularia (Molina, 1782. To confirm the species identity, we used cytogenetic analyses for karyotypic determination, comparing it to the previously described one in the literature. We also studied a captive female of A. cunicularia to complement the species karyotype, which was described in the literature based only on a single male. The karyotype of the leucistic owl individual was compatible with the previously published one for A. cunicularia, confirming the bird was a male specimen. Cytogenetic analysis of the captive female showed that the W sex chromosome is metacentric and comparable to the seventh pair in size. This is the first description of a case of leucism in A. cunicularia for South America. Long-term studies are needed in the Neotropical region to evaluate survival and breeding success in leucistic birds.

  11. Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity

    International Nuclear Information System (INIS)

    Halaban, R.; Moellmann, G.

    1990-01-01

    Melanogenesis is regulated in large part by tyrosinase, and defective tyrosinase leads to albinism. The mechanisms for other pigmentation determinants (e.g., those operative in tyrosinase-positive albinism and in murine coat-color mutants) are not yet known. One murine pigmentation gene, the brown (b) locus, when mutated leads to a brown (b/b) or hypopigmentated (B lt /B lt ) coat versus the wild-type black (B/B). The authors show that the b locus codes for a glycoprotein with the activity of a catalase (catalase B). Only the c locus protein is a tyrosinase. Because peroxides may be by-products of melanogenic activity and hydrogen peroxide in particular is known to destroy melanin precursors and melanin, they conclude that pigmentation is controlled not only by tyrosinase but also by a hydroperoxidase. The studies indicate that catalase B is identical with gp75, a known human melanosomal glycoprotein; that the b mutation is in a heme-associated domain; and that the B lt mutation renders the protein susceptible to rapid proteolytic degradation

  12. Sickle cell disease presenting with extensive peri-macular arteriolar occlusions in a nine-year-old boy.

    Science.gov (United States)

    Al-Abdulla, N A; Haddock, T A; Kerrison, J B; Goldberg, M F

    2001-02-01

    To report a dramatic occlusive event of the macula surrounding the foveal avascular zone, causing severe and permanent loss of vision in a child with sickle cell disease. Case report. A nine-year-old boy with SS hemoglobinopathy and oculocutaneous albinism developed acute unilateral loss of vision. Ophthalmoscopy revealed a pale, milky white, thickened retinal lesion centered on the fovea in the right eye as well as foveal hypoplasia in the left eye. The presence of macular malformation associated with oculocutaneous albinism precluded formation of a cherry-red spot. Fluorescein angiography of the right eye demonstrated extensive occlusions of the arterioles surrounding the foveal avascular zone. The presence of occlusions surrounding the fovea from multiple directions suggested the possibility of central retinal artery occlusion with migration of microemboli downstream. The patient, the youngest case reported, developed an irreversible macular infarction that was not improved by an exchange erythrocyte transfusion. He was placed on a long-term monthly transfusion protocol to protect his unaffected eye.

  13. The key role of electrophysiology in the diagnosis of visually impaired children.

    Science.gov (United States)

    van Genderen, Maria; Riemslag, Frans; Jorritsma, Frank; Hoeben, Frank; Meire, Francoise; Stilma, Jan

    2006-12-01

    To describe the outcome of specialized electrophysiology in visually impaired children. We carried out a retrospective evaluation of 340 electrophysiological examinations performed in 298 children over a 3-year period (2001-2003), with regard to demographic data, referral pattern, degree of compliance, and diagnostic results. Electrophysiology was performed without sedation or anaesthesia. In electroretinograms, DTL electrodes were used in combination with online selection of responses. Visual evoked potentials testing was performed with seven active occipital electrodes. The mean age of the children was 7 +/- 5 years; 72 (24%) of the children were mentally as well as visually impaired. Main reasons for referral were suspected posterior segment disease, abnormal visual development, unexplained low vision, high myopia, and suspected albinism. Compliance was good in 302/340 (88%), partial in 24/340 (7%), and absent in 14/340 (4%) of the examinations. Of the 326 successful procedures, 215 (66%) showed abnormal results. Tapetoretinal dystrophy (22%), opticopathy (16%), congenital stationary night blindness (13%), and cone dystrophy (11%) were the most frequently established diagnoses. Albinism was confirmed in 14 of 24 suspected patients; additionally, unsuspected misrouting was found in six. In 26 (9%) of the patients, a previously established diagnosis was changed. In a specialized setting, electrophysiological examinations can be performed successfully in visually impaired children. The results are essential for the final ophthalmological diagnosis and have important consequences for rehabilitation.

  14. Clinical characteristics and causes of visual impairment in a low vision clinic in northern Jordan

    Directory of Open Access Journals (Sweden)

    Bakkar MM

    2018-04-01

    Full Text Available May M Bakkar, Eman A Alzghoul, Mera F Haddad Faculty of Applied Medical Sciences, Department of Allied Medical Sciences, Jordan University of Science and Technology, Irbid, Jordan Aim: The aim of the study was to identify causes of visual impairment among patients attending a low vision clinic in the north of Jordan and to study the relevant demographic characteristics of these patients.Subjects and methods: The retrospective study was conducted through a review of clinical records of 135 patients who attended a low vision clinic in Irbid. Clinical characteristics of the patients were collected, including age, gender, primary cause of low vision, best corrected visual acuity, and current prescribed low vision aids. Descriptive statistics analysis using numbers and percentages were calculated to summarize categorical and nominal data.Results: A total of 135 patients (61 [45.2%] females and 74 [54.8%] males were recruited in the study. Mean age ± standard deviation for the study population was 24.53 ± 16.245 years; age range was 5–90 years. Of the study population, 26 patients (19.3% had mild visual impairment, 61 patients (45.2% had moderate visual impairment, 27 patients (20.0% had severe visual impairment, and 21 patients (15.6% were blind. The leading causes of visual impairment across all age groups were albinism (31.9% and retinitis pigmentosa (RP (18.5%. Albinism also accounted for the leading cause of visual impairment among the pediatric age group (0–15 years while albinism, RP, and keratoconus were the primary causes of visual impairment for older patients. A total of 59 patients (43.7% were given low vision aids either for near or distance. The only prescribed low vision aids for distances were telescopes. For near, spectacle-type low vision aid was the most commonly prescribed low vision aids.Conclusion: Low vision services in Jordan are still very limited. A national strategy programme to increase awareness of low vision

  15. Isolamento reprodutivo entre Australorbis glabratus e A. nigricans Reproductive isolation between Australorbis glabratus and A. nigricans

    Directory of Open Access Journals (Sweden)

    W. Lobato Paraense

    1955-12-01

    Full Text Available Foram feitas provas de cruzamento entre espécimes de uma população de A. glabratus e de outra de A. nigricans, utilizando o fator de albinismo como mercador genético. O resultado dessas provas revelou completo isolamento reprodutivo entre ambas, permitindo separá-las como boas espécies de acôrdo com o critério biológico.Crossing experiments were made between specimens from one population of A. glabratus and another of A. nigricans, the factor of albinism having been used as genetic marker. The results of those experiments revealed a complete reproductive isolation between both population, thus indicating their specific distinctness according to the biological criterion.

  16. Visit of Ambassadors from Latin America, Portugal and Spain to SM18.

    CERN Multimedia

    Patrice Loïez

    2002-01-01

    Left to right: Prof. Juan Antonio Rubio, Head of the Education and Technology Transfer Division; H.E. Mr Gustavo Albin, Ambassador, Permanent Representative of Mexico in Geneva; H.E. Mr Joaquìn Pérez-Villanueva y Tovar, Ambassador, Permanent Representative of Spain in Geneva; H.E. Mr Alvaro de Mendonça e Moura, Ambassador, Permanent Representative of Portugal in Geneva, Dr Norbert Siegel, Insertion, Correctors and Protection Group, LHC division; H.E. Mr Juan Enrique Vega, Ambassador, Permanent Representative of Chile in Geneva; Mr Rodrigo Espinosa, Counsellor, Permanent Mission of Chile in Geneva; H.E. Mr Horacio Emilio Solari, Ambassador, Permanent Representative of the Republic of Argentina in Geneva; Dr John Ellis, Adviser for Non-Member State Relations and Mr Enrique Ochoa, Third Secretary, Permanent Mission of Mexico in Geneva.

  17. Spontaneous changes a basis for new ornamental woody plant cultivars

    Directory of Open Access Journals (Sweden)

    Đukić Matilda

    2006-01-01

    Full Text Available In nursery stock production of some ornamental woody plants the appearance of spontaneous variability was identified in the form of atypical pigmentation of leaves (albinism, variegated, red colored, leaves shape (jaggy and dwarfs. Mutated plants with variegated leaves were observed among hybrid plane (Platanus x acerifolia (Ait. Willd., Siberian elm (Ulmus pumila L., laurel cherry (Prunus laurocerasus L. and Lawson false-cypress (Chamaecyparis lawsoniana (Murr. Parl. Seedlings. The type of variegation and frequency were analyzed. Among plane tree and Siberian elm seedlings there were observed red colored leaves. Atypical, jaggy shaped leaves were found among laurel cherry seedlings. Dwarf growth was identified at Siberian elm and birch (Betula pendula Roth. where also found fruits at one year seedling. There were not significant differences in some morphological and physiological properties in plane tree seedlings with various pigmented leaves. .

  18. Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings.

    Science.gov (United States)

    Raghuveer, Chekuri; Murthy, Sambasiviah Chidambara; Mithuna, Mallur N; Suresh, Tamraparni

    2015-01-01

    Silvery hair is a common feature of Chediak-Higashi syndrome (CHS), Griscelli syndrome, and Elejalde syndrome. CHS is a rare autosomal recessive disorder characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granule containing cells. A 6-year-old girl had recurrent respiratory infections, speckled hypo- and hyper-pigmentation over exposed areas, and silvery hair since early childhood. Clinical features, laboratory investigations, hair microscopy, and skin biopsy findings were consistent with CHS. Her younger sisters aged 4 and 2 years had similar clinical, peripheral blood picture, and hair microscopy findings consistent with CHS. This case is reported for its rare occurrence in all the three siblings of the family, prominent pigmentary changes, and absent accelerated phase till date. Awareness, early recognition, and management of the condition may prevent the preterm morbidity associated.

  19. Chediak-Higashi Syndrome: A Case Series from Karnataka, India.

    Science.gov (United States)

    Rudramurthy, Pradeep; Lokanatha, Hemalata

    2015-01-01

    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease, characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granulecontaining cells. The abnormal granules are readily seen in blood and marrow granulocytes. Other clinical features include silvery hair, photophobia, nystagmus and hepatosplenomegaly. However, the presence of abnormal giant intracytoplasmic granules in neutrophils and their precursors are diagnostic of CHS. Here, we present a series of five cases, out of which four presented in the accelerated phase. In all the five cases, the giant granules were noted predominantly in the cytoplasm of lymphocytes, which is a rare occurrence compared to those present in the granulocytes.

  20. Chédiak–Higashi syndrome

    Directory of Open Access Journals (Sweden)

    Javad Ghaffari

    2013-05-01

    Full Text Available Chédiak-Higashi syndrome is a rare autosomal recessive congenital immunodeficiency mainly characterized by a condition called oculo-cutaneous albinism. The affected subjects have light-colored hair, vision problems, blood clotting (coagulation abnormalities and in adulthood varying neurologic disorders. Recurrent infections, particularly viral infection with other disorders in childhood are usually life threatening. It has demonstrated mutations throughout the CHS1/LYST gene. The nature of the mutation can be a predictor of the severity of the disease. The current therapeutic options are: Antibiotics, chemotherapy and bone marrow transplantation. This review will discuss the clinical and molecular aspects of this syndrome for better understanding of the factors that may cause abnormalities.

  1. Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review.

    Science.gov (United States)

    Maaloul, I; Talmoudi, J; Chabchoub, I; Ayadi, L; Kamoun, T H; Boudawara, T; Kallel, C H; Hachicha, M

    2016-06-01

    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, bleeding diathesis, and progressive neurologic deterioration. In 85% of cases, CHS patients develop the accelerated phase characterized by pancytopenia, high fever, and lymphohistiocytic infiltration of liver, spleen, and lymph nodes. Treatment of accelerated-phase CHS is difficult and the prognosis is poor. Here, we report a case of CHS in a 2-year-old boy who presented in the accelerated phase of the disease. CHS diagnosis was made on the basis of clinical characteristics, hair analysis, and identification of pathognomonic giant azurophilic granules in peripheral blood and bone marrow. Copyright © 2015 King Faisal Specialist Hospital & Research Centre. Published by Elsevier Ltd. All rights reserved.

  2. Chediak-Higashi syndrome presenting in accelerated phase.

    Science.gov (United States)

    Imran, Tanzeel; Zafar, Lubna; Rehan, Madeeha; Nasir, Aqsa; Tariq, Parveen Akhtar; Batool, Iffat

    2012-08-01

    Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder, characterized by silver hair, recurrent infections, partial oculo-cutaneous albinism, mild coagulation defect and progressive neuropathy. The characteristic feature of CHS is the presence of huge lysosomes and cytoplasmic inclusions within different body cells like the white blood cells. The disease has an early onset but usually presents in an accelerated phase. We present a case of a 2 years old boy with high grade fever, bilateral cervical lymphadenopathy, hepatosplenomegaly, abdominal distention of 28 days duration. He was diagnosed with Chediak-Higashi syndrome in accelerated phase on the basis of clinical presentation, morphological findings on peripheral blood film and bone marrow aspirate.

  3. Accelerated Phase of Chediak-Higashi Syndrome at Initial Presentation: A Case Report of an Uncommon Occurrence in a Rare Disorder.

    Science.gov (United States)

    Jaiswal, Pooja; Yadav, Yogesh Kumar; Bhasker, Nilam; Kushwaha, Rashmi

    2015-12-01

    Chediak-Higashi syndrome (CHS) is an uncommon and fatal congenital disorder. The characteristic features of CHS are partial oculocutaneous albinism, increased vulnerability to infections, presence of abnormal large granules in leukocytes and an accelerated lymphohistiocytic phase. Accelerated phase at initial presentation is rarely seen as it is usually preceded by repeated episodes of infections. Hence this interesting case of a four-month-old Indian child born to consanguineous parents in accelerated phase at initial presentation is described. The boy presented with fever, hepatosplenomegaly, and cleft lip. Clinical diagnosis was leukemia or a lysosomal storage disorder. Cytopaenias, lymphohistiocytic infiltration in bone marrow, and the characteristic large granules in leucocytes helped in the diagnosis, emphasizing the importance of bone marrow in diagnosis of unusual presentation of this rare disorder.

  4. Utilizarea aditivului nutriţional în hrana stimulatoare a albinelor în perioada de primăvară

    Directory of Open Access Journals (Sweden)

    Nicolae EREMIA

    2016-12-01

    Full Text Available The paper presents the results of studying the influence of nutritional feed additive Vitacorm BSR (biogenic stimulator obtained from plant raw material through anaerobic bacterial fermentation on queens’ prolificacy, development degree and productivity of bee colonies. Three groups of bee colonies (Carpathian breed received with sugar syrup different doses of additive (1, 2 and 3 ml, administered every 10-12 days, from April 22 until the beginning of the main honey flow on black locust. Obtained data show that the optimum dose of the nutritional additive is 2.0 ml/l of sugar syrup in a concentration of 1:1. After the main honey flow on black locust (May 25 it was determined that the nutritional additive provided an increase of bee families power by 5.7 to 10.7 spaces among the combs populated by bees and an increase of honey production of 29.9 - 50.6%. The oviposition of the queens from the experimental groups was of 1069-1314 eggs in 24 hours or by 26.66-55.69 % more compared to the control group, which was fed only with sugar syrup (844 eggs. Rezumat. Lucrarea prezintă rezultatele studiului privind influenţa aditivului nutriţional Vitacorm BSR (stimulator biogen obţinut din materie primă vegetală prin fermentare bacteriană anaerobă asupra prolificităţii mătcilor, gradului de dezvoltare şi productivităţii familiilor de albine. Trei loturi de familii de albine (rasa Carpatică au primit împreună cu siropul de zahăr diferite doze de aditiv (1, 2 şi 3 ml, administrate odată la 10-12 zile, începând cu data de 22 aprilie şi până la începutul culesului principal de la salcâmul alb. Datele obţinute demonstrează că doza optimală a aditivului nutriţional este de 2,0 ml/l de sirop de zahăr în concentraţie de 1:1. După culesul de la salcâmul alb (25 mai s-a constatat că aditivul nutriţional a asigurat o creştere a puterii familiilor de albine cu 5,7-10,7 spaţii dintre faguri populaţi cu albine şi o majorare a

  5. Purification of Recombinant Human Tyrosinase from Insect Larvae Infected with the Baculovirus Vector.

    Science.gov (United States)

    Dolinska, Monika B; Wingfield, Paul T; Sergeev, Yuri V

    2017-08-01

    The purification of an enzyme from insect larvae infected with a baculovirus vector is described. The enzyme tyrosinase is of biomedical importance and catalyzes the first rate-limiting steps in melanin production. Tyrosinase mutations can result in oculocutaneous albinism type 1 (OCA1), an inherited eye disease associated with decreased melanin pigment production and vision defects. To simplify expression and subsequent purification, the extracellular domain is expressed in insect cells, produced in Trichoplusia ni larvae, and purified using affinity and size-exclusion chromatography. The purified recombinant human tyrosinase is a soluble monomeric glycoprotein with an activity that mirrors the tyrosinase in vivo function. © 2017 by John Wiley & Sons, Inc. Copyright © 2017 John Wiley & Sons, Inc.

  6. Organization and sequence of the human P gene and identification of a new family of transport proteins

    Energy Technology Data Exchange (ETDEWEB)

    Lee, S.T.; Fukai, K.; Spritz, R.A. [Univ. of Wisconsin School of Medicine, Madison, WI (United States)] [and others

    1995-03-20

    We have determined the structure, nucleotide sequence, and polymorphisms of the human P gene. Mutations of the P gene result in type H oculocutaneous albinism (OCA2) in humans and pink-eyed dilution (p) in mice. We find that the human P gene is quite large, consisting of 25 exons spanning 250 to 600 kb in chromosome segment 15q11-q13. The P polypeptide appears to define a novel family of small molecule transporters and may be involved in transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. These results provide the basis for analyses of patients with OCA2 and may point toward eventual pharmacologic treatment of this and related disorders of pigmentation. 40 refs., 5 figs., 3 tabs.

  7. Role of the Ubiquitin Proteasome System in Regulating Skin Pigmentation

    Directory of Open Access Journals (Sweden)

    Hideya Ando

    2009-10-01

    Full Text Available Pigmentation of the skin, hair and eyes is regulated by tyrosinase, the critical rate-limiting enzyme in melanin synthesis by melanocytes. Tyrosinase is degraded endogenously, at least in part, by the ubiquitin proteasome system (UPS. Several types of inherited hypopigmentary diseases, such as oculocutaneous albinism and Hermansky-Pudlak syndrome, involve the aberrant processing and/or trafficking of tyrosinase and its subsequent degradation which can occur due to the quality-control machinery. Studies on carbohydrate modifications have revealed that tyrosinase in the endoplasmic reticulum (ER is proteolyzed via ER-associated protein degradation and that tyrosinase degradation can also occur following its complete maturation in the Golgi. Among intrinsic factors that regulate the UPS, fatty acids have been shown to modulate tyrosinase degradation in contrasting manners through increased or decreased amounts of ubiquitinated tyrosinase that leads to its accelerated or decelerated degradation by proteasomes.

  8. Oral and dental findings of griscelli syndrome type 3

    Directory of Open Access Journals (Sweden)

    Ozlem Marti Akgun

    2015-09-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive genetic disorder characterized by variable immunodeficiency, partial albinism, abnormal accumulation of melanosomes in melanocytes, pigmentary dilution of the skin, and shiny silver-gray hair. GS has three types, with the first and second types caused by mutations in two genes being located at band 15q21: RAB27A and MYO5A. The expression of the third form of GS is restricted to the characteristic hypopigmentation of GS, and results from mutation in the gene that encodes melanophilin MLPH. It has also been shown that an identical phenotype can result from the deletion of the MYO5A F-exon. The aim of this case report is the presentation of oral and dental features and SEM images of the hair of a 12-year-old girl with GS type 3. [Arch Clin Exp Surg 2015; 4(3.000: 164-167

  9. NATATION - French version only

    CERN Multimedia

    2002-01-01

    Soyez nombreux à venir à la 17ème édition de GENÈVE NAGE 24 HEURES Du samedi 5 octobre, 14 heures au dimanche 6 octobre, 14 heures à la piscine des Vernets Chaque participant peut nager la longueur qu'il souhaite. Un classement d'entreprise est possible en vous inscrivant dans la catégorie « entreprise » sous le nom « CERN ». L'année dernière, le CERN avait obtenu la seconde place. Moyennant une plus grande participation, le CERN pourrait décrocher la première place cette année. Inscription gratuite à l'entrée de la piscine. Pour plus d'informations : Gino De Bilio, tél 7362 - Albin Wasem, tél 75865 - Catherine Delamare, tél 76085

  10. Generation of Hermansky Pudlak syndrome type 2 (HPS2 induced pluripotent stem cells (iPSCs

    Directory of Open Access Journals (Sweden)

    Jean Ann Maguire

    2016-03-01

    Full Text Available Hermansky–Pudlak syndrome type 2 (HPS2 is a rare autosomal recessive disorder resulting from functional mutations in the adaptor-related protein complex 3, beta 1 subunit (AP3B1 gene. This gene plays a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Here we describe the generation of an HPS2 iPS cell line (CHOPHPS2 using a Cre-excisable polycistronic STEMCCA lentivirus. This line was derived from human fibroblasts isolated from a patient carrying two mutations in the AP3B1 gene. The patient presented with severe neutropenia, ocular albinism, interstitial pulmonary fibrosis, hemorrhagic diathesis, and an absence of platelet-dense granules.

  11. Spectral Analysis by XANES Reveals that GPNMB Influences the Chemical Composition of Intact Melanosomes

    Energy Technology Data Exchange (ETDEWEB)

    T Haraszti; C Trantow; A Hedberg-Buenz; M Grunze; M Anderson

    2011-12-31

    GPNMB is a unique melanosomal protein. Unlike many melanosomal proteins, GPNMB has not been associated with any forms of albinism, and it is unclear whether GPNMB has any direct influence on melanosomes. Here, melanosomes from congenic strains of C57BL/6J mice mutant for Gpnmb are compared to strain-matched controls using standard transmission electron microscopy and synchrotron-based X-ray absorption near-edge structure analysis (XANES). Whereas electron microscopy did not detect any ultrastructural changes in melanosomes lacking functional GPNMB, XANES uncovered multiple spectral phenotypes. These results directly demonstrate that GPNMB influences the chemical composition of melanosomes and more broadly illustrate the potential for using genetic approaches in combination with nano-imaging technologies to study organelle biology.

  12. Possible hybridization of Brazilian planorbid snails and its importance in population dynamics.

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    Mello-Silva, C C; Grault, C E; da Costa, V A; Barbosa, F S

    1998-01-01

    This study focuses on the possibility of experimental hybridization among host snail species for Schistosoma mansoni in Brazil, with morphological characterization of the hybrids found. By using albinism as a genetic marker, intraspecific crossbreedings were performed between two strains of each species involved, in addition to interspecific crossbreedings; the only viable crossbreeding was between pigmented Biomphalaria glabrata (Paulista, PE) and albino B. tenagophila (Joinville, SC), with the formation of F1 and F2 generations. All offspring in F1 displayed black eyes and a renal ridge on the mantle, while F2 displayed dissociated morphological traits. With regard to reproduction, F1 was more efficient than F2. The experiment's results suggest post-zygotic reproductive isolation.

  13. Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9.

    Science.gov (United States)

    Okamura, Ken; Abe, Yuko; Araki, Yuta; Wakamatsu, Kazumasa; Seishima, Mariko; Umetsu, Takafumi; Kato, Atsushi; Kawaguchi, Masakazu; Hayashi, Masahiro; Hozumi, Yutaka; Suzuki, Tamio

    2018-03-01

    Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), a bleeding tendency, and ceroid deposition. Most of the causative genes for HPS encode subunits of the biogenesis of lysosome-related organelles complex (BLOC). In this study, we identified one patient each with HPS4, HPS6, and HPS9 by whole-exome sequencing. Next, we analyzed hair samples from the three patients and representative patients with HPS1 and controls using electron microscopy and chemical methods. All HPS patients had fewer, smaller, and more immature melanosomes than healthy controls. Further, all patients showed reduced total melanin content and increased levels of benzothiazine-type pheomelanin. The results of this study demonstrate the impact of the dysfunctions of BLOCs on the maturation of melanosomes and melanin levels and composition through analysis of their hair samples. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  14. Visual acuity, residual amblyopia and ocular pathology in a screened population of 12-13-year-old children in Sweden.

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    Ohlsson, J; Villarreal, G; Sjöström, A; Abrahamsson, M; Sjöstrand, J

    2001-12-01

    To establish the distribution of visual acuity and the prevalence of residual amblyopia and other ocular disorders in a vision-screened population group of 12-13-year-old children. In total 1046 children were examined in a field study in Sweden. The examination included visual acuity, stereopsis, cover testing, red reflex, refractive retinoscopy and examination of the posterior pole. In selected cases VEP was also performed. Visual acuity > or =1.0 in at least one eye was present in 98% of cases. Residual amblyopia (albinism was found in 7 cases. In 15 children the cause of subnormal VA was unexplained. Results for visual acuity, residual amblyopia and other ocular disorders are very similar to previous Nordic, vision-screened populations.

  15. Genetics for the ophthalmologist.

    Science.gov (United States)

    Sadagopan, Karthikeyan A; Capasso, Jenina; Levin, Alex V

    2012-09-01

    The eye has played a major role in human genomics including gene therapy. It is the fourth most common organ system after integument (skin, hair and nails), nervous system, and musculoskeletal system to be involved in genetic disorders. The eye is involved in single gene disorders and those caused by multifactorial etiology. Retinoblastoma was the first human cancer gene to be cloned. Leber hereditary optic neuropathy was the first mitochondrial disorder described. X-Linked red-green color deficiency was the first X-linked disorder described. The eye, unlike any other body organ, allows directly visualization of genetic phenomena such as skewed X-inactivation in the fundus of a female carrier of ocular albinism. Basic concepts of genetics and their application to clinical ophthalmological practice are important not only in making a precise diagnosis and appropriate referral, but also in management and genetic counseling.

  16. Genetics for the ophthalmologist

    Directory of Open Access Journals (Sweden)

    Karthikeyan A Sadagopan

    2012-01-01

    Full Text Available The eye has played a major role in human genomics including gene therapy. It is the fourth most common organ system after integument (skin, hair and nails, nervous system, and musculoskeletal system to be involved in genetic disorders. The eye is involved in single gene disorders and those caused by multifactorial etiology. Retinoblastoma was the first human cancer gene to be cloned. Leber hereditary optic neuropathy was the first mitochondrial disorder described. X-Linked red-green color deficiency was the first X-linked disorder described. The eye, unlike any other body organ, allows directly visualization of genetic phenomena such as skewed X-inactivation in the fundus of a female carrier of ocular albinism. Basic concepts of genetics and their application to clinical ophthalmological practice are important not only in making a precise diagnosis and appropriate referral, but also in management and genetic counseling.

  17. Técnica para produção de criptorquia experimental em ratos Technique for experimental cryptorchidism in rats

    Directory of Open Access Journals (Sweden)

    Elaine Alves

    1997-06-01

    Full Text Available Foram utilizados 18 ratos machos albinos Wistar, divididos em dois grupos de acordo com a idade e a época do sacrifício. Todos foram submetidos ao fechamento do ânulo inguinal superficial esquerdo para a produção de criptorquia experimental. Os animais de ambos os grupos sobreviveram ao procedimento e foram sacrificados no 30º. e no 60º. dias de pós-operatório. Todos apresentavam o testículo esquerdo retido.Eighteen albine Wistar rats were used, divided in two groups according to the age and the time of sacrifice. In all of then we have been closed the left superficial inguinal ring, with the goal of producing experimental cryptorchidism. All rats survived and were sacrifyed on the 30th and on 60th postoperative day. In all cases the left testis were inside the inguinal canal.

  18. Retinal projections to the subcortical visual system in congenic albino and pigmented rats

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    Fleming, Mark D.; Benca, Ruth M.; Behan, Mary

    2007-01-01

    The primary visual pathway in albino mammals is characterized by an increased decussation of retinal ganglion cell axons at the optic chiasm and an enhanced contralateral projection to the dorsal lateral geniculate nucleus. In contrast to the primary visual pathway, little is known about the organization of retinal input to most nuclei of the subcortical visual system in albino mammals. The subcortical visual system is a large group of retinorecipient nuclei in the diencephalon and mesencephalon. These areas mediate a range of behaviors that include both circadian and acute responses to light. We used a congenic strain of albino and pigmented rats with a mutation at the c locus for albinism (Fischer 344-c/+; La Vail and Lawson, 1986) to quantitatively assess the effects of albinism on retinal projections to a number of subcortical visual nuclei including the ventral lateral hypothalamus (VLH), ventral lateral preoptic area (VLPO), olivary pretectal nucleus (OPN), posterior limitans (PLi), commissural pretectal area (CPA), intergeniculate leaflet (IGL), ventral lateral geniculate nucleus (vLGN) and superior colliculus (SC). Following eye injections of the neuroanatomical tracer cholera toxin-β, the distribution of anterogradely transported label was measured. The retinal projection to the contralateral VLH, PLi, CPA and IGL was enhanced in albino rats. No significant differences were found between albino and pigmented rats in retinal input to the VLPO, OPN and vLGN. These findings raise the possibility that enhanced retinofugal projections to subcortical visual nuclei in albinos may underlie some light-mediated behaviors that differ between albino and pigmented mammals. PMID:16996223

  19. Genome editing using TALENs in blind Mexican Cavefish, Astyanax mexicanus.

    Directory of Open Access Journals (Sweden)

    Li Ma

    Full Text Available Astyanax mexicanus, a teleost fish that exists in a river-dwelling surface form and multiple cave-dwelling forms, is an excellent system for studying the genetic basis of evolution. Cavefish populations, which independently evolved from surface fish ancestors multiple times, have evolved a number of morphological and behavioral traits. Quantitative trait loci (QTL analyses have been performed to identify the genetic basis of many of these traits. These studies, combined with recent sequencing of the genome, provide a unique opportunity to identify candidate genes for these cave-specific traits. However, tools to test the requirement of these genes must be established to evaluate the role of candidate genes in generating cave-specific traits. To address this need, we designed transcription activator-like effector nucleases (TALENs to target two genes that contain coding changes in cavefish relative to surface fish and map to the same location as QTL for pigmentation, oculocutaneous albinism 2 (oca2 and melanocortin 1 receptor (mc1r. We found that surface fish genes can be mutated using this method. TALEN-induced mutations in oca2 result in mosaic loss of melanin pigmentation visible as albino patches in F0 founder fish, suggesting biallelic gene mutations in F0s and allowing us to evaluate the role of this gene in pigmentation. The pigment cells in the albino patches can produce melanin upon treatment with L-DOPA, behaving similarly to pigment cells in albino cavefish and providing additional evidence that oca2 is the gene within the QTL responsible for albinism in cavefish. This technology has the potential to introduce a powerful tool for studying the role of candidate genes responsible for the evolution of cavefish traits.

  20. N-Ethylmaleimide–Sensitive Factor b (nsfb) Is Required for Normal Pigmentation of the Zebrafish Retinal Pigment Epithelium

    Science.gov (United States)

    Hanovice, Nicholas J.; Daly, Christina M. S.; Gross, Jeffrey M.

    2015-01-01

    Purpose Despite the number of albinism-causing mutations identified in human patients and animal models, there remain a significant number of cases for which no mutation has been identified, suggesting that our understanding of melanogenesis is incomplete. Previously, we identified two oculocutaneous albinism mutations in zebrafish, au13 and au18. Here, we sought to identify the mutated loci and determine how the affected proteins contribute to normal pigmentation of the retinal pigment epithelium (RPE). Methods Complementation analyses revealed that au13 and au18 belonged to a single complementation group, suggesting that they affected the same locus. Whole-genome sequencing and single nucleotide polymorphism (SNP) analysis was performed to identify putative mutations, which were confirmed by cDNA sequencing and mRNA rescue. Transmission electron microscopy (TEM) and image quantification were used to identify the cellular basis of hypopigmentation. Results Whole-genome sequencing and SNP mapping identified a nonsense mutation in the N-ethylmaleimide–sensitive factor b (nsfb) gene in au18 mutants. Complementary DNA sequencing confirmed the presence of the mutation (C893T), which truncates the nsfb protein by roughly two-thirds (Y297X). No coding sequence mutations were identified in au13, but quantitative PCR revealed a significant decrease in nsfb expression, and nsfb mRNA injection rescued the hypopigmentation phenotype, suggesting a regulatory mutation. In situ hybridization revealed that nsfb is broadly expressed during embryonic development, including in the RPE. Transmission electron microscopy analyses indicated that average melanosome density and maturity were significantly decreased in nsfb mutants. Conclusions au18 and au13 contain mutations in nsfb, which encodes a protein that is required for the maturation of melanosomes in zebrafish RPE. PMID:26618645