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Sample records for hereditary crygs-mutated cataractous

  1. Deprivation amblyopia and congenital hereditary cataract.

    Science.gov (United States)

    Mansouri, Behzad; Stacy, Rebecca C; Kruger, Joshua; Cestari, Dean M

    2013-01-01

    Amblyopia is a neurodevelopmental disorder of vision associated with decreased visual acuity, poor or absent stereopsis, and suppression of information from one eye.(1,2) Amblyopia may be caused by strabismus (strabismic amblyopia), refractive error (anisometropic amblyopia), or deprivation from obstructed vision (deprivation amblyopia). 1 In the developed world, amblyopia is the most common cause of childhood visual impairment, 3 which reduces quality of life 4 and also almost doubles the lifetime risk of legal blindness.(5, 6) Successful treatment of amblyopia greatly depends on early detection and treatment of predisposing disorders such as congenital cataract, which is the most common cause of deprivational amblyopia. Understanding the genetic causes of congenital cataract leads to more effective screening tests, early detection and treatment of infants and children who are at high risk for hereditary congenital cataract.

  2. Rodent models of congenital and hereditary cataract in man.

    Science.gov (United States)

    Tripathi, B J; Tripathi, R C; Borisuth, N S; Dhaliwal, R; Dhaliwal, D

    1991-01-01

    Because the organogenesis and physiology of the lens are essentially similar in various mammals, an understanding of the etiology and pathogenesis of the formation of cataract in an animal model will enhance our knowledge of cataractogenesis in man. In this review, we summarize the background, etiology, and pathogenesis of cataracts that occur in rodents. The main advantages of using rodent mutants include the well-researched genetics of the animals and the comparative ease of breeding of large litters. Numerous rodent models of congenital and hereditary cataracts have been studied extensively. In mice, the models include the Cts strain, Fraser mouse, lens opacity gene (Lop) strain, Lop-2 and Lop-3 strains, Philly mouse, Nakano mouse, Nop strain, Deer mouse, Emory mouse, Swiss Webster strain, Balb/c-nct/nct mouse, and SAM-R/3 strain. The rat models include BUdR, ICR, Sprague-Dawley, and Wistar rats, the spontaneously hypertensive rat (SHR), the John Rapp inbred strain of Dahl salt-sensitive rat, as well as WBN/Kob, Royal College of Surgeons (RCS), and Brown-Norway rats. Other proposed models for the study of hereditary cataract include the degu and the guinea pig. Because of the ease of making clinical observations in vivo and the subsequent availability of the intact lens for laboratory analyses at different stages of cataract formation, these animals provide excellent models for clinicopathologic correlations, for monitoring of the natural history of the aging process and of metabolic defects, as well as for investigations on the effect of cataract-modulating agents and drugs, including the prospect of gene therapy.

  3. The Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families

    Directory of Open Access Journals (Sweden)

    Katia Perruccio

    2013-01-01

    Full Text Available Two 8- and 9-year-old brothers were referred to the Pediatric Oncology Unit, Perugia General Hospital, because of hyperferritinemia. Both had a history of bilateral cataract and epilepsy. Genetic investigation revealed two distinct mutations in iron haemostasis genes; homozygosity for the HFE gene H63D mutation in the younger and heterozygosity in the elder. Both displayed heterozygosity for C33T mutation in the ferritin light chain iron response element. A 7-year-old boy from another family was referred to our unit because of hyperferritinemia. Genetic analyses did not reveal HFE gene mutations. Family history showed that his mother was also affected by hyperferritinemia without HFE gene mutations. Magnetic resonance imaging in the mother was positive for iron overload in the spleen. Cataract was diagnosed in mother and child. Further genetic investigation revealed the C29G mutation of the ferritin light chain iron response element. C33T and C29G mutations in the ferritin light chain iron response element underlie the Hereditary Hyperferritinemia-Cataract Syndrome (HHCS. The HFE gene H63D mutation underlies Hereditary Haemochromatosis (HH, which needs treatment to prevent organ damages by iron overload. HHCS was definitively diagnosed in all three children. HHCS is an autosomal dominant disease characterized by increased L-ferritin production. L-Ferritin aggregates accumulate preferentially in the lens, provoking bilateral cataract since childhood, as unique known organ damage. Epilepsy in one case and the spleen iron overload in another could suggest the misleading diagnosis of HH. Consequently, the differential diagnosis between alterations of iron storage system was essential, particularly in children, and required further genetic investigation.

  4. Aqueous humor ferritin in hereditary hyperferritinemia cataract syndrome.

    Science.gov (United States)

    Lenzhofer, Markus; Schroedl, Falk; Trost, Andrea; Kaser-Eichberger, Alexandra; Wiedemann, Helmut; Strohmaier, Clemens; Hohensinn, Melchior; Strasser, Michael; Muckenthaler, Martina U; Grabner, Guenther; Aigner, Elmar; Reitsamer, Herbert A

    2015-04-01

    Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare autosomal dominant hereditary disease, characterized by hyperferritinemia but with absence of body iron excess and early onset of bilateral cataracts. Although 5- to 20-fold increased serum ferritin concentrations have been reported in HHCS patients, data of ferritin levels in aqueous humor have not been obtained. We therefore aimed to investigate the ferritin levels in aqueous humor and serum and further present histological and ultrastructural data of the lens. During cataract extraction and intraocular lens implantation, aqueous humor and lens aspirate of a 37-year-old HHCS patient were obtained from both eyes. Ferritin levels in serum and aqueous humor were quantitatively analyzed via immunoassays in the HHCS patient and healthy control subjects (n = 6). Lens aspirate in HHCS was analyzed histologically and at the ultrastructural level. Further, genetic mutation screening by polymerase chain reaction and DNA sequencing in blood was performed. Serum ferritin levels in the control group were 142.2 ± 38.7 μg/L, whereas in the HHCS patient, this parameter was excessively increased (1086 μg/L). Analysis of ferritin in aqueous humor revealed 6.4 ± 3.8 μg/L in normal control subjects and 146.3 μg/L (OD) and 160.4 μg/L (OS) in the HHCS patient. DNA analysis detected a C>A mutation on position +18, a T>G mutation on position +22, a T>C mutation on position +24, and a T>G polymorphism on position +26 in the iron-responsive element of the light-chain ferritin (L-ferritin) gene. In the HHCS patient, a 23-fold (OD) to 25-fold (OS) increased aqueous humor ferritin level was detected. Therefore, the formation of bilateral cataract in HHCS is most likely a result of elevated aqueous humor ferritin. In addition, a novel mutation in this rare disease in the iron-responsive element of L-ferritin gene is reported.

  5. Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract

    DEFF Research Database (Denmark)

    Hansen, Lars; Mikkelsen, Annemette; Nürnberg, Peter

    2009-01-01

    , and a gene conversion is the most likely mutational event causing this variant. Ten families had microcornea cataract, and a mutation was identified in eight of those. Most families displayed mixed phenotypes with nuclear, lamellar, and polar opacities and no apparent genotype-phenotype correlation emerged......PURPOSE: Identification of the causal mutations in 28 unrelated families and individuals with hereditary congenital cataract identified from a national Danish register of hereditary eye diseases. Seven families have been published previously, and the data of the remaining 21 families are presented...... together with an overview of the results in all families. METHODS: A combined screening approach of linkage analysis and sequencing of 17 cataract genes were applied to mutation analyses of total 28 families. RESULTS: The study revealed a disease locus in seven of eight families that were amenable...

  6. Studies on congenital hereditary cataract and microphthalmia of the miniature schnauzer dog.

    Science.gov (United States)

    Shastry, B S; Reddy, V N

    1994-09-30

    Hereditary cataract in dogs occurs as an autosomal recessive trait. The opacity is primarily in the lens nucleus and posterior cortex. The affected animals also have other ocular abnormalities such as microphthalmia. To understand the genetic basis of this disorder, we have analyzed leukocyte DNA from affected and normal dogs for possible mutations in the homeobox containing gene and myotonic dystrophy locus. The results show that there are no signs of microdeletion, insertion, point mutation and rearrangements in these loci. Although these observations cannot completely rule out the possibility of point mutations, they suggest that the above loci are unlikely to be associated with the disease.

  7. Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.

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    He, Wei; Li, Xin; Chen, Jiajing; Xu, Ling; Zhang, Feng; Dai, Qiushi; Cui, Hao; Wang, Duen-Mei; Yu, Jun; Hu, Songnian; Lu, Shan

    2011-03-01

    The aim of the study was to characterize the underlying mutation in a large multiplex Chinese family with hereditary nuclear cataract. A 6-generation Chinese family having hereditary nuclear cataract was recruited and clinically verified. Blood DNA samples were obtained from 53 available family members. Linkage analyses were performed on the known candidate regions for hereditary cataract with 36 polymorphic microsatellite markers. To identify mutations related to cataract, a direct sequencing approach was applied to a candidate gene residing in our linkage locus. A linkage locus was identified with a maximum 2-point LOD score of 4.31 (recombination fraction = 0) at marker D1S498 and a maximum multipoint LOD score of 5.7 between markers D1S2344 and D1S498 on chromosome 1q21.1, where the candidate gene Cx50 is located. Direct sequencing of Cx50 showed a 139 G to A transition occurred in all affected family members. This transitional mutation resulted in a replacement of aspartic acid by asparagine at residue 47 (D47N) and led to a loss-of-function of the protein. The D47N mutation of Cx50 causes the hereditary nuclear cataract in this family in an autosomal dominant mode of inheritance with incomplete penetrance.

  8. Cataracts

    Science.gov (United States)

    ... Oncology Oculoplastics/Orbit Refractive Management/Intervention Retina/Vitreous Uveitis Focus On Pediatric Ophthalmology ... Are Cataracts? Pediatric Cataracts Cataract Diagnosis and Treatment Cataract Surgery IOL Implants: Lens Replacement After Cataracts ...

  9. A novel frameshift mutation in CX46 associated with hereditary dominant cataracts in a Chinese family

    Directory of Open Access Journals (Sweden)

    Xiu-Kun Cui

    2017-05-01

    Full Text Available AIM: To investigate the genetic mutations that are associated the hereditary autosomal dominant cataract in a Chinese family. METHODS: A Chinese family consisting of 20 cataract patients (including 9 male and 11 female and 2 unaffected individuals from 5 generations were diagnosed to be a typical autosomal dominant cataract pedigree. Genomic DNA samples were extracted from the peripheral blood cells of the participants in this pedigree. Exon sequence was used for genetic mutation screening. In silico analysis was used to study the structure characteristics of connexin 46 (CX46 mutant. Immunoblotting was conduceted for testing the expression of CX46. RESULTS: To determine the involved genetic mutations, 11 well-known cataract-associated genes (cryaa, cryab, crybb1, crybb2, crygc, crygd, Gja3, Gja8, Hsf4, Mip and Pitx3 were chosen for genetic mutation test by using exon sequencing. A novel cytosine insertion at position 1195 of CX46 cDNA (c.1194_1195ins C was found in the samples of 5 tested cataract patients but not in the unaffected 2 individuals nor in normal controls, which resulted in 30 amino acids more extension in CX46C-terminus (cx46fs400 compared with the wild-type CX46. In silico protein structure analysis indicated that the mutant showed distinctive hydrophobicity and protein secondary structure compared with the wild-type CX46. The immunoblot results revealed that CX46 protein, which expressed in the aging cataract lens tissues, was absence in the proband lens. In contrast, CX50, alpha A-crystallin and alphaB-crystallin expressed equally in both proband and aging cataract tissues. Those results revealed that the cx46fs400 mutation could impair CX46 protein expression. CONCLUSION: The insertion of cytosine at position 1195 of CX46 cDNA is a novel mutation site that is associated with the autosomal dominant cataracts in this Chinese family. The C-terminal frameshift mutation is involved in regulating CX46 protein expression.

  10. Autophagy and UPR in alpha-crystallin mutant knock-in mouse models of hereditary cataracts.

    Science.gov (United States)

    Andley, Usha P; Goldman, Joshua W

    2016-01-01

    Knock-in mice provide useful models of congenital and age-related cataracts caused by α-crystallin mutations. R49C αA-crystallin and R120G αB-crystallin mutations are linked with hereditary cataracts. Knock-in αA-R49C+/- heterozygotes develop cataracts by 1-2months, whereas homozygote mice have cataracts at birth. The R49C mutation drastically reduces lens protein water solubility and causes cell death in knock-in mouse lenses. Mutant crystallin cannot function as a chaperone, which leads to protein aggregation and lens opacity. Protein aggregation disrupts the lens fiber cell structure and normal development and causes cell death in epithelial and fiber cells. We determined what aspects of the wild-type phenotype are age-dependently altered in the mutant lens. Wild-type, heterozygote (αA-R49C+/-), and homozygote (αA-R49C+/+) mouse lenses were assessed pre- and postnatally for lens morphology (electron microscopy, immunohistochemistry), and autophagy or unfolded protein response markers (immunoblotting). Morphology was altered by embryonic day 17 in R49C+/+ lenses; R49C+/- lens morphology was unaffected at this stage. Active autophagy in the lens epithelium of mutant lenses was indicated by the presence of autophagosomes using electron microscopy. Protein p62 levels, which are degraded specifically by autophagy, increased in αA-R49C mutant versus wild-type lenses, suggesting autophagy inhibition in the mutant lenses. The unfolded protein response marker XBP-1 was upregulated in adult lenses of αB-R120G+/+ mice, suggesting its role in lens opacification. Mutated crystallins alter lens morphology, autophagy, and stress responses. Therapeutic modulation of autophagic pathways may improve protein degradation in cataractous lenses and reduce lens opacity. This article is part of a Special Issue entitled Crystallin Biochemistry in Health and Disease. Copyright © 2015 Elsevier B.V. All rights reserved.

  11. Mouse models of cataract

    Indian Academy of Sciences (India)

    2009-12-31

    Dec 31, 2009 ... (Graw 2003), and one of the most important events is the in- teraction of the ... A comparison of eight different and independent Cryg mutations (figure 1) ..... in exclusive expression of the alternative isoform containing exon 1A.

  12. Effects of UV-B radiation on a hereditary suture cataract in mice

    International Nuclear Information System (INIS)

    Forker, Carina; Wegener, Alfred

    1997-01-01

    UV-B (290-320 nm, λ max = 305 nm) radiation and the Cat2 ns (suture cataract) mutation in mice affect both the anterior lens epithelium and the formation of the suture. A low dose of UV-B radiation (2.2 Jcm -2 ) induces similar anterior subcapsular and cortical lens opacities in wild type as in heterozygous mutant mice. The UV-B treatment of the mutant lenses, however, leads to an increase in the number of epithelial cell layers in the anterior central part as compared to the wild type indicating a more severe form of the cataract formation in mutants. In addition, mutants demonstrate a predisposition for a rupture of the posterior lens capsule, because from 2.9 Jcm -2 and higher, this phenomenon could always be observed in the UV-B treated mutants, but never in the treated wild type mice. The protein biochemical analyses were performed by gel electrophoresis and isoelectric focusing of extracts of total lenses or from defined areas of the lens (lens slice technique). These covered the patterns of those proteins already synthesized before irradiation, which in irradiated lenses in no case evidenced a difference to the untreated control, neither in the wild type nor in the mutants. In contrast, by analysing specifically those proteins, which are synthesized after irradiation, in both treated groups a protein with a molecular mass of about 31 kDa becomes discernable in both treated groups. In addition, the cataractous lenses demonstrate a significantly enhanced overall synthesis of water-soluble proteins after irradiation, which might promote the rupture of the posterior capsule at the posterior pole. The present study offers for the first time the possibility to discriminate between endogeneous (genetic) effects and exogeneous (environmental) effects in cataractogenesis and to study their interactive effects. The first set of experiments demonstrated a clear intensification of the hereditary cataract by the UV-B treatment. The study supports the hypothesis that

  13. Analysis of eye lens-specific genes in congenital hereditary cataracts and microphthalmia of the miniature schnauzer dog.

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    Zhang, R L; Samuelson, D A; Zhang, Z G; Reddy, V N; Shastry, B S

    1991-08-01

    The congenital hereditary cataracts and microphthalmia in the miniature schnauzer dog are inherited by an autosomal recessive mode. To understand the genetic basis of these diseases, the authors purified and analyzed leukocyte deoxyribonucleic acid (DNA) from affected and normal animals using a candidate gene approach. Because the genes that encode the lens-specific proteins, specifically, alpha, beta, and gamma crystallins and the membrane protein (MP26), are known to maintain the structure and function of the lens, the authors used complimentary DNA (cDNA) fragments that corresponded to the above genes to search for the mutations at their loci in the affected animals. They found no evidence of the gene deletion and rearrangement in any of the five loci. In addition, the hybridizable sequences of the dog DNA to the specific probes for the human chromosome 4 and 18 loci, which are reported to be involved in the abnormality of the human eye, seem to be unaffected. These data support the notion that the hereditary cataracts and microphthalmia in the dog may be associated with genes other than those reported for several animal systems.

  14. Genetics Home Reference: congenital cataracts, facial dysmorphism, and neuropathy

    Science.gov (United States)

    ... Eye Institute: Facts About Cataracts National Institute of Neurological Disorders and Stroke: Hereditary Neuropathies Educational Resources (5 links) Boston Children's Hospital: Cataracts in Children Centers for Disease Control ...

  15. Cataract Surgery

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    ... Oncology Oculoplastics/Orbit Refractive Management/Intervention Retina/Vitreous Uveitis Focus On Pediatric Ophthalmology ... Are Cataracts? Pediatric Cataracts Cataract Diagnosis and Treatment Cataract Surgery IOL Implants: Lens Replacement After Cataracts ...

  16. Recognizing Cataracts

    Science.gov (United States)

    ... age-related cataract. They recommend eating plenty of green leafy vegetables, fruits, nuts and other healthy foods. Also, don’t smoke, because smoking may speed cataract development. To screen for early signs of eye disease, Bishop recommends ...

  17. Aggregation of Trp > Glu point mutants of human gamma-D crystallin provides a model for hereditary or UV-induced cataract.

    Science.gov (United States)

    Serebryany, Eugene; Takata, Takumi; Erickson, Erika; Schafheimer, Nathaniel; Wang, Yongting; King, Jonathan A

    2016-06-01

    Numerous mutations and covalent modifications of the highly abundant, long-lived crystallins of the eye lens cause their aggregation leading to progressive opacification of the lens, cataract. The nature and biochemical mechanisms of the aggregation process are poorly understood, as neither amyloid nor native-state polymers are commonly found in opaque lenses. The βγ-crystallin fold contains four highly conserved buried tryptophans, which can be oxidized to more hydrophilic products, such as kynurenine, upon UV-B irradiation. We mimicked this class of oxidative damage using Trp→Glu point mutants of human γD-crystallin. Such substitutions may represent a model of UV-induced photodamage-introduction of a charged group into the hydrophobic core generating "denaturation from within." The effects of Trp→Glu substitutions were highly position dependent. While each was destabilizing, only the two located in the bottom of the double Greek key fold-W42E and W130E-yielded robust aggregation of partially unfolded intermediates at 37°C and pH 7. The αB-crystallin chaperone suppressed aggregation of W130E, but not W42E, indicating distinct aggregation pathways from damage in the N-terminal vs C-terminal domain. The W130E aggregates had loosely fibrillar morphology, yet were nonamyloid, noncovalent, showed little surface hydrophobicity, and formed at least 20°C below the melting temperature of the native β-sheets. These features are most consistent with domain-swapped polymerization. Aggregation of partially destabilized crystallins under physiological conditions, as occurs in this class of point mutants, could provide a simple in vitro model system for drug discovery and optimization. © 2016 The Protein Society.

  18. Cataract Vision Simulator

    Science.gov (United States)

    ... Oncology Oculoplastics/Orbit Refractive Management/Intervention Retina/Vitreous Uveitis Focus On Pediatric Ophthalmology ... Are Cataracts? Pediatric Cataracts Cataract Diagnosis and Treatment Cataract Surgery IOL Implants: Lens Replacement After Cataracts ...

  19. Cataract removal

    Science.gov (United States)

    ... placed into the eye to restore the focusing power of the old lens (cataract). It helps improve ... tests by the ophthalmologist. The doctor will use ultrasound or a laser scanning device to measure your ...

  20. Hereditary angioedema

    Science.gov (United States)

    ... disease; HAE- Hereditary angioedema; Kallikrein inhibitor-HAE: bradykinin receptor antagonist-HAE; C1-inhibitors-HAE; Hives-HAE ... aunt, uncle, or grandparent. Dental procedures, sickness (including colds and the flu), and surgery may trigger HAE ...

  1. Hereditary Diffuse Gastric Cancer

    Science.gov (United States)

    ... Hereditary Diffuse Gastric Cancer Request Permissions Hereditary Diffuse Gastric Cancer Approved by the Cancer.Net Editorial Board , 10/2017 What is hereditary diffuse gastric cancer? Hereditary diffuse gastric cancer (HDGC) is a rare ...

  2. Hereditary angioedema.

    Science.gov (United States)

    Bracho, Francisco A

    2005-11-01

    Hereditary angioedema is an autosomal-dominant deficiency of C1 inhibitor--a serpin inhibitor of kallikrein, C1r, C1s, factor XII, and plasmin. Quantitative or qualitative deficiency of C1 inhibitor leads to the generation of vasoactive mediators, most likely bradykinin. The clinical syndrome is repeated bouts of nonpruritic, nonpitting edema of the face, larynx, extermities, and intestinal viscera. Recently, investigators, physicians, and industry have demonstrated a renewed interest in the biology and treatment of hereditary angioedema. Investigators have generated a C1INH-/- mouse model that has demonstrated the importance of the contact activation system for hereditary angioedema-related vascular permeability. An interactive database of mutations is available electronically. Investigators have continued exploration into mRNA/protein levels. The proceedings of a recent workshop have been impressive in the scope and depth. Clinicians have produced consensus documents and expert reviews. The pharmaceutical industry has initiated clinical trails with novel agents. Hereditary angioedema is often misdiagnosed and poorly treated. Diagnosis requires careful medical and family history and the measurement of functional C1 inhibitor and C4 levels. Attenuated androgens, anti-fibrinolytics, and C1 inhibitor concentrates are used for long-term and preprocedure prophylaxis, but have significant drawbacks. C1 inhibitor concentrates and fresh frozen plasma are available for acute intervention. The mainstays of supportive care are airway monitoring, pain relief, hydration, and control of nausea. New agents such as recombinant C1 inhibitor, kallikrein inhibitors, and bradykinin inhibitors may offer safer and more tolerable treatments.

  3. Aging and Health: Cataracts

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    ... Problems Glaucoma Macular Degeneration Join our e-newsletter! Aging & Health A to Z Cataracts Basic Facts & Information ... Are Cataracts? Cataracts are a common result of aging and occur frequently in older people. About one ...

  4. Hereditary hyperferritinemia-cataract syndrome: Study of a new family in Spain Síndrome hereditario de hiperferritinemia y cataratas: Descripción de una nueva familia en España

    Directory of Open Access Journals (Sweden)

    J. M. Ladero

    2004-07-01

    Full Text Available The hyperferritinemia-cataract syndrome, inherited as a Mendelian dominant trait, is due to mutations in the 5’ non-coding region of the ferritin light chain gene that modifies the shape of the IRE (iron responsive element region, which loses its normal function of regulating the synthesis of ferritin light chains. Excess of light chains results in complexes that accumulate into the lens giving rise to early cataracts. We present a Spanish family with seven affected members through three generations. A genetic study reveals a substitution of a single base (C?T at position 33 in the IRE sequence in the index case and in one affected brother, whereas a non-affected sister shows the normal sequence. The hyperferritinemia-cataract syndrome was identified in 1995 and is still poorly understood. Clinicians should suspect it when treating any subject with early cataracts, even more if they are familial, or in patients with very high levels of ferritinemia without evidence of iron overload. There are no known consequences of the syndrome other than cataracts, and its proper diagnosis carries a favorable prognosis and eliminates the risk of unnecessary phlebotomies.El síndrome de hiperferritinemia y cataratas es un trastorno autosómico dominante debido a mutaciones en la región 5’ no codificante del gen de la cadena ligera de ferritina, localizado en 19q.3-q13,4. Como consecuencia se altera la morfología de la region IRE (iron responsive element que pierde su capacidad normal de regular la síntesis de cadenas ligeras de ferritina, las cuales se sintetizan en exceso y forman complejos que se acumulan en el cristalino, dando lugar a cataratas precoces. Se presenta una familia española con 7 miembros afectados en tres generaciones. El estudio genético pone de manifiesto un cambio de una sola base C?T en posición 33 del IRE en el caso index y un hermano, mientras que otra hermana no afecta del síndrome no mostraba mutaciones. Este síndrome se

  5. Hereditary hemochromatosis

    Directory of Open Access Journals (Sweden)

    Stephen A. Geller

    2015-03-01

    Full Text Available Hereditary hemochromatosis (HH is the most commonly identified autosomal recessive genetic disorder in the white population, characterized by increased intestinal iron absorption and secondary abnormal accumulation in parenchymal organs, not infrequently accompanied by functional impairment. This entity is associated with mutations of the HFE gene (located on the short arm of chromosome 6 at location 6p22.2; closely linked to the HLA-A3 locus, which encodes the HFE protein, a membrane protein thought to regulate iron absorption by affecting the interaction between transferrin receptor and transferrin.

  6. Ultrasonographic findings of cataract

    International Nuclear Information System (INIS)

    Choi, Sun Seob; Kim, Yang Soo; Lee, Kwan Seh; Kim, Kun Sang

    1985-01-01

    Examining the eye with high resolution ultrasonography, authors encountered 34 cases (41 eyeballs) of cataract and found out its characteristic ultrasonographic findings, though cataract is easily recognized by physician on inspection. Ultrasonographic findings of cataract were as follows; 1. Thickening of lens due to edema. 2. Demonstration of lens echo in whole circumference. 3. Multiple internal lens echo

  7. Prognostic importance of congenital cataract morphology: A case report

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    Çağrı İlhan

    2018-02-01

    Full Text Available Congenital cataract (CC has an important place in pediatric ocular diseases. CCs are different from senile nuclear cataracts in terms of their etiologic, clinic and morphological characteristics. CCs occur many different forms such as non-hereditary isolated cases or autosomal dominant bilateral cases. In addition, many of ocular and systemic diseases can be associated with CC and ophthalmologist should be aware of these potential risks. In this article, we questioned whether the different morphological features of CC have prognostic importance or effect decision of surgery by considering a case of CC.

  8. The lens and cataracts.

    Science.gov (United States)

    Matthews, Andrew G

    2004-08-01

    It is conservatively estimated that some form of lens opacity is present in 5% to 7% of horses with otherwise clinically normal eyes.These opacities can range from small epicapsular remnants of the fetal vasculature to dense and extensive cataract. A cataract is defined technically as any opacity or alteration in the optical homogeneity of the lens involving one or more of the following: anterior epithelium, capsule, cortex, or nucleus. In the horse, cataracts rarely involve the entire lens structure (ie, complete cataracts) and are more usually localized to one anatomic landmark or sector of the lens. Complete cataracts are invariably associated with overt and significant visual disability. Focal or incomplete cataracts alone seldom cause any apparent visual dysfunction in affected horses,however.

  9. Childhood cataract: home to hospital.

    OpenAIRE

    Muhit, MA

    2004-01-01

    Globally, there are 190,000 children who are blind from cataract.1 Cataract in children may be present at birth (congenital cataract) or may appear anytime during the first few years of life (developmental cataract). Childhood cataract is the most common treatable cause of childhood blindness, being responsible for 10-30% of all childhood blindness. A recent national study in Bangladesh showed that 1 in every 3 blind children is unnecessarily blind from congenital/developmental cataract.

  10. Atomic bomb cataracts

    International Nuclear Information System (INIS)

    Shiraeda, Kanji

    1992-01-01

    Eye disturbance caused by atomic bomb radiation can be divided into three groups: direct injury immediately after exposure, eye lesions associated with radiation syndrome, and delayed disturbance. The crystalline lens of the eye is the most radiosensitive. Atomic bomb cataract has been investigated in a number of studies. The first section of this chapter discusses radiation cataract in terms of the incidence and characteristics. The second section deals with atomic bomb cataract, which can be diagnosed based on the four criteria: (1) opacity of the crystalline lens, (2) a history of proximal exposure, (3) lack of eye disease complicating cataract, and (4) non-exposure to radiation other than atomic bombing. The prevalence of cataract and severity of opacity are found to correlate with exposure doses and age at the time of exposure. Furthermore, it is found to correlate with distance from the hypocenter, the condition of shielding, epilation, and the presence or absence or degree of radiation syndrome. (N.K.)

  11. Genetics Home Reference: hereditary pancreatitis

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Hereditary pancreatitis Hereditary pancreatitis Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Hereditary pancreatitis is a genetic condition characterized by recurrent episodes ...

  12. Cataract Surgery in Uveitis

    Directory of Open Access Journals (Sweden)

    Rupesh Agrawal

    2012-01-01

    Full Text Available Cataract surgery in uveitic eyes is often challenging and can result in intraoperative and postoperative complications. Most uveitic patients enjoy good vision despite potentially sight-threatening complications, including cataract development. In those patients who develop cataracts, successful surgery stems from educated patient selection, careful surgical technique, and aggressive preoperative and postoperative control of inflammation. With improved understanding of the disease processes, pre- and perioperative control of inflammation, modern surgical techniques, availability of biocompatible intraocular lens material and design, surgical experience in performing complicated cataract surgeries, and efficient management of postoperative complications have led to much better outcome. Preoperative factors include proper patient selection and counseling and preoperative control of inflammation. Meticulous and careful cataract surgery in uveitic cataract is essential in optimizing the postoperative outcome. Management of postoperative complications, especially inflammation and glaucoma, earlier rather than later, has also contributed to improved outcomes. This manuscript is review of the existing literature and highlights the management pearls in tackling complicated cataract based on medline search of literature and experience of the authors.

  13. Viscoless microincision cataract surgery

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    Guy Sallet

    2008-06-01

    Full Text Available Guy SalletDepartment of Opthamology, Aalsters Stedelijk Ziekenhuis, BelgiumAbstract: A cataract surgery technique is described in which incisions, continuous circular capsulorhexis and hydrodissection are made without the use of any viscoelastics. Two small incisions are created through which the different parts of the procedure can take place, maintaining a stable anterior chamber under continuous irrigation. Subsequent bimanual phacoemulsification can be done through these microincisions. At the end of the procedure, an intraocular lens can be inserted through the self-sealing incision under continuous irrigation. 50 consecutive cataract patients were operated on without the use of viscoelastics and then compared with a group of 50 patients who had been helped with viscoelastics. No difference in outcome, endothelial cell count or pachymetry was noted between the two groups. No intraoperative complication was encountered. Viscoless cataract surgery was a safe procedure with potential advantages.Keywords: ophthalmic visco-surgical device, viscoless cataract surgery, microincision

  14. Solar ultraviolet radiation cataract.

    Science.gov (United States)

    Löfgren, Stefan

    2017-03-01

    Despite being a treatable disease, cataract is still the leading cause for blindness in the world. Solar ultraviolet radiation is epidemiologically linked to cataract development, while animal and in vitro studies prove a causal relationship. However, the pathogenetic pathways for the disease are not fully understood and there is still no perfect model for human age related cataract. This non-comprehensive overview focus on recent developments regarding effects of solar UV radiation wavebands on the lens. A smaller number of fundamental papers are also included to provide a backdrop for the overview. Future studies are expected to further clarify the cellular and subcellular mechanisms for UV radiation-induced cataract and especially the isolated or combined temporal and spatial effects of UVA and UVB in the pathogenesis of human cataract. Regardless of the cause for cataract, there is a need for advances in pharmaceutical or other treatment modalities that do not require surgical replacement of the lens. Copyright © 2016. Published by Elsevier Ltd.

  15. Learning about Hereditary Hemochromatosis

    Science.gov (United States)

    Skip to main content Learning About Hereditary Hemochromatosis Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research ...

  16. Hereditary haemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Kjeldsen, A D; Vase, P; Green, A

    1999-01-01

    Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease characterized by telangiectatic lesions. The disease manifestations are variable and include epistaxis, gastrointestinal bleeding, pulmonary arteriovenous malformations and cerebral arteriovenous malformations. Early...

  17. Acute traumatic cataracts

    International Nuclear Information System (INIS)

    Titelbaum, D.S.; Grossman, R.I.; Lloyd, W.C.; Cohen, E.J.; Atlas, S.W.

    1989-01-01

    This paper reports orbital CT scans of 15 patients with clinically diagnoses traumatic cataracts retrospectively reviewed to determine the presence of radiographically detectable lens abnormalities. Definite lens swelling was clinically observed in a lease five cases. Eleven patients, scanned 4 hours of 3 days after injury, revealed visible and measured decreased CT density of the cataractous lens compared with the normal contralateral lens (average mean difference, 28 HU), suggesting acute lens swelling. In one patient, lens morphologic changes but not HU differences were found, probably due to superimposed hemorrhage. Three patients, scanned 3-8 hours after injury, revealed no detectable lens abnormality. The findings suggest that CT is potentially capable of identifying traumatic cataracts

  18. Radiation and cataract

    International Nuclear Information System (INIS)

    Rehani, M. M.; Vano, E.; Ciraj-Bjelac, O.; Kleiman, N. J.

    2011-01-01

    When this paper was about to go to press, the International Commission on Radiological Protection released a statement recommending a change in the threshold dose for the eye lens and dose limits for eye for occupationally exposed persons. It is clear that the earlier published threshold for radiation cataract is no longer valid. Epidemiological studies among Chernobyl clean-up workers, A bomb survivors, astronauts, residents of contaminated buildings, radiological technicians and recent surveys of staff in interventional rooms indicate that there is an increased incidence of lens opacities at doses below 1 Gy. Nevertheless, eye lens dosimetry is at a primitive stage and needs to be developed further. Despite uncertainties concerning dose threshold and dosimetry, it is possible to significantly reduce the risk of radiation cataract through the use of appropriate eye protection. By increasing awareness among those at risk and better adoption and increased usage of protective measures, radiation cataract can become preventable despite lowering of dose limits. (authors)

  19. Cytomegalovirus Congenital Cataract

    Directory of Open Access Journals (Sweden)

    Ridha Wahyutomo

    2011-06-01

    Full Text Available Cytomegalovirus congenital infection is an infection caused by the the subfamily â Herpesviridae, during pregnancy. The incidence of infections among newborn infants is 1 %. One of the effects of congenitally acquired infection is the congenital cataract. A 6-year-old child complained to have a blurred vision diagnosed with cytomegalovirus congenital cataract. The diagnosis was confirmed by a positive serology testing for Ig M and Ig G CMV. The laboratory test using Giemsa staining to find inclusion bodies and a faster PCR could not be carried out (Sains Medika, 3(1:84-88.

  20. Hyperferritinemia without iron overload in patients with bilateral cataracts: a case series

    Directory of Open Access Journals (Sweden)

    Mumford Andrew

    2011-09-01

    Full Text Available Abstract Introduction Hepatologists and internists often encounter patients with unexplained high serum ferritin concentration. After exclusion of hereditary hemochromatosis and hemosiderosis, rare disorders like hereditary hyperferritinemia cataract syndrome should be considered in the differential diagnosis. This autosomal dominant syndrome, that typically presents with juvenile bilateral cataracts, was first described in 1995 and has an increasing number of recognized molecular defects within a regulatory region of the L-ferritin gene (FTL. Case presentation Two patients (32 and 49-year-old Caucasian men from our ambulatory clinic were suspected as having this syndrome and a genetic analysis was performed. In both patients, sequencing of the FTL 5' region showed previously described mutations within the iron responsive element (FTL c.33 C > A and FTL c.32G > C. Conclusion Hereditary hyperferritinemia cataract syndrome should be considered in all patients with unexplained hyperferritinemia without signs of iron overload, particularly those with juvenile bilateral cataracts. Liver biopsy and phlebotomy should be avoided in this disorder.

  1. Cataract surgery among Medicare beneficiaries.

    Science.gov (United States)

    Schein, Oliver D; Cassard, Sandra D; Tielsch, James M; Gower, Emily W

    2012-10-01

    To present descriptive epidemiology of cataract surgery among Medicare recipients in the United States. Cataract surgery performed on Medicare beneficiaries in 2003 and 2004. Medicare claims data were used to identify all cataract surgery claims for procedures performed in the United States in 2003-2004. Standard assumptions were used to limit the claims to actual cataract surgery procedures performed. Summary statistics were created to determine the number of procedures performed for each outcome of interest: cataract surgery rates by age, sex, race and state; surgical volume by facility type and surgeon characteristics; time interval between first- and second-eye cataract surgery. The national cataract surgery rate for 2003-2004 was 61.8 per 1000 Medicare beneficiary person-years. The rate was significantly higher for females and for those aged 75-84 years. After adjustment for age and sex, blacks had approximately a 30% lower rate of surgery than whites. While only 5% of cataract surgeons performed more than 500 cataract surgeries annually, these surgeons performed 26% of the total cataract surgeries. Increasing surgical volume was found to be highly correlated with use of ambulatory surgical centers and reduced time interval between first- and second-eye surgery in the same patient. The epidemiology of cataract surgery in the United States Medicare population documents substantial variation in surgical rates by race, sex, age, and by certain provider characteristics.

  2. cataract surgical services

    African Journals Online (AJOL)

    countries of Asia, Africa, and Latin. America (3,4). With an estimated 12,000 bilaterally blind people ... (OMA's). 1 general medical practitioner. Loptometry technician. 1 general nurse and. 3 health assistants. Ocular morbidities cataract and aphakia corneal scarring/phthisis glaucoma refractive errors others. Percent. 52.4.

  3. Connexin mutants and cataracts

    Directory of Open Access Journals (Sweden)

    Eric C Beyer

    2013-04-01

    Full Text Available The lens is a multicellular, but avascular tissue that must stay transparent to allow normal transmission of light and focusing of it on the retina. Damage to lens cells and/or proteins can cause cataracts, opacities that disrupt these processes. The normal survival of the lens is facilitated by an extensive network of gap junctions formed predominantly of connexin46 and connexin50. Mutations of the genes that encode these connexins (GJA3 and GJA8 have been identified and linked to inheritance of cataracts in human families and mouse lines. In vitro expression studies of several of these mutants have shown that they exhibit abnormalities that may lead to disease. Many of the mutants reduce or modify intercellular communication due to channel alterations (including loss of function or altered gating or due to impaired cellular trafficking which reduces the number of gap junction channels within the plasma membrane. However, the abnormalities detected in studies of other mutants suggest that they cause cataracts through other mechanisms including gain of hemichannel function (leading to cell injury and death and formation of cytoplasmic accumulations (that may act as light scattering particles. These observations and the anticipated results of ongoing studies should elucidate the mechanisms of cataract development due to mutations of lens connexins and abnormalities of other lens proteins. They may also contribute to our understanding of the mechanisms of disease due to connexin mutations in other tissues.

  4. Phacoemulsification in subluxated cataract.

    Directory of Open Access Journals (Sweden)

    Praveen M

    2003-01-01

    Full Text Available Purpose: To evaluate the outcome of phacoemulsification in eyes with subluxated cataract. Materials and Methods: This retrospective study comprised 22 eyes of 20 consecutive patients with subluxated cataracts of varying aetiology operated between March 1998 and March 2001. Detailed preoperative assessment included visual acuity (VA, slitlamp examination, presence of vitreous in anterior chamber, extent of subluxation, intraocular pressure (IOP and detailed fundus examination. Phacoemulsification was done to retain the natural bag support and all patients had acrylic foldable Acrysof IOL implantation either in-the-bag or by scleral fixation. Postoperative observations included best-corrected visual acuity (BCVA, IOP, pupillary reaction and the IOL position. Results: The aetiology of the subluxation was traumatic in 11 patients and non-traumatic in 9 patients. Fifteen were males and 5 were females. Mean follow-up was 11.7 ± 9.71 months (range 4-39. The average age was 39.15 ± 16.33 (range 5 - 74. A 2-port anterior chamber vitrectomy was performed in 6 eyes (27.2%. Capsule tension ring (CTR was implanted in 15 eyes (68.18%. Twelve eyes (54.5% had in-the-bag implants, while 5 (22.72% had scleral fixation. The remaining 5 eyes (22.72% had one haptic in-the-bag and another sutured to sclera. No major intraoperative complications were noted. Twelve eyes (54.5% had clinically and geometrically well centered IOLs while 9 eyes (40.9% had geometrically decentered IOLs. One patient was lost to follow-up. Fifteen eyes (55.55% had postoperative BCVA of 6/12 - 6/6 while 2 eyes (7.40% had BCVA of 6/18. The remaining 4 eyes (14.81% had less than 6/24 BCVA due to pre-existing posterior segment pathology. Postoperative complications included rise in IOP in 1 eye (4.54%, pupillary capture of the IOL optic in 2 eyes (9.09%; the same 2 eyes (9.09% required redialing of IOL. One eye (4.54% had to undergo refixation (one haptic was fixed to sclera year after cataract

  5. Cataract surgery output and cost of hospitalization for cataract ...

    African Journals Online (AJOL)

    Si nous devons réussir à éliminer les arrièrs problèmes des cataracts de plus de ½ million cas, nos efforts sur la chirurgie de cataracte devraient porter principalement sur des programmes visant sur des measures preventives contre les incidences de la cécité. 106 cas des chirurgies cataracts avaient été opérées Durant la ...

  6. Hereditary Hearing Loss.

    Science.gov (United States)

    Tran, LenhAnh P.; Grundfast, Kenneth M.

    1997-01-01

    This article discusses inheritance patterns in hearing loss, epidemiology, clues to genetic causes, locating genes that cause hereditary disorders, genes related to hearing loss disorders in individuals with Usher syndrome, Waardenburg syndrome, Treacher-Collins syndrome, Branchio-oto-renal and Pendred syndromes, and the significance of finding…

  7. Hereditary periodic fever syndromes

    NARCIS (Netherlands)

    McDermott, MF; Frenkel, J

    Hereditary periodic fever syndromes are defined by recurrent attacks of generalised inflammation for which no infectious or auto-immune cause can be identified. For most of these disorders, the molecular basis has recently been elucidated. This has opened the prospect of novel therapeutic

  8. Three cases of extracapsular cataract extraction for radiation cataract

    International Nuclear Information System (INIS)

    Hirokane, Kenji; Kosaka, Toshiya; Nii, Hiroki; Kiuchi, Yoshiaki; Nakano, Kensuke; Choshi, Kanji

    1996-01-01

    Extracapsular cataract extraction and intraocular lens implantation was performed on 4 eyes of 3 patients with radiation cataract. Case 1 was a 60-year-old man who was exposed to the ionizing radiation of the atomic bomb in Hiroshima 730 meters from the center of the explosion. He developed atomic bomb radiation senile cataracts in both eyes. Despite cataract surgery, a central plaque remained on the posterior capsule in the region corresponding to the central dense opacity in both eyes. Case 2 was an 81-year-old man who was in a streetcar 1,000 meters from the center of the explosion at the time of the atomic bombing. Senile and radiation-induced cataract decreased the visual acuity in both eyes. After extracapsular cataract extraction in his right eye, central opacification and a fibrous white membrane remained on the posterior capsule. These were removed by Nd-YAG laser capsulotomy six days after surgery. Case 3 was a 56-year-old man who developed radiation cataract after radiation therapy to a malignant lymphoma in the right orbit. Phacoemulsification and aspiration could not remove the fibrous white membrane from the posterior capsule in this case. Central opacities and fibrous white membranes on the posterior capsule after cataract surgery appears to be a characteristic of radiation cataract. (author)

  9. Radiation-induced cataract

    International Nuclear Information System (INIS)

    Martignoni, K.

    1986-01-01

    Dose assessments for cataract threshold doses are available based on epidemiological studies of radiotherapy patients, survivors of the nuclear bombing of Hiroshima and Nagasaki, and of persons with occupational exposure to radiation. According to these, short-term application of low-level LET radiation of a dose ranging between 0.5 and 2.0 Gy may suffice to cause a cataract in the course of a few months or years which results in inpairment of vision (UNSCEAR, 1982). In fractionated irradiation, cataractogenic threshold dose increases to 4 Sv at treatment times between 3 weeks and 3 months, and to more than 5 Sv at more than 3 months (ICRP 41). Densely ionizing radiation must be assumed to have threshold doses between 2 and 20 Sv. An ICRP assessment (ICRP Publ. No. 41, 1984) gives a threshold dose of more than 8 Sv for a vision-impairing cataract if these was protracted irradiation at a low-level dose rate. Concerning radiation protection, a maximum lens dose of 150 mSv per annum was recommended which should not be exceeded. This indicates a maximum of 7.5 Sv of exposure throughout a period of 50 years of working life. (orig./HP) [de

  10. IOL Implants: Lens Replacement and Cataract Surgery (Intraocular Lenses)

    Science.gov (United States)

    ... Oncology Oculoplastics/Orbit Refractive Management/Intervention Retina/Vitreous Uveitis Focus On Pediatric Ophthalmology ... Are Cataracts? Pediatric Cataracts Cataract Diagnosis and Treatment Cataract Surgery IOL Implants: Lens Replacement After Cataracts ...

  11. Paediatric cataract: challenges and complications

    Directory of Open Access Journals (Sweden)

    Dr P Vijayalakshmi

    2016-10-01

    Full Text Available Amblyopia should always be anticipated in children with unilateral cataract, asymmetrical bilateral cataracts (or where there is a delay between the first and second eye operation, or a delay of more than a year between diagnosis/ detection and surgery, cataracts with anisometropia or traumatic cataracts with corneal scars. When amblyopia is detected, occlusion therapy (eye patching must be instituted at the earliest opportunity. The patching regimen is the same with any strabismic amblyopia and sometimes needs to be aggressive at the start. It is crucial to explain the need for patching to the parents, since compliance is the greatest obstacle to the success of amblyopia treatment.

  12. Hereditary breast cancer

    DEFF Research Database (Denmark)

    Larsen, Martin J; Thomassen, Mads; Gerdes, Anne-Marie

    2014-01-01

    Pathogenic mutations in BRCA1 or BRCA2 are only detected in 25% of families with a strong history of breast cancer, though hereditary factors are expected to be involved in the remaining families with no recognized mutation. Molecular characterization is expected to provide new insight...... into the tumor biology to guide the search of new high-risk alleles and provide better classification of the growing number of BRCA1/2 variants of unknown significance (VUS). In this review, we provide an overview of hereditary breast cancer, its genetic background, and clinical implications, before focusing...... on the pathologically and molecular features associated with the disease. Recent transcriptome and genome profiling studies of tumor series from BRCA1/2 mutation carriers as well as familial non-BRCA1/2 will be discussed. Special attention is paid to its association with molecular breast cancer subtypes as well...

  13. "Ant-egg" cataract revisited

    DEFF Research Database (Denmark)

    Clemmensen, Kåre; Enghild, Jan J; Ivarsen, Anders

    2017-01-01

    -ray scans and electron microscopy. The purpose of this study was to further characterize "ant-egg" cataract using modern technology and display the history of the "ant-eggs" after cataract extraction. METHODS: "Ant-eggs" were examined using Heidelberg SPECTRALIS Optical Coherence Tomography (OCT...

  14. Hereditary pancreatitis for the endoscopist

    OpenAIRE

    Patel, Milan R.; Eppolito, Amanda L.; Willingham, Field F.

    2013-01-01

    Hereditary pancreatitis shares a majority of clinical and morphologic features with chronic alcoholic pancreatitis, but may present at an earlier age. The term hereditary pancreatitis has primarily been associated with mutations in the serine protease 1 gene (PRSS1) which encodes for cationic trypsinogen. PRSS1 mutations account for approximately 68–81% of hereditary pancreatitis. Mutations in other genes, primarily serine protease inhibitor Kazal type 1 (SPINK1) and the cystic fibrosis trans...

  15. EAMJ Oct Hereditary.indd

    African Journals Online (AJOL)

    HEREDITARY GINGIVAL FIBROMATOSIS: REPORT OF FAMILY CASE SERIES. E. G. Wagaiyu ... Senior Lecturer, Department of Periodontology/Community and Preventive Dentistry, ... fibrous connective tissue held in chronically inflamed.

  16. Genetics Home Reference: hereditary fructose intolerance

    Science.gov (United States)

    ... Twitter Home Health Conditions Hereditary fructose intolerance Hereditary fructose intolerance Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Hereditary fructose intolerance is a condition that affects a person's ...

  17. Etiopathogenesis of cataract: An appraisal

    Directory of Open Access Journals (Sweden)

    Varun B Gupta

    2014-01-01

    Full Text Available Natural eye lens is a crystalline substance to produce a clear passage for light. Cataract is opacity within the clear lens of the eye and is the dominant cause of socio-medical problem i.e., blindness worldwide. The only available treatment of cataract is surgery. However, insufficient surgical facilities in poor and developing countries and post-operative complications inspire researchers to find out other modes of treatment for cataract. In this review, an attempt has been made to appraise various etiological factors of cataract to make their perception clear to build up counterpart treatment. Present study is an assortment of various available literatures and electronic information in view of cataract etiopathogenesis. Various risk factors have been identified in development of cataracts. They can be classified in to genetic factors, ageing (systemic diseases, nutritional and trace metals deficiencies, smoking, oxidative stress etc., traumatic, complicated (inflammatory and degenerative diseases of eye, metabolic (diabetes, galactosemia etc., toxic substances including drugs abuses, alcohol etc., radiation (ultraviolet, electromagnetic waves etc. are implicated as significant risk factors in the development of cataract.

  18. Hereditary angioedema in women

    Directory of Open Access Journals (Sweden)

    Bouillet Laurence

    2010-07-01

    Full Text Available Abstract Women with hereditary angioedema (HAE are more likely to be symptomatic that men. Hormonal factors (puberty, contraception, pregnancy,.... play a significant role in the precipitation or worsening of the condition in women. So, combined contraceptive pills are not indicated and progestogen pill must be preferred. During pregnancy, attack rate can increase (38-48% of women. C1Inhibitor concentrate and tranexamic acid can be used during pregnancy. Attenuated androgens for long term prophylaxis are effective but side effects appear more often in female patients. These side effects are dose dependant and can be attenuated by titrating the dose down the lowest effective level.

  19. Hereditary Angioedema in Childhood

    DEFF Research Database (Denmark)

    Kjaer, Line; Bygum, Anette

    2012-01-01

    Hereditary angioedema (HAE) is a rare inherited disease that is often difficult to diagnose. We report a case of a 9-year-old boy with a spontaneous mutation causing HAE, diagnosed after a life-threatening episode of angioedema of the head and upper respiratory tract after a 5-year history of r...... of recurrent skin swellings and abdominal pain leading to several hospital admissions. The aim of this report is to direct focus on this rare disease, which can be treated effectively, to diminish morbidity and mortality of children suffering from undiagnosed HAE....

  20. Startle responses in hereditary hyperekplexia

    NARCIS (Netherlands)

    Tijssen, M. A.; Voorkamp, L. M.; Padberg, G. W.; van Dijk, J. G.

    1997-01-01

    BACKGROUND: Patients with hereditary hyperekplexia have excessive startle responses that are accompanied by transient stiffness and also continuous stiffness in infancy. A point of mutation has been identified for the major form of hereditary hyperekplexia in the gene encoding the alpha 1 subunit of

  1. Startle responses in hereditary hyperekplexia

    NARCIS (Netherlands)

    Tijssen, MAJ; Voorkamp, LM; Padberg, GW; vanDijk, JG

    Background: Patients with hereditary hyperekplexia have excessive startle responses that are accompanied by transient stiffness and also continuous stiffness in infancy. A point of mutation has been identified for the major form of hereditary hyperekplexia in the gene encoding the alpha 1 subunit of

  2. Congenital cataract screening

    Directory of Open Access Journals (Sweden)

    Zhale Rajavi

    2016-01-01

    Full Text Available Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  3. Pediatric cataract surgery in Madagascar

    African Journals Online (AJOL)

    2013-03-28

    Mar 28, 2013 ... Results: A total of 60.5 percent of the 86 children operated on during ... cataract, an avoidable cause of blindness and visual disability in children on the island nation. .... counseling services, reimbursement of transportation,.

  4. Combined keratoplasty and cataract extraction.

    Science.gov (United States)

    Demeler, U; Hinzpeter, E N

    1977-04-01

    A short film showing our technique of combined penetrating keratoplasty and intracapsular cataract extraction was shown, and the postoperative results in 72 eyes after an average of 3 years were reported.

  5. The global burden of cataract.

    Science.gov (United States)

    Rao, Gullapalli N; Khanna, Rohit; Payal, Abhishek

    2011-01-01

    To review the previous year's literature related to prevalence of blindness in general, blindness due to cataract, cataract surgical coverage (CSC) and cataract surgical rates (CSRs). Cataracts are the major cause of blindness and visual impairment in developing countries and contributes to more than 90% of the total disability adjusted life years. This review shows that coverage continues to be a problem in many countries, especially for the female population, those residing in rural areas and those who are illiterate. Although CSR is an indicator of the availability and acceptability of services, for measuring the impact of the program, we should look at combining CSR with CSC. This strategy would also enable us achieve our goal of eliminating avoidable blindness due to cataracts by the year 2020. Cataracts still continue- to be a major cause of blindness globally and with the rapidly aging population, it is a challenge to tackle. We need to plan a comprehensive strategy addressing issues related to availability, affordability, accessibility and acceptability of eye-care services.

  6. Hereditary neuromuscular diseases

    Energy Technology Data Exchange (ETDEWEB)

    Oezsarlak, O. E-mail: ozkan.ozsarlak@uza.be; Schepens, E.; Parizel, P.M.; Goethem, J.W. van; Vanhoenacker, F.; Schepper, A.M. de; Martin, J.J

    2001-12-01

    This article presents the actual classification of neuromuscular diseases based on present expansion of our knowledge and understanding due to genetic developments. It summarizes the genetic and clinical presentations of each disorder together with CT findings, which we studied in a large group of patients with neuromuscular diseases. The muscular dystrophies as the largest and most common group of hereditary muscle diseases will be highlighted by giving detailed information about the role of CT and MRI in the differential diagnosis. The radiological features of neuromuscular diseases are atrophy, hypertrophy, pseudohypertrophy and fatty infiltration of muscles on a selective basis. Although the patterns and distribution of involvement are characteristic in some of the diseases, the definition of the type of disease based on CT scan only is not always possible.

  7. Hereditary colorectal cancer diagnostics

    DEFF Research Database (Denmark)

    Klarskov, Louise; Holck, Susanne; Bernstein, Inge

    2012-01-01

    BackgroundThe hereditary non-polyposis colorectal cancer (HNPCC) subset of tumours can broadly be divided into tumours caused by an underlying mismatch-repair gene mutation, referred to as Lynch syndrome, and those that develop in families with similar patterns of heredity but without disease......-predisposing germline mismatch repair mutations, referred to as familial colorectal cancer type X (FCCTX). Recognition of HNPCC-associated colorectal cancers is central since surveillance programmes effectively reduce morbidity and mortality. The characteristic morphological features linked to Lynch syndrome can aid...... in the identification of this subset, whereas the possibility to use morphological features as an indicator of FCCTX is uncertain.Objective and methodsTo perform a detailed morphological evaluation of HNPCC-associated colorectal cancers and demonstrate significant differences between tumours associated with FCCTX...

  8. Hereditary spastic paraplegia.

    Science.gov (United States)

    Blackstone, Craig

    2018-01-01

    The hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurologic disorders with the common feature of prominent lower-extremity spasticity, resulting from a length-dependent axonopathy of corticospinal upper motor neurons. The HSPs exist not only in "pure" forms but also in "complex" forms that are associated with additional neurologic and extraneurologic features. The HSPs are among the most genetically diverse neurologic disorders, with well over 70 distinct genetic loci, for which about 60 mutated genes have already been identified. Numerous studies elucidating the molecular pathogenesis underlying HSPs have highlighted the importance of basic cellular functions - especially membrane trafficking, mitochondrial function, organelle shaping and biogenesis, axon transport, and lipid/cholesterol metabolism - in axon development and maintenance. An encouragingly small number of converging cellular pathogenic themes have been identified for the most common HSPs, and some of these pathways present compelling targets for future therapies. Copyright © 2018 Elsevier B.V. All rights reserved.

  9. Hereditary chronic pancreatitis

    Directory of Open Access Journals (Sweden)

    Mössner Joachim

    2007-01-01

    Full Text Available Abstract Hereditary chronic pancreatitis (HCP is a very rare form of early onset chronic pancreatitis. With the exception of the young age at diagnosis and a slower progression, the clinical course, morphological features and laboratory findings of HCP do not differ from those of patients with alcoholic chronic pancreatitis. As well, diagnostic criteria and treatment of HCP resemble that of chronic pancreatitis of other causes. The clinical presentation is highly variable and includes chronic abdominal pain, impairment of endocrine and exocrine pancreatic function, nausea and vomiting, maldigestion, diabetes, pseudocysts, bile duct and duodenal obstruction, and rarely pancreatic cancer. Fortunately, most patients have a mild disease. Mutations in the PRSS1 gene, encoding cationic trypsinogen, play a causative role in chronic pancreatitis. It has been shown that the PRSS1 mutations increase autocatalytic conversion of trypsinogen to active trypsin, and thus probably cause premature, intrapancreatic trypsinogen activation disturbing the intrapancreatic balance of proteases and their inhibitors. Other genes, such as the anionic trypsinogen (PRSS2, the serine protease inhibitor, Kazal type 1 (SPINK1 and the cystic fibrosis transmembrane conductance regulator (CFTR have been found to be associated with chronic pancreatitis (idiopathic and hereditary as well. Genetic testing should only be performed in carefully selected patients by direct DNA sequencing and antenatal diagnosis should not be encouraged. Treatment focuses on enzyme and nutritional supplementation, pain management, pancreatic diabetes, and local organ complications, such as pseudocysts, bile duct or duodenal obstruction. The disease course and prognosis of patients with HCP is unpredictable. Pancreatic cancer risk is elevated. Therefore, HCP patients should strongly avoid environmental risk factors for pancreatic cancer.

  10. Hereditary familial vestibular degenerative diseases.

    NARCIS (Netherlands)

    Sun, J.; Alphen, A.M. van; Wagenaar, M.; Huygen, P.L.M.; Hoogenraad, C.C.; Hasson, T.; Koekkoek, S.K.; Bohne, B.A.; Zeeuw, C.I. de

    2001-01-01

    Identification of genes involved in hereditary vestibular disease is growing at a remarkable pace. Mutant mouse technology can be an important tool for understanding the biological mechanism of human vestibular diseases.

  11. Hereditary forms of breast cancer

    International Nuclear Information System (INIS)

    Bella, V.

    2009-01-01

    Breast cancer is the most common oncologic disease in the female population. Besides the sporadic occurrence it occurs in the familial and hereditary form. Persons with the occurrence of positive family anamnesis of breast cancer should be actively investigated. In the indicated cases it is necessary to send the woman to genetic examination. In case that the hereditary form of breast cancer is affirmed it is necessary to examine her family relatives. Women with the hereditary form of breast cancer occur in about 5 – 10 % portion from all women diagnosed with breast cancer. Nowadays we already know that 80 % of hereditary breast cancers are due to germ mutations in BRCA 1 and BRCA 2 gene. Persons with detected gene mutations must be dispensarized in the centres intended for it. (author)

  12. Genetics Home Reference: hypomyelination and congenital cataract

    Science.gov (United States)

    ... Eye Institute: Facts About Cataract National Institute of Neurological Disorders and Stroke: Peripheral Neuropathy Fact Sheet Educational Resources (5 links) Boston Children's Hospital: Cataracts in Children Boston Children's Hospital: Nervous ...

  13. Advances in hard nucleus cataract surgery

    Directory of Open Access Journals (Sweden)

    Wei Cui

    2013-11-01

    Full Text Available Security and perfect vision and fewer complications are our goals in cataract surgery, and hard-nucleus cataract surgery is always a difficulty one. Many new studies indicate that micro-incision phacoemulsification in treating hard nucleus cataract is obviously effective. This article reviews the evolution process of hard nuclear cataract surgery, the new progress in the research of artificial intraocular lens for microincision, and analyse advantages and disadvantages of various surgical methods.

  14. Cerebral gigantism (Sotos' syndrome) and cataracts.

    Science.gov (United States)

    Yeh, H; Price, R L; Lonsdale, D

    1978-01-01

    A five-year-old girl with cerebral gigantism (Sotos' syndrome) and cataracts is described. Sotos' syndrome, characterized by generalized gigantism with normal endocrine studies has rarely been reported with ocular abnormalities and never with cataracts. It is important to study any child with cataracts for systemic disease.

  15. Immediate Sequential Bilateral Cataract Surgery

    DEFF Research Database (Denmark)

    Kessel, Line; Andresen, Jens; Erngaard, Ditte

    2015-01-01

    The aim of the present systematic review was to examine the benefits and harms associated with immediate sequential bilateral cataract surgery (ISBCS) with specific emphasis on the rate of complications, postoperative anisometropia, and subjective visual function in order to formulate evidence......-based national Danish guidelines for cataract surgery. A systematic literature review in PubMed, Embase, and Cochrane central databases identified three randomized controlled trials that compared outcome in patients randomized to ISBCS or bilateral cataract surgery on two different dates. Meta-analyses were...... performed using the Cochrane Review Manager software. The quality of the evidence was assessed using the GRADE method (Grading of Recommendation, Assessment, Development, and Evaluation). We did not find any difference in the risk of complications or visual outcome in patients randomized to ISBCS or surgery...

  16. Hereditary pancreatitis: current perspectives

    Directory of Open Access Journals (Sweden)

    Raphael KL

    2016-07-01

    Full Text Available Kara L Raphael, Field F Willingham Division of Digestive Diseases, Department of Medicine, Emory University School of Medicine, Atlanta, GA, USA Abstract: Hereditary pancreatitis (HP is a rare cause of acute, recurrent acute, and chronic pancreatitis. It may present similarly to other causes of acute and chronic pancreatitis, and often there has been a protracted evaluation prior to the diagnosis of HP. Since it was first described in 1952, multiple genetic defects that affect the action of digestive enzymes in the pancreas have been implicated. The most common mutations involve the PRSS1, CFTR, SPINK1, and CTRC genes. New mutations in these genes and previously unrecognized mutations in other genes are being discovered due to the increasing use of next-generation genomic sequencing. While the inheritance pathways of these genetic mutations may be variable and complex, sometimes involving coinheritance of other mutations, the clinical presentation of patients tends to be similar. Interactions with environmental triggers often play a role. Patients tend to present at an early age (prior to the second decade of life and have a significantly increased risk for the development of pancreatic adenocarcinoma. Patients with HP may develop sequelae of chronic pancreatitis such as strictures and fluid collections as well as exocrine and endocrine insufficiency. Management of patients with HP involves avoidance of environmental triggers, surveillance for pancreatic adenocarcinoma, medical therapy for endocrine and exocrine insufficiency, pain management, and endoscopic or surgical treatment for complications. Care for affected patients should be individualized, with an emphasis on early diagnosis and multidisciplinary involvement to develop a comprehensive treatment strategy. Keywords: pancreatic cancer, chronic pancreatitis, idiopathic pancreatitis, pancreatitis, familial pancreatitis, genetic mutations

  17. Factors associated with strabismus after cataract extraction and primary intraocular lens implantation in congenital cataracts

    Directory of Open Access Journals (Sweden)

    Soo Jung Lee

    2014-06-01

    Full Text Available AIM: To evaluate factors associated with the development of strabismus after cataract extraction and primary intraocular lens implantation.METHODS: The medical records of 122 patients, aged 1.5mo to 9y, who had undergone cataract extraction with primary intraocular lens implantation between January 1993 and August 2011 were reviewed. Fourteen patients (17 eyes with strabismus before cataract surgery were excluded. Patients were divided into those with congenital bilateral cataracts (64 patients, 128 eyes and those with unilateral cataracts (44 patients, 44 eyes. The associations between the development of strabismus and age at cataract surgery, pre- and post-cataract extraction corrected distance visual acuity (CDVA, interocular CDVA difference, nystagmus, surgical method, and secondary cataract were evaluated.RESULTS: Factors significantly associated with the development of strabismus included age at cataract surgery (≤1y, preoperative mean CDVA ≤20/100, presence of nystagmus in the bilateral cataract group and postoperative interocular CDVA difference >20/70 in the unilateral group. Postoperative CDVA ≤20/100 and preservation of posterior capsule, and presence of secondary cataract were significant factors in both groups.CONCLUSION: Children with congenital cataracts should be monitored carefully after cataract surgery for the development of strabismus, especially when they underwent surgery at age ≤1y, and they have nystagmus, large postoperative interocular CDVA difference, poor preoperative and postoperative CDVA, preservation of the posterior capsule, or secondary cataract.

  18. The Pediatric Cataract Register (PECARE)

    DEFF Research Database (Denmark)

    Haargaard, Birgitte; Nyström, Alf; Rosensvärd, Annika

    2015-01-01

    examination with a pencil light at age 5 weeks, whereas newborn red reflex examination using a handheld ophthalmoscope is routine protocol in Swedish maternity wards. Data regarding age of referral were derived from the Pediatric Cataract Register (PECARE). All children operated on before 1 year of age...

  19. Genetics Home Reference: hereditary diffuse gastric cancer

    Science.gov (United States)

    ... Health Conditions Hereditary diffuse gastric cancer Hereditary diffuse gastric cancer Printable PDF Open All Close All Enable Javascript ... Diffuse Gastric Cancer MedlinePlus Encyclopedia: Gastric Cancer National Cancer ... Option Overview General Information from MedlinePlus ( ...

  20. Cellular characteristics of hereditary diseases of man

    International Nuclear Information System (INIS)

    Sasaki, Masao

    1978-01-01

    Hereditary diseases of which abnormal characters could be detected at cultured cell level were introduced, and tissue cultures of them were described. Characteristics such as reproduction, disorder, elimination, and repair of DNA in hereditary diseases with high cancer risk such as Bloom syndrome, etc. were investigated. Radiosensitivity of these hereditary diseases was also described, and factors of carcinogenesis were investigated. (Serizawa, K.)

  1. Drug therapy for hereditary cancers

    Directory of Open Access Journals (Sweden)

    Imyanitov Evgeny N

    2011-08-01

    Full Text Available Abstract Tumors arising in patients with hereditary cancer syndromes may have distinct drug sensitivity as compared to their sporadic counterparts. Breast and ovarian neoplasms from BRCA1 or BRCA2 mutation carriers are characterized by deficient homologous recombination (HR of DNA, that makes them particularly sensitive to platinum compounds or inhibitors of poly (ADP-ribose polymerase (PARP. Outstandingly durable complete responses to high dose chemotherapy have been observed in several cases of BRCA-related metastatic breast cancer (BC. Multiple lines of evidence indicate that women with BRCA1-related BC may derive less benefit from taxane-based treatment than other categories of BC patients. There is virtually no reports directly assessing drug response in hereditary colorectal cancer (CRC patients; studies involving non-selected (i.e., both sporadic and hereditary CRC with high-level microsatellite instability (MSI-H suggest therapeutic advantage of irinotecan. Celecoxib has been approved for the treatment of familial adenomatous polyposis (FAP. Hereditary medullary thyroid cancers (MTC have been shown to be highly responsive to a multitargeted tyrosine kinase inhibitor vandetanib, which exerts specific activity towards mutated RET receptor. Given the rapidly improving accessibility of DNA analysis, it is foreseen that the potential predictive value of cancer-associated germ-line mutations will be increasingly considered in the future studies.

  2. Immunophenotyping of hereditary breast cancer

    NARCIS (Netherlands)

    van der Groep, P.

    2009-01-01

    Hereditary breast cancer runs in families where several family members in different generations are affected. Most of these breast cancers are caused by mutations in the high penetrance genes BRCA1 and BRCA2 which account for about 5% of all breast cancers. However, mutations in BRCA1 and BRCA2 may

  3. Genetics Home Reference: hereditary hemochromatosis

    Science.gov (United States)

    ... Type 1 hemochromatosis results from mutations in the HFE gene, and type 2 hemochromatosis results from mutations in ... about the genes associated with hereditary hemochromatosis HAMP HFE HJV PNPLA3 SLC40A1 TFR2 Related Information What is a gene? What is a gene mutation and how do ...

  4. Adrenomyeloneuropathy associated with congenital cataract

    International Nuclear Information System (INIS)

    Komori, Tetsuo; Nagashima, Toshiko; Hirose, Kazuhiko; Tanabe, Hitoshi; Tsubaki, Tadao

    1988-01-01

    Two cases of adrenomyeloneuropathy (AMN) in a family and the results of their MRI study are reported. Case 1, a 24-year-old male proband, was admitted to our hospital because of gait disturbance for three years. Bilateral cataracts were pointed out at birth, which required left side lenticotomy at age four. Neurological examinations on admission revealed a marked spastic paraparesis with pathological reflexes and a mild hypesthesia in the distal part of the left leg. No abnormal findings were detected in X-ray studies on the spine and spinal cord, electromyography and nerve conduction test. Serum very long chain fatty acids (VLCFAs) levels were apparently elevated, and the serum cortisol response to ACTH was low. Case 2, a 53-year-old woman, is the mother of Case 1 having a complaint of gait disturbance since age 51. She presented a mild spastic paraparesis with localized hypesthesia in the distal part of the both legs. She also had bilateral congenital cataracts. Her serum VLCFAs analysis indicated the intermediate levels between that of AMN and the normal control. Adrenal functions were normal. Cranial MRI (TR 2,000 msec/TE 80 msec) study disclosed high signal intensity areas in bilateral internal capsules in Case 1. These findings, suggesting the pathological change of dysmyelination, seemed to be well compatible with the clinical pictures. With these clinical findings and the laboratory data, these two cases were diagnosed as AMN. In addition, association of congenital cataract with AMN in both cases was characteristic in this family, which hasn't been reported in the literature. On regarding the genetic background of these two disorders, AMN and congenital cataract, it was speculated that each gene could be closely located on the same or very adjacent locus, possibly on Xq. (author)

  5. Patient satisfaction with cataract surgery

    Directory of Open Access Journals (Sweden)

    Wasfi Ehab I

    2008-10-01

    Full Text Available Abstract Introduction Measuring the patient satisfaction is a very important issue that will help very much in improving the service provided to patients and improve the level of satisfaction. Aim To evaluate patient satisfaction with the cataract surgery service and identify any areas for improvement, determination of patient satisfaction with referral, out-patient consultation, pre-assessment clinic, surgery and post-operative care, also to report patients' comments relating to improvement in service provision. Methodology A retrospective study was undertaken for 150 patients underwent cataract surgery at Barrow General Hospital, UK, the survey sample was by postal questionnaires. We collected our data from the theatre lists for a period of 4 month. Results This study included 150 patients; the response rate was (72% 108 patients, Most patients were referred from their general practitioner 86.1%, 93 (86.1% patients were happy with the time interval from seeing their GP to eye clinic. In the eye out patient department many factors significantly affected the level of patient satisfaction, in general the more information provided for the patient the more the satisfaction. Conclusion Patient satisfaction is on important health outcome old understanding both the domains of satisfaction as well as their relative importance to patients is necessary to improve the overall quality of patient care. Meeting the doctor, presenting all relevant information and giving printed information are very important factors in improving the patient's satisfaction with cataract surgery.

  6. The global state of cataract blindness.

    Science.gov (United States)

    Lee, Cameron M; Afshari, Natalie A

    2017-01-01

    Cataracts are a significant cause of blindness and visual impairment worldwide. The present article reviews the literature and describes the current extent of cataracts globally, barriers to treatment, and recommendations for improving the treatment of cataracts. Prevalence and absolute number of blind because of cataracts remain high, although rates are declining in many areas globally. The age-standardized prevalence of blindness in adults older than 50 remains highest in western sub-Saharan Africa, with a rate of 6.0%. The greatest declines in age-standardized blindness because of cataracts in adults older than 50 between 1990 and 2010 were in East Asia, tropical Latin America, and western Europe. Recent studies have largely found higher rates of cataracts in women than in men. A new simulator for training ophthalmologists in manual small-incision cataract surgery holds promise for the future. The rates of cataract surgery are increasing and postoperative outcomes are improving worldwide, yet challenges to reducing the cataract burden further remain. Cost, an insufficient number of ophthalmologists, and low government funding remain significant barriers but investment in further eye care infrastructure and training of additional ophthalmologists would improve the current situation.

  7. New treatments of hereditary blindness

    DEFF Research Database (Denmark)

    Bertelsen, Mette; Rosenberg, Thomas; Larsen, Michael

    2013-01-01

    Ongoing clinical trials are targeting several previously intractable hereditary causes of blindness of congenital, childhood or early adulthood onset, mainly in the optic nerve and retina. The intended stage of initiation of the new therapeutic approaches ranges from neonatal life and a structura......Ongoing clinical trials are targeting several previously intractable hereditary causes of blindness of congenital, childhood or early adulthood onset, mainly in the optic nerve and retina. The intended stage of initiation of the new therapeutic approaches ranges from neonatal life...... and a structurally intact retinal tissue to adult life with a complete loss of photoreceptors. It must be assumed that some of the trials will succeed in producing new therapies and action must be taken to refine and accelerate diagnostics and to preserve therapeutic potential in blind people....

  8. Hereditary breast and ovarian cancer

    DEFF Research Database (Denmark)

    Nielsen, Finn Cilius; Hansen, Thomas van Overeem; Sørensen, Claus Storgaard

    2016-01-01

    Genetic abnormalities in the DNA repair genes BRCA1 and BRCA2 predispose to hereditary breast and ovarian cancer (HBOC). However, only approximately 25% of cases of HBOC can be ascribed to BRCA1 and BRCA2 mutations. Recently, exome sequencing has uncovered substantial locus heterogeneity among...... of putative causal variants and the clinical application of new HBOC genes in cancer risk management and treatment decision-making....

  9. Visual Outcome of Cataract Surgery | Ukponmwan | Nigerian ...

    African Journals Online (AJOL)

    Purpose: To assess the visu al ou tcome of cataract su rgery in a tertiary hosp ital in Nigeria. Methods: Three hu nd red and seventy eyes (370) that had cataract su rgery in the op hthalmology d ep artment of University of Benin Teaching Hosp ital (UBTH) from July 2007 to December 2008 were includ ed in the stu d y.

  10. Evaluation of Complications of Extracapsular Cataract Extraction ...

    African Journals Online (AJOL)

    hanumantp

    Department of Ophthalmology, University of Nigeria Teaching Hospital, Enugu, 1Department of Ophthalmology, Guinness. Eye Centre, Onitsha, Nigeria. Abstract .... Br J Ophthalmol 2007;91:1315‑7. 6. Hennig A. Sutureless non‑phaco cataract surgery: A solution to reduce worldwide cataract blindness? Community Eye.

  11. Pediatric cataract surgery in Madagascar | Randrianotahina ...

    African Journals Online (AJOL)

    Conclusions: In Madagascar, presentation for congenital and developmental cataract is very late, visual outcome poor and follow‑up inadequate. There is an urgent need for a childhood blindness program to effectively deal with pediatric cataract, an avoidable cause of blindness and visual disability in children on the island ...

  12. Retrobulbar versus subconjunctival anesthesia for cataract surgery ...

    African Journals Online (AJOL)

    Objectives: To compare the effectiveness, in terms of pain relief and akinesia of retrobulbar and subconjunctival an aesthesia during cataract surgery and also to compare the degree of postoperative ptosis associated with each technique. Materials and Methods: Consecutive adult patients undergoing cataract surgery ...

  13. Prevalence of Cataract Blindness in Rural Ethiopia

    African Journals Online (AJOL)

    Bernt Lindtjørn

    Background: Over three-quarter of all blindness worldwide are preventable and usually caused by cataract and trachoma. Objective: To assess the ... Ophthalmologists from other areas conduct cataract operations once or twice each ... Some patients may have two eyes disorder causing visual impairment. The accepted ...

  14. Visual function of cataract with high myopia

    Directory of Open Access Journals (Sweden)

    Jian-Tao Ren

    2013-09-01

    Full Text Available Cataract with high myopia is research priority associated with the large amount of high myopia patients. The unaided visual acuity and the best-corrected visual acuity are partial for the visual acuity of the patients with cataract. The mechanism and clinical significance of modern visual function measurements associated with cataract and high myopia, including accommodation and convergence, stereoscopic vision, contrast sensitivity, have been introduced. These measurements could be of great value in early diagnosis of cataract, assessment of surgical indication, customized intraocular lens(IOLselection and evaluation of visual performance after IOL implantation. They could also be helpful to the analysis of postoperative impaired visual function and its management. Having an adequate understanding of the contents and significance of visual function was helpful to the improvement of cataract surgery techniques and postoperative visual acuity.

  15. Femtosecond laser-assisted compared with standard cataract surgery for removal of advanced cataracts.

    Science.gov (United States)

    Hatch, Kathryn M; Schultz, Tim; Talamo, Jonathan H; Dick, H Burkhard

    2015-09-01

    To compare effective phacoemulsification time (EPT) for the removal of brunescent cataracts treated with femtosecond laser-assisted cataract surgery with standard cataract phacoemulsification techniques. Ruhr University Eye Hospital, Bochum, Germany. Comparative prospective case study. The Lens Opacities Classification System III (LOCS III) grading system was used to measure eyes divided into 4 groups having cataract surgery. Groups 1 and 2 contained eyes with LOCS III grade nuclear opalescence (NO) 3 cataracts treated with standard cataract surgery and femtosecond laser-assisted cataract surgery, respectively. Groups 3 and 4 contained brunescent cataracts, LOCS III grades NO5, treated with standard cataract surgery and femtosecond laser-assisted cataract surgery, respectively. There were 240 eyes, with 60 eyes in each group. The EPT in Group 1 ranged from 0.46 to 3.10 (mean 1.38); the EPT in all eyes in Group 2 was 0 (P Talamo, and Dick are consultants to Abbott Medical Optics, Inc. Dr. Schultz has no financial or proprietary interest in any material or method mentioned. Copyright © 2015 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  16. Identification of cataract and post-cataract surgery optical images using artificial intelligence techniques.

    Science.gov (United States)

    Acharya, Rajendra Udyavara; Yu, Wenwei; Zhu, Kuanyi; Nayak, Jagadish; Lim, Teik-Cheng; Chan, Joey Yiptong

    2010-08-01

    Human eyes are most sophisticated organ, with perfect and interrelated subsystems such as retina, pupil, iris, cornea, lens and optic nerve. The eye disorder such as cataract is a major health problem in the old age. Cataract is formed by clouding of lens, which is painless and developed slowly over a long period. Cataract will slowly diminish the vision leading to the blindness. At an average age of 65, it is most common and one third of the people of this age in world have cataract in one or both the eyes. A system for detection of the cataract and to test for the efficacy of the post-cataract surgery using optical images is proposed using artificial intelligence techniques. Images processing and Fuzzy K-means clustering algorithm is applied on the raw optical images to detect the features specific to three classes to be classified. Then the backpropagation algorithm (BPA) was used for the classification. In this work, we have used 140 optical image belonging to the three classes. The ANN classifier showed an average rate of 93.3% in detecting normal, cataract and post cataract optical images. The system proposed exhibited 98% sensitivity and 100% specificity, which indicates that the results are clinically significant. This system can also be used to test the efficacy of the cataract operation by testing the post-cataract surgery optical images.

  17. Childhood Cataract: Magnitude, Management, Economics and Impact

    Directory of Open Access Journals (Sweden)

    BR Shamanna

    2004-01-01

    Full Text Available The prevalence of blindness among children in different regions varies from 0.2/1000 children to over 1.5/1000 children with a global figure estimated at 0.7/1000. This means that there are an estimated 1.4 million blind children worldwide.1 The proportion of blindness in children due to cataract varies considerably between regions from 10%-30% with a global average estimated at 14%, giving 190,000 children blind from cataract. 2 While the magnitude of childhood cataracts varies from place to place, it is a priority within all blindness control programmes for children. Children who are blind have to overcome a lifetime of emotional, social and economic difficulties which affect the child, the family and society.3 Loss of vision in children influences their education, employment and social life. The numbers blind with cataract do not reflect the years of disability and lost quality of life. Childhood blindness is second only to adult cataract as a cause of blind-person years. Approximately 70 million blind-person years are caused by childhood blindness of which about 10 million blind-person years (14% is due to childhood cataract. Timely recognition and intervention can eliminate blind-years due to childhood cataract, as the condition is treatable.

  18. Hereditary iron and copper deposition

    DEFF Research Database (Denmark)

    Aaseth, Jan; Flaten, Trond Peder; Andersen, Ole

    2007-01-01

    Hereditary deposition of iron (primary haemochromatosis) or copper (Wilson's disease) are autosomal recessive metabolic disease characterized by progressive liver pathology and subsequent involvement of various other organs. The prevalence of primary haemochromatosis is approximately 0.5%, about......, they may be inadequate in patients diagnosed so late that extensive body deposits of metal have been developed. The main research needs in this field are to further clarify molecular mechanisms of disease progression and to develop new chelators that are more effective and less toxic than those presently...

  19. [Rehabilitation methods for children with complicated cataract].

    Science.gov (United States)

    Ivanov, G; Cuşnir, V; Septichina, Natalia; Cuşnir, Vitalie

    2010-01-01

    The work deals with the results of surgical treatment of 155 patients, who had uveal cataract, by method of facoemulsification with artificial crystalline lens transplanting. The age of the sick varied from 3 to 15 as a result of a complex treatment, involving determination of ethnic factor in the development of uveal cataract, before- and after-operation conservative medical treatment, surgical treatment of abscuration ambliopia 78.1% children and the keenness of sight 0.4 and 68.7% got binocularious sight. The study lot of posttraumatic cataract affected children included 189 patients, from them 68 with stationary cataract, 87 with intumescent cataract and 34 with postoperatorial aphakia. Age from 2 to 15 years. 76.3% cases of evolution without postoperatorial complications, in 13.7% intraoperatorial were observed different complications. The work presents the results of surgical treatment 196 of children, who had innate cataract, by the method of facoasoriation with soft intra-eyepiece lens transplanting from 133 patients who had two-sided cataract, 63 had monolateral cataract. All children underwent laser simulation and videocomputer auto-training in post-operation period. As a result of the treatment, 66.8% patients got the amelioration of sight with 0.4, and 58% got binocular sight. The children's age varied between 6 months and 15 years. This article presents a review of the treatment results of 213 children with posttraumatic, congenital and complicated cataracts. The rehabilitation of the patients with the lens pathology includes a complex of measures of early diagnosis, surgery, optimal correction, medical treatment before and after surgery, the prophilaxis and treatment of complications. This approach permits to increase the visual acuity in 83.8% and to restore the binocular vision in 71.4% patients.

  20. Hereditary & familial colorectal cancer : Identification, characteristics, surveillance

    NARCIS (Netherlands)

    Kallenberg, F.G.J.

    2017-01-01

    Of all colorectal cancer (CRC) cases, 15-20% is related to familial or hereditary factors. Diagnosing familial and hereditary CRC syndromes is important for several reasons. One of these is that surveillance colonoscopies can reduce CRC incidence and mortality importantly. A complete family history

  1. Genetics Home Reference: hereditary hemorrhagic telangiectasia

    Science.gov (United States)

    ... Central OMIM: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME McDonald J, Bayrak-Toydemir P, Pyeritz RE. Hereditary hemorrhagic ... 10.1097/GIM.0b013e3182136d32. Review. Citation on PubMed McDonald J, Wooderchak-Donahue W, VanSant Webb C, Whitehead ...

  2. Sutureless Cataract Surgery: Principles and Steps

    Directory of Open Access Journals (Sweden)

    John Sandford-Smith

    2003-01-01

    Full Text Available Introduction. Cataracts cause about 50% of world blindness. There is little likelihood of effective prevention becoming available in the next few years and so the only treatment will remain surgical. For many of the other major causes of world blindness, like trachoma, xerophthalmia and onchocerciasis, the remedy is community-based, not hospital-based, and requires prevention rather than treatment. The prevalence of blinding cataract will only increase as people live longer, so cataract will continue to be, by far, the most important treatable cause of blindness.

  3. The molecular classification of hereditary endocrine diseases.

    Science.gov (United States)

    Ye, Lei; Ning, Guang

    2015-12-01

    Hereditary endocrine diseases are an important group of diseases with great heterogeneity. The current classification for hereditary endocrine disease is mostly based upon anatomy, which is helpful for pathophysiological interpretation, but does not address the pathogenic variability associated with different underlying genetic causes. Identification of an endocrinopathy-associated genetic alteration provides evidence for differential diagnosis, discovery of non-classical disease, and the potential for earlier diagnosis and targeted therapy. Molecular diagnosis should be routinely applied when managing patients with suspicion of hereditary disease. To enhance the accurate diagnosis and treatment of patients with hereditary endocrine diseases, we propose categorization of endocrine diseases into three groups based upon the function of the mutant gene: cell differentiation, hormone synthesis and action, and tumorigenesis. Each category was further grouped according to the specific gene function. We believe that this format would facilitate practice of precision medicine in the field of hereditary endocrine diseases.

  4. Cataracts

    Science.gov (United States)

    ... NEI Intranet (Employees Only) *PDF files require the free Adobe® Reader® software for viewing. This website is maintained by the NEI Office of Science Communications, Public Liaison, and Education. Technical questions about this website can be addressed ...

  5. Malignant glaucoma after cataract surgery.

    Science.gov (United States)

    Varma, Devesh K; Belovay, Graham W; Tam, Diamond Y; Ahmed, Iqbal Ike K

    2014-11-01

    To report a series of eyes that developed malignant glaucoma after cataract surgery. Private academic practice, Toronto, Ontario, Canada. Retrospective case series. Eyes that developed malignant glaucoma after cataract surgery were treated with medical therapy. This was followed by laser iridozonulohyaloidotomy, anterior chamber reformation and intraocular lens (IOL) pushback, and finally with surgical iridozonulohyaloidovitrectomy if all other measures were unsuccessful. Refraction, intraocular pressure (IOP), gonioscopy, and anterior chamber depth (ACD) by anterior segment optical coherence tomography were analyzed before treatment and after treatment. The study evaluated 20 eyes of 18 female patients aged 44 to 86 years. Preoperatively, the mean refraction was +3.11 diopters (D) ± 2.89 (SD), the mean axial length was 21.30 ± 1.40 mm, and all eyes had narrow or closed angles. Malignant glaucoma was diagnosed a mean of 5.8 ± 7.1 weeks postoperatively. At diagnosis, the mean refraction was -2.15 ± 2.95 D; the mean ACD, 2.49 ± 0.72 mm; and the mean IOP, 28.3 ± 10.8 mm Hg on a mean of 1.3 ± 1.6 medications. Two eyes responded to cycloplegia, 7 to laser iridozonulohyaloidotomy, and 6 to anterior chamber reformation-IOL pushback; 5 eyes required vitrectomy. Posttreatment, the mean refraction was -0.56 ± 1.07 D; the mean ACD, 3.30 ± 0.50 mm; and the mean IOP, 14.4 ± 4.60 mm Hg on a mean of 1.2 ± 1.4 medications. Cycloplegia was discontinued in 17 eyes. Malignant glaucoma can occur after phacoemulsification and presents with myopic surprise, anterior chamber shallowing and, possibly, elevated IOP. No author has a financial or proprietary interest in any material or method mentioned. Copyright © 2014 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  6. Dexmedetomidine premedication in cataract surgery under topical ...

    African Journals Online (AJOL)

    0.0001). Noticably, the incidence of dry mouth was higher in group D. Hemodynamic parameters were well maintained in both groups with no adverse events in either group. Conclusions: Dexmedetomidine can be used safely for cataract ...

  7. clinical characteristics of cataract patients with pseudoexfoliation

    African Journals Online (AJOL)

    User

    the clinical characteristics of pseudoexfoliation syndrome among cataract patients examined at ... CONCLUSION: A significant number of patients with PEX had poor zonular integrity and high IOP ... Poor zonular integrity may give rise to.

  8. Economic Constraints in Managing Complicated Cataracts

    African Journals Online (AJOL)

    role in the access to Healthcare Service and Resources ... Patients face financial ... environment presents unusual challenges with the management of even the simplest conditions ... in association with a cataract has been described in.

  9. Cataract Surgery in Anterior Megalophthalmos: A Review

    Science.gov (United States)

    GALVIS, Virgilio; TELLO, Alejandro; M. RANGEL, Carlos

    2015-01-01

    Anterior megalophthalmos is characterized by megalocornea associated with a very broad anterior chamber and ciliary ring elongation. It is also called X-linked megalocornea. It is accompanied by early development of cataracts, zonular anomalies, and, rarely, vitreoretinal disorders. Subluxation of a cataract can occur in cataract surgery because of zonular weakness. In addition, in most patients, standard intraocular lens (IOL) decentration is a risk because of the enlarged sulcus and capsular bag. These unique circumstances make cataract surgery challenging. To date, several approaches have been developed. Implantation of a retropupillary iris-claw aphakic intraocular lens may be a good option because it is easier than suturing the IOL and can have better and more stable anatomic and visual outcomes, compared to other techniques. PMID:27350950

  10. Fluorometholone-induced cataract after photorefractive keratectomy.

    Science.gov (United States)

    Bilgihan, K; Gürelik, G; Akata, F; Hasanreisoglu, B

    1997-01-01

    The use of topical corticosteroids following photorefractive keratectomy (PRK) is widespread. The major complications of potent corticosteroids are glaucoma and cataract formation; in order to decrease these complications, 0.1% fluorometholone administration is usually preferred after PRK. We report here a case of lens opacification which was induced by 0.1% fluorometholone administration after PRK in a period of 4 months. To our knowledge, this is the first reported case of 0.1% fluorometholone-induced cataract after PRK.

  11. Prophylactic Therapy for Hereditary Angioedema.

    Science.gov (United States)

    Longhurst, Hilary; Zinser, Emily

    2017-08-01

    Long-term prophylaxis is needed in many patients with hereditary angioedema and poses many challenges. Attenuated androgens are effective in many but are limited by side effect profiles. There is less evidence for efficacy of tranexamic acid and progestagens; however, the small side effect profile makes tranexamic acid an option for prophylaxis in children and progestagens an option for women. C1 inhibitor is beneficial, but at present requires intravenous delivery and may need dose titration for maximum efficacy. Short-term prophylaxis should be considered for all procedures. New therapies are promising in overcoming many problems encountered with current options for long-term prophylaxis. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Imaging of Hereditary Hemorrhagic Telangiectasia

    International Nuclear Information System (INIS)

    Carette, Marie-France; Nedelcu, Cosmina; Tassart, Marc; Grange, Jean-Didier; Wislez, Marie; Khalil, Antoine

    2009-01-01

    This pictorial review is based on our experience of the follow-up of 120 patients at our multidisciplinary center for hereditary hemorrhagic telangiectasia (HHT). Rendu-Osler-Weber disease or HHT is a multiorgan autosomal dominant disorder with high penetrance, characterized by epistaxis, mucocutaneous telangiectasis, and visceral arteriovenous malformations (AVMs). The research on gene mutations is fundamental and family screening by clinical examination, chest X-ray, research of pulmonary shunting, and abdominal color Doppler sonography is absolutely necessary. The angioarchitecture of pulmonary AVMs can be studied by unenhanced multidetector computed tomography; however, all other explorations of liver, digestive bowels, or brain require administration of contrast media. Magnetic resonance angiography is helpful for central nervous system screening, in particular for the spinal cord, but also for pulmonary, hepatic, and pelvic AVMs. Knowledge of the multiorgan involvement of HHT, mechanism of complications, and radiologic findings is fundamental for the correct management of these patients.

  13. Hereditary syndromes with enhanced radiosensitivity

    International Nuclear Information System (INIS)

    Lohmann, D.

    2000-01-01

    Sensitivity to ionizing radiation is modified by heritable genetic factors. This is exemplified by heritable disorders that are characterized by predisposition to the development of neoplasms. Cells derived from patients with ataxia telangiectasia, Nijmegen breakage syndrome and ataxia telangiektasia-like disorder show a markedly changed reaction to exposure to ionizing radiation. Correspondingly, at least in patients with ataxia telangiectasia, an enhanced radiosensitivity that is of clinical importance has been observed. In addition to these recessive disorders, some autosomal dominant cancer predisposition syndromes are associated with increased radiosensitivity. As cells from these patients still have a normal allele (that is dominant over the mutant allele), the cellular phenotype is most often normal. Specifically, there is no overtly altered reaction in response to ionizing radiation. Nevertheless, two dominant cancer predisposition syndromes, namely hereditary retinoblastoma and naevoid basal cell carcinoma syndrome, are associated with a enhanced radiosensitivity as indicated by increased development of tumors following radiation therapy. (orig.) [de

  14. Cataract incidence after total-body irradiation

    International Nuclear Information System (INIS)

    Zierhut, D.; Lohr, F.; Schraube, P.; Huber, P.; Haas, R.; Hunstein, W.; Wannenmacher, M.

    1997-01-01

    Purpose: Aim of this retrospective study was to evaluate cataract incidence in a homogeneous group of patients after total-body irradiation followed by autologous bone marrow transplantation or peripheral blood stem cell transplantation. Method and Materials: Between 11/1982 and 6/1994 in total 260 patients received in our hospital total-body irradiation for treatment of haematological malignancy. In 1996-96 patients out of these 260 patients were still alive. 85 from these still living patients (52 men, 33 women) answered evaluable on a questionnaire and could be examined ophthalmologically. Median age of these patients was 38,5 years (15 - 59 years) at time of total-body irradiation. Radiotherapy was applied as hyperfractionated total-body irradiation with a median dose of 14,4 Gy in 12 fractions over 4 days. Minimum time between fractions was 4 hours, photons with a energy of 23 MeV were used, and the dose rate was 7 - 18 cGy/min. Results: Median follow-up is now 5,8 years (1,7 - 13 years). Cataract occurred in (28(85)) patients after a median time of 47 months (1 - 104 months). In 6 out of these 28 patients who developed a cataract, surgery of the cataract was performed. Whole-brain irradiation prior to total-body irradiation was more often in the group of patients developing a cataract (14,3%) vs. 10,7% in the group of patients without cataract. Conclusion: Cataract is a common side effect of total-body irradiation. Cataract incidence found in our patients is comparable to results of other centres using a fractionated regimen for total-body irradiation. The hyperfractionated regimen used in our hospital does obviously not result in a even lower cataract incidence. In contrast to acute and late toxicity in other organ/organsystems, hyperfractionation of total-body irradiation does not further reduce toxicity for the eye-lens. Dose rate may have more influence on cataract incidence

  15. Unilateral Congenital Cataract: Clinical Profile and Presentation.

    Science.gov (United States)

    Khokhar, Sudarshan; Jose, Cijin P; Sihota, Ramanjit; Midha, Neha

    2018-03-01

    To study the clinical profile and presentation of children with unilateral cataract. In this hospital-based, observational, cross-sectional study, patients 15 years of age or younger who presented with unilateral cataract were recruited. Cases of cataract secondary to causes such as trauma or uveitis were excluded. Age at detection and presentation, distance from the treatment center, presenting complaints, cataract morphology, and biometry were noted for each case. A total of 76 patients were recruited. Most patients presented with complaints of leukocoria. Persistent fetal vasculature accounted for 27.6% of cases and was the most common identifiable cause of cataract in this study. Subsequently, patients were divided into two groups: no persistent fetal vasculature (control) and persistent fetal vasculature. A male predominance was noted in both groups. The mean age at detection was 27.58 ± 37.02 and 6.17 ± 8.42 months and the mean age at presentation was 55.613 ± 45.21 and 14.83 ± 17.75 months in the control and persistent fetal vasculature groups, respectively. In the persistent fetal vasculature group, a significant difference was noted in the axial length, keratometry, and corneal diameter between the affected and normal eyes (P = .027, .00176, and .0114, respectively). In the control group, this difference was observed only in keratometry readings (P = .0464). The mean distance traveled by patients to reach the treatment center was 211 km. Persistent fetal vasculature is an important and less identified cause of unilateral cataract. A significant delay is noted in the detection and presentation of unilateral cataract. [J Pediatr Ophthalmol Strabismus. 2018;55(2):107-112.]. Copyright 2017, SLACK Incorporated.

  16. The carbon footprint of cataract surgery.

    Science.gov (United States)

    Morris, D S; Wright, T; Somner, J E A; Connor, A

    2013-04-01

    Climate change is predicted to be one of the largest global health threats of the 21st century. Health care itself is a large contributor to carbon emissions. Determining the carbon footprint of specific health care activities such as cataract surgery allows the assessment of associated emissions and identifies opportunities for reduction. To assess the carbon footprint of a cataract pathway in a British teaching hospital. This was a component analysis study for one patient having first eye cataract surgery in the University Hospital of Wales, Cardiff. Activity data was collected from three sectors, building and energy use, travel and procurement. Published emissions factors were applied to this data to provide figures in carbon dioxide equivalents (CO2eq). The carbon footprint for one cataract operation was 181.8 kg CO2eq. On the basis that 2230 patients were treated for cataracts during 2011 in Cardiff, this has an associated carbon footprint of 405.4 tonnes CO2eq. Building and energy use was estimated to account for 36.1% of overall emissions, travel 10.1% and procurement 53.8%, with medical equipment accounting for the most emissions at 32.6%. This is the first published carbon footprint of cataract surgery and acts as a benchmark for other studies as well as identifying areas for emissions reduction. Within the procurement sector, dialogue with industry is important to reduce the overall carbon footprint. Sustainability should be considered when cataract pathways are designed as there is potential for reduction in all sectors with the possible side effects of saving costs and improving patient care.

  17. Genetics 101 --The Hereditary Material of Life

    Science.gov (United States)

    ... of this page please turn Javascript on. Feature: Genetics 101 Genetics 101 — The Hereditary Material of Life Past Issues / Summer 2013 Table of Contents Genetics is the study of heredity, the process in ...

  18. Hereditary History Preserving Bisimilarity Is Undecidable

    DEFF Research Database (Denmark)

    Jurdzinski, Marcin; Nielsen, Mogens

    2000-01-01

    History preserving bisimilarity (hp-bisimilarity) and hereditary history preserving bisimilarity (hhp-bisimilarity) are behavioural equivalences taking into account causal relationships between events of concurrent systems. Their prominent feature is being preserved under action refinement...

  19. Genetics Home Reference: hereditary hypophosphatemic rickets

    Science.gov (United States)

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... families, hereditary hypophosphatemic rickets has had an autosomal dominant inheritance pattern, which means one copy of an ...

  20. Clinical features of Hereditary Haemorrhagic Telangiectasia

    NARCIS (Netherlands)

    Hosman, A.E.

    2017-01-01

    Hereditary Haemorrhagic Telangiectasia (HHT), also known as Rendu-Osler-Weber disease (ROW), is an autosomal dominant disease with multi-systemic vascular dysplasia characterized by mucocutaneous telangiectasia, arteriovenous malformations and recurrent spontaneous epistaxis (nosebleeds). Most cases

  1. Splenic Involvement in Hereditary Hemorrhagic Telangiectasia

    Directory of Open Access Journals (Sweden)

    Susumu Takamatsu

    2016-01-01

    Full Text Available A 33-year-old man who presented with prolonged epigastric pain was referred to our hospital. He had experienced recurrent epistaxis and had a family history of hereditary hemorrhagic telangiectasia. Computed tomography and magnetic resonance imaging revealed splenomegaly and a 9 cm hypervascular mass in his spleen. Computed tomography also showed a pulmonary arteriovenous malformation and heterogeneous enhancement of the liver parenchyma, suggesting the presence of arteriosystemic shunts and telangiectases. Based on these findings, the patient was definitely diagnosed with hereditary hemorrhagic telangiectasia according to Curaçao criteria. He underwent splenectomy, and his symptoms disappeared after surgery. Pathological examination of the resected specimen revealed that the hypervascular lesion of the spleen was not a tumor but was composed of abnormal vessels associated with hereditary hemorrhagic telangiectasia. Symptomatic splenic involvement may be a rare manifestation of hereditary hemorrhagic telangiectasia but can be revealed by imaging modalities.

  2. Application of ultrasound biomicro-scopy in the planning of cataract surgery in anterior megalophthalmos

    Directory of Open Access Journals (Sweden)

    Mohammad Ali Zare

    2011-01-01

    Full Text Available Anterior megalophthalmos, a rare hereditary disorder, is macrocornea (horizontal corneal diameter more than 13 mm in association with enlarged lens-iris diaphragm and ciliary ring. One of the major challenging issues in the cataract surgery of these patients is preventing intraocular lens (IOL malposition, because of probable large capsular bag. Several approaches have been selected by previous surgeons, such as, custom-made anterior chamber IOLs. In this study, we show a normal capsular bag diameter despite ciliary ring enlargement, with application of ultrasound biomicroscopy (UMB. We suggest that in cases of anterior megalophthalmos without phacodonesis, UBM could measure the actual size of the capsular bag and obviate the need for further procedures.

  3. A Review of Hereditary Fructose Intolerance

    Directory of Open Access Journals (Sweden)

    Mogoş Tiberius

    2016-03-01

    Full Text Available Fructose intolerance is a metabolic disorder with hereditary determinism, clinically manifested on terms of fructose intake. Untreated, hereditary fructose intolerance may result in renal and hepatic failure. Unfortunately, there are no formal diagnostic and surveillance guidelines for this disease. If identified and treated before the occurrence of permanent organ damage, patients can improve their symptoms and self-rated health. Implementation and adherence to a strict fructose free diet is often difficult, but not impossible.

  4. Evaluation of the Community Cataract Surgical Services of a ...

    African Journals Online (AJOL)

    Evaluation of the Community Cataract Surgical Services of a University Teaching Hospital Using Cataract Surgical Coverage in Nigeria. ... Ethiopian Journal of Health Sciences. Journal Home · ABOUT THIS JOURNAL · Advanced Search ...

  5. Trainee ophthalmologists' opinions on ways to improve cataract ...

    African Journals Online (AJOL)

    2010-02-08

    Feb 8, 2010 ... D'autres incluent local production de la cataracte consommables 22 (81.5%), franchise importation d'ophtalmique ... potential decision makers and implementers of eye ... in rural areas; social welfare package making cataract.

  6. Uptake of cataract surgery in Sava Region, Madagascar: role of cataract case finders in acceptance of cataract surgery.

    Science.gov (United States)

    Razafinimpanana, Narivony; Nkumbe, Henry; Courtright, Paul; Lewallen, Susan

    2012-04-01

    The number of people coming for cataract surgery in Madagascar remains low and most ophthalmologists could do many more surgeries than currently done. Knowing why people identified with cataract do not accept surgery will help to design programs that use existing resources more effectively. The study was carried out in Sava Region of Madagascar. People with blinding (acceptance were proximity to hospital (people from Sambava district were twice as likely to present as people from more distant districts) and perceived price of transport and food (being higher for people not accepting). The actual price of surgery was not the main barrier to acceptance of surgery; instead it appears that distance to the hospital and the willingness to pay are important predictors. Strategies to improve uptake need to be revised in order to ensure that people have access to and use cataract surgical services.

  7. Relationship between cataract severity and socioeconomic status.

    Science.gov (United States)

    Wesolosky, Jason D; Rudnisky, Christopher J

    2013-12-01

    To determine the relationship between cataract severity and socioeconomic status (SES). Retrospective, observational case series. A total of 1350 eyes underwent phacoemulsification cataract extraction by a single surgeon using an Alcon Infiniti system. Cataract severity was measured using phaco time in seconds. SES was measured using area-level aggregate census data: median income, education, proportion of common-law couples, and employment rate. Preoperative best corrected visual acuity was obtained and converted to logarithm of the minimum angle of resolution values. For patients undergoing bilateral surgery, the generalized estimating equation was used to account for the correlation between eyes. Univariate analyses were performed using simple regression, and multivariate analyses were performed to account for variables with significant relationships (p < 0.05) on univariate testing. Sensitivity analyses were performed to assess the effect of including patient age in the controlled analyses. Multivariate analyses demonstrated that cataracts were more severe when the median income was lower (p = 0.001) and the proportion of common-law couples living in a patient's community (p = 0.012) and the unemployment rate (p = 0.002) were higher. These associations persisted even when controlling for patient age. Patients of lower SES have more severe cataracts. Copyright © 2013 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved.

  8. Hereditary sensory neuropathy type I

    Directory of Open Access Journals (Sweden)

    Auer-Grumbach Michaela

    2008-03-01

    Full Text Available Abstract Hereditary sensory neuropathy type I (HSN I is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. The exact prevalence is unknown, but is estimated as very low. Disease onset varies between the 2nd and 5th decade of life. The main clinical feature of HSN I is the reduction of sensation sense mainly distributed to the distal parts of the upper and lower limbs. Variable distal muscle weakness and wasting, and chronic skin ulcers are characteristic. Autonomic features (usually sweating disturbances are invariably observed. Serious and common complications are spontaneous fractures, osteomyelitis and necrosis, as well as neuropathic arthropathy which may even necessitate amputations. Some patients suffer from severe pain attacks. Hypacusis or deafness, or cough and gastrooesophageal reflux have been observed in rare cases. HSN I is a genetically heterogenous condition with three loci and mutations in two genes (SPTLC1 and RAB7 identified so far. Diagnosis is based on the clinical observation and is supported by a family history. Nerve conduction studies confirm a sensory and motor neuropathy predominantly affecting the lower limbs. Radiological studies, including magnetic resonance imaging, are useful when bone infections or necrosis are suspected. Definitive diagnosis is based on the detection of mutations by direct sequencing of the SPTLC1 and RAB7 genes. Correct clinical assessment and genetic confirmation of the diagnosis are important for appropriate genetic counselling and prognosis. Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN, especially HSAN II, as well as diabetic foot syndrome, alcoholic neuropathy, neuropathies caused by other neurotoxins/drugs, immune mediated neuropathy, amyloidosis, spinal cord diseases, tabes dorsalis, lepra

  9. Hereditary sensory neuropathy type I.

    Science.gov (United States)

    Auer-Grumbach, Michaela

    2008-03-18

    Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. The exact prevalence is unknown, but is estimated as very low. Disease onset varies between the 2nd and 5th decade of life. The main clinical feature of HSN I is the reduction of sensation sense mainly distributed to the distal parts of the upper and lower limbs. Variable distal muscle weakness and wasting, and chronic skin ulcers are characteristic. Autonomic features (usually sweating disturbances) are invariably observed. Serious and common complications are spontaneous fractures, osteomyelitis and necrosis, as well as neuropathic arthropathy which may even necessitate amputations. Some patients suffer from severe pain attacks. Hypacusis or deafness, or cough and gastrooesophageal reflux have been observed in rare cases. HSN I is a genetically heterogenous condition with three loci and mutations in two genes (SPTLC1 and RAB7) identified so far. Diagnosis is based on the clinical observation and is supported by a family history. Nerve conduction studies confirm a sensory and motor neuropathy predominantly affecting the lower limbs. Radiological studies, including magnetic resonance imaging, are useful when bone infections or necrosis are suspected. Definitive diagnosis is based on the detection of mutations by direct sequencing of the SPTLC1 and RAB7 genes. Correct clinical assessment and genetic confirmation of the diagnosis are important for appropriate genetic counselling and prognosis. Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN), especially HSAN II, as well as diabetic foot syndrome, alcoholic neuropathy, neuropathies caused by other neurotoxins/drugs, immune mediated neuropathy, amyloidosis, spinal cord diseases, tabes dorsalis, lepra neuropathy, or decaying skin

  10. Simultaneous versus Sequential Bilateral Cataract Surgery for Infants with Congenital Cataracts: Visual Outcomes and Economic Costs

    Science.gov (United States)

    Dave, Hreem; Phoenix, Vidya; Becker, Edmund R.; Lambert, Scott R.

    2015-01-01

    OBJECTIVES To compare the incidence of adverse events, visual outcomes and economic costs of sequential versus simultaneous bilateral cataract surgery for infants with congenital cataracts. METHODS We retrospectively reviewed the incidence of adverse events, visual outcomes and medical payments associated with simultaneous versus sequential bilateral cataract surgery for infants with congenital cataracts who underwent cataract surgery when 6 months of age or younger at our institution. RESULTS Records were available for 10 children who underwent sequential surgery at a mean age of 49 days for the first eye and 17 children who underwent simultaneous surgery at a mean age of 68 days (p=.25). We found a similar incidence of adverse events between the two treatment groups. Intraoperative or postoperative complications occurred in 14 eyes. The most common postoperative complication was glaucoma. No eyes developed endophthalmitis. The mean absolute interocular difference in logMAR visual acuities between the two treatment groups was 0.47±0.76 for the sequential group and 0.44±0.40 for the simultaneous group (p=.92). Hospital, drugs, supplies and professional payments were on average 21.9% lower per patient in the simultaneous group. CONCLUSIONS Simultaneous bilateral cataract surgery for infants with congenital cataracts was associated with a 21.9% reduction in medical payments and no discernible difference in the incidence of adverse events or visual outcome. PMID:20697007

  11. Acid phosphatase and lipid peroxidation in human cataractous lens epithelium

    Directory of Open Access Journals (Sweden)

    Vasavada Abhay

    1993-01-01

    Full Text Available The anterior lens epithelial cells undergo a variety of degenerative and proliferative changes during cataract formation. Acid phosphatase is primarily responsible for tissue regeneration and tissue repair. The lipid hydroperoxides that are obtained by lipid peroxidation of polysaturated or unsaturated fatty acids bring about deterioration of biological membranes at cellular and tissue levels. Acid phosphatase and lipid peroxidation activities were studied on the lens epithelial cells of nuclear cataract, posterior subcapsular cataract, mature cataract, and mixed cataract. Of these, mature cataractous lens epithelium showed maximum activity for acid phosphatase (516.83 moles of p-nitrophenol released/g lens epithelium and maximum levels of lipid peroxidation (86.29 O.D./min/g lens epithelium. In contrast, mixed cataractous lens epithelium showed minimum activity of acid phosphatase (222.61 moles of p-nitrophenol released/g lens epithelium and minimum levels of lipid peroxidation (54.23 O.D./min/g lens epithelium. From our study, we correlated the maximum activity of acid phosphatase in mature cataractous lens epithelium with the increased areas of superimposed cells associated with the formation of mature cataract. Likewise, the maximum levels of lipid peroxidation in mature cataractous lens epithelium was correlated with increased permeability of the plasma membrane. Conversely, the minimum levels of lipid peroxidation in mixed cataractous lens epithelium makes us presume that factors other than lipid peroxidation may also account for the formation of mixed type of cataract.

  12. Monitoring Cataract Surgical Outcome in a Public Hospital in Orlu ...

    African Journals Online (AJOL)

    Objective: To determine the proportion and causes of poor visual outcome of cataract operations done in a public hospital in southeast Nigeria and propose actions to improve the cataract surgical outcome. Method: A prospective observational analysis of the initial hundred cases of cataract operations done in Imo State ...

  13. Cataract Surgical Outreach in a Tertiary Hospital in Nigeria: An ...

    African Journals Online (AJOL)

    Odarosa M Uhumwangho

    the University of Benin Teaching Hospital (UBTH), Benin City. ... There is a great need to improve access to eye care services in general and cataract surgical ... world.[1] In Nigeria, 42.9% of blindness is caused by cataract. [2] A large number of the cataract blind have not had surgery ..... Change the definition of blindness.

  14. The technical hereditary of CWD

    International Nuclear Information System (INIS)

    Smulders, P.T.

    1990-01-01

    An overview is given of the activities of the Dutch foundation CWD since 1975. The financing of the foundation stopped July 1st 1990. From 1975 the CWD stimulated the use of small scale wind energy to pump up water in developing countries. The hereditary of the CWD consists of knowledge of the design and performance of components of wind mills, knowledge to design integral systems based on these components and preconditions, and knowledge how to manufacture, install and maintain the wind mills locally. The CWD designed three wind mill pumps of which 250 have been brought into operation in developing countries. A CWD-type pump was developed in Sri-Lanka of which 150 pumps were installed. Also attention is paid to the external situation which effected the CWD activities: the lack of interest from the Dutch industry to cooperate in developing CWD pumps; the actual market far away in developing countries; and too little competition in the research and development. The nature of the CWD-participants caused some internal friction which did not contribute to the effectivity of the CWD organisation. It is recommended to continue the development and testing of small wind energy systems and to preserve the knowledge gained by the CWD. 3 figs., 2 tabs., 3 refs

  15. Movement disorders in hereditary ataxias.

    Science.gov (United States)

    Garcia Ruiz, Pedro J; Mayo, David; Hernandez, Jaime; Cantarero, Susana; Ayuso, Carmen

    2002-10-15

    Movement disorders are well known features of some dominant hereditary ataxias (HA), specially SCA3/Machado-Joseph disease and dentatorubropallidolusyan atrophy. However, little is known about the existence and classification of movement disorders in other dominant and recessive ataxias. We prospectively studied the presence of movement disorders in patients referred for HA over the last 3 years. Only those patients with a confirmed family history of ataxia were included. We studied 84 cases of HA, including 46 cases of recessive and 38 cases of dominant HA. Thirty out of 46 cases of recessive HA could be classified as: Friedreich ataxia (FA), 29 cases; vitamin E deficiency, 1 case. Twenty-three out of 38 cases of dominant HA could be classified as: SCA 2, 4 cases; SCA 3, 8 cases; SCA 6, 4 cases; SCA 7, 6 cases and SCA 8, 1 case. We observed movement disorders in 20/38 (52%) patients with dominant HA and 25/46 (54%) cases with recessive HA, including 16 patients (16/29) with FA. In general, postural tremor was the most frequent observed movement disorder (27 cases), followed by dystonia (22 cases). Five patients had akinetic rigid syndrome, and in 13 cases, several movement disorders coexisted. Movement disorders are frequent findings in HA, not only in dominant HA but also in recessive HA. Copyright 2002 Elsevier Science B.V.

  16. Cataracts induced by microwave and ionizing radiation

    International Nuclear Information System (INIS)

    Lipman, R.M.; Tripathi, B.J.; Tripathi, R.C.

    1988-01-01

    Microwaves most commonly cause anterior and/or posterior subcapsular lenticular opacities in experimental animals and, as shown in epidemiologic studies and case reports, in human subjects. The formation of cataracts seems to be related directly to the power of the microwave and the duration of exposure. The mechanism of cataractogenesis includes deformation of heat-labile enzymes, such as glutathione peroxide, that ordinarily protect lens cell proteins and membrane lipids from oxidative damage. Oxidation of protein sulfhydryl groups and the formation of high-molecular-weight aggregates cause local variations in the orderly structure of the lens cells. An alternative mechanism is thermoelastic expansion through which pressure waves in the aqueous humor cause direct physical damage to the lens cells. Cataracts induced by ionizing radiation (e.g., X-rays and gamma rays) usually are observed in the posterior region of the lens, often in the form of a posterior subcapsular cataract. Increasing the dose of ionizing radiation causes increasing opacification of the lens, which appears after a decreasing latency period. Like cataract formation by microwaves, cataractogenesis induced by ionizing radiation is associated with damage to the lens cell membrane. Another possible mechanism is damage to lens cell DNA, with decreases in the production of protective enzymes and in sulfur-sulfur bond formation, and with altered protein concentrations. Until further definitive conclusions about the mechanisms of microwaves and ionizing radiation induced cataracts are reached, and alternative protective measures are found, one can only recommend mechanical shielding from these radiations to minimize the possibility of development of radiation-induced cataracts. 74 references

  17. Inadvertent filtering bleb following sutureless cataract surgery

    Directory of Open Access Journals (Sweden)

    Jain Sunil

    2005-01-01

    Full Text Available The case history of a sixty-two-year-old lady, who presented with a bleb in the upper part of her left eye following cataract surgery was studied. The patient had no prior history of any glaucoma surgery. Gonioscopy revealed fishmouthing of the internal aspect of the scleral tunnel incision. The diagnosis of post-cataract filtering bleb was made which was managed by resuturing the wound. This case highlights the use of gonioscopy to visualise and evaluate the internal wound and discusses intraoperative recognition of internal leak and its management with horizontal sutures.

  18. Cataract surgical rate in Yemen: 2012

    Directory of Open Access Journals (Sweden)

    Saleh A. Al-Akily

    2017-01-01

    Conclusion: CSR has increased in Yemen in the recent years but is still below the target suggested by WHO. There is need to increase the cataract surgical rate in Yemen mainly in rural areas. Inadequate number of eye surgeons, limited accessibility of cataract surgical services in rural areas and the affordability of surgery to large sections of society are major constraints that have to be addressed. The information from this study will help and enable Ministry of Health and other eye care providers to more equitably disperse trained ophthalmic personnel and eye units in Yemeni governorates.

  19. A novel HSF4 gene mutation (p.R405X causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

    Directory of Open Access Journals (Sweden)

    Cheema Abdul

    2008-11-01

    Full Text Available Abstract Background Hereditary cataracts are most frequently inherited as autosomal dominant traits, but can also be inherited in an autosomal recessive or X-linked fashion. To date, 12 loci for autosomal recessive cataracts have been mapped including a locus on chromosome 16q22 containing the disease-causing gene HSF4 (Genbank accession number NM_001040667. Here, we describe a family from Pakistan with the first nonsense mutation in HSF4 thus expanding the mutational spectrum of this heat shock transcription factor gene. Methods A large consanguineous Pakistani family with autosomal recessive cataracts was collected from Quetta. Genetic linkage analysis was performed for the common known autosomal recessive cataracts loci and linkage to a locus containing HSF4 (OMIM 602438 was found. All exons and adjacent splice sites of the heat shock transcription factor 4 gene (HSF4 were sequenced. A mutation-specific restriction enzyme digest (HphI was performed for all family members and unrelated controls. Results The disease phenotype perfectly co-segregated with markers flanking the known cataract gene HSF4, whereas other autosomal recessive loci were excluded. A maximum two-point LOD score with a Zmax = 5.6 at θ = 0 was obtained for D16S421. Direct sequencing of HSF4 revealed the nucleotide exchange c.1213C > T in this family predicting an arginine to stop codon exchange (p.R405X. Conclusion We identified the first nonsense mutation (p.R405X in exon 11 of HSF4 in a large consanguineous Pakistani family with autosomal recessive cataract.

  20. Inheritance of congenital cataracts and microphthalmia in the Miniature Schnauzer.

    Science.gov (United States)

    Gelatt, K N; Samuelson, D A; Bauer, J E; Das, N D; Wolf, E D; Barrie, K P; Andresen, T L

    1983-06-01

    Congenital cataracts and microphthalmia in the Miniature Schnauzer were inherited as an autosomal recessive trait. Eighteen matings of affected X affected Miniature Schnauzers resulted in 87 offspring with congenital cataracts and microphthalmia (49 males/38 females). Two matings of congenital cataractous and microphthalmic Miniature Schnauzers (2 females) X a normal Miniature Schnauzer (1 male) yielded 11 clinically normal Miniature Schnauzers (7 males/4 females). Eighteen matings of congenital cataractous and microphthalmic Miniature Schnauzers (6 males) X carrier Miniature Schnauzers (9 females) produced 81 offspring; 39 exhibited congenital cataracts and microphthalmia (20 males/19 females) and 42 had clinically normal eyes (17 males/25 females).

  1. Cost-effectiveness analysis of cataract surgery with intraocular lens implantation: extracapsular cataract extraction versus phacoemulsification

    Directory of Open Access Journals (Sweden)

    Mohd R.A. Manaf

    2007-03-01

    Full Text Available A randomized single blinded clinical trial to compare the cost-effectiveness of cataract surgery between extracapsular cataract extraction (ECCE and phacoemulsification (PEA was conducted at Hospital Universiti Kebangsaan Malaysia (HUKM from March 2000 until August 2001. The cost of a cataract surgery incurred by hospital, patients and households were calculated preoperatively, one week, two months (for both techniques and six months (for ECCE only. Effectiveness of cataract surgery was assessed using Visual Function 14 (VF-14, quality of life measurement specifically for vision. The cost analysis results from each 50 subjects of ECCE and PEA group showed that average cost for one ECCE after six months post-operation is USD 458 (± USD 72 and for PEA is USD 528 (± USD 125. VF-14 score showed a significant increased after a week, two months and six months post-operation compared to the score before operation for both techniques (p<0.001. However, there was no significant difference between them (p = 0.225. This study indicated that ECCE is more cost effective compared to PEA with cost per one unit increment of VF-14 score of USD 14 compared to USD 20 for PEA. (Med J Indones 2007; 16:25-31 Keywords: cataract, cost-effectiveness, extracapsular cataract extraction, phacoemulsification, visual function 14

  2. Cataract-free interval and severity of cataract after total body irradiation and bone marrow transplantation: influence of treatment parameters

    International Nuclear Information System (INIS)

    Kempen-Harteveld, M. Loes van; Struikmans, Henk; Kal, Henk B.; Tweel, Ingeborg van der; Mourits, Maarten; Verdonck, Leo F.; Schipper, Jan; Battermann, Jan J.

    2000-01-01

    Purpose: To determine prospectively the cataract-free interval (latency time) after total body irradiation (TBI) and bone marrow transplantation (BMT) and to assess accurately the final severity of the cataract. Methods and Materials: Ninety-three of the patients who received TBI as a part of their conditioning regimen for BMT between 1982 and 1995 were followed with respect to cataract formation. Included were only patients who had a follow-up period of at least 23 months. TBI was applied in one fraction of 8 Gy or two fractions of 5 or 6 Gy. Cataract-free period was assessed and in 56 patients, who could be followed until stabilization of the cataract had occurred, final severity of the cataract was determined using a classification system. With respect to final severity, two groups were analyzed: subclinical low-grade cataract and high-grade cataract. Cataract-free period and final severity were determined with respect to type of transplantation, TBI dose, and posttransplant variables such as graft versus host disease (GVHD) and steroid treatment. Results: Cataract incidence of the analyzed patients was 89%. Median time to develop a cataract was 58 months for autologous transplanted patients. For allogeneic transplanted patients treated or not treated with steroids, median times were 33 and 46 months, respectively. Final severity was not significantly different for autologous or allogeneic patients. In allogeneic patients, however, final severity was significantly different for patients who had or had not been treated with steroids for GVHD: 93% versus 35% high-grade cataract, respectively. Final severity was also different for patients receiving 1 x 8 or 2 x 5 Gy TBI, from patients receiving 2 x 6 Gy as conditioning therapy: 33% versus 79% high-grade cataract, respectively. The group of patients receiving 2 x 6 Gy comprised, however, more patients with steroid treatment for GVHD. So the high percentage of high-grade cataract in the 2 x 6 Gy group might also

  3. Simulation-based certification for cataract surgery

    DEFF Research Database (Denmark)

    Thomsen, Ann Sofia Skou; Kiilgaard, Jens Folke; Kjaerbo, Hadi

    2015-01-01

    PURPOSE: To evaluate the EyeSi(™) simulator in regard to assessing competence in cataract surgery. The primary objective was to explore all simulator metrics to establish a proficiency-based test with solid evidence. The secondary objective was to evaluate whether the skill assessment was specific...

  4. Genetics Home Reference: hereditary sensory neuropathy type IA

    Science.gov (United States)

    ... sensory neuropathy type IA Hereditary sensory neuropathy type IA Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description Hereditary sensory neuropathy type IA is a condition characterized by nerve abnormalities in ...

  5. Genetics Home Reference: hereditary leiomyomatosis and renal cell cancer

    Science.gov (United States)

    ... Home Health Conditions HLRCC Hereditary leiomyomatosis and renal cell cancer Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description Hereditary leiomyomatosis and renal cell cancer ( HLRCC ) is a disorder in which affected individuals ...

  6. Cataract surgery practices in the United States Veterans Health Administration.

    Science.gov (United States)

    Havnaer, Annika G; Greenberg, Paul B; Cockerham, Glenn C; Clark, Melissa A; Chomsky, Amy

    2017-04-01

    To describe current cataract surgery practices within the United States Veterans Health Administration (VHA). Veterans Health Administration hospitals in the U.S. Retrospective data analysis. An initial e-mail containing a link to an anonymous 32-question survey of cataract surgery practices was sent to participants in May 2016. Two reminder e-mails were sent to nonresponders 1 week and 2 weeks after the initial survey was sent; the remaining nonresponders were called twice over a 2-week period. The data were analyzed using descriptive statistics. The response rate was 75% (67/89). Cataract surgeons routinely ordered preoperative testing in 29 (45%) of 65 sections and preoperative consultations in 26 (39%) of 66 sections. In 22 (33%) of 66 sections, cataract surgeons administered intracameral antibiotics. In 61 (92%) of 66 sections, cataract surgeons used toric intraocular lenses (IOLs). In 20 (30%) of 66 sections, cataract surgeons used multifocal IOLs. Cataract surgeons in 6 (9%) of 66 sections performed femtosecond laser-assisted cataract surgery. In 6 (9%) of 66 sections, cataract surgeons performed immediate sequential bilateral cataract surgery. Forty-nine (74%) ophthalmology chiefs reported a high level of satisfaction with Veterans Affairs ophthalmology. The survey results indicate that in cataract surgery in the VHA, routine preoperative testing is commonly performed and emerging practices, such as femtosecond laser-assisted cataract surgery and immediate sequential bilateral cataract surgery, have limited roles. The results of this survey could benchmark future trends in U.S. cataract surgery practices, especially in teaching hospital settings. Copyright © 2017 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  7. [Paediatric retinal detachment and hereditary vitreoretinal disorders].

    Science.gov (United States)

    Meier, P

    2013-09-01

    The number of retinal detachments in children is very low in comparison to the number in adults. One predisposing factor for development of paediatric retinal detachment is suffering from hereditary vitreoretinal degeneration (e.g., Stickler syndrome, Wagner syndrome, Kniest dysplasia, familial exudative vitreoretinopathy, congenital X-linked retinoschisis, Knobloch syndrome, incontinentia pigmenti, Norrie disease). Hereditary vitreoretinopathies are characterised by an abnormal-appearing vitreous gel with associated retinal changes. In most of these eyes further ocular abnormalities can be diagnosed. A group of hereditary disorders is associated with characteristic systemic abnormalities. Allied conditions should be considered in the clinical diagnosis. Vitreoretinopathies are the most common cause of inherited retinal detachment. In most eyes primary vitrectomy is necessary, and disease-specific surgical treatment is discussed. Georg Thieme Verlag KG Stuttgart · New York.

  8. Pancreatic cancer risk in hereditary pancreatitis

    Directory of Open Access Journals (Sweden)

    Frank Ulrich Weiss

    2014-02-01

    Full Text Available Inflammation is part of the body’s immune response in order to remove harmful stimuli – like pathogens, irritants or damaged cells - and start the healing process. Recurrent or chronic inflammation on the other side seems a predisposing factor for carcinogenesis and has been found associated with cancer development. In chronic pancreatitis mutations of the cationic trypsinogen (PRSS1 gene have been identified as risk factors of the disease. Hereditary pancreatitis is a rare cause of chronic pancreatic inflammation with an early onset, mostly during childhood. Hereditary pancreatitis often starts with recurrent episodes of acute pancreatitis and the clinical phenotype is not very much different from other etiologies of the disease. The long-lasting inflammation however generates a tumor promoting environment and represents a major risk factor for tumor development This review will reflect our knowledge concerning the specific risk of hereditary pancreatitis patients to develop pancreatic cancer.

  9. Cataract surgery in patients with ocular pseudoexpholiation.

    Science.gov (United States)

    Petrovic, Mirjana Janicijevic; Vulovic, Tatjana Sarenac; Vulovic, Dejan; Janicijevic, Katarina; Petrovic, Marko; Vujic, Dragan

    2013-01-01

    Retrospective 5-year study based on general and ophthalmic history records, and including 268 eyes (174 patients), aged 50 years and over. Ophthalmological examination involved visual acuity, measuring of intraocular pressure, slit lamp examination and indirect ophthalmoscopy. Type of surgical treatment was tailored for each patient (extra capsular cataract extraction, phaco-emulsiphication). Preoperative slit lamp examination showed phacodonesis in 17.91% (47), iridodonesis in 2.98% (8), pigment dispersion in 6.72% (18), lens subluxation in 4.85% (13) on the total. Extra capsular cataract extraction was performed in 36.94% (99) and phaco-emulsiphication in the others. Analysis of intra operative complications showed: posterior capsular rupture 17.91% (48), zonular dialysis or break 5.97% (16), lens subluxation 1.86% (5), intraocular bleeding 2.98% (8), vitreous loss 13.80% (37). Postoperative complications include: anterior chamber reaction 45.90% (123), intraocular lens tilt 15.67% (42), endothelial decompensation 21.64% (58), subluxation/luxation IOL 3.73% (10), secondary cataract 21.46% (58), pigment dispersion 37.68% (101), increased IOP 13.80% (37), residual lens matter 13.80% (37), hyphema 3.73% (10), posterior synechiae 6.72% (18), iris prolapsus 2.73% (8). Cataract surgery in PES will frequently encounter small pupils, shallow anterior chambers, posterior adhesions, weak zonular support, partial subluxation or complete dislocation of lens. Authors presented the best possible approach on PES and surgical methods for patients with cataract with special accent of possible surgical complications.

  10. Therapeutic Strategies for Hereditary Kidney Cancer.

    Science.gov (United States)

    Sidana, Abhinav; Srinivasan, Ramaprasad

    2016-08-01

    The study of hereditary forms of kidney cancer has vastly increased our understanding of metabolic and genetic pathways involved in the development of both inherited and sporadic kidney cancers. The recognition that diverse molecular events drive different forms of kidney cancers has led to the preclinical and clinical development of specific pathway-directed strategies tailored to treat distinct subgroups of kidney cancer. Here, we describe the molecular mechanisms underlying the pathogenesis of several different types of hereditary renal cancers, review their clinical characteristics, and summarize the treatment strategies for the management of these cancers.

  11. Diagnosis and management of hereditary hemochromatosis.

    Science.gov (United States)

    Salgia, Reena J; Brown, Kimberly

    2015-02-01

    Hereditary hemochromatosis is a rare genetic disorder that can have significant clinical consequences. Hemochromatosis is associated with iron overload, and can initially be recognized through laboratory testing for serum ferritin and transferrin saturation. Genetic testing for the HFE mutation can be performed in patients with elevated iron indices and a suspicion for hemochromatosis or liver disease. The main pathway resulting in iron overload is through altered hepcidin levels. Treatment of patients with the clinical phenotype of hereditary hemochromatosis is commonly through phlebotomy for removal of excess iron stores. This article highlights the current information and data regarding the diagnosis and management of hemochromatosis. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Cx43, ZO-1, alpha-catenin and beta-catenin in cataractous lens

    Indian Academy of Sciences (India)

    Specimens of the anterior lens capsule with an attached monolayer of lens epithelial cells (LECs) were obtained from patients (=52) undergoing cataract surgery. Specimens were divided into three groups based on the type of cataract: nuclear cataract, cortical cataract and posterior subcapsular cataract (PSC).

  13. [Incremental cost effectiveness of multifocal cataract surgery].

    Science.gov (United States)

    Pagel, N; Dick, H B; Krummenauer, F

    2007-02-01

    Supplementation of cataract patients with multifocal intraocular lenses involves an additional financial investment when compared to the corresponding monofocal supplementation, which usually is not funded by German health care insurers. In the context of recent resource allocation discussions, however, the cost effectiveness of multifocal cataract surgery could become an important rationale. Therefore an evidence-based estimation of its cost effectiveness was carried out. Three independent meta-analyses were implemented to estimate the gain in uncorrected near visual acuity and best corrected visual acuity (vision lines) as well as the predictability (fraction of patients without need for reading aids) of multifocal supplementation. Study reports published between 1995 and 2004 (English or German language) were screened for appropriate key words. Meta effects in visual gain and predictability were estimated by means and standard deviations of the reported effect measures. Cost data were estimated by German DRG rates and individual lens costs; the cost effectiveness of multifocal cataract surgery was then computed in terms of its marginal cost effectiveness ratio (MCER) for each clinical benefit endpoint; the incremental costs of multifocal versus monofocal cataract surgery were further estimated by means of their respective incremental cost effectiveness ratio (ICER). An independent meta-analysis estimated the complication profiles to be expected after monofocal and multifocal cataract surgery in order to evaluate expectable complication-associated additional costs of both procedures; the marginal and incremental cost effectiveness estimates were adjusted accordingly. A sensitivity analysis comprised cost variations of +/- 10 % and utility variations alongside the meta effect estimate's 95 % confidence intervals. Total direct costs from the health care insurer's perspective were estimated 3363 euro, associated with a visual meta benefit in best corrected visual

  14. Idiopathic Thrombocytopenic Purpura Misdiagnosed as Hereditary Angioedema

    DEFF Research Database (Denmark)

    Andersen, Michelle Fog; Bygum, Anette

    2015-01-01

    however not always have to be caused by angioedema but can relate to other concomitant disorders. In this report we are focusing on misdiagnosis in a patient with known hereditary angioedema, whose bleeding episode caused by idiopathic thrombocytopenic purpura was mistaken for an acute attack...

  15. Hereditary spherocytosis: Consequences of delayed diagnosis

    Directory of Open Access Journals (Sweden)

    Sarah C Steward

    2014-08-01

    Full Text Available Objective: To determine whether patients with undiagnosed hereditary spherocytosis hospitalized for transfusions might have avoided hospitalization via earlier diagnosis. Study design: Charts of all (N = 30 patients with hereditary spherocytosis seen in pediatric hematology at West Virginia University-Charleston were reviewed. Family and transfusion history and presence of neonatal jaundice were recorded. Complete blood count and reticulocyte values during infancy were available for 20 of 30 patients, while baseline steady-state values were available for all 30. Results: Transfusions were given to 22 patients; 12 of 14 with an aplastic crisis were undiagnosed. In 10 of 12, the severity of anemia led to hospitalization (3 to intensive care. All 10 had prior mean corpuscular hemoglobin concentration and/or red cell distribution width elevations and a history of neonatal jaundice; 7 of 10 had a positive family history. Conclusions: Undiagnosed hereditary spherocytosis may lead to inpatient transfusions for severe anemia. Earlier detection of hereditary spherocytosis is easily achievable and may reduce hospitalizations via closer monitoring.

  16. Major and minor form of hereditary hyperekplexia

    NARCIS (Netherlands)

    Tijssen, MAJ; Vergouwe, MN; van Dijk, JG; Rees, M; Frants, RR; Brown, P

    Hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. Within the disorder two clinical forms can be distinguished. The major form is characterized by continuous generalized stiffness in the first year of life and an exaggerated startle reflex, accompanied

  17. MRI in Leber's hereditary optic neuropathy

    DEFF Research Database (Denmark)

    Matthews, Lucy; Enzinger, Christian; Fazekas, Franz

    2015-01-01

    BACKGROUND: Leber's hereditary optic neuropathy (LHON) and a multiple sclerosis (MS)-like illness appear to coexist 50 times more frequently than would be expected by chance. This association of LHON and MS (LMS) raises an important question about whether there could be a common pathophysiological...

  18. Autosomal dominant hereditary ataxia in Sri Lanka

    OpenAIRE

    Sumathipala, Dulika S; Abeysekera, Gayan S; Jayasekara, Rohan W; Tallaksen, Chantal ME; Dissanayake, Vajira HW

    2013-01-01

    Background Spinocerebellar ataxias (SCA) are a group of hereditary neurodegenerative disorders. Prevalence of SCA subtypes differ worldwide. Autosomal dominant ataxias are the commonest types of inherited ataxias seen in Sri Lanka. The aim of the study is to determine the genetic etiology of patients with autosomal dominant ataxia in Sri Lanka and to describe the clinical features of each genetic subtype. Methods ...

  19. Hereditary hemochromatosis: An opportunity for gene therapy

    Directory of Open Access Journals (Sweden)

    FERNANDO EZQUER

    2006-01-01

    Full Text Available Levels of body iron should be tightly controlled to prevent the formation of oxygen radicals, lipoperoxidation, genotoxicity, and the production of cytotoxic cytokines, which result in damage to a number of organs. Enterocytes in the intestinal villae are involved in the apical uptake of iron from the intestinal lumen; iron is further exported from the cells into the circulation. The apical divalent metal transporter-1 (DMT1 transports ferrous iron from the lumen into the cells, while the basolateral transporter ferroportin extrudes iron from the enterocytes into the circulation. Patients with hereditary hemochromatosis display an accelerated transepithelial uptake of iron, which leads to body iron accumulation that results in cirrhosis, hepatocellular carcinoma, pancreatitis, and cardiomyopathy. Hereditary hemochromatosis, a recessive genetic condition, is the most prevalent genetic disease in Caucasians, with a prevalence of one in 300 subjects. The majority of patients with hereditary hemochromatosis display mutations in the gene coding for HFE, a protein that normally acts as an inhibitor of transepithelial iron transport. We discuss the different control points in the homeostasis of iron and the different mutations that exist in patients with hereditary hemochromatosis. These control sites may be influenced by gene therapeutic approaches; one general therapy for hemochromatosis of different etiologies is the inhibition of DMT1 synthesis by antisense-generating genes, which has been shown to markedly inhibit apical iron uptake by intestinal epithelial cells. We further discuss the most promising strategies to develop gene vectors and deliver them into enterocytes

  20. Epidemiology of Non-hereditary Angioedema

    DEFF Research Database (Denmark)

    Madsen, Flemming; Attermann, Jorn; Linneberg, Allan

    2012-01-01

    The prevalence of non-hereditary angioedema was investigated in a general population sample (n = 7,931) and in a sample of Danish patients (n = 7,433) tested for deficiency of functional complement C1 esterase inhibitor protein (functional C1 INH). The general population sample (44% response rate...

  1. Epidemiology of Non-hereditary Angioedema

    DEFF Research Database (Denmark)

    Madsen, Flemming; Attermann, Jørn; Linneberg, Allan

    2012-01-01

    The prevalence of non-hereditary angioedema was investigated in a general population sample (n¿=¿7,931) and in a sample of Danish patients (n¿=¿7,433) tested for deficiency of functional complement C1 esterase inhibitor protein (functional C1 INH). The general population sample (44% response rate...

  2. Revisited diagnostics of hereditary epidermolysis bullosa

    Directory of Open Access Journals (Sweden)

    V. I. Albanova

    2014-01-01

    Full Text Available Hereditary epidermolysis bullosa is a big group of hereditary diseases with the main manifestations in the form of blisters on the skin and mucous coat after slight mechanical injuries. It is not always possible to diagnose this disease based on the clinical picture. The article discusses current laboratory diagnostics methods for hereditary epidermolysis bullosa including immunofluorescence antigen mapping (IFM, transmission electron microscopy (TEM and genetic analysis (molecular or DNA diagnostics as well as their advantages and disadvantages. TEM determines the micro splitting level and nature of ultrafine changes in the area of the dermoepidermal junction; at the same time, such tests need special expensive equipment. Substantial experience is also needed to analyze the resulting submicroscopic images. IFM determines whether expression of the affected protein related to the disease development is reduced or absent; however, invalid (false positive or false negative results can be obtained in patients with the reduced expression of the affected protein. Genetic analysis plays a key role for prenatal diagnostics. Therefore, to make an exact diagnosis of hereditary epidermolysis bullosa, it is expedient to apply IFM, TEM and genetic analysis. The need to set an exact diagnosis of the disease is related to the fact that the promising treatment methods being currently developed are aimed at treating patients with certain forms of the disease.

  3. Hereditary hemorrhagic telangiectasia clinical and molecular genetics

    NARCIS (Netherlands)

    Letteboer, T.G.W.

    2010-01-01

    Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber (ROW) syndrome is an autosomal dominant disease characterized by vascular malformations in multiple organ systems. HHT has an age-related penetrance and variable clinical expression. The clinical symptoms are caused by direct

  4. Influence factors of visual quality after phacoemulsification for cataract

    Directory of Open Access Journals (Sweden)

    Zhen-Lin Lin

    2017-12-01

    Full Text Available Cataract refers to the degenerative changes in lens quality caused by various causes of reduced transparency or color change. Surgical treatment is the main treatment modality at present. Among them, phacoemulsification has become the main surgical treatment for cataract because of its advantages such as short operation time, small incision and quicker healing. Today, cataract surgery has gradually shift to refractive surgery, and is no longer simply as cataract surgery. But after cataract phacoemulsification, the symptoms and visual quality are different. The main causes include refractive error, postoperative dry eyes and postoperative corneal astigmatism. This article reviews the factors that influence the visual quality of cataract phacoemulsification and its future trends.

  5. Risk of Retinal Detachment After Pediatric Cataract Surgery

    DEFF Research Database (Denmark)

    Haargaard, Birgitte; Andersen, Elisabeth W; Oudin, Anna

    2014-01-01

    PURPOSE: To determine the long-term risk of retinal detachment following pediatric cataract surgery and to identify risk factors for retinal detachment. METHODS: We included all children (aged 0 to 17 years) who during the time period of 1977 to 2005 underwent pediatric cataract surgery in Denmark...... was based on medical chart review. RESULTS: Among 1043 eyes of 656 children undergoing surgery for pediatric cataract, 25 eyes (23 children) developed retinal detachment at a median time of 9.1 years after surgery. The overall 20-year risk of retinal detachment was 7% (95% confidence interval [CI]: 3...... (16% [95% CI: 6%-24%]). CONCLUSIONS: The estimated overall risk of retinal detachment 20 years after pediatric cataract surgery was 7%, but only 3% for isolated cataract. Particularly high risks of retinal detachment after cataract surgery were associated with mental retardation and having other...

  6. The Effect of Cataract Surgery on Circadian Photoentrainment

    DEFF Research Database (Denmark)

    Brøndsted, Adam Elias; Sander, Birgit; Haargaard, Birgitte

    2015-01-01

    of cataract surgery on circadian photoentrainment and to determine any difference between blue-blocking and neutral intraocular lenses (IOLs). DESIGN: The study was a single-center, investigator-driven, double-masked, block-randomized clinical trial. PARTICIPANTS: One eye in 76 patients with bilateral age......PURPOSE: Cataract decreases blue light transmission. Because of the selective blue light sensitivity of the retinal ganglion cells governing circadian photoentrainment, cataract may interfere with normal sleep-wake regulation and cause sleep disturbances. The purpose was to investigate the effect......-related cataract eligible for cataract surgery was included. METHODS: Intervention was cataract surgery by phacoemulsification. Patients were randomized to receive a blue-blocking or neutral IOL. MAIN OUTCOME MEASURES: Primary outcome was activation of intrinsic photosensitive ganglion cells using post...

  7. Surgical simulators in cataract surgery training.

    Science.gov (United States)

    Sikder, Shameema; Tuwairqi, Khaled; Al-Kahtani, Eman; Myers, William G; Banerjee, Pat

    2014-02-01

    Virtual simulators have been widely implemented in medical and surgical training, including ophthalmology. The increasing number of published articles in this field mandates a review of the available results to assess current technology and explore future opportunities. A PubMed search was conducted and a total of 10 articles were reviewed. Virtual simulators have shown construct validity in many modules, successfully differentiating user experience levels during simulated phacoemulsification surgery. Simulators have also shown improvements in wet-lab performance. The implementation of simulators in the residency training has been associated with a decrease in cataract surgery complication rates. Virtual reality simulators are an effective tool in measuring performance and differentiating trainee skill level. Additionally, they may be useful in improving surgical skill and patient outcomes in cataract surgery. Future opportunities rely on taking advantage of technical improvements in simulators for education and research.

  8. Eliminating the barriers to uptake of cataract surgery in a resource ...

    African Journals Online (AJOL)

    2014-11-03

    Nov 3, 2014 ... Direct surgical fee reduction alone caused only a modest increase in ... for reversing cataract blindness. ... of surgical fee reduction on cataract surgical uptake in a .... deploy the necessary resources and logistics for cataract.

  9. Cataract and its surgery in Fiji.

    Science.gov (United States)

    Brian, Garry; Ramke, Jacqueline; Szetu, John; Qoqonokana, Mundi Qalo

    2011-07-01

    To characterize cataract and its surgery among adults aged ≥40 years in Fiji. Population-based cross-sectional survey using multistage cluster random sampling. 1381 (= 73.0% participation); eight provinces on Viti Levu. Interview-based questionnaire; visual acuity measured; autorefraction; dilated ocular examination. Prevalence; predictors; surgical outcomes. Being Indian (P = 0.001), elderly (P Fiji population aged ≥40 years, prevalence of cataract-induced low vision and blindness were each 1.7% (95% confidence interval [CI] 1.0-2.4%). At least one eye of 4.6% and both of 1.8% participants had surgery (86.4% extracapsular). Gender (P = 0.213), age (P = 0.472) and rural/urban domicile (P = 0.895) were not predictors of surgery among those who required it in at least one eye. After intraocular lens surgery: 50.7% had pupillary posterior capsular opacification; mean spherical equivalent was -1.37 ± 1.95D (range, -6.38 to +2.25D); mean cylindrical error was 2.31 ± 1.75D (range, 0.0 to 8.75D); ≥N8 for 39.5%; ≥6/18 for 56.6%; Fiji population aged ≥40 years, Cataract Surgical Coverage (Person) was 47.5% (95%CI 29.2-65.8%) at Fiji cataract services and outcomes compare favourably with those of neighbouring Papua New Guinea and Timor Leste. © 2011 The Authors. Clinical and Experimental Ophthalmology © 2011 Royal Australian and New Zealand College of Ophthalmologists.

  10. Queen Victoria, her physicians, and her cataracts.

    Science.gov (United States)

    Ravin, J G

    1994-01-01

    Decreasing vision due to cataracts became a significant problem for Queen Victoria toward the end of the 19th century. Her personal physician, Sir James Reid, obtained consultations with two eminent British ophthalmologists, George Lawson and Edward Nettleship. The Queen was not satisfied, and requested an opinion from the German professor Hermann Pagenstecher. All the doctors agreed on the diagnosis, but the Queen never underwent surgery.

  11. Cataract influence on iris recognition performance

    Science.gov (United States)

    Trokielewicz, Mateusz; Czajka, Adam; Maciejewicz, Piotr

    2014-11-01

    This paper presents the experimental study revealing weaker performance of the automatic iris recognition methods for cataract-affected eyes when compared to healthy eyes. There is little research on the topic, mostly incorporating scarce databases that are often deficient in images representing more than one illness. We built our own database, acquiring 1288 eye images of 37 patients of the Medical University of Warsaw. Those images represent several common ocular diseases, such as cataract, along with less ordinary conditions, such as iris pattern alterations derived from illness or eye trauma. Images were captured in near-infrared light (used in biometrics) and for selected cases also in visible light (used in ophthalmological diagnosis). Since cataract is a disorder that is most populated by samples in the database, in this paper we focus solely on this illness. To assess the extent of the performance deterioration we use three iris recognition methodologies (commercial and academic solutions) to calculate genuine match scores for healthy eyes and those influenced by cataract. Results show a significant degradation in iris recognition reliability manifesting by worsening the genuine scores in all three matchers used in this study (12% of genuine score increase for an academic matcher, up to 175% of genuine score increase obtained for an example commercial matcher). This increase in genuine scores affected the final false non-match rate in two matchers. To our best knowledge this is the only study of such kind that employs more than one iris matcher, and analyzes the iris image segmentation as a potential source of decreased reliability

  12. Blindness and cataract surgical services in Atsinanana region, Madagascar.

    Science.gov (United States)

    Randrianaivo, Jean-Baptiste; Anholt, R Michele; Tendrisoa, Diarimirindra Lazaharivony; Margiano, Nestor Jean; Courtright, Paul; Lewallen, Susan

    2014-01-01

    To assess the prevalence and causes of avoidable blindness in Atsinanana Region, Madagascar, with the Rapid Assessment of Avoidable Blindness (RAAB) survey. We analyzed the hospital records to supplement the findings for public health care planning. Only villages within a two-hour walk from a road, about half of the population of Atsinanana was included. Seventy-two villages were selected by population-proportional-to-size sampling. In each village, compact segment sampling was used to select 50 people over age 50 for eye examination using standard RAAB methods. Records at the two hospitals providing cataract surgery in the region were analyzed for information on patients who underwent cataract surgery in 2010. Cataract incidence rate and target cataract surgery rate (CSR) was modeled from age-specific prevalence of cataract. The participation rate was 87% and the sample prevalence of blindness was 1.96%. Cataract was responsible for 64% and 85.7% of blindness and severe visual impairment, respectively. Visual impairment was due to cataract (69.4%) and refractive error (14.1%). There was a strong positive correlation between cataract surgical rate by district and the proportion of people living within 2 hours of a road. There were marked differences in the profiles of the cataract patients at the two facilities. The estimated incidence of cataract at the 6/18 level was 2.4 eyes per 100 people over age 50 per year. Although the survey included only people with reasonable access, the main cause of visual impairment was still cataract. The incidence of cataract is such that it ought to be possible to eliminate it as a cause of visual impairment, but changes in service delivery at hospitals and strategies to improve access will be necessary for this change.

  13. Editorial: Improving cataract outcomes through good postoperative care

    Directory of Open Access Journals (Sweden)

    Nick Astbury

    2016-10-01

    Full Text Available Cataract surgery is one of the most successful and frequently performed operations worldwide, and yet cataract remains the commonest cause of global blindness. This is in part due to the shortage and uneven distribution of trained personnel in some countries. More worryingly, a high rate of cataract blindness also reflects poor visual outcomes after surgery, as has been documented in many RAAB (rapid assessment of avoidable blindness studies.

  14. Affordability of cataract surgery using the Big Mac prices

    OpenAIRE

    Van C. Lansingh; Marissa J. Carter; Kristen A. Eckert; Kevin L. Winthrop; João M. Furtado; Serge Resnikoff

    2015-01-01

    Purpose: One barrier to cataract surgery is its high price in some countries. This study aims to understand to what extent the price of cataract surgery is over- or undervalued and whether it varies in relation to GDP using The Economist newspaper Big Mac Index (BMcI) methodology, which measures the purchasing power parity between different currencies. Methods: Peer-reviewed articles containing information on cataract surgery prices were searched from 1993 to June 2012 in databases. Ophtha...

  15. Elevated frequency of cataracts in birds from chernobyl.

    Directory of Open Access Journals (Sweden)

    Timothy Alexander Mousseau

    Full Text Available BACKGROUND: Radiation cataracts develop as a consequence of the effects of ionizing radiation on the development of the lens of the eye with an opaque lens reducing or eliminating the ability to see. Therefore, we would expect cataracts to be associated with reduced fitness in free-living animals. METHODOLOGY/PRINCIPAL FINDINGS: We investigated the incidence of lens opacities typical of cataracts in more than 1100 free-living birds in the Chernobyl region in relation to background radiation. The incidence of cataracts increased with level of background radiation both in analyses based on a dichotomous score and in analyses of continuous scores of intensity of cataracts. The odds ratio per unit change in the regressor was 0.722 (95% CI 0.648, 0.804, which was less than odds ratios from investigations of radiation cataracts in humans. The relatively small odds ratio may be due to increased mortality in birds with cataracts. We found a stronger negative relationship between bird abundance and background radiation when the frequency of cataracts was higher, but also a direct effect of radiation on abundance, suggesting that radiation indirectly affects abundance negatively through an increase in the frequency of cataracts in bird populations, but also through direct effects of radiation on other diseases, food abundance and interactions with other species. There was no increase in incidence of cataracts with increasing age, suggesting that yearlings and older individuals were similarly affected as is typical of radiation cataract. CONCLUSIONS/SIGNIFICANCE: These findings suggest that cataracts are an under-estimated cause of morbidity in free-living birds and, by inference, other vertebrates in areas contaminated with radioactive materials.

  16. Elevated Frequency of Cataracts in Birds from Chernobyl

    Science.gov (United States)

    Mousseau, Timothy Alexander; Møller, Anders Pape

    2013-01-01

    Background Radiation cataracts develop as a consequence of the effects of ionizing radiation on the development of the lens of the eye with an opaque lens reducing or eliminating the ability to see. Therefore, we would expect cataracts to be associated with reduced fitness in free-living animals. Methodology/Principal Findings We investigated the incidence of lens opacities typical of cataracts in more than 1100 free-living birds in the Chernobyl region in relation to background radiation. The incidence of cataracts increased with level of background radiation both in analyses based on a dichotomous score and in analyses of continuous scores of intensity of cataracts. The odds ratio per unit change in the regressor was 0.722 (95% CI 0.648, 0.804), which was less than odds ratios from investigations of radiation cataracts in humans. The relatively small odds ratio may be due to increased mortality in birds with cataracts. We found a stronger negative relationship between bird abundance and background radiation when the frequency of cataracts was higher, but also a direct effect of radiation on abundance, suggesting that radiation indirectly affects abundance negatively through an increase in the frequency of cataracts in bird populations, but also through direct effects of radiation on other diseases, food abundance and interactions with other species. There was no increase in incidence of cataracts with increasing age, suggesting that yearlings and older individuals were similarly affected as is typical of radiation cataract. Conclusions/Significance These findings suggest that cataracts are an under-estimated cause of morbidity in free-living birds and, by inference, other vertebrates in areas contaminated with radioactive materials. PMID:23935827

  17. Serum 25-hydroxyvitamin D and Age-Related Cataract.

    Science.gov (United States)

    Park, Sangshin; Choi, Nam-Kyong

    2017-10-01

    Cataract and insufficient vitamin D intake are both increasing worldwide concerns, yet little is known about the relationship between serum 25-hydroxyvitamin D (25(OH)D) levels and age-related cataract. We performed this study to determine the association between serum 25(OH)D levels and age-related cataract in adults. Study participants comprised 16,086 adults aged 40 years or older who had never been diagnosed with or undergone surgery for cataract using Korean National Health and Nutrition Examination Survey data from 2008 to 2012. Participants were assessed to have cataract when diagnosed with cortical, nuclear, anterior subcapsular, posterior subcapsular, or mixed cataract. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the magnitude and significance of the association between serum 25(OH)D levels and cataract in multivariable logistic regression models. The OR for nuclear cataract with the highest quintile of serum 25(OH)D levels was 0.86 (95% CI 0.75-0.99) compared to the lowest quintile. A linear trend across quintiles was significant. Natural log-transformed serum 25(OH)D levels were also significantly associated with nuclear cataract (OR 0.84, 95% CI 0.75-0.95). The opulation-attributable fraction of nuclear cataract due to serum 25(OH)D insufficiency (D levels were inversely associated with the risk of nuclear cataract. Prospective studies investigating the effects of serum 25(OH)D levels on the development of nuclear cataract are needed to confirm our findings.

  18. Combined surgery versus cataract surgery alone for eyes with cataract and glaucoma.

    Science.gov (United States)

    Zhang, Mingjuan Lisa; Hirunyachote, Phenpan; Jampel, Henry

    2015-07-14

    Cataract and glaucoma are leading causes of blindness worldwide, and their co-existence is common in elderly people. Glaucoma surgery can accelerate cataract progression, and performing both surgeries may increase the rate of postoperative complications and compromise the success of either surgery. However, cataract surgery may independently lower intraocular pressure (IOP), which may allow for greater IOP control among patients with co-existing cataract and glaucoma. The decision between undergoing combined glaucoma and cataract surgery versus cataract surgery alone is complex. Therefore, it is important to compare the effectiveness of these two interventions to aid clinicians and patients in choosing the better treatment approach. To assess the relative effectiveness and safety of combined surgery versus cataract surgery (phacoemulsification) alone for co-existing cataract and glaucoma. The secondary objectives include cost analyses for different surgical techniques for co-existing cataract and glaucoma. We searched CENTRAL (which contains the Cochrane Eyes and Vision Group Trials Register) (2014, Issue 10), Ovid MEDLINE, Ovid MEDLINE In-Process and Other Non-Indexed Citations, Ovid MEDLINE Daily, Ovid OLDMEDLINE (January 1946 to October 2014), EMBASE (January 1980 to October 2014), PubMed (January 1948 to October 2014), Latin American and Caribbean Health Sciences Literature Database (LILACS) (January 1982 to October 2014), the metaRegister of Controlled Trials (mRCT) (www.controlled-trials.com), ClinicalTrials.gov (www.clinicaltrials.gov), and the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP) (www.who.int/ictrp/search/en). We did not use any date or language restrictions in the electronic searches for trials. We last searched the electronic databases on 3 October 2014.We checked the reference lists of the included trials to identify further relevant trials. We used the Science Citation Index to search for references to

  19. [Computer-assisted phacoemulsification for hard cataracts].

    Science.gov (United States)

    Zemba, M; Papadatu, Adriana-Camelia; Sîrbu, Laura-Nicoleta; Avram, Corina

    2012-01-01

    to evaluate the efficiency of new torsional phacoemulsification software (Ozil IP system) in hard nucleus cataract extraction. 45 eyes with hard senile cataract (degree III and IV) underwent phacoemulsification performed by the same surgeon, using the same technique (stop and chop). Infiniti (Alcon) platform was used, with Ozil IP software and Kelman phaco tip miniflared, 45 degrees. The nucleus was split into two and after that the first half was phacoemulsificated with IP-on (group 1) and the second half with IP-off (group 2). For every group we measured: cumulative dissipated energy (CDE), numbers of tip closure that needed manual desobstruction the amount of BSS used. The mean CDE was the same in group 1 and in group 2 (between 6.2 and 14.9). The incidence of occlusion that needed manual desobstruction was lower in group 1 (5 times) than in group 2 (13 times). Group 2 used more BSS compared to group 1. The new torsional software (IP system) significantly decreased occlusion time and balanced salt solution use over standard torsional software, particularly with denser cataracts.

  20. Methylphenidate (Ritalin-associated Cataract and Glaucoma

    Directory of Open Access Journals (Sweden)

    Chao-Kung Lu

    2006-12-01

    Full Text Available Methylphenidate hydrochloride (Ritalin is the drug of choice for attention deficit hyperactivity disorder (ADHD. However, an association of Ritalin with glaucoma has been reported. We report a case of Ritalin-associated cataract and glaucoma. A 10-year-old boy was diagnosed with ADHD and had received methylphenidate hydrochloride, 60 mg/day for 2 years. He presented with blurred vision. Best-corrected visual acuity was 6/60 in both eyes. Ocular examinations revealed intraocular pressure (IOP of 30 mmHg under medication, dense posterior subcapsular opacity of lens, pale disc with advanced cupping, and marked constriction of visual field. Despite maximal anti-glaucomatous medication, IOP still could not be controlled. The patient then received combined cataract and glaucoma surgery. Visual acuity improved and IOP was within normal limits in both eyes postoperatively. Large dose of methylphenidate may cause cataract and glaucoma. The mechanism remains unclear. Doctors should be aware of the possible ocular side effects of methylphenidate.

  1. Principles and paradigms of pediatric cataract management

    Directory of Open Access Journals (Sweden)

    Basti Surendra

    1995-01-01

    Full Text Available Propensity for increased postoperative inflammation and capsular opacification, a refractive state that is constantly in a state of flux due to growth of the eye, difficulty in documenting anatomic and refractive changes due to poor compliance, and a tendency to develop amblyopia, makes management of cataract in the child different from that in the adult. The recent past has unraveled several caveats of pediatric cataract management - the importance of atraumatic surgery and complete removal of lens matter, benefits of in-the-bag intraocular lens(IOL implantation, role of titrating IOL power to counter refractive changes due to growth of the eye, prudery of continuously following these eyes for early detection of aphakic glaucoma and benefits of some surgical innovations. Although these promise to significantly improve our management of pediatric cataract, their long-term benefits are yet to be determined. We will also have to harness newer techniques, especially in the areas of wound construction and capsule management, and will have to develop effective strategies for the refractive management of infantile aphakia.

  2. Measuring aniseikonia using scattering filters to simulate cataract

    Science.gov (United States)

    Wilson, Jason

    2011-12-01

    The relationship between anisometropia and aniseikonia (ANK) is not well understood. Ametropic cataract patients provide a unique opportunity to study this relationship after undergoing emmetropizing lens extraction. Because light scatter may affect ANK measurement in cataract patients, its effect should also be evaluated. The Basic Aniseikonia Test (BAT) was evaluated using afocal size lenses to produce specific changes in retinal height. Several light scattering devices were then evaluated to determine which produced effects most similar to cataract. Contrast sensitivity and visual acuity (VA) losses were measured with each device and compared to those reported in cataract. After determining the most appropriate light scattering device, twenty healthy patients with normal visual function were recruited to perform the BAT using the filters to simulate cataract. Cataract patients were recruited from Vision America and the University of Alabama at Birmingham School of Optometry. Patients between 20 and 75 years of age with at least 20/80 VA in each eye, ≥ 2D ametropia, and normal binocular function were recruited. Stereopsis and ANK were tested and each patient completed a symptom questionnaire. ANK measurements using afocal size lenses indicated that the BAT underestimates ANK, although the effect was minimal for vertical targets and darkened surroundings, as previously reported. Based on VA and contrast sensitivity loss, Vistech scattering filters produced changes most similar to cataract. Results of the BAT using Vistech filters demonstrated that a moderate cataract but not a mild cataract may affect the ANK measurement. ANK measurements on cataract patients indicated that those with ≥ 2 D ametropia in each eye may suffer from induced ANK after the first cataract extraction. With upcoming healthcare reform, unilateral cataract extraction may be covered, but not necessarily bilateral, depending on patient VA in each eye. However, a questionnaire about symptoms

  3. The Relationship of age, attitude, knowladge, cost to cataract surgery

    Directory of Open Access Journals (Sweden)

    Aminatul Fitria

    2017-02-01

    Full Text Available Cataract is the leading cause of 51% blindness case in the world. Cataract can only be cured trough surgery, but most people with cataract in Indonesia is not in undergoing surgery due to several factors. The increasing number of cataract victim whose not undergoing any treatment to cure them will resulting in increasing number of blindness case, so blindness cause by cataracts can be a public health problem. This research was conducted to determine the relationship of age, attitudes, knowledge and the cost of the action to perform cataract surgery. This research was an observational analytic study with cross sectional design. The samples were cataract patients in Undaan Eye Hospital Surabaya who were randomly selected using a simple random sampling based on medical records of 60 people. Data collection was done by taking secondary data and interviews to patients. Those variables was analyzed with chi square or Fisher’s exact with significancy level at 95%. The result showed that there were correlation between knowledge (p = 0.017, operating costs (p = 0.001 and attitude (0.000 while age was not related (p = 1.000, the actions to perform cataract surgery. The conclusion from this research was the attitude, knowledge and operating costs related to the actions to perform cataract surgery, while age was not related to the actions to perform cataract surgery. It is recommended to give through leaflets or other media in the lobby for improving patient education, counseling to the patient family, the doctor’s advice to convince patient for surgery. Keywords: practice, surgery, cataract, attitudes, costs

  4. A CLINICAL STUDY AND MANAGEMENT OF PAEDIATRIC CATARACT, OUR EXPERIENCE

    Directory of Open Access Journals (Sweden)

    Satish D. Shet

    2017-09-01

    Full Text Available BACKGROUND Control of childhood blindness is one of the priorities identified for achieving the goals of Vision-2020 by WHO. This is considered a priority because blind-years (number of years that a blind person lives after going blind due to childhood blindness are second only to cataract and half of childhood blindness is avoidable (treatable/preventable. Paediatric cataract accounts for 12% of the 1.4 million blind children globally. The prevalence of childhood cataract has been reported as 1 to 15 cases in 10,000 children in developing countries. Compared to industrialised countries, this figure is 10 times higher. Early detection and timely treatment of various childhood disorders such as congenital cataract are the most crucial factors for successful outcome. A suitable measure to address amblyopia and posterior capsule opacification post operatively is imperative for successful visual rehabilitation of such children. The objectives of this study were- 1 To study the clinical profile of paediatric cataract. 2 To evaluate the visual outcome after cataract surgery in these patients. 3 To evaluate different causes of visual impairment following management. MATERIALS AND METHODS A prospective study conducted at Karnataka institute of medical sciences department of ophthalmology from October 2015 to September 2016. All children below 14 years of age presenting with cataract will undergo thorough ophthalmologic examination and cataract surgery. RESULTS The results of the present study with 25 paediatric patients (36 eyes indicates that excellent vision can be expected after cataract surgery and posterior chamber IOL implantation coupled with appropriate amblyopia therapy. CONCLUSION The paediatric cataract patients are referred from primary health centers, and district hospital from north Karnataka to KIMS Hubli. All paediatric patients are from lower socio economic status. Early detection of cataracts and referrals to the ophthalmologist can

  5. Hereditary noetherian prime rings and idealizers

    CERN Document Server

    Levy, Lawrence S

    2011-01-01

    The direct sum behaviour of its projective modules is a fundamental property of any ring. Hereditary Noetherian prime rings are perhaps the only noncommutative Noetherian rings for which this direct sum behaviour (for both finitely and infinitely generated projective modules) is well-understood, yet highly nontrivial. This book surveys material previously available only in the research literature. It provides a re-worked and simplified account, with improved clarity, fresh insights and many original results about finite length modules, injective modules and projective modules. It culminates in the authors' surprisingly complete structure theorem for projective modules which involves two independent additive invariants: genus and Steinitz class. Several applications demonstrate its utility. The theory, extending the well-known module theory of commutative Dedekind domains and of hereditary orders, develops via a detailed study of simple modules. This relies upon the substantial account of idealizer subrings wh...

  6. Hereditary spastic paraplegia with cerebellar ataxia

    DEFF Research Database (Denmark)

    Nielsen, J E; Johnsen, B; Koefoed, P

    2004-01-01

    Complex forms of hereditary spastic paraplegia (HSP) are rare and usually transmitted in an autosomal recessive pattern. A family of four generations with autosomal dominant hereditary spastic paraplegia (AD-HSP) and a complex phenotype with variably expressed co-existing ataxia, dysarthria......, unipolar depression, epilepsy, migraine, and cognitive impairment was investigated. Genetic linkage analysis and sequencing of the SPG4 gene was performed and electrophysiologic investigations were carried out in six individuals and positron emission tomography (PET) in one patient. The disease was linked...... in those individuals who were clinically affected by a complex phenotype consisting of HSP and cerebellar ataxia. Other features noted in this kindred including epilepsy, cognitive impairment, depression, and migraine did not segregate with the HSP phenotype or mutation, and therefore the significance...

  7. Hereditary Transthyretin Amyloidosis in Eight Chinese Families

    Directory of Open Access Journals (Sweden)

    Ling-Chao Meng

    2015-01-01

    Full Text Available Background: Mutations of transthyretin (TTR cause the most common type of autosomal-dominant hereditary systemic amyloidosis, which occurs worldwide. To date, more and more mutations in the TTR gene have been reported. Some variations in the clinical presentation are often observed in patients with the same mutation or the patients in the same family. The purpose of this study was to find out the clinicopathologic and genetic features of Chinese patients with hereditary TTR amyloidosis. Methods: Clinical and necessary examination materials were collected from nine patients of eight families with hereditary TTR amyloidosis at Peking University First Hospital from January 2007 to November 2014. Sural nerve biopsies were taken for eight patients and skin biopsies were taken in the calf/upper arm for two patients, for light and electron microscopy examination. The TTR genes from the nine patients were analyzed. Results: The onset age varied from 23 to 68 years. The main manifestations were paresthesia, proximal and/or distal weakness, autonomic dysfunction, cardiomyopathy, vitreous opacity, hearing loss, and glossohypertrophia. Nerve biopsy demonstrated severe loss of myelinated fibers in seven cases and amyloid deposits in three. One patient had skin amyloid deposits which were revealed from electron microscopic examination. Genetic analysis showed six kinds of mutations of TTR gene, including Val30Met, Phe33Leu, Ala36Pro, Val30Ala, Phe33Val, and Glu42Gly in exon 2. Conclusions: Since the pathological examinations of sural nerve were negative for amyloid deposition in most patients, the screening for TTR mutations should be performed in all the adult patients, who are clinically suspected with hereditary TTR amyloidosis.

  8. Multiple Hereditary Osteochondromatosis: A Case Report

    OpenAIRE

    K???kesmen, ?i?dem; ?zen, Bu?ra; Ak?am, Mustafa

    2007-01-01

    Objectives Common carious lesions owing to vomiting are not widespread in children. In this case, we aimed to report an 11-years-old male patient with common carious lesions due to repeated vomitings, chewing and eating difficulty and retarded growth with Multiple Hereditary Osteochondromatosis (MHO). Case Report An 11-years-old boy was referred to Department of Pediatric Dentistry in Faculty of Dentistry because of eating difficulty owing to common carious lesions. It was seen that the patie...

  9. Mania associated with complicated hereditary spastic paraparesis

    OpenAIRE

    Raghavendra B Nayak; Govind S Bhogale; Nanasaheb M Patil; Aditya A Pandurangi

    2011-01-01

    Hereditary spastic paraparesis (HSP) is an inherited group of neurological disorders with progressive lower limb spasticity. HSP can be clinically grouped into pure and complicated forms. Pure HSP is one without any associated neurological/psychiatric comorbidity. Depression is the most common psychiatric comorbidity. Presence of mania or bipolar affective illness with HSP is a rare phenomenon. We report a case of a 17-year-old boy who presented with classical features of HSP with complaints ...

  10. Cellular Pathways of Hereditary Spastic Paraplegia*

    OpenAIRE

    Blackstone, Craig

    2012-01-01

    Human voluntary movement is controlled by the pyramidal motor system, a long CNS pathway comprising corticospinal and lower motor neurons. Hereditary spastic paraplegias (HSPs) are a large, genetically diverse group of inherited neurologic disorders characterized by a length-dependent distal axonopathy of the corticospinal tracts, resulting in lower limb spasticity and weakness. A range of studies are converging on alterations in the shaping of organelles, particularly the endoplasmic reticul...

  11. Current problems in haematology. 2: Hereditary spherocytosis.

    OpenAIRE

    Smedley, J C; Bellingham, A J

    1991-01-01

    Hereditary spherocytosis is a relatively common haematological disorder and will be encountered by all haematologists. The abundance of new information, dealing principally with molecular and genetic aspects of pathophysiology, is beginning to have implications for its investigation and management. While these advances have not yet exerted a large influence at therapeutic level, the promise of such advents as prenatal diagnosis make this an exciting field to watch.

  12. Multimodality imaging features of hereditary multiple exostoses

    OpenAIRE

    Kok, H K; Fitzgerald, L; Campbell, N; Lyburn, I D; Munk, P L; Buckley, O; Torreggiani, W C

    2013-01-01

    Hereditary multiple exostoses (HME) or diaphyseal aclasis is an inherited disorder characterised by the formation of multiple osteochondromas, which are cartilage-capped osseous outgrowths, and the development of associated osseous deformities. Individuals with HME may be asymptomatic or develop clinical symptoms, which prompt imaging studies. Different modalities ranging from plain radiographs to cross-sectional and nuclear medicine imaging studies can be helpful in the diagnosis and detecti...

  13. Pancreatic cancer risk in hereditary pancreatitis

    OpenAIRE

    Weiss, Frank U.

    2014-01-01

    Inflammation is part of the body’s immune response in order to remove harmful stimuli – like pathogens, irritants or damaged cells - and start the healing process. Recurrent or chronic inflammation on the other side seems a predisposing factor for carcinogenesis and has been found associated with cancer development. In chronic pancreatitis mutations of the cationic trypsinogen (PRSS1) gene have been identified as risk factors of the disease. Hereditary pancreatitis is a rare cause of chronic...

  14. Disease expression in women with hereditary angioedema

    DEFF Research Database (Denmark)

    Bouillet, Laurence; Longhurst, Hilary; Boccon-Gibod, Isabelle

    2008-01-01

    OBJECTIVE: Fluctuations in sex hormones can trigger angioedema attacks in women with hereditary angioedema. Combined oral contraceptive therapies, as well as pregnancy, can induce severe attacks. The course of angioedema may be very variable in different women. STUDY DESIGN: Within the PREHAEAT p......-sensitive phenotype for some patients. CONCLUSION: The course of angioedema in women with C1 inhibitor deficiency is affected by physiologic hormonal changes; consequently, physicians should take these into account when advising on management.......OBJECTIVE: Fluctuations in sex hormones can trigger angioedema attacks in women with hereditary angioedema. Combined oral contraceptive therapies, as well as pregnancy, can induce severe attacks. The course of angioedema may be very variable in different women. STUDY DESIGN: Within the PREHAEAT...... project launched by the European Union, data on 150 postpubertal women with hereditary angioedema were collected in 8 countries, using a patient-based questionnaire. RESULTS: Puberty worsened the disease for 62%. Combined oral contraceptives worsened the disease for 79%, whereas progestogen-only pills...

  15. Hereditary pituitary hyperplasia with infantile gigantism.

    Science.gov (United States)

    Gläsker, Sven; Vortmeyer, Alexander O; Lafferty, Antony R A; Hofman, Paul L; Li, Jie; Weil, Robert J; Zhuang, Zhengping; Oldfield, Edward H

    2011-12-01

    We report hereditary pituitary hyperplasia. The objective of the study was to describe the results of the clinical and laboratory analysis of this rare instance of hereditary pituitary hyperplasia. The study is a retrospective analysis of three cases from one family. The study was conducted at the National Institutes of Health, a tertiary referral center. A mother and both her sons had very early-onset gigantism associated with high levels of serum GH and prolactin. The condition was treated by total hypophysectomy. We performed clinical, pathological, and molecular evaluations, including evaluation basal and provocative endocrine testing, neuroradiological assessment, and assessment of the pituitary tissue by microscopic evaluation, immunohistochemistry, and electron microscopy. All three family members had very early onset of gigantism associated with abnormally high serum levels of GH and prolactin. Serum GHRH levels were not elevated in either of the boys. The clinical, radiographic, surgical, and histological findings indicated mammosomatotroph hyperplasia. The pituitary gland of both boys revealed diffuse mammosomatotroph hyperplasia of the entire pituitary gland without evidence of adenoma. Prolactin and GH were secreted by the same cells within the same secretory granules. Western blot and immunohistochemistry demonstrated expression of GHRH in clusters of cells distributed throughout the hyperplastic pituitary of both boys. This hereditary condition seems to be a result of embryonic pituitary maldevelopment with retention and expansion of the mammosomatotrophs. The findings suggest that it is caused by paracrine or autocrine pituitary GHRH secretion during pituitary development.

  16. Advances and challenges in hereditary cancer pharmacogenetics.

    Science.gov (United States)

    Cascorbi, Ingolf; Werk, Anneke Nina

    2017-01-01

    Cancer pharmacogenetics usually considers tumor-specific targets. However, hereditary genetic variants may interfere with the pharmacokinetics of antimetabolites and other anti-cancer drugs, which may lead to severe adverse events. Areas covered: Here, the impact of hereditary genes considered in drug labels such as thiopurine S-methyltransferase (TPMT), UDP-glucuronosyltransferase 1A1 (UTG1A1) and dihydropyrimidine dehydrogenase (DPYD) are discussed with respect to guidelines of the Clinical Pharmacogenetics Implementation Consortium (CPIC). Moreover, the association between genetic variants of drug transporters with the clinical outcome is comprehensively discussed. Expert opinion: Precision therapy in the field of oncology is developing tremendously. There are a number of somatic tumor genetic markers that are indicative for treatment with anti-cancer drugs. By contrast, for some hereditary variants, recommendations have been developed. Although we have vast knowledge on the association between drug transporter variants and clinical outcome, the overall data is inconsistent and the predictability of the related phenotype is low. Further developments in research may lead to the discovery of rare, but functionally relevant single nucleotide polymorphisms and a better understanding of multiple genomic, epigenomic as well as phenotypic factors, contributing to drug response in malignancies.

  17. Small-incision cataract extraction combined trabeculectomy for primary angle-closure glaucoma with cataract

    Directory of Open Access Journals (Sweden)

    Yu-Feng Wu

    2014-09-01

    Full Text Available AIM: To observe the curative effect of treating small-incision cataract extraction by intraocular lens implantation combined with trabeculectomy for primary angle-closure glaucoma with cataract. METHODS: Totally 44 cases(52 eyesof primary angle-closure glaucoma combined with cataract were selected to undergo the combined surgery, in order to observe the patients' pre- and postoperative eyesights, intraocular pressures and the postoperative complications.RESULTS: The postoperative eyesight was improved significantly as compared with the preoperative eyesight. The intraocular pressure was declined dramatically. The result was of statistical significance(P0.05. All the 52 cases' surgeries were performed by the same surgeon. The surgeries were processed smoothly, with 6 postoperative eyes of anterior chamber inflammation cell response, 3 eyes of anterior chamber fibrinoid exudate, 2 eyes of shallow anterior chamber through mydriasis and treatment with glucocorticoids and non-steroidal eyedrops before absorption, and no complications like malignant glaucoma, cyclodialysis, etc. were reported through mydriasis and pressure bandaging before recovery.CONCLUSION: Treating the primary angle-closure glaucoma combined with cataract through the combined surgery has high reliability and desirable curative effect. The surgical method is simple to learn and applicable for promotion on the basic level.

  18. A COMPARATIVE STUDY OF THE AMOUNT OF ASTIGMATISM FOLLOWING CONVENTIONAL EXTRACAPSULAR CATARACT EXTRACTION AND MANUAL SMALL INCISION CATARACT SURGERY

    Directory of Open Access Journals (Sweden)

    Rajkumari Bigyabati

    2016-06-01

    Full Text Available BACKGROUND Cataract is the principal cause of avoidable blindness in India and throughout the world. Surgical removal of the cataractous lens remains the only effective treatment for management of cataract blindness. The success of cataract surgery is determined by best and earliest visual recovery. But the occurrence of postoperative astigmatism has become a major hurdle in achieving this goal. AIMS The study was designed to compare the amount of astigmatism following conventional extracapsular cataract extraction (ECCE and manual small incision cataract surgery (SICS. MATERIALS AND METHODS The study was carried out in 100 eyes of 75 patients aged between 50 and 80 years admitted for cataract surgery. Out of these, 50 eyes were operated by conventional extracapsular cataract extraction and 50 eyes by manual small incision cataract surgery. The patients were followed up at 2 nd , 4 th , 6 th and 8 th weeks. At each follow-up visual acuity, refraction and acceptance and keratometry were recorded and the findings analysed for astigmatism. RESULTS In the current study, the mean (SD astigmatism developed at the end of the 2 nd , 4 th and 6 th of follow-up was significantly lower in the SICS group as compared to the ECCE group (P<0.000. At the end of 8 weeks of follow-up, the mean (SD astigmatism of the SICS group was 0.64±0.56 D as compared to the mean (SD of the ECCE group of 1.39±86 D and the difference was found to be significant (p<0.014. CONCLUSION The current study concludes that manual small incision cataract surgery is a better technique to control postoperative astigmatism than conventional extracapsular cataract extraction.

  19. Long-Term Results of Cataract Surgery in Patients with Unilateral Childhood Cataract

    Directory of Open Access Journals (Sweden)

    Suzan Güven Yılmaz

    2012-03-01

    Full Text Available Pur po se: To evaluate the long-term visual outcome and to determine the surgical complications after cataract surgery in patients with unilateral childhood cataract. Ma te ri al and Met hod: We retrospectively reviewed the records of 18 cases with unilateral childhood cataract who had undergone cataract surgery before the age of seven. Primary intraocular lens (IOL implantation was made in children who were older than 1 year of age. Secondary IOL implantation was made after 18 months in children who were operated before the age of 1 year and were left aphakic. Occlusion therapy was performed to all children for amblyopia postoperatively. Visual acuity and complications were evaluated in a mean follow-up period of 4.8 years. Re sults: The mean age of the 18 patients (9 female/9 male at the time of surgery was 43.6±33.7(1-84 months. Eleven (61% patients had cataract surgery after 1 year of age. Secondary IOL implantation was performed at mean 28th month in 4 of 7 aphakic patients (57% who had cataract surgery before one year of age. In 3 (43% aphakic patients, secondary IOL implantation could not be performed because of ocular pathologies such as microophthalmia. Final visual acuity was 0.5 or better in 7 eyes (39%, between 0.1 and 0.5 in 6 eyes (33%, and worse than 0.1 - in 5 eyes (28%. Of 5 eyes that had visual acuity worse than 0.1, 4 (80% had at least one additional ocular pathology such as microphthalmia, strabismus and nystagmus. Nd:YAG laser posterior capsulotomy was performed at mean 8th month in 7 of 8 (87% children whose posterior capsules were left intact at surgery. Dis cus si on: Favorable visual outcomes can be achieved with surgical intervention and complementary amblyopia treatment in children with unilateral cataract. Preoperative microphthalmia, nystagmus and strabismus are not entirely an obstacle to visual development, but they are important factors leading to low visual acuity. (Turk J Ophthalmol 2012; 42: 103-10

  20. Visual outcome after cataract surgery at the University College ...

    African Journals Online (AJOL)

    Aim: The aim of this study was to determine the visual outcome of patients who had cataract surgery in the University College Hospital Ibadan. Methodology: This is an observational descriptive, longitudinal study of consecutive patients undergoing cataract surgery at the University College Hospital conducted between May ...

  1. Delay in Surgical Uptake for Cataract Services in a Pediatric ...

    African Journals Online (AJOL)

    tulyasys

    (19%). These differences were statistically significant. (P = 0.027). Regarding laterality, out of 34, 27 (79%) children with bilateral cataracts were presented for surgery and that of 42, 29 (69%) children with unilateral cataracts were presented for the examination, however, the differences were statistically insignificant (P = 0.3) ...

  2. Combined Cataract and Glaucoma Surgery: An assessment of 68 ...

    African Journals Online (AJOL)

    Objective: To assess the best corrected visual acuity and average intraocular pressure at 6 months and one (1) year in patients with cataracts in glaucoma that had combined trabeculectomy and cataract surgery with lens implantation. Methods: A retrospective review of the case notes of patients who underwent combined ...

  3. The Impact of Cataract Surgery on Subjective Visual Functions and ...

    African Journals Online (AJOL)

    Purpose: To determine the impact of cataract surgery on visual functions (VFs) and quality of life (QoL) in patients with cataract at the National Eye Center, Kaduna. Methods: VFs and QoL questionnaires were administered to the patients preoperatively and 6 weeks postoperatively. Correlation was assessed among ...

  4. Phacoemulsification of bilateral cataracts in two pet rabbits | Gomes ...

    African Journals Online (AJOL)

    Two 3 year-old, healthy, client-owned Lop rabbits presented with bilateral cataracts. After performing a physical examination, bloodwork, ocular ultrasonography and electroretinography, both animals were deemed good surgical candidates for phacoemulsification. Bilateral cataract surgery was performed and both rabbits ...

  5. Exploiting ensemble learning for automatic cataract detection and grading.

    Science.gov (United States)

    Yang, Ji-Jiang; Li, Jianqiang; Shen, Ruifang; Zeng, Yang; He, Jian; Bi, Jing; Li, Yong; Zhang, Qinyan; Peng, Lihui; Wang, Qing

    2016-02-01

    Cataract is defined as a lenticular opacity presenting usually with poor visual acuity. It is one of the most common causes of visual impairment worldwide. Early diagnosis demands the expertise of trained healthcare professionals, which may present a barrier to early intervention due to underlying costs. To date, studies reported in the literature utilize a single learning model for retinal image classification in grading cataract severity. We present an ensemble learning based approach as a means to improving diagnostic accuracy. Three independent feature sets, i.e., wavelet-, sketch-, and texture-based features, are extracted from each fundus image. For each feature set, two base learning models, i.e., Support Vector Machine and Back Propagation Neural Network, are built. Then, the ensemble methods, majority voting and stacking, are investigated to combine the multiple base learning models for final fundus image classification. Empirical experiments are conducted for cataract detection (two-class task, i.e., cataract or non-cataractous) and cataract grading (four-class task, i.e., non-cataractous, mild, moderate or severe) tasks. The best performance of the ensemble classifier is 93.2% and 84.5% in terms of the correct classification rates for cataract detection and grading tasks, respectively. The results demonstrate that the ensemble classifier outperforms the single learning model significantly, which also illustrates the effectiveness of the proposed approach. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  6. Challenges to the Elimination of Cataract Blindness in Nigeria as ...

    African Journals Online (AJOL)

    ophthalmic manpower for primary health centers is lacking. Equipments for modern cataract surgery is lacking as only 45.2% of practitioners have them for practice in their institutions. Institutional cataract surgery output is low; averaging 50-92 a year, ...

  7. Carbon footprint and cost-effectiveness of cataract surgery.

    Science.gov (United States)

    Venkatesh, Rengaraj; van Landingham, Suzanne W; Khodifad, Ashish M; Haripriya, Aravind; Thiel, Cassandra L; Ramulu, Pradeep; Robin, Alan L

    2016-01-01

    This article raises awareness about the cost-effectiveness and carbon footprint of various cataract surgery techniques, comparing their relative carbon emissions and expenses: manual small-incision cataract surgery (MSICS), phacoemulsification, and femtosecond laser-assisted cataract surgery. As the most commonly performed surgical procedure worldwide, cataract surgery contributes significantly to global climate change. The carbon footprint of a single phacoemulsification cataract surgery is estimated to be comparable to that of a typical person's life for 1 week. Phacoemulsification has been estimated to be between 1.4 and 4.7 times more expensive than MSICS; however, given the lower degree of postoperative astigmatism and other potential complications, phacoemulsification may still be preferable to MSICS in relatively resource-rich settings requiring high levels of visual function. Limited data are currently available regarding the environmental and financial impact of femtosecond laser-assisted cataract surgery; however, in its current form, it appears to be the least cost-effective option. Cataract surgery has a high value to patients. The relative environmental impact and cost of different types of cataract surgery should be considered as this treatment becomes even more broadly available globally and as new technologies are developed and implemented.

  8. Risk factors which cause senile cataract evolvement: outline

    Directory of Open Access Journals (Sweden)

    E.V. Bragin

    2018-03-01

    Full Text Available Examination of natural ageing processes including those caused by multiple external factors has been attracting re-searchers' attention over the last years. Senile cataract is a multi-factor disease. Expenditure on cataract surgery remain one of the greatest expenses items in public health care. Age is a basic factor which causes senile cataract. Morbidity with cataract doubles each 10 years of life. This outline considers some literature sources which describe research results on influence exerted on cataract evolvement by such risk factors as age, sex, race, smoking, alcohol intake, pancreatic diabetes, intake of certain medications, a number of environmental factors including ultraviolet and ionizing radiation. mane of these factors are shown to increase or reduce senile cataract risk; there are conflicting data on certain factors. The outline also contains quantitative characteristics of cataract risks which are given via odds relation and evolve due to age parameters impacts, alcohol intake, ionizing radiation, etc. The authors also state that still there is no answer to the question whether dose-effect relationship for cataract evolvement is a threshold or non-threshold.

  9. Solar cataract: A clinical report | Ahuama | Journal of Health and ...

    African Journals Online (AJOL)

    Solar Ultraviolet radiation is caractogenic, as there is increasing evidence implicating ultraviolet radiation as a risk factor in the aetiology of cataracts. Through absorption from sunlight exposure especially into the violet and of the visible range of the solar spectrum, cataract formation may occur due to physiochemical ...

  10. retrobulbar versus sub-conjunctival anaesthesia for cataract surgery ...

    African Journals Online (AJOL)

    DDS EYE CENTER

    Aim: To test the efficacy of subconjunctival anaesthesia (SCA) for cataract surgery against the established retrobulbar anaesthesia (RBA). Methods: This was a prospective study of 73 adults (44 males, 29 females) selected for cataract surgery and intraocular lens. (IOL) implants under local anaesthesia. Their ages ranged.

  11. Cataract and progressing keratoconus — solution?

    Directory of Open Access Journals (Sweden)

    K. B. Pershin

    2015-01-01

    Full Text Available Purpose: To develop an uniform method of the treatment for patients with progressive keratoconus (stage 1‑2 and cataract. Patients and methods: 4 patients (5 eyes with cataract and progressive keratoconus stage 1‑2 were enrolled in the study. Mean age was 42 years. In all patients, standard ophthalmic examination as well corneal topography, anterior segment optical coherence tomography, biometry, and IOL power calculations using IOLMaster were performed. Mean uncorrected visual acuity (UCVA was 0.1 while mean best-corrected visual acuity (BCVA was 0.4. Surgical technique included two steps. The first step was the creation of corneal tunnels with femtosecond laser with subsequent phaco and monofocal aspheric IOL implantation. The second step (1‑2 weeks later was the implantation of intrastromal ring segments based on corneal topography and corneal crosslinking.Results: After the first step, all patients had myopic refraction (from –1.0 D to –2.5 D. Cylindrical component was almost unchanged. After the second step, the patients reported the vision improvement, mainly due to UCVA. Both spherical (myopic and cylindrical components decreased, mainly due to the steep meridian. After the treatment, optical power of the cornea decreased, mainly due to the steep meridian. UCVA was 0.6 or more in 60 % of cases, final BCVA was 0.8‑1.0 in 80 % of cases. Neither intraoperative nor postoperative (follow-up was 2 years complications were observed.Conclusions: Combined phaco and prior creation of corneal tunnels with subsequent intrastromal ring segment implantation and crosslinking in patients with cataract and progressive keratoconus stage 1‑2 is safe, provides good predictable outcome and significantly reduces rehabilitation period.

  12. Internal wave structures in abyssal cataract flows

    Science.gov (United States)

    Makarenko, Nikolay; Liapidevskii, Valery; Morozov, Eugene; Tarakanov, Roman

    2014-05-01

    We discuss some theoretical approaches, experimental results and field data concerning wave phenomena in ocean near-bottom stratified flows. Such strong flows of cold water form everywhere in the Atlantic abyssal channels, and these currents play significant role in the global water exchange. Most interesting wave structures arise in a powerful cataract flows near orographic obstacles which disturb gravity currents by forced lee waves, attached hydraulic jumps, mixing layers etc. All these effects were observed by the authors in the Romanche and Chain fracture zones of Atlantic Ocean during recent cruises of the R/V Akademik Ioffe and R/V Akademik Sergei Vavilov (Morozov et al., Dokl. Earth Sci., 2012, 446(2)). In a general way, deep-water cataract flows down the slope are similar to the stratified flows examined in laboratory experiments. Strong mixing in the sill region leads to the splitting of the gravity current into the layers having the fluids with different densities. Another peculiarity is the presence of critical layers in shear flows sustained over the sill. In the case under consideration, this critical level separates the flow of near-bottom cold water from opposite overflow. In accordance with known theoretical models and laboratory measurements, the critical layer can absorb and reflect internal waves generated by the topography, so the upward propagation of these perturbations is blocked from above. High velocity gradients were registered downstream in the vicinity of cataract and it indicates the existence of developed wave structures beyond the sill formed by intense internal waves. This work was supported by RFBR (grants No 12-01-00671-a, 12-08-10001-k and 13-08-10001-k).

  13. Evaluation of diopter after cataract surgery in high myopia combined cataract

    Directory of Open Access Journals (Sweden)

    Wan-Qi Zhang

    2015-02-01

    Full Text Available AIM: To observe the diopter after cataract surgery for vision gain in high myopia and its effect on visual outcomes. METHODS: Sixty(120 eyeshigh myopia combined with cataract cases received phacoemulsification and intraocular lens implantation in our hospital were retrospective studied. The patients were divided into three groups based on postoperative diopter: -1.0~-2.0D(group A, -2.25~-3.0D(group Band -3.25~-4.0D(group C. The uncorrected distance visual acuity(UCDVA, best corrected distant visual acuity(BCDVA, uncorrected near visual acuity(UCNVAand questionnaire of Activities of Daily Vision Scale(ADVSwere collected to assess the vision gain at 3mo after cataract surgery. RESULTS: At 3mo after surgery, UCDVA of group A was better than that of group B, and UCDVA of group B was better than that of group C. There were no differences in BCDVA among groups. There were significant differences between the three groups' UCNVA, it was best for the group C, followed by the group B, group A was the worst. For questionnaire, no difference was observed in patients' satisfactory for surgical results, but a significant difference was detected in postoperative glasses wearing frequency between groups. CONCLUSION:For cataract surgery in high myopia combined cataract, postoperative diopter should be calculated based on patients' daily requirements. For patients had not used to wearing glasses and near distant working condition, it's appropriated to reserve a minor degree of myopia. Conversely, for patients require near distant working and received wearing moderate and low hyperopia mirror, higher degree of myopia can be reserved.

  14. Simultaneous bilateral cataract surgery: economic analysis; Helsinki Simultaneous Bilateral Cataract Surgery Study Report 2.

    Science.gov (United States)

    Leivo, Tiina; Sarikkola, Anna-Ulrika; Uusitalo, Risto J; Hellstedt, Timo; Ess, Sirje-Linda; Kivelä, Tero

    2011-06-01

    To present an economic-analysis comparison of simultaneous and sequential bilateral cataract surgery. Helsinki University Eye Hospital, Helsinki, Finland. Economic analysis. Effects were estimated from data in a study in which patients were randomized to have bilateral cataract surgery on the same day (study group) or sequentially (control group). The main clinical outcomes were corrected distance visual acuity, refraction, complications, Visual Function Index-7 (VF-7) scores, and patient-rated satisfaction with vision. Health-care costs of surgeries and preoperative and postoperative visits were estimated, including the cost of staff, equipment, material, floor space, overhead, and complications. The data were obtained from staff measurements, questionnaires, internal hospital records, and accountancy. Non-health-care costs of travel, home care, and time were estimated based on questionnaires from a random subset of patients. The main economic outcome measures were cost per VF-7 score unit change and cost per patient in simultaneous versus sequential surgery. The study comprised 520 patients (241 patients included non-health-care and time cost analyses). Surgical outcomes and patient satisfaction were similar in both groups. Simultaneous cataract surgery saved 449 Euros (€) per patient in health-care costs and €739 when travel and paid home-care costs were included. The savings added up to €849 per patient when the cost of lost working time was included. Compared with sequential bilateral cataract surgery, simultaneous bilateral cataract surgery provided comparable clinical outcomes with substantial savings in health-care and non-health-care-related costs. No author has a financial or proprietary interest in any material or method mentioned. Copyright © 2011 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  15. The risk of cataract in relation to metal arc welding

    DEFF Research Database (Denmark)

    Slagor, Rebekka Michaelsen; Dornonville de la Cour, Morten; Bonde, Jens Peter

    2016-01-01

    .95–1.21] and the adjusted HR was 1.08 (95% CI 0.95–1.22). Age and diabetes were as expected strong risk factors. Conclusion: We found no increased risk of developing cataract among Danish metal welders who worked with arc welding from 1950–1985. This may be attributed to the effectiveness of personal safety equipment....... increases the risk of cataract. Method: We compared the risk of being diagnosed with cataract from 1987–2012 in a historic cohort of 4288 male metal arc welders against a reference group comprised of Danish skilled and unskilled male workers with similar age distribution. For the welders’ cohort...... adjusted for baseline data regarding age, diabetes, and social group. Results: There were 266 welders and 29 007 referents with a diagnosis and/or operation for cataract. The unadjusted HR for cataract comparing ever-welders with referents was 1.07 [95% confidence interval (95% CI) 0...

  16. Cataract surgery in Knobloch syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Bongiovanni CS

    2011-06-01

    Full Text Available Carmen Sílvia Bongiovanni1, Carla Cristina Serra Ferreira1, Ana Paula Silvério Rodrigues1, João Borges Fortes Filho2, Márcia Beatriz Tartarella11Department of Ophthalmology, Congenital Cataract Section, Medical School, Federal University of São Paulo, São Paulo; 2Department of Ophthalmology, Medical School, Federal University of Rio Grande do Sul, Porto Alegre, BrazilAbstract: Knobloch syndrome is an autosomal recessive disorder associated with early-onset ocular abnormalities and central nervous system malformations. Ocular abnormalities are usually severe, and include high myopia, vitreoretinal degeneration, retinal detachment, macular abnormalities, and cataract. The most frequent systemic changes are midline malformations of the brain, ventricular dilation, and occipital encephalocele. Cognitive delay may occur. We report a case of cataract in a child with Knobloch syndrome. Cataract surgery and follow-up are described.Keywords: Knobloch syndrome, cataract, phacoemulsification, vitreous, right eye, left eye, genetic

  17. Recent advances in femtosecond laser-assisted cataract surgery

    Directory of Open Access Journals (Sweden)

    Zhao-Jie Chu

    2013-07-01

    Full Text Available Perfect vision and fewer complications is our goal in cataract surgery, femtosecond laser-assisted cataract surgery hold the promise. Applications of femtosecond laser technology for capsulotomy, nuclear fragmentation and corneal incision in cataract surgery bring a new level of accuracy, reproducibility and predictability over the current cataract surgery. The femtosecond laser produces capsulotomies that are more precise, accurate, reproducible, and stronger than those created with the conventional manual technique, and further helps maintain proper positioning of the IOL. Femtosecond laser in nuclear fragmentation lead to a lower effective phacoemulsification time, and the corneal incision is more stable. But currently there are some complications and a clear learning curve associated with the use of femtosecond lasers for cataract surgery. The long-term safety and visual outcomes still need further investigation.

  18. Glaucoma and cataract surgery: two roads merging into one.

    Science.gov (United States)

    Shah, Manjool; Law, Geoffrey; Ahmed, Iqbal Ike K

    2016-01-01

    To discuss the increasing utilization of cataract extraction in the management of glaucoma and to highlight advances in surgical care that can promote synergistic treatment of these comorbid conditions. Recent years have demonstrated significant advances in the management of glaucoma through the use of novel microinvasive glaucoma devices. Furthermore, an increased understanding of the role of cataract surgery in the treatment of various glaucomas warrants review. Nevertheless, cataract surgery in the glaucoma patient warrants specific preoperative, intraoperative, and postoperative planning to optimize visual function and quality of life while mitigating potential risk factors for adverse events. Although the challenges of performing cataract extraction on glaucoma patients exist, the potential benefit to these patients is substantial. With attention to pre- and perioperative surgical planning and intraoperative technique, as well as with awareness and potential utilization of novel devices and treatment strategies, cataract extraction offers a unique platform for anatomical and functional improvement in this increasingly common cohort of patients.

  19. Mortality after endophthalmitis following contemporary phacoemulsification cataract surgery.

    Science.gov (United States)

    Crosby, Niall; Polkinghorne, Philip J; Kim, Bia; McGhee, Charles; Welch, Sarah; Riley, Andrew

    2018-04-24

    To determine if endophthalmitis following cataract surgery is linked to increased mortality. Increased mortality has been linked to patients with cataract and cataract surgery. We tested the hypothesis that post-cataract endophthalmitis has a greater risk of death than pseudophakes who do not develop this complication. Case-control study conducted in a tertiary public hospital. The study group comprised 50 consecutive patients with post-cataract endophthalmitis, and these were matched with selected controls. Patients with endophthalmitis following cataract surgery were identified from a prospective electronic surgical database. Subsequently, it was determined if the patient was deceased at the time of sequestration (September 2015), and the date of death was recorded. A previously described population who had undergone cataract surgery in the same facility was selected as a control group, and the population was case-matched in terms age, gender, presence or absence of diabetes and/or hypertension. The median survival rates were determined for the control group and the patients with post-cataract endophthalmitis. Fifty patients were identified as undergoing endophthalmitis post-cataract surgery, and 48 (n = 48) met inclusion criteria (mean age 72 years ±12 SD with 30:18 F:M); 17% were diabetic, and 50% had systemic hypertension. No statistically significant difference in median survival between the study and control cases was identified (100 months (95% confidence interval 86-114) vs. 106 months (95% confidence interval 66-146), respectively, P = 0.756). Post-cataract endophthalmitis was not associated with an increased rate of mortality in this study. © 2018 Royal Australian and New Zealand College of Ophthalmologists.

  20. Bilateral Electrical Cataract: A Case Report

    Directory of Open Access Journals (Sweden)

    Selçuk Sızmaz

    2011-06-01

    Full Text Available To present a rare complication, such as bilateral cataracts, in a man who sustained a high-voltage electrical injury. A 35- year-old man was admitted with a complaint of decrease in visual acuity. He had a history of a contact with a power line carrying 30.000 volts of electricity while working at a construction site. Examination at a burn center revealed second-degree facial, neck and left foot burns. One month later, the patient underwent amputation of fourth and fifth toes of his left foot. During the next 6 months, he noted decreasing vision in both eyes. Ocular examination 1 year after the accident revealed that the patient’s visual acuity had deteriorated to 1/10 in both eyes. The cornea on the left eye showed superficial punctate opacities. The lenses in both eyes had anterior subcapsular cortical lens opacities and posterior subcapsular opacities. Uncomplicated bilateral phacoemulsification surgery with intraocular lens implantation was performed and the patient’s visual acuity returned to 10/10 in both eyes. We noted that the fundus remained normal in both eyes. Electrical cataracts are still a serious potential complication that may occur after electrical injury. Awareness of this by burn team members is important for providing optimal treatment to those who have suffered an electrical injury. (Turk J Ophthalmol 2011; 41: 197-9

  1. Human lens colouration, age and cataract

    International Nuclear Information System (INIS)

    Truscott, R.J.W.; Garner, B.; Hood, B.

    1999-01-01

    Full text: The human lens biosynthesises UV filter compounds which effectively remove light in the 300-400nm band. These chemicals are present either as an aid to visual acuity, or to filter out damaging UV radiation. The primate UV filters are 3-hydroxykynurenine analogues derived from the metabolism of tryptophan. We have recently demonstrated that these endogenous UV filters are not innocuous, but are in fact capable of binding to proteins, including the crystalline proteins which make up the bulk of the lens. Thus, over time, the levels of protein - bound UV filters increase and this results in the human lens becoming progressively more yellow as we age. This colouration affects our colour vision and it may also be responsible for the brown colour of lenses which is the hallmark of age-related nuclear cataract. An understanding of the intrinsic instability of the endogenous UV filters, combined with changes in the internal transport of these and other small molecular weight compounds including antioxidants, such as glutathione, is allowing us to gain an insight into the processes responsible for the development of age-related cataract: the major cause of world blindness

  2. Management of cataract in uveitis patients.

    Science.gov (United States)

    Conway, Mandi D; Stern, Ethan; Enfield, David B; Peyman, Gholam A

    2018-01-01

    This review is timely because the outcomes of surgical invention in uveitic eyes with cataract can be optimized with adherence to strict anti-inflammatory principles. All eyes should be free of any cell/ flare for a minimum of 3 months preoperatively. Another helpful maneuver is to place dexamethasone in the infusion fluid or triamcinolone intracamerally at the end of surgery. Recent reports about the choice of intraocular lens material or lens design are germane to the best surgical outcome. Integrating these findings will promote better visual outcomes and allow advancement in research to further refine these surgical interventions in high-risk uveitic eyes. Control of inflammation has been shown to greatly improve postoperative outcomes in patients with uveitis. Despite better outcomes, more scientific research needs to be done regarding lens placement and materials and further research needs to adhere to the standardized reporting of uveitis nomenclature. Future studies should improve postoperative outcomes in eyes with uveitis so that they approach those of eyes undergoing routine cataract procedures.

  3. How to prevent endophthalmitis in cataract surgeries?

    Directory of Open Access Journals (Sweden)

    Kelkar Aditya

    2008-01-01

    Full Text Available Postoperative endophthalmitis is a very devastating complication and every step should be taken to reduce its occurrence. Unattended air conditioning filter systems are often the culprits and regular maintenance of the filters is of paramount importance. Shedders of pathogenic organisms amongst the theater personnel should be identified by regular screening and should be promptly treated. In addition to the use of Povidone iodine 5% solution in the conjunctival sac few minutes prior to surgery, proper construction of wound, injectable intraocular lenses, use of prophylactic intracameral antibiotics or prophylactic subconjunctival antibiotic injection at the conclusion of cataract surgery, placing a patch after the surgery for at least 4 h and initiating topical antibiotics from the same day of surgery helps to lower the frequency of postoperative endophthalmitis. Intraoperative posterior capsule rupture and anterior vitrectomy are risk factors for acute endophthalmitis, and utmost care to prevent posterior capsular rent should be taken while performing cataract surgery. Also, in case of such complication, these patients should be closely monitored for early signs of endophthalmitis in the postoperative period. In the unfortunate event of endophthalmitis the diagnosis should be prompt and treatment must be initiated as early as possible.

  4. Hereditary Colorectal Cancer (CRC Program in Latvia

    Directory of Open Access Journals (Sweden)

    Irmejs Arvids

    2003-12-01

    Full Text Available Abstract Introduction The aim of the study is to evaluate the incidence and phenotype - genotype characteristics of hereditary colorectal cancer syndromes in Latvia in order to develop the basis of clinical management for patients and their relatives affected by these syndromes. Materials and methods From 02/1999-09/2002 in several hospitals in Latvia cancer family histories were collected from 865 patients with CRC. In families suspected of having a history consistent with a hereditary colorectal cancer syndrome, DNA testing for MLH1, MSH2 and MSH6 genes was performed. In addition immunohistochemical (IH examination of the normal and cancer tissue from large bowel tumors for MSH2 and MSH6 protein expression was performed prior to DNA analysis. Results From the 865 CRC cases only 3 (0.35% pedigrees fulfilled the Amsterdam II criteria of Hereditary Nonpolyposis Colorectal Cancer (HNPCC and 15 cases (1.73% were suspected of HNPCC. In 69 cases (8% with a cancer family aggregation (CFA were identified. Thus far 27 IH analyses have been performed and in 3 cancers homogenous lack of MSH2 or MSH6 protein expression was found. In one of these cases a mutation in MSH6 was identified. In 18 patients suspected of HNPCC or of matching the Amsterdam II criteria, denaturing high performance liquid chromatography (DHPLC followed by DNA sequencing of any heteroduplexes of the 35 exons comprising both MLH1 and MSH2 was performed revealing 3 mutations. For all of kindreds diagnosed definitively or with a high probability of being an HNPCC family appropriate recommendations concerning prophylactic measures, surveillance and treatment were provided in written form. Conclusions Existing pedigree/clinical data suggest that in Latvia the frequency of HNPCC is around 2% of consecutive colorectal cancer patients. It is crucial that genetic counseling is an integral part of cancer family syndrome management.

  5. Role of cataract surgery in lowering intraocular pressure

    International Nuclear Information System (INIS)

    Ahmad, S.; Sabih, A.

    2015-01-01

    To study the effects of cataract surgery in lowering of intraocular pressure (IOP). Study Design: Retrospective study. Place and Duration of Study: The Department of Ophthalmology, Combined Military Hospital, Rawalpindi from January 2011 to December 2013. Patients and Methods: The study included a total of 250 patients; of which 100 cases had simple cataract with no coexisting disease, 100 cases had cataract with primary open angle glaucoma and 50 cases of cataract had accompanying pseudoexfoliation glaucoma. All patients were assessed and recorded preoperatively for their IOP, vision, depth of anterior chamber (ACD), angle of anterior chamber by gonioscopy and glaucoma medications being used. Cataract surgery was performed by phacoemulsification and IOL implantations in all cases. These patients were followed up for a period of six months. Results: The intraocular ressure of all these patients was recorded at monthly interval for six months. The IOP showed a significant decrease in all cases and remained constant till the end of the study. A marked improvement of vision was noted in all cases. The depth of the anterior chamber increased and the angle also widened in all cases. Discussion: Cataract surgery has been found to reduce IOP along with improvement in vision. Patients with glaucoma have a dual benefit of reduced IOP and visual improvement after cataract surgery. (author)

  6. Risk of occupational radiation-induced cataract in medical workers

    International Nuclear Information System (INIS)

    Snezana, Milacic

    2008-01-01

    The objective of this study was determination of criteria for recognition of a pre senile cataract as a professional disease in health care personnel exposed to small doses of ionizing radiation. Method: The study included 3240 health workers in medical centers of Serbia in the period 1992-2002. A total of 1560 workers were employed in the zone (group A) and 1680 out of ionizing radiation zone (group B). Among group A, two groups had been selected: 1. Group A-1: Health workers in the ionizing radiation zone who contracted lens cataract during their years of service while dosimetry could not reveal higher absorbed dose (A-1=115); 2. Group A-2: Health workers in the ionizing radiation zone with higher incidence of chromosomal aberrations and without cataract (A-2=100). Results: More significant incidence of cataract was found in group A, χ 2 =65.92; p<0.01. Radiation risk was higher in health workers in radiation zone than in others, relative risk is 4, 6. Elevated blood sugar level was found in higher percentage with health workers working in radiation zone who developed cataract. Conclusion: Low doses of radiation are not the cause of occupational cataract as individual occupational disease. X-ray radiation may be a significant cofactor of cataract in radiological technicians. (author)

  7. Evaluation of the macula prior to cataract surgery.

    Science.gov (United States)

    McKeague, Marta; Sharma, Priya; Ho, Allen C

    2018-01-01

    To describe recent evidence regarding methods of evaluation of retinal structure and function prior to cataract surgery. Studies in patients with cataract but no clinically detectable retinal disease have shown that routine use of optical coherence tomography (OCT) prior to cataract surgery can detect subtle macular disease, which may alter the course of treatment or lead to modification of consent. The routine use of OCT has been especially useful in patients being considered for advanced-technology intraocular lenses (IOLs) as subtle macular disease can be a contraindication to the use of these lenses. The cost-effectiveness of routine use of OCT prior to cataract surgery has not been studied. Other technologies that assess retinal function rather than structure, such as microperimetry and electroretinogram (ERG) need further study to determine whether they can predict retinal potential in cataract patients. There is growing evidence for the importance of more detailed retinal evaluation of cataract patients even with clinically normal exam. OCT has been the most established and studied method for retinal evaluation in cataract patients, but other technologies such as microperimetry and ERG are beginning to be studied.

  8. The Effect of Cataract on Eye Movement Perimetry

    Directory of Open Access Journals (Sweden)

    G. Thepass

    2015-01-01

    Full Text Available Purpose. To determine how different grades of cataract affect sensitivity threshold and saccadic reaction time (SRT in eye movement perimetry (EMP. Methods. In EMP, the visual field is tested by assessing the saccades that a subject makes towards peripheral stimuli using an eye tracker. Forty-eight cataract patients underwent pre- and postoperative EMP examination in both eyes. The subjects had to fix a central stimulus presented on the eye tracker monitor and to look at any detected peripheral stimulus upon its appearance. A multilevel mixed model was used to determine the factors that affected the sensitivity threshold and the SRT as a function of cataract grade. Results. We found no effect of cataract severity (LOCS III grades I through IV on SRT and the sensitivity thresholds. In cataract of LOCS III grade V, however, we found an increase by 27% and 21% (p<0.001, respectively, compared to the SRT and the sensitivity threshold in LOCS III grade I. Eyes that underwent cataract surgery showed no change in mean SRTs and sensitivity thresholds after surgery in LOCS III grade IV and lower. Conclusion. The present study shows that EMP can be readily used in patients with cataract with LOCS III grade IV and below.

  9. Brain abscesses and hereditary hemorrhagic telangiectasia

    International Nuclear Information System (INIS)

    Vives, Daniel A.; Bauni, Carlos E.; Mendoza, Monica E.

    2003-01-01

    Rendu-Osler-Weber disease or Hereditary Hemorrhagic Telangiectasia (HHT) is a generalized familial angiodysplastic disorder. The neurological manifestations of this entity are due to Central Nervous System vascular lesions or to complications of other visceral lesions such as pulmonary arteriovenous fistulae. This report describes two patients (males, 40 and 61 years old), with brain abscesses associated with HHT. The CT, MRI and Angiographic findings as well as the therapeutic approach are analyzed. Patients with brain abscess of unknown origin must be evaluated for the presence of lung vascular malformation in association with HHT. (author)

  10. Bone scintigraphy in hereditary multiple exostoses

    International Nuclear Information System (INIS)

    Epstein, D.A.; Levin, E.J.

    1978-01-01

    Two adult patients with multiple hereditary exostoses, a skeletal disorder with recognized malignant potential, each demonstrated increased /sup 99m/Tc diphosphonate uptake in an exostosis in which renewed growth had begun. None of the other multiple exostoses in either patient showed abnormal uptake. Histologic study of the lesions demonstrated chondrosarcoma in one case and benign osteochondroma in the second. Although bone scintigraphy nonspecifically identifies bone growth rather than malignant degeneration, it is more useful than radiographic bone survey in the periodic surveillance of adult patients with this disorder

  11. Skin deposits in hereditary cystatin C amyloidosis

    DEFF Research Database (Denmark)

    Benedikz, Eirikur; Blöndal, H; Gudmundsson, G

    1990-01-01

    Clinically normal skin from 47 individuals aged 9-70 years was investigated. Cystatin C amyloid deposits were found in various locations of the skin by light and/or electron microscopy, in all 12 patients with a clinical history of hereditary cystatin C amyloidosis (HCCA). Six asymptomatic...... individuals, who had the Alu 1 restriction fragment length polymorphism (RFLP) marker reported to cosegregate with the disease, also had cystatin C amyloid deposits in the skin. Three asymptomatic individuals (age 17-46) belonging to the HCCA families were without amyloid in the skin but had Alu 1 RFLP marker...

  12. Knowledge regarding basic concepts of hereditary cancers, and the ...

    African Journals Online (AJOL)

    Background. In families with hereditary cancer, at-risk individuals can benefit from genetic counselling and testing. General practitioners (GPs) are ideally placed to identify such families and refer them appropriately. Objective. To assess the practices, knowledge and attitudes of GPs regarding common hereditary cancers.

  13. Review: Clinical aspects of hereditary DNA Mismatch repair gene mutations

    NARCIS (Netherlands)

    Sijmons, Rolf H.; Hofstra, Robert M. W.

    Inherited mutations of the DNA Mismatch repair genes MLH1, MSH2, MSH6 and PMS2 can result in two hereditary tumor syndromes: the adult-onset autosomal dominant Lynch syndrome, previously referred to as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and the childhood-onset autosomal recessive

  14. Attitude towards pre-implantation genetic diagnosis for hereditary cancer

    NARCIS (Netherlands)

    Lammens, Chantal; Bleiker, Eveline; Aaronson, Neil; Vriends, Annette; Ausems, Margreet; Jansweijer, Maaike; Wagner, Anja; Sijmons, Rolf; van den Ouweland, Ans; van der Luijt, Rob; Spruijt, Liesbeth; Gómez García, Encarna; Ruijs, Mariëlle; Verhoef, Senno

    2009-01-01

    The use of pre-implantation genetic diagnosis (PGD) for hereditary cancer is subject to on-going debate, particularly among professionals. This study evaluates the attitude towards PGD and attitude-associated characteristics of those concerned: family members with a hereditary cancer predisposition.

  15. Hereditary lymphedema of the leg – A Case Report

    NARCIS (Netherlands)

    Heinig, Birgit; Lotti, T.; Tchernev, Georgi; Wollina, Uwe

    2017-01-01

    Primary of hereditary lymphedema is a rare but progressive disease. It is yet not curable. We present a 48-year-old male patient with hereditary lymphedema of his left leg, that was realised by minor trauma (able twist) when he was seven years old. He had never been treated for lymphedema but

  16. Systemic aspirin and systemic vitamin E in senile cataracts : cataract V

    Directory of Open Access Journals (Sweden)

    Sharma Y

    1989-01-01

    Full Text Available We undertook a prospective study in senile cataract patients using systemic aspirin and systemic vitamin E. Vitamin E treated eyes did show less progression of PSC opacities extent and less new nuclear opacities during the follow-up, but overall vitamin E treated eyes did no better than the control group eyes. More eyes in systemic aspirin treated group maintained the initial vision and loss of vision in the aspirin group was also less marked. Aspirin also caused a significant less mean increase in cortical opacity extent, nuclear/opacity and density and PSC opacity extent and density as well as in ophthalmoscopically graded opacity extent and density. We suggest that aspirin is a potential drug which should be further evaluated in large double blind photodocumentated studies. The present data does not justify the recommendation that aspirin be prescribed for slowing down cataract progression. This must await large studies and confirmation.

  17. Cataract and keratoconus: minimizing complications in intraocular lens calculations.

    Science.gov (United States)

    Bozorg, Sara; Pineda, Roberto

    2014-01-01

    Patients with both cataract and keratoconus present unique challenges for the surgeon. Accurate keratometry (K) and axial length (AL) readings may be impossible, and uncertainty is introduced when estimating the corneal power for intraocular lens (IOL) selection. Different options on how to choose an IOL and how to manage irregular astigmatism of a keratoconic patient with cataract have been proposed and are reviewed. The stage of keratoconus and the history of the patient are both critical in determining the strategy used in treatment of cataracts.

  18. Genetic profiles distinguish different types of hereditary ovarian cancer

    DEFF Research Database (Denmark)

    Domanska, Katarina; Malander, Susanne; Staaf, Johan

    2010-01-01

    (HBOC) syndrome and the hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Genome-wide array comparative genomic hybridization was applied to 12 HBOC associated tumors with BRCA1 mutations and 8 HNPCC associated tumors with mismatch repair gene mutations with 24 sporadic ovarian cancers......Heredity represents the strongest risk factor for ovarian cancer with disease predisposing mutations identified in 15% of the tumors. With the aim to identify genetic classifiers for hereditary ovarian cancer, we profiled hereditary ovarian cancers linked to the hereditary breast and ovarian cancer...... that HBOC and HNPCC associated ovarian cancer develop along distinct genetic pathways and genetic profiles can thus be applied to distinguish between different types of hereditary ovarian cancer....

  19. BRCA1/2 associated hereditary breast cancer

    Institute of Scientific and Technical Information of China (English)

    Li-song TENG; Yi ZHENG; Hao-hao WANG

    2008-01-01

    Breast cancer is one of the leading causes of death in women today. Some of the patients are hereditary, with a large proportion characterized by mutation in BRCA1 and/or BRCA2 genes. In this review, we provide an overview of these two genes,focusing on their relationship with hereditary breast cancers. BRCA1/2 associated hereditary breast cancers have unique features that differ from the general breast cancers, including alterations in cellular molecules, pathological bases, biological behavior, and a different prevention strategy. But the outcome of BRCA1/2 associated hereditary breast cancers still remains controversial;further studies are needed to elucidate the nature of BRCA1/2 associated hereditary breast cancers.

  20. Simultaneous vs sequential bilateral cataract surgery for infants with congenital cataracts: Visual outcomes, adverse events, and economic costs.

    Science.gov (United States)

    Dave, Hreem; Phoenix, Vidya; Becker, Edmund R; Lambert, Scott R

    2010-08-01

    To compare the incidence of adverse events and visual outcomes and to compare the economic costs of sequential vs simultaneous bilateral cataract surgery for infants with congenital cataracts. Retrospective review of simultaneous vs sequential bilateral cataract surgery for infants with congenital cataracts who underwent cataract surgery when 6 months or younger at our institution. Records were available for 10 children who underwent sequential surgery at a mean age of 49 days for the first eye and 17 children who underwent simultaneous surgery at a mean age of 68 days (P = .25). We found a similar incidence of adverse events between the 2 treatment groups. Intraoperative or postoperative complications occurred in 14 eyes. The most common postoperative complication was glaucoma. No eyes developed endophthalmitis. The mean (SD) absolute interocular difference in logMAR visual acuities between the 2 treatment groups was 0.47 (0.76) for the sequential group and 0.44 (0.40) for the simultaneous group (P = .92). Payments for the hospital, drugs, supplies, and professional services were on average 21.9% lower per patient in the simultaneous group. Simultaneous bilateral cataract surgery for infants with congenital cataracts is associated with a 21.9% reduction in medical payments and no discernible difference in the incidence of adverse events or visual outcomes. However, our small sample size limits our ability to make meaningful comparisons of the relative risks and visual benefits of the 2 procedures.

  1. Microincision versus small-incision coaxial cataract surgery using different power modes for hard nuclear cataract.

    Science.gov (United States)

    Kim, Eun Chul; Byun, Yong Soo; Kim, Man Soo

    2011-10-01

    To compare the efficacy of microincision and small-incision coaxial phacoemulsification in treating hard cataracts using different ultrasound power modes. Department of Ophthalmology, Seoul St. Mary's Hospital, College of Medicine, Catholic University of Korea, Seoul, Korea. Randomized clinical trial. Eyes with hard cataract were randomized to have an initial incision of 1.80 mm, 2.20 mm, or 2.75 mm. The eyes in each group were equally randomized to treatment with burst, pulse, or continuous mode. Ultrasound time (UST), mean cumulative dissipated energy (CDE), corrected distance visual acuity (CDVA), surgically induced corneal astigmatism, incisional and central corneal thickness (CCT), and endothelial cell counts were evaluated. The study enrolled 180 eyes, 60 in each group. Two months postoperatively, there were no statistically significant differences in UST, CDE, CDVA, CCT, or percentage endothelial cell loss between the 3 incision groups. The 2.75 mm incision induced more astigmatism at 2 months and less incisional corneal edema at 1 week than the 1.80 mm or 2.20 mm incision (Phard cataract. The intraoperative energy use and ocular damage was less with the pulse and burst modes than with the continuous mode. No author has a financial or proprietary interest in any material or method mentioned. Copyright © 2011 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  2. αA-crystallin R49Cneo mutation influences the architecture of lens fiber cell membranes and causes posterior and nuclear cataracts in mice

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    Andley Usha P

    2009-07-01

    Full Text Available Abstract Background αA-crystallin (CRYAA/HSPB4, a major component of all vertebrate eye lenses, is a small heat shock protein responsible for maintaining lens transparency. The R49C mutation in the αA-crystallin protein is linked with non-syndromic, hereditary human cataracts in a four-generation Caucasian family. Methods This study describes a mouse cataract model generated by insertion of a neomycin-resistant (neor gene into an intron of the gene encoding mutant R49C αA-crystallin. Mice carrying the neor gene and wild-type Cryaa were also generated as controls. Heterozygous knock-in mice containing one wild type gene and one mutated gene for αA-crystallin (WT/R49Cneo and homozygous knock-in mice containing two mutated genes (R49Cneo/R49Cneo were compared. Results By 3 weeks, WT/R49Cneo mice exhibited large vacuoles in the cortical region 100 μm from the lens surface, and by 3 months posterior and nuclear cataracts had developed. WT/R49Cneo mice demonstrated severe posterior cataracts at 9 months of age, with considerable posterior nuclear migration evident in histological sections. R49Cneo/R49Cneo mice demonstrated nearly complete lens opacities by 5 months of age. In contrast, R49C mice in which the neor gene was deleted by breeding with CreEIIa mice developed lens abnormalities at birth, suggesting that the neor gene may suppress expression of mutant R49C αA-crystallin protein. Conclusion It is apparent that modification of membrane and cell-cell interactions occurs in the presence of the αA-crystallin mutation and rapidly leads to lens cell pathology in vivo.

  3. Pavlodar city children's some hereditary diseases

    International Nuclear Information System (INIS)

    Shajmardanova, B. Kh.; Gorbach, S.V.

    1997-01-01

    Territory of the Pavlodar region directly adjoining to the Semipalatinsk test site is unique object for study of many year tests consequences on population health. Health worsening caused by small doses of radiation on artificial pollution background is defined. Purpose of the work is Pavlodar city children's some hereditary diseases (Downs syndrome, crack of upper lip and/or palate, hemophilia) under study of frequency dynamic of statistical data within period from 1980 by 1995. It is defined: a) tendency to growth Downs syndrome frequency has been distinctly observed beginning of the 1982; b) it is noted Downs syndrome frequency growth stabilization within period from 1988 by 1991; c) among children with Downs syndrome is distinguished low viability; d) there is rather higher correlation rate of Downs syndrome and congenial heart threshold against average statistical index; e) character of frequencies changes of crack of upper lip and/or palate has tendency to growth; f) it is defined that boys predominate among children with this disease; g) congenial crack of soft palate have being revealed as solitary thresholds of development; h) genealogy analysis of hemophilia sick reveals, that it has only hereditary character. 8 refs

  4. Genetics of Hereditary Ataxia in Scottish Terriers.

    Science.gov (United States)

    Urkasemsin, G; Nielsen, D M; Singleton, A; Arepalli, S; Hernandez, D; Agler, C; Olby, N J

    2017-07-01

    Scottish Terriers have a high incidence of juvenile onset hereditary ataxia primarily affecting the Purkinje neuron of the cerebellar cortex and causing slowly progressive cerebellar dysfunction. To identify chromosomal regions associated with hereditary ataxia in Scottish Terriers. One hundred and fifty-three Scottish Terriers were recruited through the Scottish Terrier Club of America. Prospective study. Dogs were classified as affected if they had slowly progressive cerebellar signs. When possible, magnetic resonance imaging and histopathological evaluation of the brain were completed as diagnostic aids. To identify genomic regions connected with the disease, genome-wide mapping was performed using both linkage- and association-based approaches. Pedigree evaluation and homozygosity mapping were also performed to examine mode of inheritance and to investigate the region of interest, respectively. Linkage and genome-wide association studies in a cohort of Scottish Terriers both identified a region on CFA X strongly associated with the disease trait. Homozygosity mapping revealed a 4 Mb region of interest. Pedigree evaluation failed to identify the possible mode of inheritance due to the lack of complete litter information. This finding suggests that further genetic investigation of the potential region of interest on CFA X should be considered in order to identify the causal mutation as well as develop a genetic test to eliminate the disease from this breed. Copyright © 2017 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.

  5. Surgical treatment of hereditary lens subluxations.

    Science.gov (United States)

    Ozdek, Sengul; Sari, Ayca; Bilgihan, Kamil; Akata, Fikret; Hasanreisoglu, Berati

    2002-01-01

    To evaluate the effectiveness and results of pars plana vitreolensectomy approach with transscleral fixation of intraocular lens in hereditary lens subluxations. Fifteen eyes of 9 consecutive patients with a mean age of 12.8+/-6.2 years (6-26 years) with hereditary lens subluxation were operated on and the results were evaluated in a prospective study. Surgery was considered if best spectacle corrected visual acuity (BSCVA) was less than 20/70. All eyes underwent a 2-port pars plana vitreolensectomy and transscleral fixation of an intraocular lens (IOL). The mean follow-up period was 12.6+/-7.5 months (6-22 months). There was no major intraoperative complication. Preoperatively, 8 eyes (53.3%) had a BSCVA of counting fingers (CF) and 7 eyes (46.6%) had a BSCVA of 20/200 to 20/70. Postoperatively, 14 eyes (93.3%) had a BSCVA of 20/50 or better. None of the patients had IOL decentration or intraocular pressure (IOP) increase during the follow-up period. There was a macular hole formation in 1 eye postoperatively. The early results of pars plana vitreolensectomy with IOL implantation using scleral fixation technique had shown that it not only promises a rapid visual rehabilitation but it is also a relatively safe method. More serious complications, however, may occur in the long term.

  6. Recommendations regarding splenectomy in hereditary hemolytic anemias

    Science.gov (United States)

    Iolascon, Achille; Andolfo, Immacolata; Barcellini, Wilma; Corcione, Francesco; Garçon, Loïc; De Franceschi, Lucia; Pignata, Claudio; Graziadei, Giovanna; Pospisilova, Dagmar; Rees, David C.; de Montalembert, Mariane; Rivella, Stefano; Gambale, Antonella; Russo, Roberta; Ribeiro, Leticia; Vives-Corrons, Jules; Martinez, Patricia Aguilar; Kattamis, Antonis; Gulbis, Beatrice; Cappellini, Maria Domenica; Roberts, Irene; Tamary, Hannah

    2017-01-01

    Hereditary hemolytic anemias are a group of disorders with a variety of causes, including red cell membrane defects, red blood cell enzyme disorders, congenital dyserythropoietic anemias, thalassemia syndromes and hemoglobinopathies. As damaged red blood cells passing through the red pulp of the spleen are removed by splenic macrophages, splenectomy is one possible therapeutic approach to the management of severely affected patients. However, except for hereditary spherocytosis for which the effectiveness of splenectomy has been well documented, the efficacy of splenectomy in other anemias within this group has yet to be determined and there are concerns regarding short- and long-term infectious and thrombotic complications. In light of the priorities identified by the European Hematology Association Roadmap we generated specific recommendations for each disorder, except thalassemia syndromes for which there are other, recent guidelines. Our recommendations are intended to enable clinicians to achieve better informed decisions on disease management by splenectomy, on the type of splenectomy and the possible consequences. As no randomized clinical trials, case control or cohort studies regarding splenectomy in these disorders were found in the literature, recommendations for each disease were based on expert opinion and were subsequently critically revised and modified by the Splenectomy in Rare Anemias Study Group, which includes hematologists caring for both adults and children. PMID:28550188

  7. Molecular biology of hereditary diabetes insipidus.

    Science.gov (United States)

    Fujiwara, T Mary; Bichet, Daniel G

    2005-10-01

    The identification, characterization, and mutational analysis of three different genes-the arginine vasopressin gene (AVP), the arginine vasopressin receptor 2 gene (AVPR2), and the vasopressin-sensitive water channel gene (aquaporin 2 [AQP2])-provide the basis for understanding of three different hereditary forms of "pure" diabetes insipidus: Neurohypophyseal diabetes insipidus, X-linked nephrogenic diabetes insipidus (NDI), and non-X-linked NDI, respectively. It is clinically useful to distinguish two types of hereditary NDI: A "pure" type characterized by loss of water only and a complex type characterized by loss of water and ions. Patients who have congenital NDI and bear mutations in the AVPR2 or AQP2 genes have a "pure" NDI phenotype with loss of water but normal conservation of sodium, potassium, chloride, and calcium. Patients who bear inactivating mutations in genes (SLC12A1, KCNJ1, CLCNKB, CLCNKA and CLCNKB in combination, or BSND) that encode the membrane proteins of the thick ascending limb of the loop of Henle have a complex polyuro-polydipsic syndrome with loss of water, sodium, chloride, calcium, magnesium, and potassium. These advances provide diagnostic and clinical tools for physicians who care for these patients.

  8. INTRACORNEAL AND SCLERAL CYST FOLLOWING CATARACT EXTRACTION

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    Gabriel van Rij

    2002-12-01

    Full Text Available Background. A six-year-old boy presented with a large progressive intracorneal and scleral cyst. Two years before, bilateral cataract surgery through a 6.5-mm corneal incision was performed elsewhere.Methods. The posterior wall of the cyst could be excised, as well as the anterior wall in the sclera. Upon histo-pathology the cyst wall was lined by epithelium. The epithelial cells of the anterior side in the cornea were removed with a curette and a corpus alienum drill. Three and a half years after removal of the cyst, there was no recurrence. Visual acuity was 0.8. Conclusions. An intracorneal and scleral inclusion cyst was successfully removed by surgical excision and the removal of epithelial cells by a curette and a corpus alienum drill.

  9. Cataract in small animals: classification and treatment

    Directory of Open Access Journals (Sweden)

    Fahiano Montiani Ferreira

    1997-02-01

    Full Text Available Cataract means any opacity present in the lens, lens capsule or both. The opacities may vary in size, location, shape and rate of progression. By slit-lamp biomicroscopy it is possible to examine them with precision, determining its exact location and peculiarities, resulting in a safe, accurate diagnosis. Due to its variable origin and appearance, several methods of classification have been used. Classification by aetiology, grade of maturity, location and age of the patients are presented in this review. Surgical removal is the only effective therapy for this disease. Among the surgical techniques available to this day, endocapsular phacoemulsification excells for its better results, despite of its high cost, if compared to classical intra and extra capsular facectomies.

  10. The Tear Osmolarity Changes After Cataract Surgery

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    Banu Öncel

    2012-01-01

    Full Text Available Pur po se: To determine the tear osmolarity changes in patients who had undergone phacoemulsification surgery. Ma te ri al and Met hod: Tear osmolarity measurements were performed in 30 eyes of 30 patients who had undergone cataract surgery without any complication. Measurements were performed before surgery and consecutively at 1st month, 3rd month, and 6th month after the surgery. TearLab osmometer (TearLab Corporation, San Diego, CA, USA device was used for the measurements and paired ttest was used for statistical analysis. Re sults: The mean age of the patients was 72.3±3.7 (67-78 years. Thirteen patients were men and 17 patients were women. The mean osmolarity values were 305.8±6.5 mOsm/L before the surgery and 312.3±6.4 mOsm/L at 1st month, 307.5±5.1 mOsm/L at 3rd month and 305.1±5.7 at 6th month after the surgery. The difference between the values before surgery and at 1st month was found statistically significant (p=0.001. Dis cus si on: The tear osmolarity increases at the first month after surgery but decreases to the levels measured before surgery at the 3rd month. The increase at the first month may be due to the corneal incisions and medication used after the surgery. We think that we have to take into account this similarity increase in all cataract patients, especially in those who also have dry eye disease. (Turk J Ophthalmol 2012; 42: 35-7

  11. Treating Cataracts: Dr. Rachel Bishop's Top Tips for Your Eyes

    Science.gov (United States)

    ... please turn JavaScript on. Feature: Treating Cataracts Dr. Rachel Bishop's Top Tips for Your Eyes Past Issues / ... exams, a healthy lifestyle, and eye protection. Dr. Rachel Bishop, chief of consult services at the National ...

  12. Expert System Diagnosis of Cataract Eyes Using Fuzzy Mamdani Method

    Science.gov (United States)

    Santosa, I.; Romla, L.; Herawati, S.

    2018-01-01

    Cataracts are eye diseases characterized by cloudy or opacity of the lens of the eye by changing the colour of black into grey-white which slowly continues to grow and develop without feeling pain and pain that can cause blindness in human vision. Therefore, researchers make an expert system of cataract eye disease diagnosis by using Fuzzy Mamdani and how to care. The fuzzy method can convert the crisp value to linguistic value by fuzzification and includes in the rule. So this system produces an application program that can help the public in knowing cataract eye disease and how to care based on the symptoms suffered. From the results of the design implementation and testing of expert system applications to diagnose eye disease cataracts, it can be concluded that from a trial of 50 cases of data, obtained test results accuracy between system predictions with expert predictions obtained a value of 78% truth.

  13. Treating Cataracts | NIH MedlinePlus the Magazine

    Science.gov (United States)

    ... Claudine Klose, 63, lives on a farm in New York's Hudson Valley. She had successful cataract surgery in 2013 and shared her experience recently with NIH MedlinePlus magazine. What did you notice about your vision that ...

  14. Cataract surgery in a case of carotid cavernous fistula

    Science.gov (United States)

    Nair, Akshay Gopinathan; Praveen, Smita Vittal; Noronha, Veena Olma

    2014-01-01

    A carotid-cavernous fistula (CCF) is an abnormal communication between the cavernous sinus and the carotid arterial system. The ocular manifestations include conjunctival chemosis, proptosis, globe displacement, raised intraocular pressure and optic neuropathy. Although management of CCF in these patients is necessary, the ophthalmologist may also have to treat other ocular morbidities such as cataract. Cataract surgery in patients with CCF may be associated with many possible complications, including suprachoroidal hemorrhage. We describe cataract extraction surgery in 60-year-old female with bilateral spontaneous low-flow CCF. She underwent phacoemulsification via a clear corneal route under topical anesthesia and had an uneventful postoperative phase and recovered successfully. Given the various possible ocular changes in CCF, one must proceed with an intraocular surgery with caution. In this communication, we wish to describe the surgical precautions and the possible pitfalls in cataract surgery in patients with CCF. PMID:25370401

  15. EPHA2 polymorphisms and age-related cataract in India.

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    Periasamy Sundaresan

    Full Text Available We investigated whether previously reported single nucleotide polymorphisms (SNPs of EPHA2 in European studies are associated with cataract in India.We carried out a population-based genetic association study. We enumerated randomly sampled villages in two areas of north and south India to identify people aged 40 and over. Participants attended a clinical examination including lens photography and provided a blood sample for genotyping. Lens images were graded by the Lens Opacification Classification System (LOCS III. Cataract was defined as a LOCS III grade of nuclear ≥4, cortical ≥3, posterior sub-capsular (PSC ≥2, or dense opacities or aphakia/pseudophakia in either eye. We genotyped SNPs rs3754334, rs7543472 and rs11260867 on genomic DNA extracted from peripheral blood leukocytes using TaqMan assays in an ABI 7900 real-time PCR. We used logistic regression with robust standard errors to examine the association between cataract and the EPHA2 SNPs, adjusting for age, sex and location.7418 participants had data on at least one of the SNPs investigated. Genotype frequencies of controls were in Hardy-Weinberg Equilibrium (p>0.05. There was no association of rs3754334 with cataract or type of cataract. Minor allele homozygous genotypes of rs7543472 and rs11260867 compared to the major homozygote genotype were associated with cortical cataract, Odds ratio (OR = 1.8, 95% Confidence Interval (CI (1.1, 3.1 p = 0.03 and 2.9 (1.2, 7.1 p = 0.01 respectively, and with PSC cataract, OR = 1.5 (1.1, 2.2 p = 0.02 and 1.8 (0.9, 3.6 p = 0.07 respectively. There was no consistent association of SNPs with nuclear cataract or a combined variable of any type of cataract including operated cataract.Our results in the Indian population agree with previous studies of the association of EPHA2 variants with cortical cataracts. We report new findings for the association with PSC which is particularly prevalent in Indians.

  16. [Outcome of cataract surgery in patients with pigmentary retinal degeneration].

    Science.gov (United States)

    Grześk, Magdalena; Kałuzny, Józef; Malukiewicz-Wiśniewska, Grazyna

    2007-01-01

    To evaluate the results of cataract surgery in patients with RP because retinitis pigmentosa is one of the disease entities that belongs to tapeto-retinal degenerations. The occurrence of RP appearance is 1:4000 to 1:3000. Twenty patients with RP (7 women and 13 men, 33 eyes), who underwent cataract surgery were examined retrospectively. Average age in our group was 46.6 years. Visual acuity, intraocular pressure, slip lamp examination, fundus examination, cataract morphology, visual field were taken before surgery and on discharge, on the basis of medical documentation. Control examination was taken, on average, eighty one months after cataract surgery. Nine eyes were operated by phacoemulsification, 24 eyes by means of extracapsular cataract extraction. In the same way control group of 18 patients who underwent cataract surgery without RP (33 eyes) was examined. In RP group in 63.6% patients on discharge from the hospital and in 60.6% patients during the control examination, improvement of visual acuity was revealed. Deterioration was noted in 18.2% of patients on discharge from hospital and in 24.2% of patients during the control examination. In the control group improvement of visual acuity was revealed in 90.9% of patients on discharge and in 97% patients during the control examination, whereas deterioration of visual acuity occurred in 6.1% patients on discharge and in 3% patients during the check examination. In patients with retinitis pigmentosa cataract occurs earlier then in the control group. Cataract surgery for relatively minor opacities is beneficial in patients with RP, and causes improvement of visual acuity in most of eyes undergoing surgery.

  17. Role of lipid peroxidation in pathogenesis of senile cataract

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    Kisić Bojana

    2009-01-01

    Full Text Available Background /Aim. Cataract is a structural, biochemical and optical change in the eye lens, which changes transmission and refraction of light rays reducing keenness and clarity of a figure on the retina. Its occurrence is highest in older people, over the age of 65 (45.9%, thus a certain degree of opacification exists practically in all people over the 70. Our research was directed to measuring of lipid peroxidation products in cataract lenses involved in early stages of cataractogenesis through oxidative stress and in the development of mature cataract. Methods. Clinical and biochemical research was carried out in 101 patients with cataract, 46 women and 55 men. The average age of the group was 72.47 (ґ = 7.98. According to the cataract maturity degree the patients were classified into two groups as follows: cataracta senilis incipiens (n = 41 and cataracta senilis matura (n = 60. Measuring of diene conjugates was carried out by spectrophotometer. Fluorescent lipid peroxidation products were measured by a spectrofluorophotometer, and malondialdehyde (MDA concentration was measured by colorimeter as a product of a reaction with thiobarbituric acid (TBA. Result. Significantly higher diene conjugated concentration in lenses was measured in the patients with the diagnosis cataracta senilis incipiens (p < 0.001 as well as the intensity of fluorescent iminopropens (p < 0.001. Significantly higher MDA concentration in lens (p < 0.001 was measured in the patients with cataracta senilis matura. Conclusion. The lens structure changes caused by lipid peroxidation can, with other risk factors present, influence the occurrence and development of mature cataract. Some cataract types show different lipid peroxidation intensity with the most distinct changes in cataract which started as corticonuclear.

  18. [Sir Harold Ridley--the creator of modern cataract surgery].

    Science.gov (United States)

    Obuchowska, Iwona; Mariak, Zofia

    2005-01-01

    In February 2000, the worldwide ophthalmology community celebrated the 50th anniversary of one of the twentieth century's most important innovations in eye care--the implantation of the first intraocular lens after cataract extraction by Sir Harold Ridley. It was the initiation of a golden age for the development of ophthalmology, especially cataract surgery. In our paper we would like to remember this outstanding English ophthalmologist and his great invention.

  19. Biometry and clinical characteristics of congenital cataracts and microphthalmia in the Miniature Schnauzer.

    Science.gov (United States)

    Gelatt, K N; Samuelson, D A; Barrie, K P; Das, N D; Wolf, E D; Bauer, J E; Andresen, T L

    1983-07-01

    Forty-two Miniature Schnauzer pups and adults with congenital cataracts and microphthalmia were evaluated by serial ophthalmic examinations, slit lamp biomicroscopic photography, and A-scan ultrasonography. The cataracts were evident when the eyelids opened at 2 weeks, affecting predominantly the lens nucleus and posterior cortex. Lenticonus was evident in 19% of the cataractous lenses. Progression of the cataracts was variable and related to involvement of the equatorial and posterior cortices. Lens-induced uveitis developed in some adult dogs with advanced hypermature cataracts. The globe and lens were smaller than normal in the cataractous eyes, as ascertained by A-scan ultrasonography. Age-matched comparisons of clear lens carrier Miniature Schnauzers and normal Beagles with the cataractous Miniature Schnauzers indicated affected globes and cataractous lenses were reduced 10% to 20% in their anteroposterior lengths. The microphthalmia appeared related to the congenital microphakic cataract.

  20. Manual small incision extracapsular cataract surgery in Australia.

    Science.gov (United States)

    van Zyl, Lourens; Kahawita, Shyalle; Goggin, Michael

    2014-11-01

    Examination of the results and describing the technique of manual small incision extracapsular cataract extraction on patients with advanced cataracts in urban Australia. A descriptive case series. Thirty-eight patients at three public hospitals, one tertiary and two secondary ophthalmic units in urban Australia. Forty eyes with dense mature cataracts with hand movement vision or worse underwent a planned manual small incision extracapsular cataract extraction instead of traditional phaco-emulsification. Postoperative visual aquity, surgically induced astigmatism and complications. Seventy-eight per cent of patients had an uncorrected visual acuity of 6/12 or better on the first postoperative day. Eighty-three per cent of patients had a distance corrected visual acuity of 6/9 or better 3 months postoperatively. One case was complicated by a posterior capsule rupture. No cases of endophthalmitis were reported. The summated vector mean of the surgically induced astigmatism was 0.089D at 93°. Manual small incision extracapsular cataract extraction is an efficacious cataract surgery technique with good visual outcome and is a safe alternative to phaco-emulsification in suitable cases in a first-world setting. © 2014 Royal Australian and New Zealand College of Ophthalmologists.

  1. Benign prostatic hyperplasia: clinical treatment can complicate cataract surgery

    Directory of Open Access Journals (Sweden)

    Fernando Facio

    2010-10-01

    Full Text Available PURPOSE: To investigate the effects of alpha-1 adrenergic receptor antagonists for the treatment of benign prostatic hyperplasia (BPH regarding potential risks of complications in the setting of cataract surgery. AIM: To address recommendations, optimal control therapy, voiding symptoms and safety within the setting of cataract surgery. MATERIALS AND METHODS: A comprehensive literature review was performed using MEDLINE with MeSH terms and keywords "benign prostatic hyperplasia", "intraoperative floppy iris syndrome", "adrenergic alpha-antagonist" and "cataract surgery". In addition, reference lists from identified publications were reviewed to identify reports and studies of interest from 2001 to 2009. RESULTS: The first report of intraoperative floppy iris syndrome (IFIS was observed during cataract surgery in patients taking systemic alpha-1 AR antagonists in 2005. It has been most commonly seen related to use of tamsulosin. Changes of medication and washout periods of up to 2 weeks have been attempted to reduce the risk of complications in the setting of cataract surgery. CONCLUSION: Patients under clinical treatment for BPH should be informed about potential risks of this drug class so that it can be discuss with their healthcare providers, in particular urologist and ophthalmologist, prior to cataract surgery.

  2. Risk factors for cataract: A case control study

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    Ughade Suresh

    1998-01-01

    Full Text Available The present study was designed as a hospital-based, group-matched, case-control investigation into the risk factors associated with age-related cataract in central India. The study included 262 cases of age-related cataract and an equal number of controls. A total of 21 risk factors were evaluated: namely, low socioeconomic status (SES, illiteracy, marital status, history of diarrhoea, history of diabetes, glaucoma, use of cholinesterase inhibitors, steroids, spironolactone, nifedipine, analgesics, myopia early in life, renal failure, heavy smoking, heavy alcohol consumption, hypertension, low body mass index (BMI, use of cheaper cooking fuel, working in direct sunlight, family history of cataract, and occupational exposure. In univariate analysis, except marital status, low BMI, renal failure, use of steroids, spironolactone, analgesics, and occupational exposure, all 14 other risk factors were found significantly associated with age-related cataract. Unconditional multiple logistic regression analysis confirmed the significance of low SES, illiteracy, history of diarrhoea, diabetes, glaucoma, myopia, smoking, hypertension and cheap cooking fuel. The etiological role of these risk factors in the outcome of cataract is confirmed by the estimates of attributable risk proportion. The estimates of population attributable risk proportion for these factors highlight the impact of elimination of these risk factors on the reduction of cataract in this population.

  3. Brazilian guidelines for the diagnosis and treatment of hereditary angioedema

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    Pedro Giavina-Bianchi

    2011-01-01

    Full Text Available Hereditary angioedema is an autosomal dominant disease characterized by edema attacks with multiple organ involvement. It is caused by a quantitative or functional deficiency of the C1 inhibitor, which is a member of the serine protease inhibitor family. Hereditary angioedema is unknown to many health professionals and is therefore an underdiagnosed disease. The causes of death from hereditary angioedema include laryngeal edema with asphyxia. The estimated mortality rate in patients in whom the disease goes undetected and who are therefore incorrectly treated is 25-40%. In addition to edema of the glottis, hereditary angioedema often results in edema of the gastrointestinal tract, which can be incapacitating. Patients with hereditary angioedema may undergo unnecessary surgical interventions because the digestive tract can be the primary or only organ system involved, thus mimicking acute surgical abdomen. It is estimated that patients with hereditary angioedema experience some degree of disability 20-100 days per year. The Experts in Clinical Immunology and Allergy of the "Associação Brasileira de Alergia e Imunopatologia -ASBAI" developed these guidelines for the diagnosis, therapy, and management of hereditary angioedema.

  4. Brazilian guidelines for the diagnosis and treatment of hereditary angioedema.

    Science.gov (United States)

    Giavina-Bianchi, Pedro; França, Alfeu T; Grumach, Anete S; Motta, Abílio A; Fernandes, Fátima R; Campos, Regis A; Valle, Solange O; Rosário, Nelson A; Sole, Dirceu

    2011-01-01

    Hereditary angioedema is an autosomal dominant disease characterized by edema attacks with multiple organ involvement. It is caused by a quantitative or functional deficiency of the C1 inhibitor, which is a member of the serine protease inhibitor family. Hereditary angioedema is unknown to many health professionals and is therefore an underdiagnosed disease. The causes of death from hereditary angioedema include laryngeal edema with asphyxia. The estimated mortality rate in patients in whom the disease goes undetected and who are therefore incorrectly treated is 25-40%. In addition to edema of the glottis, hereditary angioedema often results in edema of the gastrointestinal tract, which can be incapacitating. Patients with hereditary angioedema may undergo unnecessary surgical interventions because the digestive tract can be the primary or only organ system involved, thus mimicking acute surgical abdomen. It is estimated that patients with hereditary angioedema experience some degree of disability 20-100 days per year. The Experts in Clinical Immunology and Allergy of the "Associação Brasileira de Alergia e Imunopatologia -ASBAI" developed these guidelines for the diagnosis, therapy, and management of hereditary angioedema.

  5. Dementia in hereditary cystatin C amyloidosis

    DEFF Research Database (Denmark)

    Blöndal, H; Guomundsson, G; Benedikz, Eirikur

    1989-01-01

    in seventeen cases of whom two presented with dementia. At the last examination the majority had severe dementia and severely abnormal EEG. Anti-cystatin C positive amyloid vascular and perivascular infiltrates were found. The resulting damage to the microvasculature of the brain and secondary hemorrhages......Nineteen cases with verified Hereditary Cystatin C Amyloid Angiopathy are presented. All of the cases had one or more cerebrovascular insults starting at the age of 20-41 years and survived from 10 days to 23 years after the first insult. Progressive dementia was a prominent clinical feature...... and infarctions were considered to be an adequate explanation for the dementia in these cases. Skin biopsies can now probably be used to demonstrate cystatin C positive amyloid deposits conclusively in the tissues of these patients....

  6. Leber's Hereditary Optic Neuropathy: A Case Report

    Directory of Open Access Journals (Sweden)

    Chi-Wu Chang

    2003-10-01

    Full Text Available Leber's hereditary optic neuropathy (LHON is a maternally inherited mitochondrial disease that primarily affects the optic nerve, causing bilateral vision loss in juveniles and young adults. A 12-year-old boy had complained of blurred vision in both eyes for more than 1 year. His best-corrected visual acuity was 0.08 in the right eye and 0.1 in the left. Ophthalmologic examination showed bilateral optic disc hyperemia and margin blurring, peripapillary telangiectasis, and a relative afferent pupil defect in his right eye. Fluorescein angiography showed no stain or leakage around the optic disc in the late phase. Visual field analysis showed central scotoma in the left eye and a near-total defect in the right. Upon examination of the patient's mitochondrial DNA, a point mutation at nucleotide position 11778 was found, and the diagnosis of LHON was confirmed. Coenzyme Q10 was used to treat the patient.

  7. Mania associated with complicated hereditary spastic paraparesis

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    Raghavendra B Nayak

    2011-01-01

    Full Text Available Hereditary spastic paraparesis (HSP is an inherited group of neurological disorders with progressive lower limb spasticity. HSP can be clinically grouped into pure and complicated forms. Pure HSP is one without any associated neurological/psychiatric comorbidity. Depression is the most common psychiatric comorbidity. Presence of mania or bipolar affective illness with HSP is a rare phenomenon. We report a case of a 17-year-old boy who presented with classical features of HSP with complaints of excessive happiness, irritability, increased self-esteem and decreased sleep since 1 month. The patient also had complex partial seizure ever since he had features of HSP. The patient′s father and younger sister suffer from pure HSP. The patient was diagnosed to have first episode mania with complicated HSP. The details of treatment and possible neurobiology are discussed in this case report.

  8. Mania associated with complicated hereditary spastic paraparesis.

    Science.gov (United States)

    Nayak, Raghavendra B; Bhogale, Govind S; Patil, Nanasaheb M; Pandurangi, Aditya A

    2011-07-01

    Hereditary spastic paraparesis (HSP) is an inherited group of neurological disorders with progressive lower limb spasticity. HSP can be clinically grouped into pure and complicated forms. Pure HSP is one without any associated neurological/psychiatric comorbidity. Depression is the most common psychiatric comorbidity. Presence of mania or bipolar affective illness with HSP is a rare phenomenon. We report a case of a 17-year-old boy who presented with classical features of HSP with complaints of excessive happiness, irritability, increased self-esteem and decreased sleep since 1 month. The patient also had complex partial seizure ever since he had features of HSP. The patient's father and younger sister suffer from pure HSP. The patient was diagnosed to have first episode mania with complicated HSP. The details of treatment and possible neurobiology are discussed in this case report.

  9. Recurrent IVF failure and hereditary thrombophilia.

    Science.gov (United States)

    Safdarian, Leila; Najmi, Zahra; Aleyasin, Ashraf; Aghahosseini, Marzieh; Rashidi, Mandana; Asadollah, Sara

    2014-07-01

    The largest percentage of failed invitro fertilization (IVF (cycles, are due to lack of implantation. As hereditary thrombophilia can cause in placentation failure, it may have a role in recurrent IVF failure. Aim of this case-control study was to determine whether hereditary thrombophilia is more prevalent in women with recurrent IVF failures. Case group comprised 96 infertile women, with a history of recurrent IVF failure. Control group was comprised of 95 healthy women with proven fertility who had conceived spontaneously. All participants were assessed for the presence of inherited thrombophilias including: factor V Leiden, methilen tetrahydrofolate reductase (MTHFR) mutation, prothrombin mutation, homocystein level, protein S and C deficiency, antithrombin III (AT-III) deficiency and plasminogen activator inhibitor-1 (PAI-1) mutation. Presence of thrombophilia was compared between groups. Having at least one thrombophilia known as a risk factor for recurrent IVF failure (95% CI=1.74-5.70, OR=3.15, p=0.00). Mutation of factor V Leiden (95% CI=1.26-10.27, OR=3.06, P=0.01) and homozygote form of MTHFR mutation (95% CI=1.55-97.86, OR=12.33, p=0.05) were also risk factors for recurrent IVF failure. However, we could not find significant difference in other inherited thrombophilia's. Inherited thrombophilia is more prevalent in women with recurrent IVF failure compared with healthy women. Having at least one thrombophilia, mutation of factor V Leiden and homozygote form of MTHFR mutation were risk factors for recurrent IVF failure.

  10. Chaperonopathies: spotlight on hereditary motor neuropathies

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    Vincenzo Lupo

    2016-12-01

    Full Text Available Distal hereditary motor neuropathies (dHMN comprise a group of rare hereditary neuromuscular disorders characterized by a peroneal muscular atrophy without sensory symptoms. To date twenty-three genes for dHMN have been reported and four of them encode for chaperones: DNAJB2, which encodes a member of the HSP40/DNAJ co-chaperone family, and HSPB1, HSPB3 and HSPB8, which encode three members of the family of small heat shock proteins. Except for HSPB1, with around thirty different mutations, the remaining three genes comprise a much low number of cases. Thus, only one case has been described caused by an HSPB3 mutation, whereas few DNAJB2 and HSPB8 cases are known, most of them caused by a founder c.352+1G>A mutation in DNAJB2 and by mutations affecting the hot spot K141 residue of the HSPB8 chaperone. This low number of cases makes it difficult to understand the pathomechanism underlying the neuropathy. Chaperones can assemble in multi-chaperone complexes forming an integrative chaperone network in the cell, which plays relevant cellular roles in a variety of processes such as the correct folding of newly synthesized proteins, their escort to their precise cellular locations to form functional proteins and complexes and the response to protein misfolding, including the degradation of proteins that fail to refold properly. Despite of this variety of functions, mutations in some of them lead to diseases with a similar clinical picture, suggesting common pathways. This review gives an overview of the genetics of dHMNs caused by mutations in four genes, DNAJB2, HSPB1, HSPB3 and HSPB8, which encode chaperones and show a common disease mechanism.

  11. Gender specific issues in hereditary ocular disorders.

    Science.gov (United States)

    Iragavarapu, Saradha; Gorin, Michael B

    2015-02-01

    This review is intended to summarize the current knowledge from basic science and clinical medical literature cited within PubMed that pertain to gender-related factors and affect those individuals with hereditary ocular disorders. We consider gender-related biological factors that (a) affect disease onset and progression, (b) gender differences for major X-linked ocular disorders, (c) gender-specific conditions, (d) medications that may influence genetic eye disorders, and finally, (e) gender-related issues that influence the management and quality of life of these patients. Several studies have demonstrated the manner in which sex-related hormones in animal models are capable of influencing cell pathway and survival that are likely to affect hereditary eye disorders. There are very few clinical studies that provide compelling evidence for gender differences in human ocular conditions, other than for a number of X-linked disorders. Disease expression for X-linked disorders may be impacted by genetic mechanisms such as lyonization or uniparental disomy. Clinical evidence regarding the impact of gender-related medical conditions and therapies on eye conditions is extremely limited and primarily based on anecdotal evidence. Gender-specific factors may play a major role in the underlying biological pathways that influence the onset, rate of progression, and clinical findings associated with ocular genetic conditions. Clinicians need to be aware of the variable phenotypes observed in female carriers of X-linked disorders of gender specific issues, many of which are inadequately addressed in the current literature. Clinicians need to be sensitive to gender differences in social, cultural, and religious systems and they should also be aware of how their own gender biases may influence how they counsel patients. Finally, it is clear that the lack of effective clinical studies in this area creates an opportunity for future research that will have real benefits for these

  12. Overview of the current attempts toward the medical treatment of cataract

    Energy Technology Data Exchange (ETDEWEB)

    Kador, P.F.

    1983-04-01

    A variety of agents are currently available that claim to either prevent, delay, or reverse cataracts associated with aging (senile cataracts), radiation, or diabetes and galactosemia (sugar cataracts). Senile cataract therapy includes formulation containing inorganic salts, nutritional supplements, natural product extracts, sulfhydryl, and sulfonic acid containing compounds and miscellaneous redox and nonsteroidal anti-inflammatory compounds. Agents associated with the treatment of radiation cataracts include antioxidants and free radial scavengers. Aldose reductase inhibitors have been effective in the prevention of sugar cataracts. A summary of these agents and their potential ocular effects are presented.

  13. Overview of the current attempts toward the medical treatment of cataract

    International Nuclear Information System (INIS)

    Kador, P.F.

    1983-01-01

    A variety of agents are currently available that claim to either prevent, delay, or reverse cataracts associated with aging (senile cataracts), radiation, or diabetes and galactosemia (sugar cataracts). Senile cataract therapy includes formulation containing inorganic salts, nutritional supplements, natural product extracts, sulfhydryl, and sulfonic acid containing compounds and miscellaneous redox and nonsteroidal anti-inflammatory compounds. Agents associated with the treatment of radiation cataracts include antioxidants and free radial scavengers. Aldose reductase inhibitors have been effective in the prevention of sugar cataracts. A summary of these agents and their potential ocular effects are presented

  14. Cataract Surgery with Foldable Single Piece IOLs in Congenital Cataract-Microcornea Syndrome

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    Niphon Chirapapaisan, M.D.

    2017-11-01

    Full Text Available Objective: To present the visual outcomes and intraocular lens (IOLs stability after cataract surgery with foldable single piece IOLs in a patient with congenital cataract-microcornea syndrome (CCMC. Case presentation: A 28-year-old woman presented with bilateral microcornea and posterior polar cataract. Her uncorrected (UDVA and corrected (CDVA distance visual acuities were 20/100, 20/160 and 20/80, 20/80, respectively. The horizontal cornea diameter was 9.0 mm in both eyes. Anterior chamber angle assessment (ACAA with Scheie classification showed grade 3 on the superior, inferior, and temporal site and grade 2 on the nasal site in both eyes. On ultrasound biomicroscopy (UBM, the anterior chamber depths were 2.35 mm. OD and 2.41 mm. OS. The axial lengths were 23.28 mm., OD and 22.50 mm. OS with the A-scan ultrasound biometry. The IOLs power calculation with SRK/T formulas was +25.00 diopter OD and +22.50 diopter OS (A-constant 118.4. Phacoemulsification was performed on both eyes. After lens aspiration, ruptured posterior capsule, a common complication occurred. Then anterior vitrectomy was performed. A foldable single piece IOLs without haptic trimming was implanted in the sulcus in each eye. CDVA was 20/63 equally in both eyes. The intraocular pressure was 12 and 14 mmHg. ACAA showed grade 2 and no pigment dispersion. The IOLs had no tilt or decentration. UBM showed the IOLs were in the proper position and were not rubbing the iris. Conclusion: The foldable single piece IOLs without haptic trimming in the sulcus were safely implanted in both eyes with microcornea in CCMC.

  15. Clinical evaluation on the coaxial microincision cataract surgery in hard nuclear cataracts

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    Qing-Cheng Shi

    2013-05-01

    Full Text Available AIM: To assess and compare the results of 2.2mm microincision coaxial cataract surgery(MCCSphacoemulsification with the conventional 3.0mm MCCS in hard nuclear cataracts. METHODS: Totally 132 eyes with hard cataract(Ⅳ level and abovewere randomized to two groups: 2.2mm MCCS(group 1:60 eyesand 3.0mm MCCS(group 2:72 eyes. All patients underwent standard phacoemulsification and intraocular lens implantation surgery by one experienced surgeon. The average ultrasound power(AVEwas recorded during the operation. The incidences of capsule rupture and postoperative corneal edema were compared.Visual acuity, surgically induced astigmatism(SIAand the descent rate of endothelial cell density were compared at intervals of 1 day, 1 month and 3 months after surgery. Statistic analysis was taken by Student's t test and Chi square test. RESULTS: There was no significant difference on the incidences of capsule rupture, postoperative corneal edema and AVE(P> 0.05between the two groups(3.3%, 10.0%, 65.09±20.15and(4.2%, 11.1%, 69.13±15.44. One day after the surgery, the 2.2mm MCCS group showed better uncorrected visual acuity as compared to the 3.0mm MCCS group(P < 0.05. There were no significant differences on best-corrected visual acuity on 1 month and 3 months after the surgery. There was no significant difference on the descent rate of endothelial cell density(16.54%±10.20%, 17.69%±10.65%3 months after the surgery. One day, 1 month and 3 months after the surgery, SIA was 0.77±0.31,0.66±0.29, 0.52±0.25D in the 2.2mm MCCS group, and 1.41±0.73,0.98±0.61D,0.82±0.35D in the 3.0mm MCCS group, respectively. The differences were statistically significant. CONCLUSION: The operative safety of the 2.2mm MCCS group were the same as 3.0mm MCCS group with the hard nuclear cataracts. The 2.2mm MCCS phacoemulsification could significantly reduce SIA and get better earlier visual rehabilitation.

  16. The anti-cataract molecular mechanism study in selenium cataract rats for baicalin ophthalmic nanoparticles

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    Li N

    2018-05-01

    Full Text Available Nan Li,1–3,* Zhenzhen Han,1,2,4,* Lin Li,1,2 Bing Zhang,1–3 Zhidong Liu,1–3 Jiawei Li1,2 1Tianjin State Key Laboratory of Modern Chinese Medicine, Tianjin University of Traditional Chinese Medicine, Tianjin, People’s Republic of China; 2Institute of Traditional Chinese Medicine,Tianjin University of Traditional Chinese Medicine, Tianjin, People’s Republic of China; 3Engineering Research Center of Modern Chinese Medicine Discovery and Preparation Technique, Ministry of Education, Tianjin University of Traditional Chinese Medicine, Tianjin, People’s Republic of China; 4Baokang Hospital, Tianjin University of Traditional Chinese Medicine, Tianjin, People’s Republic of China *These authors contributed equally to this work Purpose: The objective of this study was to investigate the effects of the solid lipid nanoparticles of baicalin (BA-SLNs on an experimental cataract model and explore the molecular mechanism combined with bioinformatics analysis.Materials and methods: The transparency of lens was observed daily by slit-lamp and photography. Lenticular opacity was graded. Two-dimensional gel electrophoresis (2-DE was employed to analyze the differential protein expression modes in each group. Proteins of interest were subjected to protein identification by nano-liquid chromatography tandem mass spectrometry (LC–MS/MS. Bioinformatics analysis was performed using the Ingenuity Pathway Analysis (IPA online software to comprehend the biological implications of the proteins identified by proteomics.Results: At the end of the sodium selenite-induced cataract progression, almost all lenses from the model group developed partial nuclear opacity; however, all lenses were clear and normal in the blank group. There was no significant difference between the BA-SLNs group and the blank group. Many protein spots were differently expressed in 2-DE patterns of total proteins of lenses from each group, and 65 highly different protein spots were

  17. Visual field changes after cataract extraction: the AGIS experience.

    Science.gov (United States)

    Koucheki, Behrooz; Nouri-Mahdavi, Kouros; Patel, Gitane; Gaasterland, Douglas; Caprioli, Joseph

    2004-12-01

    To test the hypothesis that cataract extraction in glaucomatous eyes improves overall sensitivity of visual function without affecting the size or depth of glaucomatous scotomas. Experimental study with no control group. One hundred fifty-eight eyes (of 140 patients) from the Advanced Glaucoma Intervention Study with at least two reliable visual fields within a year both before and after cataract surgery were included. Average mean deviation (MD), pattern standard deviation (PSD), and corrected pattern standard deviation (CPSD) were compared before and after cataract extraction. To evaluate changes in scotoma size, the number of abnormal points (P < .05) on the pattern deviation plot was compared before and after surgery. We described an index ("scotoma depth index") to investigate changes of scotoma depth after surgery. Mean values for MD, PSD, and CPSD were -13.2, 6.4, and 5.9 dB before and -11.9, 6.8, and 6.2 dB after cataract surgery (P < or = .001 for all comparisons). Mean (+/- SD) number of abnormal points on pattern deviation plot was 26.7 +/- 9.4 and 27.5 +/- 9.0 before and after cataract surgery, respectively (P = .02). Scotoma depth index did not change after cataract extraction (-19.3 vs -19.2 dB, P = .90). Cataract extraction caused generalized improvement of the visual field, which was most marked in eyes with less advanced glaucomatous damage. Although the enlargement of scotomas was statistically significant, it was not clinically meaningful. No improvement of sensitivity was observed in the deepest part of the scotomas.

  18. Squamous cell carcinoma complicating an hereditary epidermo-lysis bullosa

    International Nuclear Information System (INIS)

    Mseddi, M.; Turki, H.; Marrekchi, S.; Abdelmaksoud, W.; Masmoudi, A.; Bouassida, S.; Zahaf, A.

    2004-01-01

    The dystrophic form of hereditary epidermo-lysis bullosa is associated with an increased frequency of squamous cell carcinoma. We report a new case. An 18-year-old patient, carrying a Hallopeau Siemens hereditary epidermo-lysis bullosa, presented a subcutaneous nodular lesion, for 1 year that ulcerated and budded with inguinal lymphadenopathy. The histological study ted to the conclusion of a well differentiated squamous cell carcinoma. The patient was treated surgically. Tumor and metastatic lymph nodes were excised. A radiotherapy was decided but the postoperative course was fatal due to an infection and to a deterioration of her general condition. Squamous cell carcinoma frequently occurs on the cicatricial lesion of hereditary epidermo-lysis bullosa and usually affects males with recessive hereditary epidermo-lysis bullosa. Metastases are frequent, precocious and multiple. The treatment may be surgical. The particularities of our observation are the young age of patient and the localization. (author)

  19. Hereditary Lymphedema of the Leg – A Case Report

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    Birgit Heinig

    2017-07-01

    Full Text Available Primary of hereditary lymphedema is a rare but progressive disease. It is yet not curable. We present a 48-year-old male patient with hereditary lymphedema of his left leg, that was realised by minor trauma (able twist when he was seven years old. He had never been treated for lymphedema but experienced multiple erysipelas during his life. After diagnostic procedures to exclude other causes of leg swelling, the diagnosis of hereditary lymphedema of the leg, stage III was confirmed. We initialized complex decongestive therapy. During two weeks of intensive treatment, the circumference of the left leg could be reduced by 10 cm. This case illustrates the "natural course" hereditary lymphedema. But it raises the hope that even after decades of ignorance, the patients benefits from complex decongestive treatment. Therapeutic nihilism is unnecessary and poses lymphedema patients to risks of infection and secondary malignancies like Stewart-Trewes syndrome.

  20. New forms of -compactness with respect to hereditary classes

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    Abdo Mohammed Qahis

    2019-01-01

    Full Text Available A hereditary class on a set X is a nonempty collection of subsets closed under heredity. The aim of this paper is to introduce and study strong forms of u-compactness in generalized topological spaces with respect to a hereditary class, called  SuH-compactness and S- SuH-compactness. Also several of their properties are presented. Finally some eects of various kinds of functions on them are studied.

  1. Evidence-based management of epistaxis in hereditary haemorrhagic telangiectasia.

    Science.gov (United States)

    Syed, I; Sunkaraneni, V S

    2015-05-01

    There are currently no guidelines in the UK for the specific management of hereditary haemorrhagic telangiectasia related epistaxis. The authors aimed to review the literature and provide an algorithm for the management of hereditary haemorrhagic telangiectasia related epistaxis. The Medline and Embase databases were interrogated on 15 November 2013 using the search items 'hereditary haemorrhagic telangiectasia' (title), 'epistaxis' (title) and 'treatment' (title and abstract), and limiting the search to articles published in English. A total of 46 publications were identified, comprising 1 systematic review, 2 randomised, controlled trials, 27 case series, 9 case reports, 4 questionnaire studies and 3 in vitro studies. There is a lack of high-level evidence for the use of many of the available treatments for the specific management of epistaxis in hereditary haemorrhagic telangiectasia. Current management should be based on a multidisciplinary team approach involving both a hereditary haemorrhagic telangiectasia physician and an ENT surgeon, especially when systemic therapy is being considered. The suggested treatment algorithm considers that the severity of epistaxis merits intervention at different levels of the treatment ladder. The patient should be assessed using a reproducible validated assessment tool, for example an epistaxis severity score, to guide treatment. More research is required, particularly in the investigation of topical agents targeting the development and fragility of telangiectasiae in hereditary haemorrhagic telangiectasia.

  2. Long term outcomes of bilateral congenital and developmental cataracts operated in Maharashtra, India. Miraj pediatric cataract study III

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    Parikshit M Gogate

    2014-01-01

    Full Text Available Aim : To study long term outcome of bilateral congenital and developmental cataract surgery. Subjects: 258 pediatric cataract operated eyes of 129 children. Materials and Methods: Children who underwent pediatric cataract surgery in 2004-8 were traced and examined prospectively in 2010-11. Demographic and clinical factors were noted from retrospective chart readings. All children underwent visual acuity estimation and comprehensive ocular examination in a standardized manner. L. V. Prasad Child Vision Function scores (LVP-CVF were noted for before and after surgery. Statistics: Statistical analysis was done with SPSS version 16 including multi-variate analysis. Results: Children aged 9.1 years (std dev 4.6, range 7 weeks-15 years at the time of surgery. 74/129 (57.4% were boys. The average duration of follow-up was 4.4 years (stddev 1.6, range 3-8 years. 177 (68.6% eyes had vision 6/18 and 157 (60.9% had BCVA >6/60 3-8 years after surgery. 48 (37.2% had binocular stereoacuity <480 sec of arc by TNO test. Visual outcome depended on type of cataract (P = 0.004, type of cataract surgery (P < 0.001, type of intra-ocular lens (P = 0.05, age at surgery (P = 0.004, absence of post-operative uveitis (P = 0.01 and pre-operative vision (P < 0.001, but did not depend on delay (0.612 between diagnosis and surgery. There was a statistically significant improvement for all the 20 questions of the LVP-CVF scale (P < 0.001. Conclusion : Pediatric cataract surgery improved the children′s visual acuity, stereo acuity and vision function. Developmental cataract, use of phacoemulsification, older children and those with better pre-operative vision had betterlong-termoutcomes.

  3. Hereditary neuropathies: systematization and diagnostics (clinical case of hereditary motor and sensor neuropathy of the IA type

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    Kolokolova A.M.

    2016-09-01

    Full Text Available Aim: to study the value of routine methods (clinical symptoms, electrophysiological findings and results of DNA analysis in diagnostics of hereditary motor sensory neuropathy type IA in outpatient clinics. Material and Methods. The review of foreign literature is represented. The phenotypic polymorphism, genetic heterogeneity and the difficulties of diagnostics are identified. A family with hereditary motor sensory neuropathy of lAtype is presented, which was diagnosed on the base of available methods in outpatient practice (clinical symptoms, genealogical method, electro-physiological findings and DNA analysis results. Results. Routine algorithm (consistent valuation of clinical symptoms, neurophysiologic findings and the results of DNA analysis helped to verify the diagnosis of hereditary motor sensory neuropathy of lAtype in outpatient practice after more than 20 years of the onset of the disease. Conclusion. The neurologists of outpatient clinics and other specialists must be informed about the availability of diagnostics of hereditary diseases of nervous system.

  4. Complications of cataract surgery in eyes filled with silicone oil.

    Science.gov (United States)

    Kanclerz, Piotr; Grzybowski, Andrzej; Schwartz, Stephen G; Lipowski, Paweł

    2018-03-01

    The aim of the study was to evaluate complications of cataract surgery in eyes filled with silicone oil. This retrospective, noncomparative, consecutive case series analyzed medical files of patients with eyes filled with silicone oil undergoing cataract surgery. Phacoemulsification with posterior chamber intraocular lens implantation was conducted with or without concurrent silicone oil removal. In this study, 121 eyes of 120 patients were included. In 32 eyes (26.4%) with evident silicone oil microemulsification or silicone oil-associated open-angle glaucoma, silicone oil was removed prior to phacoemulsification through a pars plana incision and no cases of posterior capsular rupture occurred during the subsequent cataract surgery. In the remaining 89 eyes, phacoemulsification was performed with silicone oil in the vitreous cavity. In these eyes, the rate of posterior capsular rupture was 9/89 (10.1%) and the rate of silicone oil migration into the anterior chamber through an apparently intact posterior capsule was 5/89 (5.6%). In 94 eyes (77.7%), an intraocular lens was inserted into the capsular bag, in 3 eyes (2.5%) into the sulcus, and in 1 eye (0.8%) a transscleral suturing was performed. In this series, complications related to the silicone oil were not uncommon during cataract surgery. In the majority of patients without evident silicone oil microemulsification or silicone oil-associated open-angle glaucoma, cataract surgery and posterior chamber intraocular lens implantation were performed while leaving the silicone oil in place.

  5. Cataract surgery audit at an Australian urban teaching hospital.

    Science.gov (United States)

    Kahawita, Shyalle K; Goggin, Michael

    2015-08-01

    To provide local data on visual acuity and surgical outcomes for cataract surgery performed in an Australian teaching hospital. Continuous audit over 7 years in a public teaching hospital. A total of 3740 eyes had cataract surgery performed at The Queen Elizabeth Hospital, South Australia, from May 2006 to September 2013. Visual acuity and complication rates were recorded for cataract surgery cases operated on between May 2006 and September 2013 on a digital database with data entry contemporaneous with final follow-up. Visual acuity and surgical complications. Of the patients, 91.4% achieved postoperative best-measured vision better than preoperative best-measured vision. The rate of posterior capsular tear was 2.59%, endophthalmitis was 0.11% and the overall complication rate was 11.7%. This audit is the first to document modern cataract surgery, overwhelmingly dominated by phacoemulsification in an Australian population and can be used to benchmark cataract surgery outcome in an urban Australian population. © 2015 Royal Australian and New Zealand College of Ophthalmologists.

  6. Use of the Delphi process in paediatric cataract management.

    Science.gov (United States)

    Serafino, Massimiliano; Trivedi, Rupal H; Levin, Alex V; Wilson, M Edward; Nucci, Paolo; Lambert, Scott R; Nischal, Ken K; Plager, David A; Bremond-Gignac, Dominique; Kekunnaya, Ramesh; Nishina, Sachiko; Tehrani, Nasrin N; Ventura, Marcelo C

    2016-05-01

    To identify areas of consensus and disagreement in the management of paediatric cataract using a modified Delphi approach among individuals recognised for publishing in this field. A modified Delphi method. International paediatric cataract experts with a publishing record in paediatric cataract management. The process consisted of three rounds of anonymous electronic questionnaires followed by a face-to-face meeting, followed by a fourth anonymous electronic questionnaire. The executive committee created questions to be used for the electronic questionnaires. Questions were designed to have unit-based, multiple choice or true-false answers. The questionnaire included issues related to the preoperative, intraoperative and postoperative management of paediatric cataract. Consensus based on 85% of panellists being in agreement for electronic questionnaires or 80% for the face-to-face meeting, and near consensus based on 70%. Sixteen of 22 invited paediatric cataract surgeons agreed to participate. We arrived at consensus or near consensus for 85/108 (78.7%) questions and non-consensus for the remaining 23 (21.3%) questions. Those questions where consensus was not reached highlight areas of either poor evidence or contradicting evidence, and may help investigators identify possible research questions. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  7. Impact of cataract surgery in reducing visual impairment: a review.

    Science.gov (United States)

    Khandekar, Rajiv; Sudhan, Anand; Jain, B K; Deshpande, Madan; Dole, Kuldeep; Shah, Mahul; Shah, Shreya

    2015-01-01

    The aim was to assess the impact of cataract surgeries in reducing visual disabilities and factors influencing it at three institutes of India. A retrospective chart review was performed in 2013. Data of 4 years were collected on gender, age, residence, presenting a vision in each eye, eye that underwent surgery, type of surgery and the amount the patient paid out of pocket for surgery. Visual impairment was categorized as; absolute blindness (no perception of light); blind (visual impairment (SVI) (visual impairment (6/18-6/60) and; normal vision (≥6/12). Statistically analysis was performed to evaluate the association between visual disabilities and demographics or other possible barriers. The trend of visual impairment over time was also evaluated. We compared the data of 2011 to data available about cataract cases from institutions between 2002 and 2009. There were 108,238 cataract cases (50.6% were female) that underwent cataract surgery at the three institutions. In 2011, 71,615 (66.2%) cases underwent surgery. There were 45,336 (41.9%) with presenting vision visual disability. The goal of improving vision related quality of life for cataract patients during the early stages of visual impairment that is common in industrialized countries seems to be non-attainable in the rural India.

  8. Nanotechnology for the Prevention and Treatment of Cataract.

    Science.gov (United States)

    Cetinel, Sibel; Montemagno, Carlo

    2015-01-01

    The purpose of this article was to review recent advances in the applications of nanotechnology in cataract treatment and prevention strategies. A literature review on the use of nanotechnology for the prevention and treatment of cataract was done. Research articles about nanotechnology-based treatments and prevention technologies for cataract were searched on Web of Science, and the most recent advances were reported. Nonsteroid anti-inflammatory drugs, natural antioxidants, biologic and chemical chaperones, and chaperones such as molecules have found great application in preventing and treating cataracts. Current scientific research on new treatment strategies, which focuses on the biochemical basis of the disease, will likely result in new anticataract agents. However, none of the drug formulations will be approved for use unless efficient delivery is promised. Nanoparticle engineering together with biomimetic strategies enable the development of next-generation, more efficient, less complex, and personalized treatments. The only currently available treatment for cataracts, surgical replacement of the opacified lens, is not an easily accessible option in developing countries. New treatment strategies based on topical drugs would enable treatment to reach massive populations facing the threat of blindness and more effectively deal with the postsurgical complications. Nanotechnology plays a key role in improving drug delivery systems with enhanced controlled release, targeted delivery, and bioavailability to overcome diffusion limitations in the eye.

  9. Immediately sequential bilateral cataract surgery: advantages and disadvantages.

    Science.gov (United States)

    Singh, Ranjodh; Dohlman, Thomas H; Sun, Grace

    2017-01-01

    The number of cataract surgeries performed globally will continue to rise to meet the needs of an aging population. This increased demand will require healthcare systems and providers to find new surgical efficiencies while maintaining excellent surgical outcomes. Immediately sequential bilateral cataract surgery (ISBCS) has been proposed as a solution and is increasingly being performed worldwide. The purpose of this review is to discuss the advantages and disadvantages of ISBCS. When appropriate patient selection occurs and guidelines are followed, ISBCS is comparable with delayed sequential bilateral cataract surgery in long-term patient satisfaction, visual acuity and complication rates. In addition, the risk of bilateral postoperative endophthalmitis and concerns of poorer refractive outcomes have not been supported by the literature. ISBCS is cost-effective for the patient, healthcare payors and society, but current reimbursement models in many countries create significant financial barriers for facilities and surgeons. As demand for cataract surgery rises worldwide, ISBCS will become increasingly important as an alternative to delayed sequential bilateral cataract surgery. Advantages include potentially decreased wait times for surgery, patient convenience and cost savings for healthcare payors. Although they are comparable in visual acuity and complication rates, hurdles that prevent wide adoption include liability concerns as ISBCS is not an established standard of care, economic constraints for facilities and surgeons and inability to fine-tune intraocular lens selection in the second eye. Given these considerations, an open discussion regarding the advantages and disadvantages of ISBCS is important for appropriate patient selection.

  10. Reprint of: Relationship between cataract severity and socioeconomic status.

    Science.gov (United States)

    Wesolosky, Jason D; Rudnisky, Christopher J

    2015-06-01

    To determine the relationship between cataract severity and socioeconomic status (SES). Retrospective, observational case series. A total of 1350 eyes underwent phacoemulsification cataract extraction by a single surgeon using an Alcon Infiniti system. Cataract severity was measured using phaco time in seconds. SES was measured using area-level aggregate census data: median income, education, proportion of common-law couples, and employment rate. Preoperative best corrected visual acuity was obtained and converted to logarithm of the minimum angle of resolution values. For patients undergoing bilateral surgery, the generalized estimating equation was used to account for the correlation between eyes. Univariate analyses were performed using simple regression, and multivariate analyses were performed to account for variables with significant relationships (p < 0.05) on univariate testing. Sensitivity analyses were performed to assess the effect of including patient age in the controlled analyses. Multivariate analyses demonstrated that cataracts were more severe when the median income was lower (p = 0.001) and the proportion of common-law couples living in a patient's community (p = 0.012) and the unemployment rate (p = 0.002) were higher. These associations persisted even when controlling for patient age. Patients of lower SES have more severe cataracts. Copyright © 2015. Published by Elsevier Inc.

  11. Laser-assisted cataract surgery: benefits and barriers.

    Science.gov (United States)

    Hatch, Kathryn M; Talamo, Jonathan H

    2014-01-01

    The use of the femtosecond laser (FSL) in cataract surgery may represent the largest advancement in the field since the inception of phacoemulsification. The goal of this review is to outline the benefits of and barriers to this technology. There are several significant potential benefits of the FSL in cataract surgery over conventional manual cataract surgery: precise capsulotomy formation, clear corneal and limbal relaxing incision construction, lens fragmentation, and lens softening. Evidence suggests that refractive benefits include more precise effective lens position as well as reduced effective phacoemulsification time with the use of FSL compared with manual surgery. Patients with conditions such as Fuchs' endothelial dystrophy, pseudoexfoliation, history of trauma, or brunescent cataracts may particularly benefit from this technology. There are significant financial and logistical issues to consider prior to the purchase of a FSL, including the cost of the laser, and charges to patients, and how the laser affects the patient flow in the operating room. The FSL may significantly change the current approach to cataract surgery.

  12. Cataract surgery in patients with nanophthalmos: results and complications.

    Science.gov (United States)

    Wu, Wayne; Dawson, Daniel G; Sugar, Alan; Elner, Susan G; Meyer, Kathy A; McKey, Jesse B; Moroi, Sayoko E

    2004-03-01

    To evaluate the results and complications of cataract surgery in patients with nanophthalmos. University hospital practice. The records of consecutive patients with nanophthalmos who had cataract surgery from 1978 through 2002 were reviewed for ocular diagnoses, corneal diameter, keratometry, axial length, retinal-choroidal-scleral thickness determined by echography, ocular surgeries, visual acuity, and complications. Eight patients (6 women, 2 men) with a mean age of 59 years were reviewed. Four patients were not previously diagnosed with nanophthalmos; increased retinal-choroidal-scleral thickness (mean 2.41 mm) confirmed the diagnosis. Twelve eyes had cataract extraction with posterior chamber intraocular lens (IOL) implantation, 11 by phacoemulsification and 1 by extracapsular cataract extraction, and 4 eyes had lamellar scleral resections. Additional surgeries included glaucoma laser treatment (8 eyes), cyclocryotherapy (2 eyes), trabeculectomy with scleral resection (1 eye), trabeculectomy combined with phacoemulsification (1 eye), and neodymium:YAG laser capsulotomy (4 eyes). No eye lost vision; however, complications included severe iritis, broken IOL haptic with vitreous loss, posterior capsule opacity, choroidal hemorrhage, phthisis, and aqueous misdirection. Results indicate that echography should be used to assess retinal-choroidal-scleral thickness in eyes that are hyperopic and at risk for narrow-angle glaucoma. Thickening may confirm the diagnosis of nanophthalmos and allow careful preoperative assessment and appropriate operative procedures in these high-risk eyes. With advances in cataract, glaucoma, and uveal effusion treatments, surgical results in patients with nanophthalmos are improving.

  13. Hereditary and non-hereditary microangiopathies in the young. An up-date.

    Science.gov (United States)

    Ringelstein, E Bernd; Kleffner, Ilka; Dittrich, Ralf; Kuhlenbäumer, Gregor; Ritter, Martin A

    2010-12-15

    In recent years, a considerable number of new sporadic or hereditary small artery diseases of the brain have been detected which preferably occur in younger age, below 45 years. Cerebral microangiopathies constitute an appreciable portion of all strokes. In middle aged patients, hereditary cerebral small vessel diseases have to be separated from sporadic degenerative cerebral microangiopathy which is mainly due to a high vascular risk load. Features of the following disorders and details how to differentiate them, are reviewed here, namely CADASIL, MELAS, AD-RVLC, HEMID, CARASIL, PADMAL, FABRY, COL4A1-related cerebral small vessel diseases and a Portuguese type of autosomal dominant cerebral small vessel disease (SVDB). The symptomatic overlap of the cerebral microangiopathies include also other distinctive non-hereditary diseases like posterior (reversible) encephalopathy and Susac's syndrome which are also described. Some of the microangiopathies described here are not only seen in the young but also in the elderly. The precise diagnosis has direct therapeutic implications in several of these entities. Cerebral microangiopathies cause recurring strokes and diffuse white matter lesions leading to a broad spectrum of gait disturbances and in most of these disorders cognitive impairment or even vascular dementia in the long term. Often, they also involve the eye, the inner ear or the kidney. Several typical imaging findings from illustrative cases are presented. The order in which these diseases are presented here is not dictated by an inner logic principle, because a genetically or pathophysiologically based classification system of all these entities does not exist yet. Some entities are well established and not unusual, whereas others have only been described in a few cases in total. Copyright © 2010 Elsevier B.V. All rights reserved.

  14. Fitness costs of increased cataract frequency and cumulative radiation dose in natural mammalian populations from Chernobyl

    OpenAIRE

    Lehmann, Philipp; Boraty?ski, Zbyszek; Mappes, Tapio; Mousseau, Timothy A.; M?ller, Anders P.

    2016-01-01

    A cataract is a clouding of the lens that reduces light transmission to the retina, and it decreases the visual acuity of the bearer. The prevalence of cataracts in natural populations of mammals, and their potential ecological significance, is poorly known. Cataracts have been reported to arise from high levels of oxidative stress and a major cause of oxidative stress is ionizing radiation. We investigated whether elevated frequencies of cataracts are found in eyes of bank voles Myodes glare...

  15. Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis.

    Science.gov (United States)

    Höblinger, A; Erdmann, C; Strassburg, C P; Sauerbruch, T; Lammert, F

    2009-04-16

    Here we report a 33-years-old woman with hereditary spherocytosis and hemochromatosis due to homozygosity for the C282Y mutation of the HFE gene. The coinheritance of both conditions led to severe iron overload and liver cirrhosis at young age. The patient was treated by repeated phlebotomy, and reversibility of cirrhosis was documented by transient elastography. This report discusses the pathophysiology of iron accumulation in patients with hemolytic anemia combined with HFE C282Y homozygosity. The case indicates that patients with hematological disorders characterized by increased erythropoetic activity should be screened for HFE mutations.

  16. Etiopathogenesis of presenile cataracts in Central Kerala: A cross-sectional observational study

    Directory of Open Access Journals (Sweden)

    R Jyothi

    2017-01-01

    Conclusion: Apart from DM and atopy, the place of residence and occupation (and thus possibly exposure to ultraviolet radiations is also associated with the development of presenile cataract. Posterior subcapsular cataract is the most common type of presenile cataract in Central Kerala.

  17. Patient's experiences with quality of hospital care: the Dutch Consumer Quality Index Cataract Questionnaire.

    NARCIS (Netherlands)

    Stubbe, J.H.; Brouwer, W.; Delnoij, D.M.J.

    2007-01-01

    BACKGROUND: Patients' feedback is of great importance in health care policy decisions. The Consumer Quality Index Cataract Questionnaire (CQI Cataract) was used to measure patients' experiences with quality of care after a cataract operation. This study aims to evaluate the reliability and the

  18. The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46

    DEFF Research Database (Denmark)

    Hansen, Lars; Yao, Wenliang; Eiberg, Hans

    2006-01-01

    "Ant-egg" cataract is a rare, distinct variety of congenital/infantile cataract that was reported in a large Danish family in 1967. This cataract phenotype is characterized by ant-egg-like bodies embedded in the lens in a laminar configuration and is inherited as an autosomal dominant trait. We r...

  19. Cataract surgery in juvenile xanthogranuloma: Case report and a brief review of literature

    Directory of Open Access Journals (Sweden)

    R Muralidhar

    2013-01-01

    Full Text Available There is limited literature on the management of cataracts in juvenile xanthogranuloma (JXG. A 2-month-old girl presented to us with hyphema, secondary glaucoma OU and skin nodules suggestive of JXG. She developed bilateral cataracts during her follow-up and was treated successfully with cataract surgery and aphakic rehabilitation.

  20. Leber hereditary optic neuropathy: current perspectives

    Science.gov (United States)

    Meyerson, Cherise; Van Stavern, Greg; McClelland, Collin

    2015-01-01

    Leber hereditary optic neuropathy (LHON) is one of the most common inherited optic neuropathies causing bilateral central vision loss. The disorder results from point mutations in mitochondrial DNA and subsequent mitochondrial dysfunction. The primary cell type that is lost in LHON is the retinal ganglion cell, which is highly susceptible to disrupted ATP production and oxidative stress. Inheritance of LHON follows that of mitochondrial genetics, and it has a highly variable clinical phenotype, as other genetic and environmental factors also play a role. Although LHON usually presents with isolated vision loss, some patients suffer other neurological sequelae. For ill-defined reasons, male LHON mutation carriers are more affected than females. Most LHON patients remain legally blind, but a small proportion can experience spontaneous partial recovery, often within the first year of symptom onset. Unfortunately, at this time there are no established curative interventions and treatment is largely supportive. Patients should be offered low vision services and counseled on mitigating risk factors for additional vision loss, such as smoking and consuming alcohol. Encouraging treatments currently undergoing investigation includes ubiquinone analogs, such as idebenone, as well as gene therapy and stem cells to restore ATP synthesis and provide neuroprotection to surviving retinal ganglion cells. PMID:26170609

  1. Molecular Diagnostic and Pathogenesis of Hereditary Hemochromatosis

    Directory of Open Access Journals (Sweden)

    Paulo C. J. L. Santos

    2012-02-01

    Full Text Available Hereditary hemochromatosis (HH is an autosomal recessive disorder characterized by enhanced intestinal absorption of dietary iron. Without therapeutic intervention, iron overload leads to multiple organ damage such as liver cirrhosis, cardiomyopathy, diabetes, arthritis, hypogonadism and skin pigmentation. Most HH patients carry HFE mutant genotypes: homozygosity for p.Cys282Tyr or p.Cys282Tyr/p.His63Asp compound heterozygosity. In addition to HFE gene, mutations in the genes that encode hemojuvelin (HJV, hepcidin (HAMP, transferrin receptor 2 (TFR2 and ferroportin (SLC40A1 have been associated with regulation of iron homeostasis and development of HH. The aim of this review was to identify the main gene mutations involved in the pathogenesis of type 1, 2, 3 and 4 HH and their genetic testing indication. HFE testing for the two main mutations (p.Cys282Tyr and p.His63Asp should be performed in all patients with primary iron overload and unexplained increased transferrin saturation and/or serum ferritin values. The evaluation of the HJV p.Gly320Val mutation must be the molecular test of choice in suspected patients with juvenile hemochromatosis with less than 30 years and cardiac or endocrine manifestations. In conclusion, HH is an example that genetic testing can, in addition to performing the differential diagnostic with secondary iron overload, lead to more adequate and faster treatment.

  2. CLINICAL APPROACH TO HEREDITARY HEMORRHAGIC TELANGIECTASIA

    Directory of Open Access Journals (Sweden)

    Mary Hachmeriyan

    2013-11-01

    Full Text Available Background: Hereditary hemorrhagic telangiectasia (HHT or Rendu-Osler-Weber disease is a rare syndrome, inherited as an autosomal dominant trait with incidence of 1/10000. The clinical manifestations are due to vascular malformations and predisposition to hemorrhages in different organs, the leading symptom being recurrent epistaxis. If diagnosed with HHT, the patient and his relatives and especially children have to be screened for occult vascular malformations.Case report: A 30 years old woman was treated for cerebral stroke, epistaxis, anemia, arterio-venous malformations for over 6 months. Only at this point she was diagnosed with HHT, after noticing the typical mucosal changes. Focused family history revealed symptoms of HHT in her only child, her father, aunt and two cousins The child was screened for occult vascular malformations – attainment of the nasal mucosa, lungs, gastrointestinal system, liver and brain. Pulmonary and gastrointestinal arterio-venous malformations were proven.Conclusion: Any case of recurrent epistaxis should be evaluated for HHT. After confirmation of the diagnosis every patient and close relatives have to be screened for attainment of other organs and followed up in order to prevent severe life threatening complications.

  3. Genetics of hereditary neurological disorders in children.

    Science.gov (United States)

    Huang, Yue; Yu, Sui; Wu, Zhanhe; Tang, Beisha

    2014-04-01

    Hereditary neurological disorders (HNDs) are relatively common in children compared to those occurring in adulthood. Recognising clinical manifestations of HNDs is important for the selection of genetic testing, genetic testing results interpretation, and genetic consultation. Meanwhile, advances in next generation sequencing (NGS) technologies have significantly enabled the discovery of genetic causes of HNDs and also challenge paediatricians on applying genetic investigation. Combination of both clinical information and advanced technologies will enhance the genetic test yields in clinical setting. This review summarises the clinical presentations as well as genetic causes of paediatric neurological disorders in four major areas including movement disorders, neuropsychiatric disorders, neuron peripheral disorders and epilepsy. The aim of this review is to help paediatric neurologists not only to see the clinical features but also the complex genetic aspect of HNDs in order to utilise genetic investigation confidently in their clinical practice. A smooth transition from research based to clinical use of comprehensive genetic testing in HNDs in children could be foreseen in the near future while genetic testing, genetic counselling and genetic data interpretation are in place appropriately.

  4. A locus for isolated cataract on human Xp.

    Science.gov (United States)

    Francis, P J; Berry, V; Hardcastle, A J; Maher, E R; Moore, A T; Bhattacharya, S S

    2002-02-01

    To genetically map the gene causing isolated X linked cataract in a large European pedigree. Using the patient registers at Birmingham Women's Hospital, UK, we identified and examined 23 members of a four generation family with nuclear cataract. Four of six affected males also had complex congenital heart disease. Pedigree data were collated and leucocyte DNA extracted from venous blood. Linkage analysis by PCR based microsatellite marker genotyping was used to identify the disease locus and mutations within candidate genes screened by direct sequencing. The disease locus was genetically refined to chromosome Xp22, within a 3 cM linkage interval flanked by markers DXS9902 and DXS999 (Zmax=3.64 at theta=0 for marker DXS8036). This is the first report of a locus for isolated inherited cataract on the X chromosome. The disease interval lies within the Nance-Horan locus suggesting allelic heterogeneity. The apparent association with congenital cardiac anomalies suggests a possible new oculocardiac syndrome.

  5. Incidence and risk factors for chronic uveitis following cataract surgery.

    Science.gov (United States)

    Patel, Chirag; Kim, Stephen Jae; Chomsky, Amy; Saboori, Mazeyar

    2013-04-01

    To determine the incidence of and associated risk factors for uveitis after cataract surgery. A total of 17,757 eyes were identified and records of 42 eyes that developed uveitis and 2320 eyes that did not were reviewed. Postsurgical uveitis was defined as persistent inflammation for ≥ 6 months after surgery. Forty-two eyes of 35 patients developed uveitis (0.24%). Eleven patients underwent consecutive cataract surgery but developed unilateral uveitis, and intraoperative complications occurred in 55% of uveitic eyes compared to 0% in fellow eyes (p < 0.05). Median duration of inflammation was 8 and 11.5 months in eyes with and without vitrectomy (p < 0.05). Intraocular complications occurred in 44 and 8.3% of eyes that did and did not develop uveitis, respectively (p = 0.01). Postsurgical uveitis developed after approximately 1 in 400 cataract surgeries and occurred more frequently in eyes experiencing intraoperative complications.

  6. One-year outcomes of AquaLase cataract surgery.

    Science.gov (United States)

    Yoo, Sonia H; Bhatt, Anand B

    2007-01-01

    The authors report surgical experience and clinical outcomes up to 1 year postoperatively in patients who underwent cataract surgery with the AquaLase liquefaction device (Alcon Laboratories, Fort Worth, TX). The device is a handpiece option for use with Alcon's Infiniti Vision System that uses heated balanced saline solution micropulses to liquefy lenticular material. Twenty-seven eyes of 23 patients underwent cataract extraction with the use of the AquaLase liquefaction device. The average age of participants was 68 years, and the average nuclear sclerotic grade was 1.96 on a 4-point scale. Outcomes were judged by metrics such as visual acuity, inflammation, endothelial cell count, and postoperative posterior capsule opacification. At 30 days postoperatively, 78% of eyes had a best-corrected visual acuity of 20/20. Visual acuity was 20/25 or better 1 year postoperatively in 88% of patients without complications except conversion to ultrasound phacoemulsification for two dense cataracts.

  7. Pros and cons of immediately sequential bilateral cataract surgery (ISBCS).

    Science.gov (United States)

    Grzybowski, Andrzej; Wasinska-Borowiec, Weronika; Claoué, Charles

    2016-01-01

    Immediately sequential bilateral cataract surgery (ISBCS) is currently a "hot topic" in ophthalmology. There are well-documented advantages in terms of quicker visual rehabilitation and reduced costs. The risk of bilateral simultaneous endophthalmitis and bilateral blindness is now recognized to be minuscule with the advent of intracameral antibiotics and modern management of endophthalmitis. Refractive surprises are rare for normal eyes and with the use of optical biometry. Where a general anesthetic is indicated for cataract surgery, the risk of death from a second anesthetic is much higher than the risk of blindness. A widely recognized protocol from the International Society of Bilateral Cataract Surgeons needs to be adhered to if surgeons wish to start practicing ISBCS.

  8. Visual outcome of traumatic cataract surgery in Ibadan, Nigeria.

    Science.gov (United States)

    Bekibele, C O; Fasina, O

    2008-12-01

    To review the visual outcome of traumatic cataracts operated at the University College Hospital, Ibadan with the view to making recommendations for improved outcome. All patients operated at the University College Hospital Ibadan, Nigeria between May 1999 and April 2004 with traumatic cataract were reviewed retrospectively to determine visual outcome and main causes of poor visual outcome notes of patients 32 patients, age range 2 to 71 years, mean age 25.6 +/- SD 16.1 years were reviewed. 22 (68.8%) were males while 10 (31.2%) were females. Causes of traumatic cataract included wood/stick splinters in 7 (21.9%), cane/whiplash injury 6 (18.8%), and propelled missile injuries, 5 (15.6%). Less important cause of injuries were gun shot, road traffic accident and fist injuries. 11 (35.6%) of the patients had best corrected post operative visual acuity of >6/18, 10 (32.2%) noted.

  9. Outcomes of Surgery for Posterior Polar Cataract Using Torsional Ultrasound

    Directory of Open Access Journals (Sweden)

    Selçuk Sızmaz

    2013-10-01

    Full Text Available Purpose: The aim of this study is to report outcomes of surgery for posterior polar cataract using torsional ultrasound. Material and Method: Medical records of 26 eyes of 21 consecutive patients with posterior polar cataract who had cataract surgery using the torsional phacoemulsification were evaluated retrospectively. The surgical procedure used, phacoemulsification parameters, intraoperative complications, and postoperative visual outcome were recorded. Results: Of the 26 eyes, 24 (92.3% had small to medium posterior polar opacity. Two eyes had large opacity. All surgeries were performed using the torsional handpiece. Posterior capsule rupture occurred in 4 (15.3% eyes. The mean visual acuity improved significantly after surgery (p<0.001. The postoperative visual acuity was worse than 20/20 in 5 eyes. The cause of the low acuity was amblyopia. Discussion: Successful surgical results and good visual outcome can be achieved with phacoemulsification using the torsional handpiece. (Turk J Ophthalmol 2013; 43: 345-7

  10. Femtosecond laser cataract surgery: technology and clinical practice.

    Science.gov (United States)

    Roberts, Timothy V; Lawless, Michael; Chan, Colin Ck; Jacobs, Mark; Ng, David; Bali, Shveta J; Hodge, Chris; Sutton, Gerard

    2013-03-01

    The recent introduction of femtosecond lasers to cataract surgery has generated much interest among ophthalmologists around the world. Laser cataract surgery integrates high-resolution anterior segment imaging systems with a femtosecond laser, allowing key steps of the procedure, including the primary and side-port corneal incisions, the anterior capsulotomy and fragmentation of the lens nucleus, to be performed with computer-guided laser precision. There is emerging evidence of reduced phacoemulsification time, better wound architecture and a more stable refractive result with femtosecond cataract surgery, as well as reports documenting an initial learning curve. This article will review the current state of technology and discuss our clinical experience. © 2012 The Authors. Clinical and Experimental Ophthalmology © 2012 Royal Australian and New Zealand College of Ophthalmologists.

  11. Cataracts in A-bomb survivors

    International Nuclear Information System (INIS)

    Neriishi, Kazuo

    2013-01-01

    Described is the process leading to the revision of ICRP recommendation for the threshold dose of cataracts (CA) to be 0.5 Sv (2011). The threshold for CA, posterior subcapsular (ps), was defined to be 2 Gy. However, recent investigations for 837 A-bomb survivors by slit lamp test revealed that, in addition to the CA above, the cortical CA was found to have also responded to the dose. The reanalysis afterward of their stored images showed for the estimated threshold of cortical CA to be 0.6 Sv, and significant dose response with Odds ratio (OR)/Sv of 1.30. For ps-CA, the threshold to be 0.7 Sv and OR/Sv, 1.44 were found. These thresholds were not significantly different from zero. Also found was the dose effect to be significantly decreased with increase of the age at exposure. Similar results had been suggested in cases of Swedish infants, of astronauts, and of Chernobyl clean-up workers. The dose response was further investigated for prevalence and incidence by spreading the criterion of patients to those undergone the operation to remove the lens assuming it had been derived from CA. Analysis of the dose-incidence revealed that the threshold was 0.5 Gy as estimated by the excess relative risk model and 0.45 Gy, by the excess absolute risk model. Findings above indicate that thresholds of CA found recently is much lower than the past 2-5 Gy and can be absent from the statistic aspect, which lead to the revision of the recommendation. The difference between the past and recent threshold is due to the difference of CA tissue types, of the age at exposure and of estimation. (T.T.)

  12. Topical anesthesia: possible risk factor for endophthalmitis after cataract extraction.

    Science.gov (United States)

    Garcia-Arumi, Jose; Fonollosa, Alex; Sararols, Laura; Fina, Francesc; Martínez-Castillo, Vicente; Boixadera, Ana; Zapata, Miguel A; Campins, Magda

    2007-06-01

    To assess the relationship between the risk for acute endophthalmitis after cataract extraction and whether certain factors, such as surgeon qualification, numerical order, duration of surgery, operating theater, and type of anesthesia (topical or retrobulbar), could be modified to decrease the risk. Single-center academic practice. Two epidemiological studies were performed: a case-control study and a retrospective cohort study. The surgical records of all patients with clinically diagnosed endophthalmitis within 30 days after cataract surgery performed between February 2002 and September 2003 were reviewed. The endophthalmitis cases were compared with 108 randomly selected controls (4 controls per case). The global incidence of endophthalmitis and the incidence according to type of anesthesia were calculated. Of 5011 cataract extractions performed, 27 cases of endophthalmitis occurred. The incidence was 5.39 per 1000 procedures. An independent statistically significant relationship was found between endophthalmitis and the use of topical anesthesia (odds ratio [OR], 11.8; 95% confidence interval [CI], 2.4-58.7) and surgery longer than 45 minutes (OR, 7.2; 95% CI, 1.7-29.7) but not between the other variables. The incidence of endophthalmitis was 1.8 per 1000 cataract extractions with retrobulbar anesthesia and 6.76 per 1000 with topical anesthesia (relative risk [RR], 3.76; 95% CI, 0.89-15.85). After the start of the study period was extended to May 2001, the incidence of endophthalmitis was 1.3 per 1000 cataract extractions with retrobulbar anesthesia and 8.7 per 1000 with topical anesthesia (RR, 6.72; 95% CI, 1.63-27.63). Results suggest that there may be an association between topical anesthesia and endophthalmitis after cataract extraction.

  13. Low-Dose Radiation Cataract and Genetic Determinants of Radiosensitivity

    Energy Technology Data Exchange (ETDEWEB)

    Kleiman, Norman Jay [Columbia University

    2013-11-30

    The lens of the eye is one of the most radiosensitive tissues in the body. Ocular ionizing radiation exposure results in characteristic, dose related, progressive lens changes leading to cataract formation. While initial, early stages of lens opacification may not cause visual disability, the severity of such changes progressively increases with dose until vision is impaired and cataract extraction surgery may be required. Because of the transparency of the eye, radiation induced lens changes can easily be followed non-invasively over time. Thus, the lens provides a unique model system in which to study the effects of low dose ionizing radiation exposure in a complex, highly organized tissue. Despite this observation, considerable uncertainties remain surrounding the relationship between dose and risk of developing radiation cataract. For example, a growing number of human epidemiological findings suggest significant risk among various groups of occupationally and accidentally exposed individuals and confidence intervals that include zero dose. Nevertheless, questions remain concerning the relationship between lens opacities, visual disability, clinical cataract, threshold dose and/or the role of genetics in determining radiosensitivity. Experimentally, the response of the rodent eye to radiation is quite similar to that in humans and thus animal studies are well suited to examine the relationship between radiation exposure, genetic determinants of radiosensitivity and cataractogenesis. The current work has expanded our knowledge of the low-dose effects of X-irradiation or high-LET heavy ion exposure on timing and progression of radiation cataract and has provided new information on the genetic, molecular, biochemical and cell biological features which contribute to this pathology. Furthermore, findings have indicated that single and/or multiple haploinsufficiency for various genes involved in DNA repair and cell cycle checkpoint control, such as Atm, Brca1 or Rad9

  14. Mal de meleda with congenital cataract: A novel case report

    Directory of Open Access Journals (Sweden)

    Anisha Sethi

    2015-01-01

    Full Text Available Mal de meleda (MdM, a rare autosomal recessive genodermatosis is characterized by erythema and hyperkeratosis of the palms and soles with a sharp demarcation and that progress with age (progrediens and extend to the dorsal aspects of the hands and feet (transgrediens. It has been associated with various conditions albeit rarely with congenial cataract. Ocular lens and the skin have the same embryological origins. We hereby present this novel case report of Mal de meleda in association with congenital posterior subcapsular cataract which to the best of our knowledge has not been reported from India before.

  15. Evaluation of povidone-iodine applications in cataract surgery

    Directory of Open Access Journals (Sweden)

    Xi Zhang

    2013-09-01

    Full Text Available As a routine measure to prevent intraocular inflammation, rinsing conjunctival sac with povidone-iodine(PVP-Ihas been increasingly adopted in cataract surgery. It can effectively reduce the complications of cataract surgery, including endophthalmitis and corneal complications. However, PVP-I itself has certain side effects. Therefore, to achieve the best bactericidal effect and to avoid eye injury, it is necessary to find out the optimal treatment duration and concentration. This article offers a review on the latest researches worldwide in this field.

  16. The results of ab interno laser thermal sclerostomy combined with cataract surgery versus trabeculectomy combined with cataract surgery 6 to 12 months postoperatively.

    Science.gov (United States)

    Kendrick, R; Kollarits, C R; Khan, N

    1996-07-01

    When cataract surgery and glaucoma surgery are combined, the theoretical advantages of pressure control, removal of the visual impairment, and protection against an increase in intraocular pressure (IOP) in the immediate postoperative period are gained. The authors' objective was to determine whether ab interno laser thermal sclerostomy (LTS) combined with cataract surgery would be as effective as trabeculectomy combined with cataract surgery. Ab interno LTS was compared with trabeculectomy, retrospectively, for patients who had undergone combined cataract and glaucoma surgery. There was no significant difference in the numbers of patients using no medications or fewer medications at 6 and 12 months. There was a greater reduction in IOP in the LTS group. LTS may be better than trabeculectomy in combined cataract and glaucoma surgery because it reduces the IOP more. Compared with trabeculectomy, LTS is simpler to perform and adds less operating time to cataract surgery. Continued follow-up is recommended.

  17. The prevalence of depression in hereditary spastic paraplegia.

    Science.gov (United States)

    Vahter, L; Braschinsky, M; Haldre, S; Gross-Paju, K

    2009-09-01

    To evaluate the prevalence of depression and sensitivity and specificity of the single-item interview 'Are you depressed?' for people with hereditary spastic paraplegia in Estonia. Single-item interview 'Are you depressed?' was used as a screening question for depression; all participants then completed the Beck Depression Inventory. People with hereditary spastic paraplegia identified from the epidemiological database who agreed to participate in the study. Beck Depression Inventory, clinical interview. The epidemiological database consisted of 59 patients with clinically confirmed diagnosis of hereditary spastic paraplegia. Forty-eight of these consented to participate in the study. The Beck Depression Inventory score was higher than cut-off point in 58% (28/48) and lower in 42% (20/48). Of the study group, 44% (21/48) had mild, 13% (6/48) moderate and one person revealed severe depression. There was a statistically significant correlation between Beck Depression Inventory score and level of mobility; no other significant correlations with other measures were detected. Of the participants, 54% (26/48) had subjective complaints about depression and answered 'Yes' to the single-item interview 'Are you depressed?'. The sensitivity of the one-item interview in the hereditary spastic paraplegia group was 75% and specificity 75%. Our results show that mild depression is prevalent among people with hereditary spastic paraplegia. Although the single question may be helpful, it cannot be relied upon entirely when assessing a person for depression.

  18. Endothelial cell loss and refractive predictability in femtosecond laser-assisted cataract surgery compared with conventional cataract surgery

    DEFF Research Database (Denmark)

    Krarup, Therese; Holm, Lars Morten; la Cour, Morten

    2014-01-01

    and the contralateral eye operated by CPS (stop and chop technique). Both eyes had intraocular aspheric lenses implanted. Uncorrected distance visual acuity (UDVA), corrected distance visual acuity (CDVA), central corneal endothelial cell count and hexagonality with a non-contact specular microscope were assessed......PURPOSE: To investigate the amount of endothelial cell loss (ECL) and refractive predictability by femtosecond laser-assisted cataract surgery (FLACS) compared to conventional phacoemulsification cataract surgery (CPS). METHODS: Forty-seven patients had one eye operated by FLACS...

  19. Ant-egg cataract. A study of a family with dominantly inherited congenital (ant-egg) cataract, including a histological examination of the formed elements

    DEFF Research Database (Denmark)

    Nissen, Steffen; Schrøder, H D

    1979-01-01

    A family with "ant-egg" cataract in three generations is described. The cataract is congenital, probably of autosomal dominant inheritance. Light microscopy of the ant-eggs showed that they are made up of a peripheral zone of lens material and a large almost homogenous centre. Element analysis by......-ray spectrophotometry showed a high content of calcium and phosphorus in the centre. The cataract has been easy to operate on and the postoperative visual results have been good....

  20. Musculoskeletal disease burden of hereditary hemochromatosis.

    Science.gov (United States)

    Sahinbegovic, Enijad; Dallos, Tomáš; Aigner, Elmar; Axmann, Roland; Manger, Bernhard; Englbrecht, Matthias; Schöniger-Hekele, Maximilian; Karonitsch, Thomas; Stamm, Tanja; Farkas, Martin; Karger, Thomas; Stölzel, Ulrich; Keysser, Gernot; Datz, Christian; Schett, Georg; Zwerina, Jochen

    2010-12-01

    To determine the prevalence, clinical picture, and disease burden of arthritis in patients with hereditary hemochromatosis. In this cross-sectional observational study of 199 patients with hemochromatosis and iron overload, demographic and disease-specific variables, genotype, and organ involvement were recorded. The prevalence, intensity, and localization of joint pain were assessed, and a complete rheumatologic investigation was performed. Radiographs of the hands, knees, and ankles were scored for joint space narrowing, erosions, osteophytes, and chondrocalcinosis. In addition, the number and type of joint replacement surgeries were recorded. Joint pain was reported by 72.4% of the patients. Their mean ± SD age at the time of the initial joint symptoms was 45.8 ± 13.2 years. If joint pain was present, it preceded the diagnosis of hemochromatosis by a mean ± SD of 9.0 ± 10.7 years. Bony enlargement was observed in 65.8% of the patients, whereas synovitis was less common (13.6%). Joint space narrowing and osteophytes as well as chondrocalcinosis of the wrist and knee joints were frequent radiographic features of hemochromatosis. Joint replacement surgery was common, with 32 patients (16.1%) undergoing total joint replacement surgery due to severe OA. The mean ± SD age of these patients was 58.3 ± 10.4 years at time of joint replacement surgery. Female sex, metacarpophalangeal joint involvement, and the presence of chondrocalcinosis were associated with a higher risk of early joint failure (i.e., the need for joint replacement surgery). Arthritis is a frequent, early, and severe symptom of hemochromatosis. Disease is not confined to involvement of the metacarpophalangeal joints and often leads to severe damage requiring the replacement of joints. Copyright © 2010 by the American College of Rheumatology.

  1. Outcomes of Lensectomy in Hereditary Lens Subluxation

    Directory of Open Access Journals (Sweden)

    Mohammad-Hossein Dehghan

    2008-12-01

    Full Text Available

    PURPOSE: To evaluate the results of pars plana lensectomy in patients with hereditary lens subluxation. METHOD: Hospital records of patients with hereditary lens subluxation who had undergone pars plana lensectomy at Labbafinejad Medical Center, Tehran-Iran from 1996 to 2003 were reviewed. Patients with more than 6 months of follow up were included. Underlying disorders, best corrected visual acuity (BCVA before and after surgery, intraocular pressure (IOP, postoperative refraction and complications were evaluated. RESULTS: Overall, records of 87 eyes of 49 patients including 27 male and 22 female subjects were reviewed. Mean follow up duration was 20±18 months. Underlying disorders leading to lens subluxation included Marfan syndrome (79.5%, Weill-Marchesani syndrome (8.2%, simple ectopia lentis (8.2%, and homocystinuria (4.1%. The most common indication for surgery was non-correctable refractive error (92.1%. Mean BCVA was 1.13 LogMAR (20/250 preoperatively, which improved to 0.26 LogMAR (20/30-20/40 postoperatively (P < 0.001. BCVA better than 20/40 was achieved in 82.8% of cases after surgery. Angle-supported anterior chamber intraocular lens (ACIOL was implanted in

  2. Cataract surgical coverage rate among adults aged 40 years and older

    Directory of Open Access Journals (Sweden)

    Lusianawaty Tana

    2016-02-01

    Full Text Available Cataract is a leading cause of curable blindness. Hence, in its global declaration of ‘Vision 2020 Right to Sight’, the World Health Organization (WHO encouraged its member countries to address the problem of incident cataract. Many factors are related to the cataract surgical coverage rate, such as gender and diabetes mellitus. The objective of this study was to determine the cataract surgical coverage rate and investigate the determinants factors of cataract surgical coverage rate among adults 40 years old and above with cataract. A cross sectional study was conducted using National Basic Health Research (Riskesdas 2007 data. Cataract surgery was defined as surgery conducted within the last 12 months before the survey was performed. There were 6939 subjects (3105 male, 3834 female who fulfilled the study criteria. The cataract surgical coverage rate was 19.3%. The cataract surgical coverage rate was lower in subjects with low education, in the group of farmers/fishermen/laborers, in the 40-49 years age group, in rural areas, and in subjects of low socioeconomic status (p0.05. Determinants that were related to cataract surgical coverage rate were age, type of area of residence, socioeconomic status, and region of residence (p<0.001. The implementation of educational programs and reforms to local ophthalmic health services may improve the cataract surgical coverage rate.

  3. The value of serial personal photographs in timing the onset of unilateral cataracts in children.

    Science.gov (United States)

    Sawhney, Gagan K; Hutchinson, Amy K; Lambert, Scott R

    2009-10-01

    To determine the value of serial personal photographs in timing the onset of unilateral cataracts in children over 6 months of age. Personal photographs from children with unilateral cataracts who underwent cataract extraction and intraocular lens implantation when > or =6 months of age were reviewed. Photographs were evaluated for changes in the red reflex, which might indicate the presence of a cataract. Twelve children underwent cataract surgery at a mean age of 37 months. They were followed for a mean of 32 months. Ten children were diagnosed as having an acquired cataract by photographic review documenting a previously normal red reflex. The visual acuity in the affected eye of 4 of these children improved to > or =20/60. Cataracts were visible on photographs prior to clinical diagnosis in 6 patients, from 0.5 to 22 months prior to clinical diagnosis. Visual outcomes did not relate closely to the photographically documented duration of the cataract prior to treatment. Photographs were not helpful in timing the onset of cataract in 2 children due to the poor quality of the images. Serial personal photographs are sometimes helpful in determining whether cataracts are acquired. However, the usefulness of personal photographs alone in predicting the visual outcome after cataract surgery was limited in this small, retrospective study.

  4. Mimicking cataract-induced visual dysfunction by means of protein denaturation in egg albumen

    Science.gov (United States)

    Mandracchia, B.; Finizio, A.; Ferraro, P.

    2016-03-01

    As the world's population ages, cataract-induced visual dysfunction and blindness is on the increase. This is a significant global problem. The most common symptoms of cataracts are glared and blurred vision. Usually, people with cataract have trouble seeing and reading at distance or in low light and also their color perception is altered. Furthermore, cataract is a sneaky disease as it is usually a very slow but progressive process, which creates adaptation so that patients find it difficult to recognize. All this can be very difficult to explain, so we built and tested an optical device to help doctors giving comprehensive answers to the patients' symptoms. This device allows visualizing how cataract impairs vision mimicking the optical degradation of the crystalline related cataracts. This can be a valuable optical tool for medical education as well as to provide a method to illustrate the patients how cataract progression process will affect their vision.

  5. A case report of spontaneous mutation (C33>U) in the iron-responsive element of L-ferritin causing hyperferritinemia-cataract syndrome.

    LENUS (Irish Health Repository)

    Cao, Wei

    2010-01-15

    The hereditary hyperferritinemia cataract syndrome (HHCS) is an autosomal dominant disorder characterized by juvenile-onset cataracts and elevated serum ferritin levels. It is caused by mutation in the iron response element (IRE) within the 5\\'UTR of L-ferritin gene. The mutation results in a loss of post-transcriptional negative feedback exerted by the interaction between iron regulatory proteins 1, 2 (IRP1 and IRP2) and IRE, which leads to uncontrolled expression of L-ferritin. In this paper, we describe the molecular pathogenesis of non-hereditary hyperferritinemia cataract syndrome (non-H-HCS) in a patient with typical HHCS ocular lens morphology and high ferritin levels without obvious family history. Initial sequencing of the full-length L-ferritin cloned from genomic DNA demonstrated a mutation (C33>T) in the IRE of the affected patient but not in her unaffected family members. The mutation (C\\/T heterozygote) was also detected in cDNA derived from her blood mononuclear cells. Structure-prediction-modeling indicates that this mutation would significantly alter the secondary structure of the IRE, resulting in a loss of the interaction between IRP and IRE. By using IRP1\\/IRP2-human IgG1 Fc fusion proteins, we established a novel in vitro report system (modified ELISA) to verify impaired IRE\\/IRP binding. Both the C33>U and A40G mutations (the first identified mutation for HHCS) showed a dramatically decreased binding to IRP1\\/IRP2 protein, compared to the normal IRE RNA. Surprisingly, a decrease in L-ferritin mRNA levels was observed in the affected patient compared to controls suggesting a mechanism of transcriptional negative feedback by high intracellular L-ferritin protein levels not described heretofore. Taken together, spontaneous mutation in the IRE of L-ferritin may cause non-H-HCS by the same mechanism as HHCS. In addition, under abnormal circumstances, the protein level of L-ferritin may be principally controlled by post

  6. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis

    NARCIS (Netherlands)

    Vasen, H. F.; Wijnen, J. T.; Menko, F. H.; Kleibeuker, J. H.; Taal, B. G.; Griffioen, G.; Nagengast, F. M.; Meijers-Heijboer, E. H.; Bertario, L.; Varesco, L.; Bisgaard, M. L.; Mohr, J.; Fodde, R.; Khan, P. M.

    1996-01-01

    Hereditary nonpolyposis colorectal cancer is characterized by early-onset colorectal cancer and the occurrence of various other cancers. The recent isolation of four mismatch repair genes responsible for hereditary nonpolyposis colorectal cancer allows for the identification of carriers within

  7. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis

    NARCIS (Netherlands)

    Vasen, HFA; Wijnen, JT; Menko, FH; Kleibeuker, JH; Taal, BG; Griffioen, G; Nagengast, FM; MeijersHeijboer, EH; Bertario, L; Varesco, L; Bisgaard, ML; Mohr, J; Fodde, R; Khan, PM

    Background & Aims: Hereditary nonpolyposis colorectal cancer is characterized by early-onset colorectal cancer and the occurrence of various other cancers, The recent isolation of four mismatch repair genes responsible for hereditary nonpolyposis colorectal cancer allows for the identification of

  8. Anesthetic management of cardiac patient for cataract surgery

    International Nuclear Information System (INIS)

    Farooq, F.B.; Sultan, S.T.

    2003-01-01

    We are reporting the successful anesthetic management of a 6 years old child, who had cyanotic congenital heart disease and underwent an operation for cataract extraction. Ketamine was used for the induction and maintenance of anesthesia. Ventilation was assisted manually by using laryngeal masks. (author)

  9. ASSESSMENT OF PLASMA ZINC STATUS OF SENILE CATARACT ...

    African Journals Online (AJOL)

    ... AND NON-CATARACT ELDERLY PATIENTS IN MID-WESTERN NIGERIA- A CASE ... which may occur in zinc deficiency even with normal vitamin A status. ... La présente étude a pour objet d\\'évaluer le niveau de zinc chez les malades ...

  10. A Sudden Total Loss of Vision After Routine Cataract Surgery ...

    African Journals Online (AJOL)

    We share our experience of a 50-year-old controlled hypertensive woman who had routine cataract surgery in her left eye. She was given retrobulbar Xylocaine with adrenalin and postoperative gentamycin. She subsequently became blind in the operated eye after developing macular infarction by the first day post ...

  11. Visual Outcome Of Traumatic Cataract Surgery In Ibadan, Nigeria ...

    African Journals Online (AJOL)

    Causes of traumatic cataract includedwood /stick splinters in 7 (21.9%), cane/ whiplash injury 6(18.8%), and propelled missile injuries, 5(15.6%). Less important cause of injuries were gun shot, road traffic accident and fist injuries. 11 (35.6%) of the patients had best corrected post operative visual acuity of >6/18, 10 (32.2%) ...

  12. Trainee ophthalmologists' opinions on ways to improve cataract ...

    African Journals Online (AJOL)

    Objective: To know the opinions of trainee ophthalmologists on ways to improve cataract surgical rate (CSR) with a view to having insight into actions that should be of high priority for achieving this improvement. Methods: A survey of 27 trainee ophthalmologists using structured self-administered questionnaire. Results: ...

  13. Preliminary observation of refractive cataract surgery assisted by femtosecond laser

    Directory of Open Access Journals (Sweden)

    Xiao-Li Wang

    2015-12-01

    Full Text Available AIM:To compare the differences of visual acuity and corneal astigmatism postoperatively between conventional refractive cataract surgery and that assisted by femtosecond laser.METHODS:Sixty patients(60 eyeswith age-related cataract and cornea astigmatism were divided into femtosecond group and conventional group randomly or voluntarily. The flat shaft, steep shaft and diopter of corneal astigmatism in patients in femtosecond group were inputted into the online vector calculators to get the location and width of the incision. Then femtosecond laser was used to make corneal releasing incision, the main and auxiliary incision. Phacoemulsification and aspheric multifocal intraocular lens implantation were undergone. Patients in conventional group received full-thickness relaxing incision by cornea paracentesis knife at the steepest meridian axis during phacoemulsification. Then aspheric multifocal intraocular lenses were implanted. Uncorrected distance visual acuity(UCDVA, uncorrected near visual acuity(UCNVAand cornea astigmatism were observed at 1d,1wk and 1mo postoperative. RESULTS:UCVA of patients in both groups was improved after the surgeries. UCDVA and UCNVA of femtosecond group were higher than those of conventional group, while the cornea astigmatism of femtosecond group was lower than that of conventional group.CONCLUSION:Refractile cataract surgery assisted by femtosecond laser canoffer better visual quality than conventional refractive cataract surgery because of lower cornea astigmatism and better visual acuity.

  14. Cataract production in mice by heavy charged particles

    International Nuclear Information System (INIS)

    Ainsworth, E.H.; Jose, J.; Yang, V.V.; Barker, M.E.

    1981-03-01

    The cataractogenic effects of heavy charged particles have been evaluated in mice in relation to dose and ionization density (LET/sub infinity/). The study was undertaken due to the high potential for eye exposures to HZE particles among SPS personnel working in outer space. This has made it imperative that the relative biological effectiveness (RBE) in relation to LET/sub infinity/ for various particles be defined so that appropriate quality factors (Q) could be assigned for estimation of risk. Although mice and men differ in susceptibility to radiation-induced cataracts, the results from this project should assist in defining appropriate quality factors in relation to LET/sub infinity/, particle mass, charge, or velocity. Evaluation of results indicated that : (1) low single doses (5 to 20 rad) of iron ( 56 Fe) or argon ( 40 Ar) particles are cataractogenic at 11 to 18 months after irradiation; (2) onset and density of the opacification are dose related; (3) cataract density (grade) at 9, 11, 13, and 16 months after irradiation shows partial LET/sub infinity/-dependence; and (4) the severity of cataracts is reduced significantly when 417 rad of 60 Co gamma radiation is given in 24 weekly 17 rad fractions compared to giving this radiation as a single dose, but cataract severity is not reduced by fractionation of 12 C doses over 24 weeks

  15. Complications of Cataract Surgery at the University Teaching ...

    African Journals Online (AJOL)

    Visual outcome was not significantly affected by the early postoperative complication, but was significantly affected by late postoperative complication. Proper management of operative complications will help in reducing their adverse effects on the eye. Key words: cataract surgery, operative, complications, visual outcome ...

  16. Cataract surgery in patients with pseudoexfoliation syndrome: current updates

    Directory of Open Access Journals (Sweden)

    Fontana L

    2017-07-01

    Full Text Available Luigi Fontana, Marco Coassin, Alfonso Iovieno, Antonio Moramarco, Luca Cimino Ophthalmology Unit, Arcispedale Santa Maria Nuova – IRCCS, Reggio Emilia, Italy Abstract: Pseudoexfoliation is a ubiquitous syndrome of multifactorial origin affecting elderly people by increasing the risk of cataract and secondary glaucoma development. Despite modern techniques and technologies for cataract surgery, pseudoexfoliation syndrome represents a challenge for surgeons because of the increased weakness of the zonular apparatus and limited pupil dilation. Due to the inherent difficulties during surgery, the risk of vitreous loss in these patients is several times higher than in cataract patients without pseudoexfoliation. Using currently available surgical devices (ophthalmic viscosurgical device, iris retractors and ring dilators, capsular tension ring, etc., the risk of intraoperative complications may be much reduced, allowing the surgeon to handle difficult cases with greater confidence and safety. This review analyzes the methodologic approach to the patient with zonular laxity with the aim of providing useful advices to limit the risks of intraoperative and postoperative complications. From the preoperative planning, to the intraoperative management of the small pupil and phacodonesis, and to the postoperative correction of capsule phimosis and intraocular lens dislocation, a step approach to the surgical management of pseudoexfoliation patients is illustrated. Keywords: pseudoexfoliation syndrome, cataract surgery, zonular laxity, intraocular lens implant, complications

  17. Affordability of cataract surgery using the Big Mac prices

    Directory of Open Access Journals (Sweden)

    Van C. Lansingh

    2015-01-01

    Conclusion: The price of cataract surgery does not consider the patient's capacity to pay, based on a simple tool such as the BMcI. This suggests affordability issues, particularly when patients work for minimum wages and/or do not have access to free health care.

  18. Phacoemulsification of bilateral cataracts in two pet rabbits

    African Journals Online (AJOL)

    Ibrahim Eldaghayes

    2018-04-04

    Apr 4, 2018 ... treatment of cataracts can be considered as a treatment option whenever a healthy rabbit is visually impaired due ... titers were 0.711 (>0.350: consistent with infection). ..... Valinhos, M.A.R., Ranzani, J.J.T., Rodrigues, A.C.L..

  19. [Treatable diseases of the nervous system with cataract formation].

    Science.gov (United States)

    Baumgartner, R W; Waespe, W

    1993-02-01

    The detection of a cataract in combination with a neurological deficit may provide the physician with important diagnostic help. But a minority of underlying diseases (angiokeratoma corporis diffusum, cerebrotendinous xanthomatosis, diabetes mellitus, galactosemia, hypocalcemia, Refsum's disease, Wilson's disease; Charles Bonnet syndrome; relapsing Perichondritis; adverse effects of medication and intoxications) can be treated causally. Therefore they are summed up and discussed in this paper.

  20. Poor cataract surgical output: Eye care workers perspective in north ...

    African Journals Online (AJOL)

    2012-01-25

    Jan 25, 2012 ... reasons were high cost and fear of surgery, distance of eye clinics from patients. Conclusions: Regular ... Cataract accounts for approximately 50% of the world. 37 million blind;[1] ..... Asia to sub-Saharan Africa? Glob Public ...

  1. Resultats visuels et complications apres chirurgie de la cataracte ...

    African Journals Online (AJOL)

    Resultats visuels et complications apres chirurgie de la cataracte: cas de l' Hopital Ophtalmologique Saint Andre de Tinre au nord-Benin. K.M. Amedome, C.R.A. Assavedo, M Aboudou, K Vonor, N Maneh, K Nonon Saa, K Dzidzinyo, K.D. Ayena, M Banla, K Balo ...

  2. Emerging issues in radiogenic cataracts and cardiovascular disease

    International Nuclear Information System (INIS)

    Hamada, Nobuyuki; Fujimichi, Yuki; Iwasaki, Toshiyasu; Nomura, Takaharu; Fujii, Noriko; Furuhashi, Masato; Kubo, Eri; Minamino, Tohru; Sato, Hitoshi

    2014-01-01

    In 2011, the International Commission on Radiological Protection issued a statement on tissue reactions (formerly termed non-stochastic or deterministic effects) to recommend lowering the threshold for cataracts and the occupational equivalent dose limit for the crystalline lens of the eye. Furthermore, this statement was the first to list circulatory disease (cardiovascular and cerebrovascular disease) as a health hazard of radiation exposure and to assign its threshold for the heart and brain. These changes have stimulated various discussions and may have impacts on some radiation workers, such as those in the medical sector. This paper considers emerging issues associated with cataracts and cardiovascular disease. For cataracts, topics dealt with herein include (1) the progressive nature, stochastic nature, target cells and trigger events of lens opacification, (2) roles of lens protein denaturation, oxidative stress, calcium ions, tumor suppressors and DNA repair factors in cataractogenesis, (3) dose rate effect, radiation weighting factor, and classification systems for cataracts, and (4) estimation of the lens dose in clinical settings. Topics for cardiovascular disease include experimental animal models, relevant surrogate markers, latency period, target tissues, and roles of inflammation and cellular senescence. Future research needs are also discussed. (author)

  3. Prevalence of Cataract Blindness in Rural Ethiopia | Woldeyes ...

    African Journals Online (AJOL)

    ... examinations were performed using torch light, 2.5 X magnifying glasses and an ophthalmoscope. Cataract was defined as lens opacity identified as the cause of blindness and low vision after ruling out other causes. Unfortunately, there was no access to a refraction set and slit lamp to conduct thorough examinations.

  4. Barriers to Utilization of Cataract Surgical Services in Ekiti State ...

    African Journals Online (AJOL)

    2016-11-09

    Nov 9, 2016 ... cataract surgical services was financial constraint as claimed by 65 (49.2%) of them; other reasons include ignorance ... and the new creations are licensed under the identical terms. For reprints contact: reprints@medknow. ... The questionnaire administered includes information on biodata, demographic ...

  5. Trypan blue-assisted posterior capsulorhexis in pediatric cataract surgery

    Directory of Open Access Journals (Sweden)

    Lotfy A

    2017-01-01

    Full Text Available Ayman Lotfy,1,2 Ayman Abdelrahman1,2 1Ophthalmology Department, Zagazig University Hospital, 2Alpha Vision Center, Zagazig, Egypt Purpose: To evaluate the safety and efficacy of staining the posterior capsule with trypan blue during capsulorhexis in pediatric cataract surgery.Patients and methods: This was a prospective randomized comparative study carried out at Alpha Vision Center, Zagazig, Egypt. This study included 2 groups of children with pediatric cataract randomly allocated to undergo irrigation and aspiration. In the trypan group, which included 11 eyes, trypan blue was used to stain the posterior capsule during posterior capsulorhexis. In the control group, which included 10 eyes, no staining was performed. All surgeries were performed by the same surgeon. The 2 groups were compared for criteria such as completion of capsulorhexis, disruption of vitreous face and in-the-bag intraocular lens implantation.Results: This study included 21 eyes of 16 patients (age range: 6 months–4 years. A statistically significant difference was observed for the following parameters between the 2 groups: capsulorhexis completion (P=0.04, vitreous face disruption (P=0.01 and in-the-bag intraocular lens implantation (P=0.022.Conclusion: This study suggests that staining of the posterior capsule during capsulorhexis in pediatric cataract operation gives better results than capsulorhexis without staining. The stain changes the capsule texture making capsulorhexis easier with fewer complications. Keywords: staining, capsulorhexis, pediatric, cataract, trypan

  6. Congenital cataracts in two siblings with Wolfram syndrome.

    Science.gov (United States)

    Mets, Rebecca B; Emery, Sarah B; Lesperance, Marci M; Mets, Marilyn B

    2010-12-01

    Wolfram syndrome is characterized by optic atrophy, insulin dependent diabetes mellitus, diabetes insipidus and deafness. There are several other associated conditions reported in the literature, but congenital or early childhood cataracts are not among them. Observational case series with confirmatory genetic analysis. A pair of siblings, followed over 17 years, who manifest congenital or early childhood cataracts, diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. They are both compound heterozygotes for mutations (V415 deletion and A684V substitution) in the WFS1 gene. Their father has congenital sensorineural hearing loss and developed optic atrophy. He is heterozygous for A684V in WFS1. Wolfram syndrome should be in the differential diagnosis of genetic syndromes associated with congenital and early childhood cataracts. Here, we report on a mother who is a phenotypically normal carrier of an autosomal recessive Wolfram syndrome gene, and a father who has some of the findings of the syndrome and carries a single mutation that appears to be responsible for his hearing loss and optic atrophy. Their 2 children are compound heterozygotes and manifest the full Wolfram syndrome, in addition to cataracts.

  7. Gender issues in a cataract surgical population in South India.

    Science.gov (United States)

    Joseph, Sanil; Ravilla, Thulasiraj; Bassett, Ken

    2013-04-01

    To investigate patterns and characteristics of men and women who used different cataract surgery payment streams in a South Indian hospital. We randomly sampled patients with age-related cataract aged 40 years and over from three routine cataract surgical service streams: walk-in paying, walk-in subsidized and free camp. Presenting visual acuity (VA) and cataract surgical details were obtained from routine hospital records. Demographic and socioeconomic factors were collected from patient interviews. Multiple logistic regression was used to investigate factors associated with use of different streams with walk-in paying as the reference group. There were 7076 eligible admissions (3742 women and 3334 men). Proportionately more women than men attended the walk-in subsidized (56%) or free camp sections (55%) compared to the walk-in paying stream (42%, odds ratio, OR, 1.40 95% confidence interval, CI, 1.25-1.57 and OR 1.33 95% CI 1.19-1.49, respectively). After adjustment for socioeconomic factors (illiteracy, not being in paid work), rural residence and poor presenting VA, OR for women compared to men for the walk-in subsided stream was 1.02, (95% CI 0.87-1.18) and for the free camp 0.94 (95% CI 0.80-1.11). Our results indicate that women are underrepresented in the paying section, reflecting their poorer socioeconomic and educational statuses.

  8. Evaluation of surgical outcome after cataract surgery with lens ...

    African Journals Online (AJOL)

    Ann Burgess

    Design: Retrospective record analysis. Subjects: Record cards of patients operated for cataract at Sakubva Eye Unit, Mutare, Zimbabwe in the period January – ... irrigation/aspiratin cannula. Residual cortex was aspirated and the anterior chamber (AC) deepened with viscoelastic or air depending on availability. A.

  9. Risk of cataract and glaucoma in patients with multiple sclerosis

    NARCIS (Netherlands)

    Marloes Bazelier; Tjeerd van Staa; Bernard Uitdehaag; Sigrid Mueller-Schotte; Hubert Leufkens; Frank de Vries

    2012-01-01

    The aim of the study was to evaluate whether multiple sclerosis (MS) is associated with risk of cataract or glaucoma. We conducted a population-based cohort study utilizing the UK General Practice Research Database (1987–2009) linked to the national hospital registry of England (1997–2008). Incident

  10. Hereditary angioedema: a bradykinin-mediated swelling disorder.

    Science.gov (United States)

    Björkqvist, Jenny; Sala-Cunill, Anna; Renné, Thomas

    2013-03-01

    Edema is tissue swelling and is a common symptom in a variety of diseases. Edema form due to accumulation of fluids, either through reduced drainage or increased vascular permeability. There are multiple vascular signalling pathways that regulate vessel permeability. An important mediator that increases vascular leak is the peptide hormone bradykinin, which is the principal agent in the swelling disorder hereditary angioedema. The disease is autosomal dominant inherited and presents clinically with recurrent episodes of acute swelling that can be life-threatening involving the skin, the oropharyngeal, laryngeal, and gastrointestinal mucosa. Three different types of hereditary angiodema exist in patients. The review summarises current knowledge on the pathophysiology of hereditary angiodema and focuses on recent experimental and pharmacological findings that have led to a better understanding and new treatments for the disease.

  11. Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report

    Directory of Open Access Journals (Sweden)

    Luciano Mesquita Simão

    2012-08-01

    Full Text Available Neuromyelitis optica antibody (or aquaporin-4 antibody is a well stablished serum marker associated to high-risk neuromyelitis optica syndrome that presents as an inflammatory demyelinating disease characterized by the occurrence of bilateral and simultaneous optic neuritis without complete visual recovery or it occurs as an isolated episode of transverse myelitis accompanied by longitudinally extensive spinal cord lesions. On the other hand, Leber hereditary optic neuropathy is a primarily hereditary disorder that affects all tissues of the body and its clinical presentation is tissue-specific for the optic nerve and, eventually, it might reach the spinal cord. Overlapping clinical features of neuromyelitis optica and Leber hereditary optic neuropathy may suggest common target organ diseases. The case report described herein emphasizes the coexistence of serum markers of both diseases, and suggests that further investigation of this challenging clinical presentation is warranted to confirm or rule out this association.

  12. Persistent fetal vasculature: ocular features, management of cataract and outcomes

    Directory of Open Access Journals (Sweden)

    Marcia Beatriz Tartarella

    2013-06-01

    Full Text Available PURPOSES: To describe ocular features, management of cataract and functional outcomes in patients with persistent fetal vasculature. METHODS: Retrospective, descriptive case series of patients with persistent fetal vasculature. Data were recorded from the Congenital Cataract Section of Federal University of São Paulo, Brazil from 2001 to 2012. All patients were evaluated for sex, age at diagnosis, systemic findings, laterality, age at surgery, and initial and final follow-up visual acuities. Follow-up and complications after cataract surgery were recorded. Ultrasound was performed in all cases and ocular eco-Doppler was performed in most. RESULTS: The study comprised 53 eyes from 46 patients. Age at diagnosis ranged from 5 days of life to 10 years-old (mean 22.7 months. Twenty-seven patients were male (58.7%. Persistent fetal vasculature was bilateral in 7 patients (15.2%. Forty-two eyes (79.2% had combined (anterior and posterior forms PFV presentation, 5 eyes (9.4% had only anterior persistent fetal vasculature presentation and 6 eyes (11.3% had posterior persistent fetal vasculature presentation. Thirty-eight eyes (71.7% were submitted to cataract surgery. Lensectomy combined with anterior vitrectomy was performed in 18 eyes (47.4%. Phacoaspiration with intraocular lens implantation was performed in 15 eyes (39.5%, and without lens implantation in 5 eyes (13.2%. Mean follow-up after surgery was 44 months. Postoperative complications were posterior synechiae (3 cases, retinal detachment (2 cases, phthisis (3 cases, posterior capsular opacification (8 cases, inflammatory pupillary membrane (5 cases, glaucoma (4 cases, intraocular lens implantation displacement (1 case and vitreous hemorrhage (2 cases. Complications were identified in 19 (50% of the 38 operated eyes. Visual acuity improved after cataract surgery in 83% of the eyes. CONCLUSIONS: Patients with persistent fetal vasculature have variable clinical presentation. There is an

  13. Strabismus developing after unilateral and bilateral cataract surgery in children

    Science.gov (United States)

    David, R; Davelman, J; Mechoulam, H; Cohen, E; Karshai, I; Anteby, I

    2016-01-01

    Purpose To evaluate the prevalence and risk factors of strabismus in children undergoing surgery for unilateral or bilateral cataract with or without intraocular lens implantation. Methods Medical records of pediatric patients were evaluated from 2000 to 2011. Children undergoing surgery for unilateral or bilateral cataract with at least 1 year of follow-up were included. Children with ocular trauma, prematurity, or co-existing systemic disorders were excluded. The following data were evaluated: strabismus pre- and post-operation; age at surgery; post-operative aphakia or pseudophakia; and visual acuity. Results Ninety patients were included, 40% had unilateral and 60% had bilateral cataracts. Follow-up was on average 51 months (range: 12–130 months). Strabismus was found preoperatively in 34.4% children, and in 43.3% children at last follow-up. Strabismus developed in 46.2% of children who were orthotropic preoperatively, whereas 32.3% of children who had strabismus before surgery became orthotropic. Strabismus occurred after unilateral or bilateral cataract surgery in 63.9% and 29.6% children, respectively. At the last follow-up, strabismus was found in 46.7% of aphakic and 58.7% of pseudophakic children (P=0.283). Children who developed strabismus were generally operated at a younger age as compared with those without strabismus (mean of 25.9 vs 52.7 months, Pstrabismus. Conclusion Strabismus is a frequent complication after cataract surgery in children. Risk factors include unilateral cases and young age at surgery. No correlation was found between prevalence of strabismus and use of intraocular lens. Strabismus was more common in children with poor final visual acuity. PMID:27472210

  14. Observation of Influence of Cataract Surgery on the Ocular Surface.

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    Yuli Park

    Full Text Available To evaluate meibomian gland function, changes of lacrimal tears and ocular surface parameters and tear inflammatory mediators following cataract surgery.48 eyes of 34 patients who underwent uncomplicated phacoemulsification were involved and divided into 2 groups with those who had preexisting dry-eye before cataract surgery and those who did not. Ocular symptom score, Schirmer I test, tear film break-up time (TBUT, corneal sensitivity threshold, corneal staining, inflammatory cytokine activities, lid margin abnormalities, meibum expressibility, meibum quality and meibomian gland imaging were evaluated preoperatively, at 1 day, 1 and 2 months postoperatively.Ocular symptom scores were worse at 1 and 2 months postoperatively but, TBUT, corneal staining score and corneal sensitivity threshold showed gradual improvements at 1 month and 2 months postoperatively (p<0.05, respectively. Interestingly there were statistically significant improvements in TBUT, corneal staining score and corneal sensitivity threshold at 1 month postoperatively when topical eye drops were used compared to the period without topical therapy which is the months 2 postoperatively. There were statistically significant decreases in IL-1β, IL-6, IL-8, MCP-1, TNF-α and IFN-γ concentrations at 1 and 2 months postoperatively. Lid margin abnormalities, meibum quality and expressibility scores increased significantly (p < 0.05, respectively at postoperative period. Compared with the no dry eye group, dry eye group revealed significantly higher ocular symptom scores, lower TBUT, higher lid margin abnormalities, meibum quality and expressibility scores after cataract surgery. There were significant correlations between IL-6 and parameters of dry eye, and between MGD parameters and ocular symptom scores.Our study revealed that meibomian gland function is influenced after cataract surgery accompanying structural changes and these were correlated with increased ocular symptom scores

  15. Results of endocapsular phacofracture debulking of hard cataracts

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    Davison JA

    2015-07-01

    Full Text Available James A Davison Wolfe Eye Clinic, Marshalltown, IA, USA Purpose/aim of the study: To present a phacoemulsification technique for hard cataracts and compare postoperative results using two different ultrasonic tip motions during quadrant removal.Materials and methods: A phacoemulsification technique which employs in situ fracture and endocapsular debulking for hard cataracts is presented. The prospective study included 56 consecutive cases of hard cataract (LOCS III NC [Lens Opacification Classification System III, nuclear color], average 4.26, which were operated using the Infiniti machine and the Partial Kelman tip. Longitudinal tip movement was used for sculpting for all cases which were randomized to receive longitudinal or torsional/interjected longitudinal (Intelligent Phaco [IP] strategies for quadrant removal. Measurements included cumulative dissipated energy (CDE, 3 months postoperative surgically induced astigmatism (SIA, and corneal endothelial cell density (ECD losses.Results: No complications were recorded in any of the cases. Respective overall and longitudinal vs IP means were as follows: CDE, 51.6±15.6 and 55.7±15.5 vs 48.6±15.1; SIA, 0.36±0.2 D and 0.4±0.2 D vs 0.3±0.2 D; and mean ECD loss, 4.1%±10.8% and 5.9%±13.4% vs 2.7%±7.8%. The differences between longitudinal and IP were not significant for any of the three categories.Conclusion: The endocapsular phacofracture debulking technique is safe and effective for phacoemulsification of hard cataracts using longitudinal or torsional IP strategies for quadrant removal with the Infiniti machine and Partial Kelman tip. Keywords: astigmatism, cataract, corneal endothelium, phacoemulsification, viscoelastic

  16. [The occupational radiation-induced cataract in five industrial radiographers].

    Science.gov (United States)

    Benzarti Mezni, A; Loukil, I; Hriz, N; Kallel, K; Mlaiki, N; Ben Jemaâ, A

    2012-04-01

    The industrial uses of ionizing radiation in Tunisia are expanding, especially in industry and most particularly in the nondestructive testing of welds. Thus workers operating in the non-destructive testing of welds may develop a radiation-induced cataract varying in time to onset depending on the dose. To describe the characteristics of the radiation-induced cataract in patients exposed to ionizing radiation, determine the risk factors of radiation-induced cataracts. This was an anamnestic, clinical, and environmental study of five cases of radiation-induced cataract in workers employed in non-destructive testing of welds. This series of five cases had a mean age of 30.2 years and 5.53 years of work experience, ranging from 14 months to 15 years. All the patients were male and industrial radiographers specialized in nondestructive testing of welds. The average duration of exposure to ionizing radiation was 5.53 years. None of the patients had worn protective gear such as eye goggles. The ophthalmic check-up for the five special industrial radiographers showed punctuate opacities in three cases, punctiform opacities in one eye in one case, and phacosclerosis with bilateral lens multiple crystalline stromal opacities in a case of micro-lens opacities in both eyes with opalescence of both eyes in one case. These cataracts had been declared as occupational diseases. The value of a specialized ophthalmologic surveillance among these workers and the early diagnosis of lens opacities must be emphasized. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  17. The Gender Issue in Congenital and Developmental Cataract Surgery

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    Marzieh Katibeh

    2013-01-01

    Full Text Available Purpose: To describe the demographic pattern of congenital cataract surgery at a referral ophthalmology center in Iran and to evaluate any possible difference between the genders. Methods: Subjects aged 15 years or less scheduled for cataract surgery were enrolled in this cross-sectional study. Data was retrieved from the electronic medical records according to the ICD-10 coding system. Age and proportion of operations by sex were the main parameters of interest. We employed analysis of covariance to compare age at surgery and logistic regression to obtain the trend for the number of cataract procedures in boys and girls. Results: Overall, 314 congenital cataract procedures were performed during the study period, 55 (17.5% of which were related to second eye surgery. Operated eyes belonged to male subjects in 172 (54.8% cases and female subjects in 142 (45.2% cases. Mean age at operation for both first and second eyes was 3.2±3.0 years overall, and 3.1±2.9 versus 3.4±3.0 years in girls and boys, respectively (P= 0.62. Surgery was performed before one year of age in 33.2% and before 5 years in 75% of cases. Among patients undergoing second eye surgery, girls presented significantly later than boys (at 4.2±3.3 vs. 2.6±1.7 years, P= 0.012. Conclusion: The rate of congenital/infantile cataract surgery in boys was almost 10% higher than girls. We observed a significant difference only regarding age at second eye surgery which comprised 17.5% of all operations. One third and two thirds of the procedures were performed under the age of one and five years, respectively.

  18. Radioprotective effects of melatonin on radiation-induced cataract

    International Nuclear Information System (INIS)

    Karslioglu, Ie.; Ertekin, M.V.; Taysi, S.; Kocer, Ie.; Sezen, O.; Koc, M.; Bakan, N.; Gepdiremen, A.

    2005-01-01

    One of the mechanisms proposed to explain lens opacification is the oxidation of crystallins, either by radiation or reactive oxygen species (ROS). It has been shown that melatonin has both an anti-peroxidative effect on several tissues and a scavenger effect on ROS. The purpose of this study was to determine the antioxidant role of melatonin (5 mg/kg/day) against radiation-induced cataract in the lens after total-cranium irradiation of rats with a single dose of 5 Gy. Sprague-Dawley rats were divided into four groups. Control group received neither melatonin nor irradiation. Irradiated rats (IR) and melatonin+irradiated rats (IR+Mel) groups were exposed to total cranium irradiation of 5 Gy in a single dose by using a cobalt-60 teletherapy unit. IR+Mel and melatonin (Mel) groups were administered 5 mg/kg melatonin daily by intraperitoneal injections during ten days. Chylack's cataract classification was used in this study. At the end of the 10 th day, the rats were killed and their eyes were enucleated to measure the antioxidant enzymes i.e. the activity of superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px), and lipid peroxidation level (malondialdehyde (MDA)). Irradiation significantly increased the MDA level, as an end product of lipid peroxidation, and also significantly decreased SOD and GSH-Px activity, emphasizing the generation of increased oxidative stress. Rats injected with melatonin only did not cause cataract formation. Melatonin supplementation with irradiation significantly increased the activity of SOD and GSH-Px enzymes and significantly decreased the MDA level. Total cranium irradiation of 5 Gy in a single dose enhanced cataract formation, and melatonin supplementation protected the lenses from radiation-induced cataract formation. Our results suggest that supplementing cancer patients with adjuvant therapy of melatonin may reduce patients suffering from toxic therapeutic regimens such as chemotherapy and/or radiotherapy and may provide

  19. OPTIMIZATION OF LASER SURGERY OF THE SECONDARY CATARACT

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    O. I. Baum

    2016-01-01

    Full Text Available Background: This is a theoretical and experimental study of the thermomechanical effects of laser radiation with a wavelength of 1.06 microns on the eye tissues during a laser surgery on the secondary cataract (pupillary membrane. Its relevance is related to the rates of complications after laser surgery of the eye associated with the choice of energy and time parameters of the laser irradiation. These parameters are related to the occurrence of such factors as unstable fields of thermal stress and pressure that are difficult to take into account and indirectly lead to adverse events when removing the secondary cataract. Aim: To minimize side effects and to optimize the existing technology of laser removal of the secondary cataract. Materials and methods: Samples of a  normal lens capsule and of lens capsules with various types of opacities taken during a  cataract surgery, with various optic characteristics and thickness, were treated with an infrared laser (Nd:YAG laser, 1064 nm. We performed morphometric measurements and built up a  theoretical model of the processes in a continuous medium under the effects of impulse laser irradiation. Results: The results of numerical modelling with this newly developed theoretical model are in satisfactory agreement with the experimental data on development of deformities obtained with the autopsy materials (posterior capsule of the human lens with various optical characteristics and thickness, from thin transparent membranes to more thick opaque samples. Conclusion: This study would allow for optimization of the technology of laser treatment for secondary cataracts by changing the irradiation parameters during the procedure. 

  20. Early versus late traumatic cataract surgery and intraocular lens implantation.

    Science.gov (United States)

    Tabatabaei, S A; Rajabi, M B; Tabatabaei, S M; Soleimani, M; Rahimi, F; Yaseri, M

    2017-08-01

    PurposeTo determine the proper time for traumatic cataract surgery after open globe injuries.SettingFarabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.DesignRandomized clinical trial.Patients and methodsIn a randomized clinical trial, 30 eyes with traumatic cataract after open globe injury with IOL implantation underwent early (in the first week after the trauma) and 30 eyes underwent late cataract surgery (from the first to second month after the trauma). We excluded patients who were under 12-year-old. All patients were visited at 1 week, 4 weeks, 12 weeks, and 6 months after surgery. In each visit, patients were examined regarding visual acuity, intraocular pressure (IOP), anterior chamber inflammation, IOL position, and posterior synechiae. In addition, posterior segment evaluation and fundoscopy were performed. Intraoperative complication including posterior capsular rupture, anterior vitrectomy, and zonulysis as well as the site of IOL implantation were documented and post-operative complications including raised IOP, anterior chamber inflammation, visual axis opacity, posterior synechiae, subluxation of IOL, and IOL pigment deposition were listed.ResultsBest-corrected visual acuity 6 months after surgery was not different between the two groups. Also in early cataract surgery group, the rate of posterior capsular rupture was not significantly higher than the late surgery group (P=0.069). On the other hand, zonulysis was significantly higher in the late procedure group (P=0.039). Other complications including anterior vitrectomy, raised IOP, anterior chamber inflammation, visual axis opacity, posterior synechiae, subluxation of IOL, and IOL pigment deposition were not different in the two groups.ConclusionsEarly and late traumatic cataract surgery and IOL implantation after open globe injuries, have no significant difference regarding the post-surgical BCVA and prominent intraoperative and post-operative complications.

  1. Intragenic Duplication A Novel Mutational Mechanism in Hereditary Pancreatitis

    DEFF Research Database (Denmark)

    Joergensen, M. T.; Geisz, A.; Brusgaard, K.

    2011-01-01

    OBJECTIVES: In a hereditary pancreatitis family from Denmark, we identified a novel intragenic duplication of 9 nucleotides in exon-2 of the human cationic trypsinogen (PRSS1) gene (c.63_71dup) which at the amino-acid level resulted in the insertion of 3 amino acids within the activation peptide...... pancreatitis. The accelerated activation of p.K23_I24insIDK by cathepsin B is a unique biochemical property not found in any other pancreatitis-associated trypsinogen mutant. In contrast, the robust autoactivation of the novel mutant confirms the notion that increased autoactivation is a disease......-relevant mechanism in hereditary pancreatitis....

  2. Fetal MRI of hereditary multiple intestinal atresia with postnatal correlation

    International Nuclear Information System (INIS)

    Githu, Tangayi; Merrow, Arnold C.; Lee, Jason K.; Garrison, Aaron P.; Brown, Rebeccah L.

    2014-01-01

    Hereditary multiple intestinal atresia (HMIA) is an extremely uncommon cause of congenital bowel obstruction. The morbidity and mortality of this disease differ significantly from those of isolated intestinal atresias and non-hereditary forms of multiple intestinal atresia. Most notably, despite successful operative repairs of the atresias found in this disease, HMIA maintains a 100% lethality rate from continued post-operative intestinal failure and an associated severe immunodeficiency. We present a case of HMIA evaluated with fetal MRI and subsequently diagnosed by a combination of corroborative postnatal imaging with surgical exploration and pathological examination. (orig.)

  3. Hereditary Gigantism-the biblical giant Goliath and his brothers.

    Science.gov (United States)

    Donnelly, Deirdre E; Morrison, Patrick J

    2014-05-01

    The biblical giant Goliath has an identifiable family tree suggestive of autosomal dominant inheritance. We suggest that he had a hereditary pituitary disorder possibly due to the AIP gene, causing early onset and familial acromegaly or gigantism. We comment on the evidence within the scriptures for his other relatives including a relative with six digits and speculate on possible causes of the six digits. Recognition of a hereditary pituitary disorder in the biblical Goliath and his family sheds additional information on his and other family members' battles with David and his relatives.

  4. Dysphonia and vocal fold telangiectasia in hereditary hemorrhagic telangiectasia.

    Science.gov (United States)

    Chang, Joseph; Yung, Katherine C

    2014-11-01

    This case report is the first documentation of dysphonia and vocal fold telangiectasia as a complication of hereditary hemorrhagic telangiectasia (HHT). Case report of a 40-year-old man with HHT presenting with 2 years of worsening hoarseness. Hoarseness corresponded with a period of anticoagulation. Endoscopy revealed vocal fold scarring, vocal fold telangiectasias, and plica ventricular is suggestive of previous submucosal vocal fold hemorrhage and subsequent counterproductive compensation with ventricular phonation. Hereditary hemorrhagic telangiectasia may present as dysphonia with vocal fold telangiectasias and place patients at risk of vocal fold hemorrhage. © The Author(s) 2014.

  5. Fetal MRI of hereditary multiple intestinal atresia with postnatal correlation

    Energy Technology Data Exchange (ETDEWEB)

    Githu, Tangayi [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Radiology of Huntsville, P.C., Huntsville, AL (United States); Merrow, Arnold C.; Lee, Jason K. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Garrison, Aaron P. [Cincinnati Children' s Hospital Medical Center, Department of Surgical Services, Division of Pediatric General and Thoracic Surgery, Cincinnati, OH (United States); Akron Children' s Hospital, Pediatric Surgery, Akron, OH (United States); Brown, Rebeccah L. [Cincinnati Children' s Hospital Medical Center, Department of Surgical Services, Division of Pediatric General and Thoracic Surgery, Cincinnati, OH (United States)

    2014-03-15

    Hereditary multiple intestinal atresia (HMIA) is an extremely uncommon cause of congenital bowel obstruction. The morbidity and mortality of this disease differ significantly from those of isolated intestinal atresias and non-hereditary forms of multiple intestinal atresia. Most notably, despite successful operative repairs of the atresias found in this disease, HMIA maintains a 100% lethality rate from continued post-operative intestinal failure and an associated severe immunodeficiency. We present a case of HMIA evaluated with fetal MRI and subsequently diagnosed by a combination of corroborative postnatal imaging with surgical exploration and pathological examination. (orig.)

  6. Do older drivers with bilateral cataract self-regulate their driving while waiting for first eye cataract surgery?

    Directory of Open Access Journals (Sweden)

    Agramunt S

    2017-11-01

    Full Text Available Seraina Agramunt,1 Lynn B Meuleners,1 Michelle L Fraser,1 Kyle C Chow,1 Jonathon Q Ng,2,3 Vignesh Raja,4 Nigel Morlet2,3 1Curtin-Monash Accident Research Centre (C-MARC, Curtin University, Faculty of Health Sciences, Perth, Australia; 2Eye & Vision Epidemiology Research (EVER Group, Perth, Australia; 3School of Population and Global Health, The University of Western Australia, Perth, Australia; 4Sir Charles Gairdner Hospital, Perth, Australia Objectives: To analyze the association between visual impairment and driver self-regulation among a cohort of older drivers waiting for first eye cataract surgery.Methods: Ninety-six drivers with bilateral cataract aged 55+ years were assessed before first eye cataract surgery. Data collection consisted of a researcher-administered questionnaire, objective visual measures (visual acuity, contrast sensitivity and stereopsis, a visual attention test (the useful field of view test and a cognitive test (the Mini-Mental State Examination. Driver self-regulation practices were collected using the Driving Habits Questionnaire and were also measured with an in-vehicle monitoring device. Characteristics of self-regulators and non-self-regulators were compared and a logistic regression model was used to examine the association between 3 objective visual measures and driver self-regulation status.Results: After controlling for potential confounding factors, only binocular contrast sensitivity (p=0.01, age (p=0.03 and gender (p=0.03 were significantly associated with driver self-regulation status. The odds of participants with better contrast sensitivity scores (better vision self-regulating their driving in at least 1 driving situation decreased (odds ratio [OR]: 0.01, 95% CI: 0.00–0.28 while those of increasing age reported an increased odds of self-regulating their driving (OR: 1.08, 95% CI: 1.01–1.15. The odds of males self-regulating their driving was decreased compared with females (OR: 0.28, 95% CI: 0.09

  7. Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

    Science.gov (United States)

    Martin, Elodie; Schüle, Rebecca; Smets, Katrien; Rastetter, Agnès; Boukhris, Amir; Loureiro, José L; Gonzalez, Michael A; Mundwiller, Emeline; Deconinck, Tine; Wessner, Marc; Jornea, Ludmila; Oteyza, Andrés Caballero; Durr, Alexandra; Martin, Jean-Jacques; Schöls, Ludger; Mhiri, Chokri; Lamari, Foudil; Züchner, Stephan; De Jonghe, Peter; Kabashi, Edor; Brice, Alexis; Stevanin, Giovanni

    2013-02-07

    Spastic paraplegia 46 refers to a locus mapped to chromosome 9 that accounts for a complicated autosomal-recessive form of hereditary spastic paraplegia (HSP). With next-generation sequencing in three independent families, we identified four different mutations in GBA2 (three truncating variants and one missense variant), which were found to cosegregate with the disease and were absent in controls. GBA2 encodes a microsomal nonlysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide to free glucose and ceramide and the hydrolysis of bile acid 3-O-glucosides. The missense variant was also found at the homozygous state in a simplex subject in whom no residual glucocerebrosidase activity of GBA2 could be evidenced in blood cells, opening the way to a possible measurement of this enzyme activity in clinical practice. The overall phenotype was a complex HSP with mental impairment, cataract, and hypogonadism in males associated with various degrees of corpus callosum and cerebellar atrophy on brain imaging. Antisense morpholino oligonucleotides targeting the zebrafish GBA2 orthologous gene led to abnormal motor behavior and axonal shortening/branching of motoneurons that were rescued by the human wild-type mRNA but not by applying the same mRNA containing the missense mutation. This study highlights the role of ceramide metabolism in HSP pathology. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  8. Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.

    Science.gov (United States)

    Suh, Bum Chun; Hong, Young Bin; Nakhro, Khriezhanuo; Nam, Soo Hyun; Chung, Ki Wha; Choi, Byung-Ok

    2014-02-01

    Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disease characterized by prominent sensory impairment, resulting in foot ulcers or amputations and has a juvenile to adult onset. The major underlying causes of HSAN I are mutations in SPTLC1, which encodes the first subunit of serine palmitoyltransferase (SPT). To date, there have been no reports with regard to an HSAN patient of Korean origin. In this report we discussed an HSAN I patient with a missense mutation in SPTLC1 (c.992C>T: p.S331F). The patient had noticed frequent falls, lower leg weakness and hand tremors at age five. The patient also presented with foot ulcers, muscle hypotrophy, cataracts, hoarseness, vocal cord palsy and respiratory difficulties and succumbed to the condition at the age of 28 years. In accordance with previous reports, a mutation in Ser331 in the present patient was associated with early-onset and a severe phenotype. Therefore, Ser331 in SPTLC1 is a crucial amino acid, which characterizes the HSAN I phenotype.

  9. Femtosecond laser-assisted cataract surgery with bimanual technique: learning curve for an experienced cataract surgeon.

    Science.gov (United States)

    Cavallini, Gian Maria; Verdina, Tommaso; De Maria, Michele; Fornasari, Elisa; Volpini, Elisa; Campi, Luca

    2017-11-29

    To describe the intraoperative complications and the learning curve of microincision cataract surgery assisted by femtosecond laser (FLACS) with bimanual technique performed by an experienced surgeon. It is a prospective, observational, comparative case series. A total of 120 eyes which underwent bimanual FLACS by the same experienced surgeon during his first experience were included in the study; we considered the first 60 cases as Group A and the second 60 cases as Group B. In both groups, only nuclear sclerosis of grade 2 or 3 was included; an intraocular lens was implanted through a 1.4-mm incision. Best-corrected visual acuity (BCVA), surgically induced astigmatism (SIA), central corneal thickness and endothelial cell loss (ECL) were evaluated before and at 1 and 3 months after surgery. Intraoperative parameters, and intra- and post-operative complications were recorded. In Group A, we had femtosecond laser-related minor complications in 11 cases (18.3%) and post-operative complications in 2 cases (3.3%); in Group B, we recorded 2 cases (3.3%) of femtosecond laser-related minor complications with no post-operative complications. Mean effective phaco time (EPT) was 5.32 ± 3.68 s in Group A and 4.34 ± 2.39 s in Group B with a significant difference (p = 0.046). We recorded a significant mean BCVA improvement at 3 months in both groups (p  0.05). Finally, we found significant ECL in both groups with a significant difference between the two groups (p = 0.042). FLACS with bimanual technique and low-energy LDV Z8 is associated with a necessary initial learning curve. After the first adjustments in the surgical technique, this technology seems to be safe and effective with rapid visual recovery and it helps surgeons to standardize the crucial steps of cataract surgery.

  10. Anti-Cataract Potential of Heliotropium indicum Linn on Galactose-Induced Cataract in Sprague-Dawley Rats.

    Science.gov (United States)

    Kyei, Samuel; Koffuor, George A; Ramkissoon, Paul; Abu, Emmanuel K; Sarpong, Josephine F

    2017-03-01

    To evaluate the anti-cataract potential of an aqueous whole plant extract of Heliotropium indicum (HIE) on galactose-induced cataract in Sprague-Dawley rats. Cataract scores were recorded in 3-week-old Sprague-Dawley rats in which cataract was being induced by an oral administration of 1500 mgkg -1 galactose twice daily for 4 weeks, and concurrently being treated with 30, 100, or 300 mgkg -1 HIE daily over the induction period. Fasting blood glucose was monitored at weekly intervals. Changes in body weight as well as total lens protein, lens glutathione, and superoxide dismutase (SOD) were determined initially, and at the end of the experimental period. Crystalline lens weight-to-body-weight ratio was also determined for the various treatment groups at the end of the experimental period. Preliminary phytochemical screening, total antioxidant capacity, and reducing power assays were conducted on HIE. The 30 and 100 mgkg -1 HIE-treated rats recorded significantly lower (p ≤ 0.05-0.001) cataract scores (indicating very significant delays in cataractogenesis by the 3 rd and 4 th weeks of treatment) and blood glucose levels. Rats with delayed cataractogenesis also exhibited significant (p ≤ 0.05-0.001) weight gain, and reduction in lens weight. Total lens proteins glutathione and SOD levels in the crystalline lens were also significantly preserved (p ≤ 0.01-0.001). HIE showed substantial antioxidant capacity and reducing power. The aqueous whole plant extract of Heliotropium indicum delays cataractogenesis at an optimum dose of 30 mgkg -1 in Sprague-Dawley rats.

  11. Evaluation of antioxidants and argpyrimidine in normal and cataractous lenses in north Indian population

    Directory of Open Access Journals (Sweden)

    Bharani K Mynampati

    2017-07-01

    Full Text Available AIM: To assess the level of glutathione, thioltransferase, and argpyrimidine in nuclear and cortical cataractous lenses as well as in the clear lenses in the north Indian population. METHODS: Human cataractous lenses were collected from the patients who underwent extracapsular cataract extraction surgery; clear lenses were collected from the freshly donated eye bank eyes. Antioxidant molecules such as glutathione and thioltransferase enzyme activity were measured; simultaneously in these lenses a blue fluorophore argpyrimidine, an advanced glycation end (AGE product level was assessed using high performance liquid chromatography (HPLC. RESULTS: The protein concentration was found to be present at higher levels in the control lenses compared to cataract lenses. A significant decrease in the glutathione level was observed in the nuclear cataractous lenses compared to cortical cataractous (P=0.004 and clear lenses (P≤0.005, but no significant change in the level of antioxidant enzyme thioltransferase was observed. Further, argpyrimidine a blue fluorophore (AGE was found to be significantly higher in the nuclear cataract (P=0.013 compared to cortical cataract lenses. CONCLUSION: Antioxidants such as glutathione significantly decrease in age-related nuclear and cortical cataract and an AGE, argpyrimidine are present at significantly higher levels in nuclear cataract.

  12. [Analysis of cataract surgical rate and its influencing factors in Shanghai, China].

    Science.gov (United States)

    Zhu, Ming-ming; Zhu, Jian-feng; Zou, Hai-dong; He, Xian-gui; Zhao, Rong; Lu, Li-na

    2013-12-17

    To explore the cataract surgical rate (CSR) of Shanghai from 2006 to 2012 and examine its influencing factors. As of 2003, a cataract surgery registration form had been filled by physicians after every cataract surgery in Shanghai. The local eye disease prevention team then entered the relevant information into the Shanghai Cataract Operations Database. Based upon this database, CSR of Shanghai was calculated. And the number of cataract surgeries was compared between Shanghai urban and suburban districts as well as among different medical institutions. The overall CSR in Shanghai increased from 1741 in 2006 to 2313 in 2012. In 2012, CSR in urban districts reached 6013 while it stood at 460 and 584 in inner and outer suburb districts respectively. The number of hospitals performing cataract surgery in urban districts was much more than that in suburbs. And the average number of cataract surgeries per hospital per year in suburbs was only one third of that (748 cases) in urban areas. The number of cataract surgeries at in private hospitals increased rapidly during the past 7 years. The number of 1921 cases was nearly twice as many as that at tertiary hospitals in 2012. Phacoemulsification surgery was the most popular surgical choice for cataract removal, accounting for 98.40% of total cataract surgeries in 2012. Until 2012, CSR in Shanghai dropped below the target of World Health Organization (WHO). A low level of CSR in suburbs is a major influencing factor for the overall level of CSR in Shanghai.

  13. [Femtosecond laser in cataract surgery. A critical appraisal].

    Science.gov (United States)

    Menapace, R M; Dick, H B

    2014-01-01

    The use of femtosecond lasers (FSL) is increasingly spreading in cataract surgery. Potential advantages over standard manual cataract surgery are the superior precision of corneal incisions and capsular openings as well as the reduction of ultrasound energy for lens nucleus work-up. Exact positioning and dimensioning of the anterior capsular opening should help reduce decentration and tilt of the intraocular lens (IOL) optics and thus achieve better target refraction. Together with the possibility to correct low-grade corneal astigmatism by precise arcuate incision, FSL technology is expected to convert cataract surgery from a purely curative into a refractive procedure. Apart from own experiences this review article critically analyses the pertinent literature published so far as well as congress presentations and personal reports of other FSL surgeons. The advantages and disadvantages are scrutinized with regard to their impact on the surgical and refractive results and compared with those experienced by the authors with manual cataract surgery over several decades. Economic and healthcare political aspects are also addressed. The use of FSL surgery improves the precision and reproducibility of corneal incisions and the capsular opening and reduces the amount of ultrasound energy required for lens nucleus work-up. However, the clinical benefits must be put into perspective due to the subsequent surgical manipulation of the incisions (during lens emulsification, aspiration and IOL injection), the lacking possibility to visualize the crystalline lens equator as the reference for correct capsulotomy centration and the relativity of ultrasound energy consumption on the corneal endothelial trauma. This is of particular relevance against the background of the significantly higher costs. Conversely, tears of the anterior capsule edge which, apart from interfering with correct IOL positioning, may entail serious complications presently occur more frequently with all FSL

  14. Sub-Tenon's anaesthesia versus topical anaesthesia for cataract surgery.

    Science.gov (United States)

    Guay, Joanne; Sales, Karl

    2015-08-27

    Local anaesthesia for cataract surgery can be provided by sub-Tenon's or topical anaesthesia. Both techniques offer possible advantages. This review, which originally was published in 2007 and was updated in 2014, was undertaken to compare these two anaesthetic techniques. Our objectives were to compare the effectiveness of topical anaesthesia (with or without intracameral local anaesthetic) versus sub-Tenon's anaesthesia in providing pain relief during cataract surgery. We reviewed pain during administration of anaesthesia, postoperative pain, surgical satisfaction with operating conditions and patient satisfaction with pain relief provided, and we looked at associated complications. We searched the Cochrane Central Register of Controlled Trials, MEDLINE and EMBASE (last search in November 2014) and the reference lists of published articles. We looked for conferences abstracts and trials in progress and placed no constraints on language or publication status. We included all randomized studies that compared sub-Tenon's anaesthesia versus topical anaesthesia for cataract surgery. We assessed trial quality and extracted data in the format allowing maximal data inclusion. We included eight studies in this updated review but could retain in the analysis only seven studies on 742 operated eyes of 617 participants. Two cross-over trials included 125 participants, and five parallel trials included 492 participants. These studies were published between 1997 and 2005. The mean age of participants varied from 71.5 years to 83.5 years. The female proportion of participants varied from 54% to 76%. Compared with sub-Tenon's anaesthesia, topical anaesthesia (with or without intracameral injection) for cataract surgery increases intraoperative pain but decreases postoperative pain at 24 hours. The amplitude of the effect (equivalent to 1.1 on a score from 0 to 10 for intraoperative pain, and to 0.2 on the same scale for postoperative pain at 24 hours), although statistically

  15. Phacoemulsification in eyes with cataract and pseudoexfoliation syndrome

    Directory of Open Access Journals (Sweden)

    Servet Cetinkaya

    2016-06-01

    Full Text Available AIM: To evaluate the visual outcomes and intraoperative and postoperative complications of phacoemulsification surgery in patients with cataract and pseudoexfoliation syndrome(PEXand the usage of proper surgical techniques and appropriate devices intraoperatively.METHODS: Sixty-seven eyes of 53 patients with PEX and cataract who had undergone phacoemulsification and intraocular lens(IOLimplantation surgery were evaluated retrospectively. The mean age was 71.68±9.96(53-89y, and there were 24(45%males and 29(55%females. Nuclear, cortical, posterior subcapsular, and mature cataracts were all represented.RESULTS: Nuclear cataract was significantly more common than other types(P=0.00. The mean preoperative best corrected visual acuity(BCVAwas 0.99±0.30(SD(0.40-1.50logMAR, and the mean postoperative BCVA was 0.32±0.31(SD(0.00-1.00logMAR(P=0.00. Iris retractors were used in 12(18%eyes. Capsular tension ring(CTRimplantation was used in 15(22%eyes, it was planned in 8(12%and unplanned in 7(10%. Posterior capsule rupture occurred in 4(6%eyes, and vitreous loss occurred in 2(3%eyes. Anterior vitrectomy was performed in these 2 eyes. Conversion to extracapsular cataract extraction(ECCEwas needed in these 2(3%eyes due to large posterior capsular rupture. Persistent corneal edema was observed in 4(6%eyes, and anterior chamber reaction in 5(7%eyes. IOL dislocation occurred in 4(6%eyes, but repositioning was only needed in 1(1.5%eye. Posterior capsule opacification(PCOrequiring Nd:YAG laser capsulotomy developed in 13(20%eyes.CONCLUSION: Postoperative visual acuities of patients with cataract and PEX are satisfactory. However, intraoperative and postoperative complications like posterior capsule rupture, vitreous loss, conversion to ECCE, persistent corneal edema, anterior chamber reaction and IOL dislocation may be observed. To avoid these complications, proper surgical techniques and the use of appropriate devices intraoperatively are essential.

  16. Strabismus and Nystagmus Following Cataract Surgeries in Childhood

    Directory of Open Access Journals (Sweden)

    Ayşe Yeşim Oral

    2012-03-01

    Full Text Available Pur po se: To evaluate the incidence of strabismus in pediatric cataracts and the effects of strabismus and nystagmus accompanied by cataract on postoperative visual acuity. Ma te ri als and Met hod: Seventy-four eyes of 45 patients under 15 years old who had undergone cataract operation were included in this study. The mean postoperative follow-up period was 1.57±2.25 years (ranged between 3 months and 9 years. Twenty-nine of the patients (64% had bilateral and 16 of the patients (36% had unilateral cataract. Preoperative and postoperative visual acuities, as well as the presence of nystagmus and strabismus were recorded. Re sults: Seventeen of the patients (38% had strabismus: 9 of them (53% had esotropia (ET, and 8 of them had (47% exotropia (XT. Fourteen (19% of the total number of cases had nystagmus. The mean age was 5.8±4.4 years for the total group of patients, 4.6±3.0 years for patients with strabismus and 5.1±3.7 years for patients with nystagmus. Visual acuity measurements were not possible in 26 uncooperative patients. The visual acuity was 0.3 logMAR and over in 15 (31% and 1.0 logMAR and under in 12 (25% of the remaining of 48 eyes. Of a total of 28 eyes with strabismus, we were unable to measure visual acuity in 10 patients, and the visual acuities were 0.3 logMAR and over in 7 (39% and 1.0 logMAR and under in 5 (28% of the rest of the 18 patients. The mean visual acuity was significantly lower in the 8 of 14 patients with nystagmus whose visual acuity could be measured (1.25±0.45 logMAR than in both the patients without strabismus (0.44±0.59 logMAR and the patients with strabismus (0.66±0.56 logMAR (p=0.019 and p=0.015, respectively. Dis cus si on: Although strabismus is seen more often in childhood cataracts compared to general population, the presence of strabismus has no negative effect on visual acuity after cataract surgery, while nystagmus is the main factor limiting the visual outcome. (Turk J Ophthalmol 2012; 42

  17. Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Kjeldsen, A D; Kjeldsen, J

    2000-01-01

    Gastrointestinal bleeding occurs in a number of patients with hereditary hemorrhagic telangiectasia (HHT) and may lead to a high transfusion need. The aim of this study was to estimate the occurrence and severity of gastrointestinal bleeding in a geographically well defined HHT population....

  18. A role for MLH3 in hereditary nonpolyposis colorectal cancer

    NARCIS (Netherlands)

    Wu, Y; Berends, MJW; Sijmons, RH; Mensink, RGJ; Verlind, E; Kooi, KA; van der Sluis, T; Kempinga, C; van der Zee, AGJ; Hollema, H; Buys, CHCM; Kleibeuker, JH; Hofstra, RMW

    2001-01-01

    We investigated a possible role of the mismatch-repair gene MLH3 in hereditary nonpolyposis colorectal cancer by scanning for mutations in 39 HNPCC families and in 288 patients suspected of having HNPCC. We identified ten different germline MLH3 variants, one frameshift and nine missense mutations,

  19. Hereditary hemochromatosis: genetic complexity and new diagnostic approaches.

    NARCIS (Netherlands)

    Swinkels, D.W.; Janssen, M.C.H.; Bergmans, J.; Marx, J.J.M.

    2006-01-01

    Since the discovery of the hemochromatosis gene (HFE) in 1996, several novel gene defects have been detected, explaining the mechanism and diversity of iron-overload diseases. At least 4 main types of hereditary hemochromatosis (HH) have been identified. Surprisingly, genes involved in HH encode for

  20. Alterations of red blood cell metabolome in overhydrated hereditary stomatocytosis.

    NARCIS (Netherlands)

    Darghouth, D.; Koehl, B.; Heilier, J.F.; Madalinski, G.; Bovee, P.H.; Bosman, G.J.C.G.M.; Delaunay, J.; Junot, C.; Romeo, P.H.

    2011-01-01

    Overhydrated hereditary stomatocytosis, clinically characterized by hemolytic anemia, is a rare disorder of the erythrocyte membrane permeability to monovalent cations, associated with mutations in the Rh-associated glycoprotein gene. We assessed the red blood cell metabolome of 4 patients with this

  1. Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis

    DEFF Research Database (Denmark)

    Joergensen, Maiken T; Geisz, Andrea; Brusgaard, Klaus

    2011-01-01

    In a hereditary pancreatitis family from Denmark, we identified a novel intragenic duplication of 9 nucleotides in exon-2 of the human cationic trypsinogen (PRSS1) gene (c.63_71dup) which at the amino-acid level resulted in the insertion of 3 amino acids within the activation peptide of cationic...

  2. Hereditary Angioedema - Consequences of a New Treatment Paradigm in Denmark

    DEFF Research Database (Denmark)

    Bygum, Anette

    2014-01-01

    stopped long-term prophylaxis with danazol or tranexamic acid and changed treatment regimen to on-demand treatment with C1 inhibitor concentrate or icatibant. At least 10% of the attacks remained un-treated. More than half of the patients felt that hereditary angioedema had a significant psychological...

  3. On the many faces of Leber hereditary optic neuropathy

    NARCIS (Netherlands)

    Oostra, RJ; Tijmes, NT; Cobben, JM; Bolhuis, PA; vanNesselrooij, BPM; Houtman, WA; deKokNazaruk, MM; BleekerWagemakers, EM

    Leber hereditary optic neuropathy (LHON) is a maternally inherited disorder, associated with mutations in the mitochondrial DNA, which is notorious for its aspecific presentations. Two pedigrees are described with cases that are atypical for LHON with respect to sex, age of onset, interval between

  4. On the many faces of Leber hereditary optic neuropathy

    NARCIS (Netherlands)

    Oostra, R. J.; Tijmes, N. T.; Cobben, J. M.; Bolhuis, P. A.; van Nesselrooij, B. P.; Houtman, W. A.; de Kok-Nazaruk, M. M.; Bleeker-Wagemakers, E. M.

    1997-01-01

    Leber hereditary optic neuropathy (LHON) is a maternally inherited disorder, associated with mutations in the mitochondrial DNA, which is notorious for its aspecific presentations. Two pedigrees are described with cases that are atypical for LHON with respect to sex, age of onset, interval between

  5. RB1 mutations and second primary malignancies after hereditary retinoblastoma

    NARCIS (Netherlands)

    Dommering, Charlotte J.; Marees, Tamara; van der Hout, Annemarie H.; Imhof, Saskia M.; Meijers-Heijboer, Hanne; Ringens, Peter J.; van Leeuwen, Flora E.; Moll, Annette C.

    2012-01-01

    Survivors of hereditary retinoblastoma have a high risk of second primary malignancies, but it has not been investigated whether specific RB1 germline mutations are associated with greater risk of second primary malignancies in a large cohort. We conducted a retrospective cohort study of 199

  6. RB1 mutations and second primary malignancies after hereditary retinoblastoma

    NARCIS (Netherlands)

    Dommering, Charlotte J.; Marees, Tamara; van der Hout, Annemarie H.; Imhof, Saskia M.; Meijers-Heijboer, Hanne; Ringens, Peter J.; van Leeuwen, Flora E.; Moll, Annette C.

    Survivors of hereditary retinoblastoma have a high risk of second primary malignancies, but it has not been investigated whether specific RB1 germline mutations are associated with greater risk of second primary malignancies in a large cohort. We conducted a retrospective cohort study of 199

  7. Leber's hereditary optic neuropathy and vitamin B12 deficiency

    NARCIS (Netherlands)

    Pott, Jan Willem R.; Wong, Kwok H.

    2006-01-01

    Background: Leber's hereditary optic neuropathy (LHON) is a maternally inherited optic neuropathy caused by mutations in mitochondrial DNA (mtDNA). It is also believed that several epigenetic factors have an influence on the development of LHON. Methods: A case series was observed. Results: Three

  8. Visual Rehabilitation of Persons with Leber's Hereditary Optic Neuropathy.

    Science.gov (United States)

    Rudanko, S.-L.

    1995-01-01

    This article presents results of a noncontrolled clinical study of 20 persons with Leber's hereditary optic neuropathy who were treated from 1976 to 1990 at the Low Vision Centre of the Finnish Federation of the Visually Handicapped. The importance of early functional visual rehabilitation is emphasized, as is the use of low vision aids to help…

  9. Motor activation in SPG4-linked hereditary spastic paraplegia

    DEFF Research Database (Denmark)

    Scheuer, KH; Nielsen, JE; Krabbe, Katja

    2006-01-01

    OBJECTIVE: The aim of this study was to investigate the extent of motor cortical functional reorganisation in patients with SPG4-linked hereditary spastic paraplegia by exploring cortical motor activation related to movements of clinically affected (lower) and unaffected (upper) limbs. METHODS: T...

  10. Sulindac treatment in hereditary non-pollyposis colorectal cancer

    NARCIS (Netherlands)

    Rijcken, Fleur E. M.; Hollema, Harry; van der Zee, Ate G. J.; van der Sluis, Tineke; Ek, Wytske Boersma-van; Kleibeuker, Jan H.

    Non-steroidal anti-inflammatory drugs, e.g. sulindac have been extensively studied for chemoprevention in familial adenomatous polyposis, but not in hereditary non-polyposis colorectal cancer (HNPCC). We evaluated these effects in HNPCC using surrogate end-points for cancer risk. In a randomised

  11. Hereditary breast cancer: from molecular pathology to tailored therapies.

    Science.gov (United States)

    Tan, D S P; Marchiò, C; Reis-Filho, J S

    2008-10-01

    Hereditary breast cancer accounts for up to 5-10% of all breast carcinomas. Recent studies have demonstrated that mutations in two high-penetrance genes, namely BRCA1 and BRCA2, are responsible for about 16% of the familial risk of breast cancer. Even though subsequent studies have failed to find another high-penetrance breast cancer susceptibility gene, several genes that confer a moderate to low risk of breast cancer development have been identified; moreover, hereditary breast cancer can be part of multiple cancer syndromes. In this review we will focus on the hereditary breast carcinomas caused by mutations in BRCA1, BRCA2, Fanconi anaemia (FANC) genes, CHK2 and ATM tumour suppressor genes. We describe the hallmark histological features of these carcinomas compared with non-hereditary breast cancers and show how an accurate histopathological diagnosis may help improve the identification of patients to be screened for mutations. Finally, novel therapeutic approaches to treat patients with BRCA1 and BRCA2 germ line mutations, including cross-linking agents and PARP inhibitors, are discussed.

  12. Study of glycolytic intermediates in hereditary elliptocytosis with thalassemia

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    Pavri Roshan

    1977-01-01

    Full Text Available Glycolytic intermediates like ATP, DPG and GSH have been studied in a family with. hereditary elliptocytosis and thalassemia. Results indicate a fall in ATP with a concomitant rise in DPG in the Patient. Findings are discussed in relation to other data.

  13. RECRUITMENT OF PATIENTS WITH HEREDITARY HAEMOCHROMATOSIS AS BLOOD DONORS

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    Marko Cukjati

    2004-12-01

    Full Text Available Background. Hereditary haemochromatosis is the most common inherited disorder in white persons with prevalence of about 1 in 200. Therapeutic phlebotomy is an effective treatment for the disease and prevents its sequele. In addition to their altruism, patients with hereditary haemochromatosis have also medical and monetary incentives for blood donation. Current guidelines do not allow haemochromatosis patients to donate blood. About two thirds of patients are eligible as blood donors and about two thirds of therapeutically drawn blood is suitable for transfusion. Therapeutically drawn blood could increase the blood supply by 1.5 to 30%.Conclusions. The number of states that already accept patients with hereditary haemochromatosis as blood donors is increasing. To avoid monetary incentives they offer free phlebotomies for all patients with hereditary haemochromatosis. There have been no reports about higher incidence of transfusion reactions. In Slovenia the number of therapeutic phlebotomy is increasing. We should evaluate the possibilities for recruitment of haemochromatosis patients as blood donors also in our country. It is necessary to modify regulatory restrictions and to ensure that there is no other incentives than altruism for blood donation.

  14. An ABC of the Warning Signs of Hereditary Angioedema

    DEFF Research Database (Denmark)

    Grumach, Anete Sevciovic; Ferraroni, Natasha; Olivares, Maria Margarita

    2017-01-01

    Hereditary angioedema (HAE) with C1 inhibitor deficiency is a genetic disorder that clinically manifests with attacks of angioedema in the subcutaneous and submucosal tissues, mainly in the extremities, abdomen, and upper airway. During attacks, vascular permeability is increased due to increased...

  15. Genetics and ionizing radiations. 1. Genetics and hereditary diseases

    International Nuclear Information System (INIS)

    Dutrillaux, B.

    1980-01-01

    The desoxyribonucleic acid (DNA) is the chemical vehicle of heredity. Each hereditary character is determined by a short segment of the DNA molecule called gene. Gene operations are governed by regulating systems. The DNA is located in the chromosomes, easily analysed by light microscopy. The chromosome number and form are fairly characteristic of a species. Ours has 46 chromosomes, i.e. 23 pairs. Anomalies of the hereditary stock can be qualitative: affecting one gene they are expressed by diversely serious diseases. They can be quantitative and bear on the lack or excess of a chromosome or a segment of chromosome; most often, resulting diseases are very serious; Downs's syndrome is a well-known example. The various modes of transmission of these hereditary characters are analysed. The change of a chromosome or a gene from a normal to an abnormal form is called a mutation. It occurs scarcely, but the effects of mutations accumulate. At birth, nearly 10% of children should have one abnormal hereditary character at least, however most of these characters do not induce a true disease. Anomalies are more frequent at conception, many abnormal embryos or foetuses being aliminated by miscarriages [fr

  16. Hereditary Ovarian Cancer: Not Only BRCA 1 and 2 Genes

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    Angela Toss

    2015-01-01

    Full Text Available More than one-fifth of ovarian tumors have hereditary susceptibility and, in about 65–85% of these cases, the genetic abnormality is a germline mutation in BRCA genes. Nevertheless, several other suppressor genes and oncogenes have been associated with hereditary ovarian cancers, including the mismatch repair (MMR genes in Lynch syndrome, the tumor suppressor gene, TP53, in the Li-Fraumeni syndrome, and several other genes involved in the double-strand breaks repair system, such as CHEK2, RAD51, BRIP1, and PALB2. The study of genetic discriminators and deregulated pathways involved in hereditary ovarian syndromes is relevant for the future development of molecular diagnostic strategies and targeted therapeutic approaches. The recent development and implementation of next-generation sequencing technologies have provided the opportunity to simultaneously analyze multiple cancer susceptibility genes, reduce the delay and costs, and optimize the molecular diagnosis of hereditary tumors. Particularly, the identification of mutations in ovarian cancer susceptibility genes in healthy women may result in a more personalized cancer risk management with tailored clinical and radiological surveillance, chemopreventive approaches, and/or prophylactic surgeries. On the other hand, for ovarian cancer patients, the identification of mutations may provide potential targets for biologic agents and guide treatment decision-making.

  17. The neuropathology of hereditary congenital facial palsy vs Mobius syndrome.

    NARCIS (Netherlands)

    Verzijl, H.T.F.M.; Zwaag, B. van der; Lammens, M.M.Y.; Donkelaar, H.J. ten; Padberg, G.W.A.M.

    2005-01-01

    OBJECTIVE: To characterize the neuropathology of hereditary congenital facial palsy. METHODS: The authors compared brainstem pathology of three members of one family with autosomal dominant congenital facial palsy to that in three age-matched controls. The neuropathologic findings of the familial

  18. Hereditary hemochromatosis and risk of ischemic heart disease

    DEFF Research Database (Denmark)

    Ellervik, Christina; Tybjaerg-Hansen, Anne; Grande, Peer

    2005-01-01

    BACKGROUND: We tested the hypothesis that the hereditary hemochromatosis genotypes C282Y/C282Y, C282Y/H63D, or C282Y/wild-type are risk factors for ischemic heart disease (IHD) and myocardial infarction (MI). METHODS AND RESULTS: We performed a prospective study of 9178 individuals from the Danish...

  19. Friedreich's ataxia mimicking hereditary motor and sensory neuropathy.

    Science.gov (United States)

    Panas, Marios; Kalfakis, Nikolaos; Karadima, Georgia; Davaki, Panagiota; Vassilopoulos, Demetris

    2002-11-01

    Four patients from three unrelated families, with clinical and electrophysiological findings compatible with the diagnosis of hereditary motor and sensory neuropathy, are presented. The molecular analysis showed that the affected individuals were homozygous for the mutation in the X25 gene, characteristic of Friedreich's ataxia. These patients seem to represent a form of Friedreich's ataxia mimicking Charcot-Marie-Tooth disease.

  20. First and second eye cataract surgery and driver self-regulation among older drivers with bilateral cataract: a prospective cohort study.

    Science.gov (United States)

    Agramunt, Seraina; Meuleners, Lynn B; Fraser, Michelle L; Chow, Kyle C; Ng, Jonathon Q; Raja, Vignesh

    2018-02-17

    Driving a car is the most common form of transport among the older population. Common medical conditions such as cataract, increase with age and impact on the ability to drive. To compensate for visual decline, some cataract patients may self-regulate their driving while waiting for cataract surgery. However, little is known about the self-regulation practices of older drivers throughout the cataract surgery process. The aim of this study is to assess the impact of first and second eye cataract surgery on driver self-regulation practices, and to determine which objective measures of vision are associated with driver self-regulation. Fifty-five older drivers with bilateral cataract aged 55+ years were assessed using the self-reported Driving Habits Questionnaire, the Mini-Mental State Examination and three objective visual measures in the month before cataract surgery, at least one to three months after first eye cataract surgery and at least one month after second eye cataract surgery. Participants' natural driving behaviour in four driving situations was also examined for one week using an in-vehicle monitoring device. Two separate Generalised Estimating Equation logistic models were undertaken to assess the impact of first and second eye cataract surgery on driver-self-regulation status and which changes in visual measures were associated with driver self-regulation status. The odds of being a self-regulator in at least one driving situation significantly decreased by 70% after first eye cataract surgery (OR: 0.3, 95% CI: 0.1-0.7) and by 90% after second eye surgery (OR: 0.1, 95% CI: 0.1-0.4), compared to before first eye surgery. Improvement in contrast sensitivity after cataract surgery was significantly associated with decreased odds of self-regulation (OR: 0.02, 95% CI: 0.01-0.4). The findings provide a strong rationale for providing timely first and second eye cataract surgery for older drivers with bilateral cataract, in order to improve their mobility and

  1. Organization and Running of the First Comprehensive Hereditary Cancer Clinic in India

    Directory of Open Access Journals (Sweden)

    Rajkumar T

    2005-11-01

    Full Text Available Abstract Hereditary cancers are thought to account for around 5% of cancers, particularly breast/ovarian and colorectal cancers. In India there is a paucity of data on hereditary cancers and the mutations in some of the common genes linked to hereditary cancers, such as BRCA1, BRCA2, hMSH2 and hMLH1. The country's first comprehensive hereditary cancer clinic was established in February 2002. The article describes the organization and running of the Clinic. It also discusses some of the social issues relevant to the given population in running the Hereditary Cancer Clinic.

  2. Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.

    Science.gov (United States)

    Chance, Phillip F

    2006-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP; also called tomaculous neuropathy) is an autosomal-dominant disorder that produces a painless episodic, recurrent, focal demyelinating neuropathy. HNPP generally develops during adolescence, and may cause attacks of numbness, muscular weakness, and atrophy. Peroneal palsies, carpal tunnel syndrome, and other entrapment neuropathies may be frequent manifestations of HNPP. Motor and sensory nerve conduction velocities may be reduced in clinically affected patients, as well as in asymptomatic gene carriers. The histopathological changes observed in peripheral nerves of HNPP patients include segmental demyelination and tomaculous or "sausage-like" formations. Mild overlap of clinical features with Charcot-Marie-Tooth (CMT) disease type 1 (CMT1) may lead patients with HNPP to be misdiagnosed as having CMT1. HNPP and CMT1 are both demyelinating neuropathies, however, their clinical, pathological, and electrophysiological features are quite distinct. HNPP is most frequently associated with a 1.4-Mb pair deletion on chromosome 17p12. A duplication of the identical region leads to CMT1A. Both HNPP and CMT1A result from a dosage effect of the PMP22 gene, which is contained within the deleted/duplicated region. This is reflected in reduced mRNA and protein levels in sural nerve biopsy samples from HNPP patients. Treatment for HNPP consists of preventative and symptom-easing measures. Hereditary neuralgic amyotrophy (HNA; also called familial brachial plexus neuropathy) is an autosomal-dominant disorder causing episodes of paralysis and muscle weakness initiated by severe pain. Individuals with HNA may suffer repeated episodes of intense pain, paralysis, and sensory disturbances in an affected limb. The onset of HNA is at birth or later in childhood with prognosis for recovery usually favorable; however, persons with HNA may have permanent residual neurological dysfunction following attack(s). Episodes are often

  3. Selenite cataract and its attenuation by vitamin E in wistar rats.

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    Mathew Joe

    2003-01-01

    Full Text Available Purpose: To study the role of vitamin E in preventing cataract formation in experimental animals. Methods: An experimental model (selenite cataract was selected for this study. Selenite cataract was produced in rats by subcutaneous administration of sodium selenite. Biochemical and histological changes following induction of selenite cataract in weanling wistar rats were studied vis-à-vis the role of vitamin E in attenuating or preventing cataractogenesis. Results: Vitamin E was capable of preventing selenite cataractogenesis. Selenite cataract did not develop in 91.6% (11 of 12 and 76.7% (8 of 12 vitamin E treated rats, when administered on the 12th and 10th post partum day respectively. Conclusion: The study confirmed that selenite induced cataract in wistar rats is attenuated by vitamin E.

  4. Increasing sustainable cataract services in sub-Saharan Africa: an experimental initiative

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    Sasipriya M Karumanchi

    2015-04-01

    Full Text Available To begin to meet the need for cataract surgery in sub-Saharan Africa, the cataract surgical rate (CSR should be at least 2,000 to 3,000; i.e. there should be 2,000-3,000 cataract operations per million population, per year. The current levels are below 1,000 (and often much lower. Sub-Saharan Africa poses a unique set of challenges: low population density; inadequate transportation systems that inhibit access; big differences in wealth; and a shortage of eye care resources (which are usually concentrated in larger cities. Additional issues relate to productivity, the supply chain and the quality of outcomes, all of which contribute to the low cataract surgical rates. It is in this context that the Hilton Foundation sought to enhance cataract surgical services in sub-Saharan Africa, through the Hilton Cataract Initiative.

  5. DEPLOYMENT OF SIX SIGMA METHODOLOGY IN PHACOEMULSIFICATION CATARACT SURGERY

    Directory of Open Access Journals (Sweden)

    Ibrahim SAHBAZ

    2014-04-01

    Full Text Available The purpose of this study is to show how a public eye care center in Turkey initiated Six Sigma principles to reduce the number of complications encountered during and after phacoemulsification cataract surgeries. To analyze the 3-year data, main tools of Six Sigma’s Define-Measure-Analyze-Improve-Control (DMAIC improvement cycle such as SIPOC table, Fishbone Diagram and, Failure, Mode and Effect Analysis were implemented. Experience of the ophthalmic surgeon, patient’s anatomy, cooperation of patient during the surgery, sterilization and hygiene, attention of assistant surgeon, calibration of equipment and quality/chemical composition of intraocular material were identified to be Critical-to-Quality (CTQ factors for a successful phacoemulsification cataract surgery. The most frequently occurring complication was found to be iris atrophy. The process sigma level for the process was found to be 3.958.

  6. Aspiration of radiation cataract in children of retinoblastoma

    International Nuclear Information System (INIS)

    Kawashima, Hidetoshi; Minoda, Kensei.

    1985-01-01

    We operated on the radiation cataracts of 12 retinoblastoma patients who had been treated by conservative therapeutic means including radiation, cryoapplication, photocoagulation, and cytostatic agents. Before the surgery, we checked that the tumor had disappeared or scarred by means of CT-scan, Ultrasonography, X-ray, and so on. Visual acuity of 1.0 or more was retained in two eyes (17 %). Four eyes (33 %) retained visual acuity of 0.6-0.4, one eye (8 %) retained 0.1 and the remaining five eyes (42 %) had visual acuity of less than 0.1. We experienced no serious complications during or after the surgeries. The reason for poorer visual acuity was either macular involvement of the tumor or radiation retinopathy due to larger dosis of radiation. Therefore, we conclude that aspiration of radiation cataract is an effective treatment of retinoblastoma patients after the tumor has disappeared or scarred. (author)

  7. Visual outcome and impact on quality of life after surgeries differ in children operated for unilateral and bilateral cataract (Pune study 2011

    Directory of Open Access Journals (Sweden)

    Mukesh Paryani

    2012-01-01

    Conclusion: Vision and VQL improved in children with unilateral and bilateral cataract. However, it was better 6 months following surgery in children with bilateral cataract than in children with unilateral cataract.

  8. Is ultrasonography essential before surgery in eyes with advanced cataracts?

    Directory of Open Access Journals (Sweden)

    Salman Amjad

    2006-01-01

    Full Text Available Background: Ultrasonography is an important tool for evaluating the posterior segment in eyes with opaque media. Aim: To study the incidence of posterior segment pathology in eyes with advanced cataract and to see whether certain features could be used as predictors for an abnormal posterior segment on ultrasound. Setting: Tertiary care hospital in South India. Methods and Materials: In this prospective study conducted over a 6-month period, all eyes with dense cataracts precluding visualization of fundus underwent assessment with ultrasound. Presence of certain patient and ocular "risk" factors believed to be associated with a higher incidence of abnormal posterior segment on ultrasound were looked for and the odds ratio (OR for posterior segment pathology in these eyes was calculated. Results: Of the 418 eyes assessed, 36 eyes (8.6% had evidence of posterior segment pathology on ultrasound. Retinal detachment (17 eyes; 4.1% was the most frequent abnormality detected. Among patient features, diabetes mellitus (OR= 4.9, P=0.003 and age below 50 years (OR= 15.4, P=0.001 were associated with a high incidence of abnormal ultrasound scans. In ocular features, posterior synechiae (OR= 20.2, P=0.000, iris coloboma (OR= 34.6, P=0.000, inaccurate projection of rays (OR= 15.1, P=0.002, elevated intraocular pressure (OR= 15.1, P=0.004, and keratic precipitates (OR= 22.4, P=0.004 were associated with high incidence of posterior segment pathology. Only four eyes (1.5% without these features had abnormal posterior segment on ultrasonography. Conclusions: Certain patient and ocular features are indicative of a high risk for posterior segment pathology and such patients should be evaluated by ultrasonography prior to cataract surgery. In the absence of these risk factors, the likelihood of detecting abnormalities on preoperative ultrasonography in eyes with advanced cataracts is miniscule.

  9. Results of endocapsular phacofracture debulking of hard cataracts.

    Science.gov (United States)

    Davison, James A

    2015-01-01

    To present a phacoemulsification technique for hard cataracts and compare postoperative results using two different ultrasonic tip motions during quadrant removal. A phacoemulsification technique which employs in situ fracture and endocapsular debulking for hard cataracts is presented. The prospective study included 56 consecutive cases of hard cataract (LOCS III NC [Lens Opacification Classification System III, nuclear color], average 4.26), which were operated using the Infiniti machine and the Partial Kelman tip. Longitudinal tip movement was used for sculpting for all cases which were randomized to receive longitudinal or torsional/interjected longitudinal (Intelligent Phaco [IP]) strategies for quadrant removal. Measurements included cumulative dissipated energy (CDE), 3 months postoperative surgically induced astigmatism (SIA), and corneal endothelial cell density (ECD) losses. No complications were recorded in any of the cases. Respective overall and longitudinal vs IP means were as follows: CDE, 51.6±15.6 and 55.7±15.5 vs 48.6±15.1; SIA, 0.36±0.2 D and 0.4±0.2 D vs 0.3±0.2 D; and mean ECD loss, 4.1%±10.8% and 5.9%±13.4% vs 2.7%±7.8%. The differences between longitudinal and IP were not significant for any of the three categories. The endocapsular phacofracture debulking technique is safe and effective for phacoemulsification of hard cataracts using longitudinal or torsional IP strategies for quadrant removal with the Infiniti machine and Partial Kelman tip.

  10. Argon laser photocoagulation of cyclodialysis clefts after cataract surgery

    Energy Technology Data Exchange (ETDEWEB)

    Bauer, B. [Univ. of Lund, Dept. of Ophthalmology, Lund (Sweden)

    1995-06-01

    Three patients with cyclodialysis clefts, hypotony and hypotonic retinopathy subsequent to cataract surgery were treated with argon laser photocoagulation. The hypotony was reversed in each patient and their visual acuity was normalized. Laser photocoagulation is a noninvasive treatment that can be repeated easily and safely. The complications of the treatment are minor. A hypertensive episode commonly occurs in the early postoperative period. (au) 8 refs.

  11. Posterior vitreous detachment and retinal detachment after cataract surgery.

    Science.gov (United States)

    Ripandelli, Guido; Coppé, Andrea Maria; Parisi, Vincenzo; Olzi, Diego; Scassa, Cecilia; Chiaravalloti, Adele; Stirpe, Mario

    2007-04-01

    To evaluate possible changes of vitreous status in emmetropic eyes after uneventful phacoemulsification surgery, and possible related complications such as the onset of retinal detachment (RD). Retrospective case series. Four hundred fifty-three emmetropic eyes from 453 patients (mean age, 62.03+/-5.57 years) subjected to uneventful phacoemulsification with intraocular lens implantation in the capsular bag were considered in the study. They had a refractive error within +/-0.5 diopters (mean, -0.21+/-0.08). Eyes with peripheral retinal lattice degeneration were included only if asymptomatic and only if the degeneration involved one retinal quadrant. After cataract surgery, the 453 eyes were evaluated preoperatively at days 1, 15, and 30 and months 3, 6, 12, 18, 24, 36, 48, and 60. The whole period of follow-up was 5 years. Evaluation of vitreous status by biomicroscopic examination, indirect binocular ophthalmoscopy, and B-scan ultrasonography. Postoperative onset of posterior vitreous detachment (PVD) and RD. After cataract surgery, a PVD occurred in 107 of 141 (75.88%) eyes without preoperative PVD or lattice degeneration. Posterior vitreous detachment occurred in 41 of 47 eyes (87.23%) with preoperative lattice degeneration and no PVD. Eyes with preoperative lattice degeneration and postoperative PVD showed a higher incidence of RD after cataract surgery (21.27%) than eyes without preoperative PVD or lattice degeneration (0.70%). In all patients with lattice degeneration, RD originated from horseshoe retinal tears on lattice areas located on the superior quadrants. No correlation was observed between the development of RD and age. Our results suggest that the onset of postoperative PVD should be considered an important risk factor for the development of RD after cataract surgery, particularly in eyes with lattice areas.

  12. Prevalence of myopic shifts among patients seeking cataract surgery

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    Rafael Iribarren

    2013-06-01

    Full Text Available Modern cataract surgery by phacoemulsification is a widely accepted procedure with a rapid recovery time. The prescription of specific intraocular lens, implanted during surgery, makes it possible to anticipate whether the patient will need reading glasses after the procedure. The present study analyses a sample of cataract surgery patients to show the frequency of myopic shifts related to nuclear opacity, which can result in clear near vision before surgery. A non-selected sample of consecutive patients who underwent elective cataract surgery in a private clinic was studied retrospectively. The myopic shift in refraction was assessed by comparing the old prescription with the spectacle correction at the time of interviewing.The mean age of the 229 subjects studied was 71.5 ± 10.4 years (109, 47.6%, males. A myopic shift in refraction, defined as at least - 0.5 diopters, was present in 37.1% of subjects (95% CI: 30.8%-43.4%. The mean change in refraction in these subjects was -2.52 ± 1.52 diopters. The percentage of subjects who had developed a myopic shift was significantly greater in those who presented greater nuclear opalescence. There were also differences in the mean myopic shift by refractive group, with the emmetropes having the greatest myopic shift. In this study of patients seeking cataract surgery in a clinical setting, more than one third had myopic shifts in refraction. This must be taken into account in order that patients maintain the benefit of clear near vision after surgery.

  13. Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.

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    Xiaodong Jiao

    Full Text Available This study was initiated to identify causal mutations responsible for autosomal recessive congenital cataracts in consanguineous familial cases.Affected individuals underwent a detailed ophthalmological and clinical examination, and slit-lamp photographs were ascertained for affected individuals who have not yet been operated for the removal of the cataractous lens. Blood samples were obtained, and genomic DNA was extracted from white blood cells. A genome-wide scan was completed with short tandem repeat (STR markers, and the logarithm of odds (LOD scores were calculated. Protein coding exons of CRYAB were sequenced, bi-directionally. Evolutionary conservation was investigated by aligning CRYAB orthologues, and the expression of Cryab in embryonic and postnatal mice lens was investigated with TaqMan probe.The clinical and ophthalmological examinations suggested that all affected individuals had nuclear cataracts. Genome-wide linkage analysis suggested a potential region on chromosome 11q23 harboring CRYAB. DNA sequencing identified a missense variation: c.34C>T (p.R12C in CRYAB that segregated with the disease phenotype in the family. Subsequent interrogation of our entire cohort of familial cases identified a second familial case localized to chromosome 11q23 harboring a c.31C>T (p.R11C mutation. In silico analyses suggested that the mutations identified in familial cases, p.R11C and p.R12C will not be tolerated by the three-dimensional structure of CRYAB. Real-time PCR analysis identified the expression of Cryab in mouse lens as early as embryonic day 15 (E15 that increased significantly until postnatal day 6 (P6 with steady level of expression thereafter.Here, we report two novel missense mutations, p.R11C and p.R12C, in CRYAB associated with autosomal recessive congenital nuclear cataracts.

  14. Anaesthetic Management for Cataract Surgery in VACTERL Syndrome Case Report

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    Sonal S Khatavkar

    2009-01-01

    Full Text Available Eight year old girl, weighing 14 kg with VACTERL syndrome V: Vertebral anomalies, A: Anal malformation, C: Cardiovascular defect, TE: Tracheal and esophageal malformation, R:Renal agenesis, L: Limb anomalies., underwent cataract surgery under general anaesthesia. She had multiple congenital anomalies like esophageal atresia, imperfo-rate anus (corrected, single kidney& radial aplasia. Anticipating problems of gastro-esophageal reflux& chronic renal failure, successful management was done.

  15. Cirurgia da catarata infantil unilateral Unilateral pediatric cataract surgery

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    Adriana Maria Drummond Brandão

    2008-04-01

    Full Text Available OBJETIVO: Analisar os resultados visuais de uma série de crianças operadas de catarata unilateral. MÉTODOS: Um estudo retrospectivo foi realizado através da análise de 35 prontuários médicos do Serviço de Catarata Congênita da UNIFESP/EPM. RESULTADOS: Quanto à etiologia, a primeira causa de catarata foi idiopática, a segunda causa foi o trauma e a terceira foi a rubéola congênita. Em 51,4% dos olhos tinham acuidade visual pré-operatória de ausência de fixação. E em 42,8% dos casos operados a acuidade visual final foi igual ou melhor que 20/200. DISCUSSÃO: Embora a cirurgia em catarata unilateral seja motivo de controvérsias entre os oftalmologistas, obteve-se melhora de acuidade visual em número significativo de casos.PURPOSE: To analyze the results in a series of children submitted to unilateral cataract surgery. METHODS: A retrospective study was conducted through the analysis of 35 patient files from the Congenital Cataract Service of UNIFESP/EPM. RESULTS: The main cause of unilateral cataract was idiopathic, the second cause was ocular trauma and the third cause was congenital rubella. Initial visual acuity was very poor in 51.4% of the cases (did not fix or follow, and the best corrected final visual acuity was better than 20/200 in 42.8% of the eyes. DISCUSSION: Although controversial, the surgical treatment of unilateral cataract, in this study, showed improvement in many cases.

  16. Effects of vitrectomy combined with cataract surgery on the corneal endothelial cells in diabetic retinopathy

    OpenAIRE

    Lei Zhan; Si-Ying Xiong; Meng-Xin Gan; Li-Hui Wen

    2017-01-01

    AIM: To investigate the effects of vitrectomy combined with cataract surgery on the corneal endothelial cells in diabetic retinopathy. METHODS: A retrospective study was designed. 160 patients(160 eyes)with diabetic retinopathy from Jan 2015 to Feb 2017 were divided into two groups according to cataract. 74 patients(74 eyes)were operated on vitrectomy, and 86 patients(86 eyes)on vitrectomy combined with phacoemulsification cataract surgery and capsular bag implantation of foldable intraocular...

  17. [Increased occurrence of nuclear cataract in the calf after erection of a mobile phone base station].

    Science.gov (United States)

    Hässig, M; Jud, F; Spiess, B

    2012-02-01

    We examined and monitored a dairy farm in which a large number of calves were born with nuclear cataracts after a mobile phone base station had been erected in the vicinity of the barn. Calves showed a 3.5 times higher risk for heavy cataract if born there compared to Swiss average. All usual causes such as infection or poisoning, common in Switzerland, could be excluded. The real cause of the increased incidence of cataracts remains unknown.

  18. Phacoemulsificatıon in eyes wıth cataract and high myopia

    OpenAIRE

    Cetinkaya,Servet; Acir,Nursen Oncel; Cetinkaya,Yasemin Fatma; Dadaci,Zeynep; Yener,Halil İbrahim; Saglam,Faik

    2015-01-01

    ABSTRACTPurpose:To evaluate the outcomes and complications following phacoemulsification surgery in eyes with cataract and high myopia.Methods:We retrospectively evaluated the data of 43 eyes of 28 consecutive patients (12 males, 16 females) with cataract and high myopia who had undergone phacoemulsification and intraocular lens (IOL) implantation. The mean [± standard deviation (range)] age of the patients was 59.20 ± 11.08 (39-77) years.Results:The frequency of nuclear cataract was signific...

  19. Use of intraocular lenses in children with traumatic cataract in south India

    OpenAIRE

    Eckstein, M.; Vijayalakshmi, P; Killedar, M.; Gilbert, C.; Foster, A.

    1998-01-01

    AIMS—To assess the long term results of intraocular lens (IOL) implantation for traumatic cataract in young children in a developing country.
METHODS—Prospective hospital based study of 52 children (age 2-10 years) undergoing unilateral cataract extraction and IOL insertion for traumatic cataract performed by a single surgeon in south India. Children were reviewed regularly and followed up initially for 3 years.
RESULTS—There were no serious operative complications. Clinically significant pos...

  20. Socioeconomic burden of hereditary angioedema: results from the hereditary angioedema burden of illness study in Europe.

    Science.gov (United States)

    Aygören-Pürsün, Emel; Bygum, Anette; Beusterien, Kathleen; Hautamaki, Emily; Sisic, Zlatko; Wait, Suzanne; Boysen, Henrik B; Caballero, Teresa

    2014-07-04

    Hereditary angioedema (HAE) due to C1 inhibitor deficiency is a rare but serious and potentially life-threatening disease marked by spontaneous, recurrent attacks of swelling. The study objective was to characterize direct and indirect resource utilization associated with HAE from the patient perspective in Europe. The study was conducted in Spain, Germany, and Denmark to assess the real-world experience of HAE via a cross-sectional survey of HAE patients, including direct and indirect resource utilization during and between attacks for patients and their caregivers over the past 6 months. A regression model examined predictors of medical resource utilization. Overall, 164 patients had an attack in the past 6 months and were included in the analysis. The most significant predictor of medical resource utilization was the severity of the last attack (OR 2.6; p career/educational advancement. HAE poses a considerable burden on patients and their families in terms of direct medical costs and indirect costs related to lost productivity. This burden is substantial at the time of attacks and in between attacks.

  1. Multicolor pattern scan laser for diabetic retinopathy with cataract

    Institute of Scientific and Technical Information of China (English)

    Takao; Hirano; Yasuhiro; Iesato; Toshinori; Murata

    2014-01-01

    · AIM: To evaluate the ability of various laser wavelengths in delivering sufficient burns to the retina in eyes with cataract using a new multicolor pattern scan laser with green(532 nm), yellow(577 nm), and red(647 nm)lasers.·METHODS: The relationship between the Emery-Little(EL) degree of cataract severity and the laser wavelength required to deliver adequate burns was investigated in102 diabetic eyes. Treatment time, total number of laser shots, and intra-operative pain were assessed as well.·RESULTS: All EL-1 grade eyes and 50% of EL-2 eyes were successfully treated with the green laser, while 50%of EL-2 eyes, 96% of EL-3 eyes, and 50% of EL-4 eyes required the yellow laser. The red laser was effective in the remaining 4% of EL-3 and 50% of EL-4 eyes.·CONCLUSION: Longer wavelength lasers are more effective in delivering laser burns through cataract when we use a multicolor pattern scan laser system.

  2. Simultaneous versus sequential penetrating keratoplasty and cataract surgery.

    Science.gov (United States)

    Hayashi, Ken; Hayashi, Hideyuki

    2006-10-01

    To compare the surgical outcomes of simultaneous penetrating keratoplasty and cataract surgery with those of sequential surgery. Thirty-nine eyes of 39 patients scheduled for simultaneous keratoplasty and cataract surgery and 23 eyes of 23 patients scheduled for sequential keratoplasty and secondary phacoemulsification surgery were recruited. Refractive error, regular and irregular corneal astigmatism determined by Fourier analysis, and endothelial cell loss were studied at 1 week and 3, 6, and 12 months after combined surgery in the simultaneous surgery group or after subsequent phacoemulsification surgery in the sequential surgery group. At 3 and more months after surgery, mean refractive error was significantly greater in the simultaneous surgery group than in the sequential surgery group, although no difference was seen at 1 week. The refractive error at 12 months was within 2 D of that targeted in 15 eyes (39%) in the simultaneous surgery group and within 2 D in 16 eyes (70%) in the sequential surgery group; the incidence was significantly greater in the sequential group (P = 0.0344). The regular and irregular astigmatism was not significantly different between the groups at 3 and more months after surgery. No significant difference was also found in the percentage of endothelial cell loss between the groups. Although corneal astigmatism and endothelial cell loss were not different, refractive error from target refraction was greater after simultaneous keratoplasty and cataract surgery than after sequential surgery, indicating a better outcome after sequential surgery than after simultaneous surgery.

  3. Prevalence of corneal astigmatism before cataract surgery in northeast China

    Directory of Open Access Journals (Sweden)

    Zuo-Feng Guo

    2016-05-01

    Full Text Available AIM:To analyze the prevalence and presentation patterns of corneal astigmatism in cataract surgery candidates of Shenyang in northeast China.METHODS:A retrospective survey was used to study the corneal astigmatism which were measured by intraocular lens(IOLMaster optical biometer before cataract surgery between Jan. 1st, 2014 and Dec. 31st, 2014. Descriptive statistics of corneal astigmatism data were analyzed.RESULTS:The keratometric data from 4 543 eyes from 3 821 patients with a mean age of 66.36±10.38y(SD. In 10.50% of eyes, corneal astigmatism was between 0.5 diopters(Dor less; in 30.05% of eyes, it was 0.5-1.0 D; in 23.60%, it was 1.0-1.5 D; in 13.19%, it was 1.5-2.0 D; in 7.68%, it was 2.0-2.5 D; in 6.41%, it was 2.5-3.0 D; in 8.58%, it was 3.0 D or higher. With-the-rule astigmatism was found in 27.69% of eyes, while against-the-rule was found in 53.84% of eyes.CONCLUSION:About 59.46% of eyes in this study had preoperative corneal astigmatism equal to or above 1.0 D. Findings indicated more surgical techniques or toric intraocular lenses to meet the potential demand of the cataract surgery candidates.

  4. Application of Six Sigma methodology to a cataract surgery unit.

    Science.gov (United States)

    Taner, Mehmet Tolga

    2013-01-01

    The article's aim is to focus on the application of Six Sigma to minimise intraoperative and post-operative complications rates in a Turkish public hospital cataract surgery unit. Implementing define-measure-analyse-improve and control (DMAIC) involves process mapping, fishbone diagrams and rigorous data-collection. Failure mode and effect analysis (FMEA), pareto diagrams, control charts and process capability analysis are applied to redress cataract surgery failure root causes. Inefficient skills of assistant surgeons and technicians, low quality of IOLs used, wrong IOL placement, unsystematic sterilisation of surgery rooms and devices, and the unprioritising network system are found to be the critical drivers of intraoperative-operative and post-operative complications. Sigma level was increased from 2.60 to 3.75 subsequent to extensive training of assistant surgeons, ophthalmologists and technicians, better quality IOLs, systematic sterilisation and air-filtering, and the implementation of a more sophisticated network system. This article shows that Six Sigma measurement and process improvement can become the impetus for cataract unit staff to rethink their process and reduce malpractices. Measuring, recording and reporting data regularly helps them to continuously monitor their overall process and deliver safer treatments. This is the first Six Sigma ophthalmology study in Turkey.

  5. Non-Irritant Baby Shampoos May Cause Cataract Development

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    Omer Faruk Tekbas

    2008-02-01

    Full Text Available BACKGROUND: The effect of different shampoo formulations as a risk factor for cataract formation was investigated in Sprague Dawley rats in the present study. METHODS: Study was performed by using 20 rats. Two different shampoos used by adult subjects and two different baby shampoos were used in the study. Different shampoos were used in different groups for 14 days, and they were followed for changes. RESULTS: Different degree of opacities were observed in 4 (40%, 4 (40%, 5 (50%, and 6 (60% eyes in Groups A, B, C, and D, respectively. There was no statistically significant difference for formation of cataract between the groups (p>0.05. The number of irritated eyes was significantly lower (p<0.05 in groups C (10% and D (20% compared to groups A (90% and B (80%. CONCLUSION: The use of non-irritant baby shampoos does not seem to eliminate the risk of cataract formation and these should even be used more carefully as the non-irritant shampoo will have more contact with the eye. [TAF Prev Med Bull. 2008; 7(1: 1-6

  6. Non-Irritant Baby Shampoos May Cause Cataract Development

    Directory of Open Access Journals (Sweden)

    Omer Faruk Tekbas

    2008-02-01

    Full Text Available BACKGROUND: The effect of different shampoo formulations as a risk factor for cataract formation was investigated in Sprague Dawley rats in the present study. METHODS: Study was performed by using 20 rats. Two different shampoos used by adult subjects and two different baby shampoos were used in the study. Different shampoos were used in different groups for 14 days, and they were followed for changes. RESULTS: Different degree of opacities were observed in 4 (40%, 4 (40%, 5 (50%, and 6 (60% eyes in Groups A, B, C, and D, respectively. There was no statistically significant difference for formation of cataract between the groups (p>0.05. The number of irritated eyes was significantly lower (p<0.05 in groups C (10% and D (20% compared to groups A (90% and B (80%. CONCLUSION: The use of non-irritant baby shampoos does not seem to eliminate the risk of cataract formation and these should even be used more carefully as the non-irritant shampoo will have more contact with the eye. [TAF Prev Med Bull 2008; 7(1.000: 1-6

  7. Change in vision, visual disability, and health after cataract surgery.

    Science.gov (United States)

    Helbostad, Jorunn L; Oedegaard, Maria; Lamb, Sarah E; Delbaere, Kim; Lord, Stephen R; Sletvold, Olav

    2013-04-01

    Cataract surgery improves vision and visual functioning; the effect on general health is not established. We investigated if vision, visual functioning, and general health follow the same trajectory of change the year after cataract surgery and if changes in vision explain changes in visual disability and general health. One-hundred forty-eight persons, with a mean (SD) age of 78.9 (5.0) years (70% bilateral surgery), were assessed before and 6 weeks and 12 months after surgery. Visual disability and general health were assessed by the CatQuest-9SF and the Short Formular-36. Corrected binocular visual acuity, visual field, stereo acuity, and contrast vision improved (P visual acuity evident up to 12 months (P = 0.034). Cataract surgery had an effect on visual disability 1 year later (P visual disability and general health 6 weeks after surgery. Vision improved and visual disability decreased in the year after surgery, whereas changes in general health and visual functioning were short-term effects. Lack of associations between changes in vision and self-reported disability and general health suggests that the degree of vision changes and self-reported health do not have a linear relationship.

  8. Povidone-Iodine Concentration and Dosing in Cataract Surgery.

    Science.gov (United States)

    Koerner, Jagger C; George, Mary J; Meyer, Dale R; Rosco, Michael G; Habib, Matthew M

    2018-05-17

    Iodine has been recognized as an effective bactericide since the 1800's, and povidone-iodine (PI) solution has been applied to the ocular surface and periocular skin since the 1980's to prevent endophthalmitis in cataract surgery. In vitro, PI solution kills bacteria very quickly at dilute concentrations (0.05-1.0%). In many instances, PI kills bacteria more quickly at these dilute concentrations than more conventional (5%-10%) concentrations. This is due to greater availability of diatomic free iodine in dilute solution, the bactericidal component of PI. The toxicity of PI, both in vitro and clinically has been shown to be related to concentration. Current American Academy of Ophthalmology (AAO) and the European Society of Cataract and Refractive Surgeons (ESCRS) recommendations regarding PI use suggest using 5% PI prior to surgery. An alternative dosing strategy uses dilute PI repetitively throughout cataract surgery (0.25% every thirty seconds). We review the povidone-iodine literature with attention to basic science and use of dilute PI. Copyright © 2018 Elsevier Inc. All rights reserved.

  9. Usefulness of surgical complexity classification index in cataract surgery process.

    Science.gov (United States)

    Salazar Méndez, R; Cuesta García, M; Llaneza Velasco, M E; Rodríguez Villa, S; Cubillas Martín, M; Alonso Álvarez, C M

    2016-06-01

    To evaluate the usefulness of surgical complexity classification index (SCCI) to predict the degree of surgical difficulty in cataract surgery. This retrospective study includes data collected between January 2013 and December 2014 from patients who underwent cataract extraction by phacoemulsification at our hospital. A sample size of 159 patients was obtained by simple random sampling (P=.5, 10% accuracy, 95% confidence). The main variables were: recording and value of SCCI in electronic medical record (EMR), presence of exfoliation syndrome (XFS), criteria for inclusion in surgical waiting list (SWL), and functional results. SCCI was classified into 7 categories (range: 1-4) according to predictors of technical difficulty, which was indirectly estimated in terms of surgical time (ST). All statistical analyses were performed using SPSS v15.0 statistical software. Prevalence of XFS was 18.2% (95%CI: 11.9-24.5). In terms of quality indicators in the cataract surgery process, 96.8% of patients met at least one of the criteria to be included in SWL, and 98.1% gained ≥2 Snellen lines. The SCCI was recorded in EMR of 98.1% patients, and it was grouped for study into 2 categories: High and low surgical complexity. Statistically significant differences in the distribution of ST were found depending on the assigned SCCI (Pde Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.

  10. Intraoperative and early postoperative complications of manual sutureless cataract extraction.

    Science.gov (United States)

    Iqbal, Yasir; Zia, Sohail; Baig Mirza, Aneeq Ullah

    2014-04-01

    To determine the intraoperative and early postoperative complications of manual sutureless cataract extraction. Case series. Redo Eye Hospital, Rawalpindi, Pakistan, from January 2009 to December 2010. Three hundred patients of cataract through purposive non-probability sampling were selected. The patients underwent manual sutureless cataract surgery (MSCS) by single experienced surgeon and intraoperative complications were documented. The surgical technique was modified to deal with any intraoperative complications accordingly. Patients were examined on the first postoperative day and on the first postoperative week for any postoperative complications. The data was entered in Statistical Package for Social Sciences (SPSS) version 13.0 and the results were calculated in frequencies. Among the 300 cases, 81.3% surgeries went uneventful whereas 18.6% had some complication. The common intraoperative complications were superior button-hole formation in 5%; posterior capsular rent in 5% and premature entry with iris prolapse in 3% cases. Postoperatively, the commonly encountered complications were striate keratopathy in 9.6% and hyphema 9%. At first week follow-up, 4% had striate keratopathy and 0.6% had hyphema. Striate keratopathy resolved with topical medication on subsequent follow-up. A total of 9 cases (3%) underwent second surgery: 2 cases for lens matter wash, 2 cases for hyphema and 5 cases needed suturing of wound for shallow anterior chamber due to wound leak. Superior button-hole formation, posterior capsular rent and premature entry were the common intraoperative complications of MSCS whereas the common early postoperative complications were striate keratopathy and hyphema.

  11. Cataracts in New World camelids (llamas, alpacas, vicuñas, and guanacos).

    Science.gov (United States)

    Gionfriddo, Juliet R

    2002-05-01

    Cataracts are the most frequently seen lens diseases in New World camelids. The causes of cataracts are unknown in many animals, but cataracts secondary to intraocular inflammation seem to be common. Congenital or juvenile-onset cataracts, if another cause is not apparent, should be considered as possibly caused by heredity, and the affected animals should not be bred. Persistent hyaloid vascular anomalies may also have an important role in cataract formation and could be heritable or caused by an in utero disturbance. Pedigree analyses, test breedings, and possibly DNA studies of llamas with cataracts will be required to determine their potential heritability in these species. Cataract surgery can be done successfully in camelids. It is important to evaluate the posterior segment with B scan ultrasonography before surgery in animals in which the posterior segment previously has not been seen. This evaluation allows the surgeon to better prepare for the presence of hyaloid vascular anomalies. Use of phacoemulsification, gentle tissue handling, liberal use of anti-inflammatory medications and endothelial protectants (BSS + and viscoelastics) during surgery has increased the success rate of this surgery in camelids. Unlike cataract surgery in dogs and horses undergoing, cataract surgery, in camelids seems to be important to remove much of the posterior lens capsule. This removal prevents severe capsular fibrosis and subsequent vision loss. There is evidence that a posterior capsulectomy and anterior viterectomy can help prevent postoperative glaucoma. Research needs to be done to see whether these species have an increased risk for ciliary-block glaucoma.

  12. The aqueous humour antioxidative capacity in different types and color of the age-related cataract

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    Žorić Lepša

    2005-01-01

    Full Text Available Background/Aim. Oxidative stress results from increased oxidative processes, decreased antioxidative protection, or both processes simultaneously. Photooxidative stress, as a form of oxidative stress, induced by the energy of solar radiation, today is considered as crucial in the age-related cataractogenesis. Other known and unknown, endogenous and egsogenous factors that contribute to the oxidative stress intensity, can influence the cataract type and brunescence. Thus the oxidative stress intensity and its form might determine the cataract type and brunescence, and also make the efforts in cataract prevention more complex. Hence, the objective of the present paper was to investigate the current amount of antioxidative capacity in aqueous humour during the cataract genesis of different types and pigmentation of cataract. Methods. Transversal review of 80 samples of humour aqueous obtained during extracapsular cataract extraction. Aqueouses were analyzed by tiobarbituric acid (TBA method for the total antioxidant activity estimation, expressed as %iMDA, and by using 0.1 ml of aqueous. Results. The mixed type of cataract showed the statistically significantly lower values of the intensities of antioxidative protection in aqueous humour compared to cortical and nuclear cataracts (p < 0.001, respectively. Between pure nuclear and cortical cataracts we found the small differences of the investigated parameter, but they pointed to the decreased level of antioxidative protection, i.e. the increased intensity of the aqueous humour oxidative stress in the cortical cataract type. A significant correlation between the cortical cataract maturation and the %iMDA (p < 0.05 was found. Conclusions. The role of the oxidative stress, here expressed as the antioxidative capacity of aqueous humour, could not be the same for all the cataract types. The lower level of antioxidative protection of aqueous in brunescent and mixed cataracts may point to the higher

  13. Effects of two antioxidants; α-lipoic acid and fisetin against diabetic cataract in mice.

    Science.gov (United States)

    Kan, Emrah; Kiliçkan, Elif; Ayar, Ahmet; Çolak, Ramis

    2015-02-01

    The purpose of this study was to determine whether α-lipoic acid and fisetin have protective effects against cataract in a streptozotocin-induced experimental cataract model. Twenty-eight male BALB/C mice were made diabetic by the intraperitoneal administration of streptozotocin (200 mg/kg). Three weeks after induction of diabetes, mice were divided randomly into 4 groups in which each group contained 7 mice; fisetin-treated group (group 1), α-lipoic acid-treated group (group 2), fisetin placebo group (group 3), α-lipoic acid placebo group (group 4). Fisetin and α-lipoic acid were administered intraperitoneally weekly for 5 weeks. Cataract development was assessed at the end of 8 weeks by slit lamp examination, and cataract formation was graded using a scale. All groups developed at least grade 1 cataract formation. In the fisetin-treated group, the cataract stages were significantly lower than in the placebo group (p = 0.02). In the α-lipoic acid-treated group, the cataract stages were lower than in the placebo group but it did not reach to a significant value. Both fisetin and α-lipoic acid had a protective effect on cataract development in a streptozotocin-induced experimental cataract model. The protective effect of fisetin appears as though more effective than α-lipoic acid.

  14. Peculiarity of A-bomb cataract complicated by incipient senile cataract-report of 2 recent cases

    Energy Technology Data Exchange (ETDEWEB)

    Sugimoto, S [Sugimoto Ophthalmic Clinic, Hiroshima (Japan)

    1980-03-01

    Two cases of typical cataract caused by atomic bomb radiation were observed. Both patients were male and had been exposed near the hypocenter (950m and 140m from the hypocenter) when they were young (12 years and 5 months, and 15 years and 3 months). Wounds at the exposure were not fatal, but their exposure doses were close to the lethal dose (570 and 609 rad). Their acute symptoms were severe. Nevertheless, their symptoms recovered by rest and good nutrition. Lenticular opacities (delayed ocular damage caused by atomic radiation) occurred in one patient 3 years and 7 months after the exposure and in the other patient 4 years after the exposure. It was 33 years and 10 month after the exposure when both patients aged 45 and 48 had senile cataract. Effects of aging on both patients exposed to large doses of radiation in young ages were suggested.

  15. [Analysis of refractive status after cataract surgery in age-related cataract patients with shallow anterior chamber].

    Science.gov (United States)

    Yang, Fei; Hou, Xianru; Wu, Huijuan; Bao, Yongzhen

    2014-02-01

    To evaluate the characteristics of postoperative refractive status in age-related cataract patients with shallow anterior chamber and the correlation between pre-operative anterior chamber depth and postoperative refractive status. Prospective case-control study. Sixty-eight cases (90 eyes) with age-related cataract were recruited from October 2010 to January 2012 in People's Hospital Peking University including 28 cases (34 eyes) in control group and 40 cases (56 eyes) in shallow anterior chamber group according to anterior chamber depth (ACD) measured by Pentacam system. Axial length and keratometer were measured by IOL Master and intraocular lens power was calculated using SRK/T formula. Postoperative refraction, ACD and comprehensive eye examination were performed at 1 month and 3 months after cataract surgery. Using SPSS13.0 software to establish a database, the two groups were compared with independent samples t-test and correlation analysis were performed with binary logical regression. The postoperative refractive deviation at 1 month were (-0.39 ± 0.62) D in control group and (+0.73 ± 0.26) D in shallow anterior chamber group respectively which present statistical significance between the two groups (P = 0.00, t = 3.67); the postoperative refractive deviation in 3 month was (-0.37 ± 0.62) D in control group and (+0.79 ± 0.28) D in shallow anterior chamber group operatively which present statistical significance between the two groups (P = 0.00, t = 3.33). In shallow anterior chamber group, with the shallower of ACD, the greater of refractive deviation (P = 0.00, r1 month = -0.57, r3 months = -0.61). Hyperopic shift existed in age-related cataract patients with shallow anterior chamber and the shallower of ACD was, the greater of hyperopic shift happened.

  16. Transient Tear Film Dysfunction after Cataract Surgery in Diabetic Patients.

    Directory of Open Access Journals (Sweden)

    Donghong Jiang

    Full Text Available Diabetes mellitus is an increasingly common systemic disease. Many diabetic patients seek cataract surgery for a better visual acuity. Unlike in the general population, the influence of cataract surgery on tear film function in diabetic patients remains elusive. The aim of this study was to evaluate the tear function in diabetic and nondiabetic patients following cataract surgery.In this prospective, interventional case series, 174 diabetic patients without dry eye syndrome (DES and 474 age-matched nondiabetic patients as control who underwent phacoemulsification were enrolled at two different eye centers between January 2011 and January 2013. Patients were followed up at baseline and at 7 days, 1 month, and 3 months postoperatively. Ocular symptom scores (Ocular Surface Disease Index, OSDI and tear film function including tear film stability (tear film break-up time, TBUT, corneal epithelium integrity (corneal fluorescein staining, CFS, and tear secretion (Schirmer's I test, SIT were evaluated.In total, 83.9% of the diabetic patients (146 cases with 185 eyes and 89.0% of the nondiabetic patients (422 cases with 463 eyes completed all check-ups after the interventions (P = 0.095. The incidence of DES was 17.1% in the diabetic patients and 8.1% in the nondiabetic patients at 7 days after cataract surgery. In the diabetic patients, the incidence of DES remained 4.8% at 1 month postoperatively and decreased to zero at 3 months after surgery. No DES was diagnosed in nondiabetic patients at either the 1-month or 3-month follow-up. Compared with the baseline, the diabetic patients had worse symptom scores and lower TBUT values at 7 days and 1 month but not at 3 months postoperatively. In the nondiabetic patients, symptom scores and TBUT values had returned to preoperative levels at 1-month check-up. CFS scores and SIT values did not change significantly postoperatively in either group (P = 0.916 and P = 0.964, respectively.Diabetic patients undergoing

  17. The Effect of Trabeculectomy on Cataract Formation or Progression

    Directory of Open Access Journals (Sweden)

    Zhale Rajavi

    2009-04-01

    Full Text Available PURPOSE: To determine the effect of trabeculectomy on cataract formation or progression in patients with chronic glaucoma. METHODS: This controlled clinical trial was performed on patients over 50 years of age with glaucoma who were referred to Imam Hossein Hospital, Tehran, Iran, from 2006 to 2007. Trabeculectomy was indicated only in one eye while the fellow eye had well-controlled intraocular pressure with medication(s. The fellow eyes served as controls. Lens opacity was evaluated using three criteria: visual acuity (VA, and Lens Opacification Classification System III (LOCS III photographs and scores. RESULTS: Overall 82 eyes of 41 patients including 53.7% male and 46.3% female subjects with mean age of 62.5±9.3 (range 50-75 years were evaluated. Cataract progression in operated eyes was statistically significant according to VA (P=0.02, LOCS III photo-graphs (P=0.05 and LOCS III scores (P=0.01. However, compared to fellow control eyes, cataract progression was significant according to VA (P=0.023 and LOCS III scores (P=0.057 but not based on LOCS III photographs. Mean VA reduction was 2 Snellen lines in operated eyes; there were 3 cases of cataract formation or

  18. Analysis of laser photocoagulation with cataract surgery for improvement of visual acuity and macular edema in patients with cataract and diabetic macular edema

    Directory of Open Access Journals (Sweden)

    Chao-Yu Wang

    2016-02-01

    Full Text Available AIM:To explore laser photocoagulation with cataract surgery for improvement of visual acuity and macular edema in patients with cataract and diabetic macular edema.METHODS:A total of 60 patients(72 eyesfrom January 2014 to July 2015 in our hospital were selected, which all were diagnosed as cataract with diabetic macular edema. According to a random number table method, the patients were divided into observation group and control group, 30 cases(36 eyesin each group. The observation group was treated with combination therapy of laser photocoagulation before cataract surgeries, while the control group with the combination therapy of laser photocoagulation after cataract surgeries. At 2mo after surgeries, some routine examination, such as visual acuity, fundus examination after mydriasis, slit lamp examination, optical coherence tomography(OCTexamination, fluorescence angiography examination(FFAfor retinal blood vessels were applied in all the patients. RESULTS:The visual acuity of the observation group and the control group before treatments was not significantly different(P>0.05. At 2mo after treatments, the visual inspection showed that compared with the visual acuity before treatment, the visual acuity of the two groups were both significantly improved(PPP>0.05. At 2mo after treatments, compared with those before treatments, the macular thickness of two groups were both significantly improved(PPCONCLUSION:The laser photocoagulation before cataract surgery for patients with cataract and diabetic macular edema can significantly improve their visual acuity and macular thickness.

  19. Iron in hereditary retinal degeneration: PIXE microanalysis Preliminary results

    International Nuclear Information System (INIS)

    Sergeant, C.; Gouget, B.; Llabador, Y.; Simonoff, M.; Yefimova, M.; Courtois, Y.; Jeanny, J.C.

    1999-01-01

    Several types of hereditary retinal degeneration with progressive alteration of photoreceptors exist in men and animals. Recent immunohistochemical results have shown strong degradation of transferrin, the protein responsible for iron transport, in retinas of rats with hereditary retinal degeneration. Freeze-dried thin sections of rat retinas from different stages of the disease, and respective coeval control sections, have been analyzed using nuclear microprobe. In this first part of the study, the rat retinas at post-natal stages of 35 and 45 days have been analyzed. The sample preparation and the post-irradiation staining to determine precisely the retinal layers involved are described. Preliminary results of element distributions (K, Ca, Fe) in the rat retina layers are discussed. A very high content of calcium in the choriocapillaris of dystrophic rat retinas was observed. Preliminary results on iron distribution in the rat retina layers are presented

  20. Spinal Exostosis in a Boy with Multiple Hereditary Exostoses

    Directory of Open Access Journals (Sweden)

    Ali Al Kaissi

    2013-01-01

    Full Text Available We report on a 13-year-old boy who presented with multiple hereditary exostosis and had development of back pain, associated with neurological deficits, and was found to have exostoses in the spinal canal. Spine radiograph showed a cauliflower-like abnormality of multiple exostoses of the posterior arch (pedicle of the thoracic vertebrae (T3–5. Reformatted CT scanning revealed the simultaneous development of intra- and extraspinal osteochondromatosis of T3–5. The spinal cord was compressed by the intraspinal exostosis. Our patient was surgically treated for intraspinal exostoses and showed cessation of neurological deficits. We report what might be a rare association of spinal cord compression in a patient with multiple hereditary exostoses.

  1. Could Ossification of the Achilles Tendon Have a Hereditary Component?

    Directory of Open Access Journals (Sweden)

    Chawki Cortbaoui

    2013-01-01

    Full Text Available Ossification of the Achilles tendon (OTA is an unusual clinical condition. It is characterized by the presence of an ossified mass within the fibrocartilaginous substance of the Achilles tendon. The etiology of the ossification of the Achilles tendon is unknown. Review of the literature suggests that its etiology is multifactorial. The major contributing factors are trauma and surgery with other minor causes such as systemic diseases, metabolic conditions, and infections. To our knowledge, no previous reports suggest any genetic/hereditary predisposition in OAT. We report 3 siblings who have OAT with no history of any of the aforementioned predisposing factors. Could OAT have a hereditary component as one of its etiologies?

  2. Hereditary arrhythmias and cardiomyopathies: decision-making about genetic testing.

    Science.gov (United States)

    Louis, Clauden; Calamaro, Emily; Vinocur, Jeffrey M

    2018-01-01

    The modern field of clinical genetics has advanced beyond the traditional teachings familiar to most practicing cardiologists. Increased understanding of the roles of genetic testing may improve uptake and appropriateness of use. Clinical genetics has become integral to the management of patients with hereditary arrhythmia and cardiomyopathy diagnoses. Depending on the condition, genetic testing may be useful for diagnosis, prognosis, treatment, family screening, and reproductive planning. However, genetic testing is a powerful tool with potential for underuse, overuse, and misuse. In the absence of a substantial body of literature on how these guidelines are applied in clinical practice, we use a case-based approach to highlight key lessons and pitfalls. Importantly, in many scenarios genetic testing has become the standard of care supported by numerous class I recommendations; genetic counselors can improve accessibility to and appropriate use and application of testing. Optimal management of hereditary arrhythmias and cardiomyopathies incorporates genetic testing, applied as per consensus guidelines, with involvement of a multidisciplinary team.

  3. Ethical, social and counselling issues in hereditary cancer susceptibility.

    Science.gov (United States)

    Garber, J E; Patenaude, A F

    1995-01-01

    Genetic testing for hereditary susceptibility to disease is new. Much has been learned from experience with Huntington's disease and other non-malignant conditions. There are some differences in the case of predisposition testing for cancer: there is often the perception that cancer is preventable and sometimes curable, in contrast to other hereditary conditions. Testing raises many issues new to the medical community and to the public as well. There is great concern that the explosive technology be used responsibly, so that the potential benefits of genetic knowledge are not eclipsed by the risks to autonomy, privacy and justice. Practical concerns about insurability and discrimination may inhibit some at risk individuals from taking advantage of this powerful technology. There has been considerable effort already in the UK, Europe and the USA at the research and social levels to create protection for individuals found to carry genetic susceptibility to disease.

  4. Hereditary hypohidrotic ectodermal dysplasia: report of a rare case.

    Science.gov (United States)

    Paramkusam, Geetha; Meduri, Venkateswarlu; Nadendla, Lakshmi Kavitha; Shetty, Namratha

    2013-09-01

    Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers. It is characterised by congenital dysplasia of one or more ectodermal structures and it is manifested by hypohidrosis, hypotrichosis and hypodontia. It results from abnormal morphogenesis of cutaneous and oral embryonic ectoderm. Here, we are presenting a rare case of HHED in a 19 year female with classic features of this condition.

  5. HEREDITARY INTRAVENTRICULAR CONDUCTION DISORDERS IN THE FAMILY FROM KRASNOYARSK

    Directory of Open Access Journals (Sweden)

    A. A. Chernova

    2011-01-01

    Full Text Available Pedigree of the family from Krasnoyarsk city with hereditary disorders of intracardiac conduction was studied. The diagnosis of each family member was verified by electrocardiography (ECG, echocardiography , bicycle ergometry , ECG Holter monitoring. The family 10-year follow-up showed familial aggregation of intracardiac conduction disorders in grandson, niece, son of the proband niece, ie, in the III-degree relatives. Family history of III-degree relatives with intracardiac conduction disorders and discordant pathology is identified.

  6. The prevalence of primary hereditary hemochromatosis in central Anatolia.

    Science.gov (United States)

    Karaca, Halit; Güven, Kadri; Önal, Müge; Gürsoy, Şebnem; Başkol, Mevlüt; Özkul, Yusuf

    2013-01-01

    Hereditary hemochromatosis is an autosomal recessive disorder associated with the HFE genes. Early identification and diagnosis is important as end stage organ damage may occur if treatment is delayed.. This study aimed to identify the prevalence of hereditary hemochromatosis in Kayseri and surroundings known as Central Anatolia. 2304 participants (1220 males, 1084 females) who were older then the age of 17 were included in the study conducted between December 2005 and December 2006 in Kayseri, Turkey. Transferin saturation was measured from overnight fasting blood samples. Serum iron, total iron binding capacity, and transferin saturation were measured. Serum ferritin levels and hereditary hemochromatosis genetic analysis were also performed after an overnight fasting blood samples from participants whose transferin saturation results were more than 50% in man and more than 45% in women. The homozygote C282Y mutation and heterozygote C282Y mutation prevalences were found as 0.08% (1/1220) and 0.08% (1/1220) in male participants, respectively. The heterozygote H63D mutation prevalence was found in 0.09% (1/1084) of female participants. Calculated prevalences in general population are as follows; The homozygote C282Y mutation prevalence is 0.043% (1/2304), the heterozygote C282Y mutation prevalence is 0.043% (1/2304) and the heterozygote H63D mutation prevalence is 0.043% (1/2304). The prevalence of hereditary hemochromatosis in Central Anatolia is 0.043% (1/2304). Because of the relatively low frequency, population screening studies are not cost-effective.

  7. Hereditary spastic paraplegias: membrane traffic and the motor pathway

    OpenAIRE

    Blackstone, Craig; O’Kane, Cahir J.; Reid, Evan

    2011-01-01

    Voluntary movement is a fundamental way in which animals respond to, and interact with, their environment. In mammals, the main CNS pathway controlling voluntary movement is the corticospinal tract, which encompasses connections between the cerebral motor cortex and the spinal cord. Hereditary spastic paraplegias (HSPs) are a group of genetic disorders that lead to a length-dependent, distal axonopathy of fibres of the corticospinal tract, causing lower limb spasticity and weakness. Recent wo...

  8. Increased Mortality and Comorbidity Associated With Leber's Hereditary Optic Neuropathy

    DEFF Research Database (Denmark)

    Vestergaard, Nanna; Rosenberg, Thomas; Torp-Pedersen, Christian

    2017-01-01

    Purpose: Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease in which optic neuropathy is considered a key feature. Several other manifestations of LHON have been reported; however, only little is known of their incidence and the life expectancy in LHON patients. Methods...... patients (RR: 4.26, 95% CI: 1.91-9.48; P neuropathy, and alcohol-related disorders. Conclusions: The manifestation of LHON was associated...

  9. The molecular basis of hereditary enamel defects in humans.

    Science.gov (United States)

    Wright, J T; Carrion, I A; Morris, C

    2015-01-01

    The formation of human enamel is highly regulated at the molecular level and involves thousands of genes. Requisites for development of this highly mineralized tissue include cell differentiation; production of a unique extracellular matrix; processing of the extracellular matrix; altering of cell function during different stages of enamel formation; cell movement and attachment; regulation of ion and protein movement; and regulation of hydration, pH, and other conditions of the microenvironment, to name just a few. Not surprising, there is a plethora of hereditary conditions with an enamel phenotype. The objective of this review was to identify the hereditary conditions listed on Online Mendelian Inheritance in Man (OMIM) that have an associated enamel phenotype and whether a causative gene has been identified. The OMIM database was searched with the terms amelogenesis, enamel, dental, and tooth, and all results were screened by 2 individuals to determine if an enamel phenotype was identified. Gene and gene product function was reviewed on OMIM and from publications identified in PubMed. The search strategy revealed 91 conditions listed in OMIM as having an enamel phenotype, and of those, 71 have a known molecular etiology or linked genetic loci. The purported protein function of those conditions with a known genetic basis included enzymes, regulatory proteins, extracellular matrix proteins, transcription factors, and transmembrane proteins. The most common enamel phenotype was a deficient amount of enamel, or enamel hypoplasia, with hypomineralization defects being reported less frequently. Knowing these molecular defects allows an initial cataloging of molecular pathways that lead to hereditary enamel defects in humans. This knowledge provides insight into the diverse molecular pathways involved in enamel formation and can be useful when searching for the genetic etiology of hereditary conditions that involve enamel. © International & American Associations for

  10. Hereditary Angioedema: The Economics of Treatment of an Orphan Disease.

    Science.gov (United States)

    Lumry, William Raymond

    2018-01-01

    This review will discuss the cost burden of hereditary angioedema on patients, healthcare systems, and society. The impact of availability of and access to novel and specific therapies on morbidity, mortality, and the overall burden of disease will be explored along with potential changes in treatment paradigms to improve effectiveness and reduce cost of treatment. The prevalence of orphan diseases, legislative incentives to encourage development of orphan disease therapies and the impact of orphan disease treatment on healthcare payment systems will be discussed.

  11. [Hereditary haemorrhagic telangiectasia diagnosed in connection with a traffic accident].

    Science.gov (United States)

    Sivapalan, Pradeesh; Demény, Ann Kathrin; Almind, Merete; Kjeldsen, Anette Drøhse

    2014-02-17

    Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by vascular dysplasia and haemorrhage. It is manifested by mucocutaneous telangiec-tases and arteriovenous malformations in organs such as lungs, liver and brain. We present a case of HHT. A 16-year-old patient with a history of recurrent epistaxis was admitted to the local hospital with chest pain and desaturation. A CT scan revealed pulmonary arteriovenous malformations.

  12. The Molecular Basis of Hereditary Enamel Defects in Humans

    Science.gov (United States)

    Carrion, I.A.; Morris, C.

    2015-01-01

    The formation of human enamel is highly regulated at the molecular level and involves thousands of genes. Requisites for development of this highly mineralized tissue include cell differentiation; production of a unique extracellular matrix; processing of the extracellular matrix; altering of cell function during different stages of enamel formation; cell movement and attachment; regulation of ion and protein movement; and regulation of hydration, pH, and other conditions of the microenvironment, to name just a few. Not surprising, there is a plethora of hereditary conditions with an enamel phenotype. The objective of this review was to identify the hereditary conditions listed on Online Mendelian Inheritance in Man (OMIM) that have an associated enamel phenotype and whether a causative gene has been identified. The OMIM database was searched with the terms amelogenesis, enamel, dental, and tooth, and all results were screened by 2 individuals to determine if an enamel phenotype was identified. Gene and gene product function was reviewed on OMIM and from publications identified in PubMed. The search strategy revealed 91 conditions listed in OMIM as having an enamel phenotype, and of those, 71 have a known molecular etiology or linked genetic loci. The purported protein function of those conditions with a known genetic basis included enzymes, regulatory proteins, extracellular matrix proteins, transcription factors, and transmembrane proteins. The most common enamel phenotype was a deficient amount of enamel, or enamel hypoplasia, with hypomineralization defects being reported less frequently. Knowing these molecular defects allows an initial cataloging of molecular pathways that lead to hereditary enamel defects in humans. This knowledge provides insight into the diverse molecular pathways involved in enamel formation and can be useful when searching for the genetic etiology of hereditary conditions that involve enamel. PMID:25389004

  13. Hereditary myopathies with early respiratory insufficiency in adults.

    Science.gov (United States)

    Naddaf, Elie; Milone, Margherita

    2017-11-01

    Hereditary myopathies with early respiratory insufficiency as a predominant feature of the clinical phenotype are uncommon and underestimated in adults. We reviewed the clinical and laboratory data of patients with hereditary myopathies who demonstrated early respiratory insufficiency before the need for ambulatory assistance. Only patients with disease-causing mutations or a specific histopathological diagnosis were included. Patients with cardiomyopathy were excluded. We identified 22 patients; half had isolated respiratory symptoms at onset. The diagnosis of the myopathy was often delayed, resulting in delayed ventilatory support. The most common myopathies were adult-onset Pompe disease, myofibrillar myopathy, multi-minicore disease, and myotonic dystrophy type 1. Single cases of laminopathy, MELAS (mitochondrial encephalomyopathy with lactic acidosis and strokelike events), centronuclear myopathy, and cytoplasmic body myopathy were identified. We highlighted the most common hereditary myopathies associated with early respiratory insufficiency as the predominant clinical feature, and underscored the importance of a timely diagnosis for patient care. Muscle Nerve 56: 881-886, 2017. © 2017 Wiley Periodicals, Inc.

  14. Gastric tumours in hereditary cancer syndromes: clinical features, molecular biology and strategies for prevention.

    Science.gov (United States)

    Sereno, María; Aguayo, Cristina; Guillén Ponce, Carmen; Gómez-Raposo, César; Zambrana, Francisco; Gómez-López, Miriam; Casado, Enrique

    2011-09-01

    Gastric cancer is the major cause of cancer-related deaths worldwide. The majority of them are classified as sporadic, whereas the remaining 10% exhibit familial clustering. Hereditary diffuse gastric cancer (HDGC) syndrome is the most important condition that leads to hereditary gastric cancer. However, other hereditary cancer syndromes, such as hereditary non-polyposis colorectal cancer, familial adenomatous polyposis, Peutz-Jeghers syndrome, Li-Fraumeni syndrome and hereditary breast and ovarian cancer, entail a higher risk compared to the general population for developing this kind of neoplasia. In this review, we describe briefly the most important aspects related to clinical features, molecular biology and strategies for prevention in hereditary gastric associated to different cancer syndromes.

  15. Association of vitamin C with the risk of age-related cataract: a meta-analysis.

    Science.gov (United States)

    Wei, Lin; Liang, Ge; Cai, Chunmei; Lv, Jin

    2016-05-01

    Whether vitamin C is a protective factor for age-related cataract remains unclear. Thus, we conducted a meta-analysis to summarize the evidence from epidemiological studies of vitamin C and the risk of age-related cataract. Pertinent studies were identified by searching in PubMed and in Webscience. The random effect model was used to combine the results. Meta-regression and subgroups analyses were used to explore potential sources of between-study heterogeneity. Publication bias was estimated using Egger's regression asymmetry test. Finally, 15 articles with 20 studies for vitamin C intake and eight articles with 10 studies for serum ascorbate were included in this meta-analysis. The relative risk (RR) and 95% confidence interval of cataract for the highest versus the lowest category of vitamin C intake was 0.814 (0.707-0.938), and the associations were significant in America and Asia. Significant association of cataract risk with highest versus the lowest category of serum ascorbate was found in general [0.704 (0.564-0.879)]. Inverse associations were also found between serum ascorbate and nuclear cataract and posterior subcapsular cataract. Higher vitamin C intake and serum ascorbate might be inversely associated with risk of cataract. Vitamin C intake should be advocated for the primary prevention of cataract. © 2015 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

  16. Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract.

    Science.gov (United States)

    Zhang, D D; Du, J Z; Topolewski, J; Wang, X M

    2016-07-29

    Congenital cataract is a common cause of blindness in children; however, its pathogenesis remains unclear. Genetic factors have been shown to play an important role in the pathogenesis of congenital cataract. The current genetic models of congenital cataract include autosomal dominant, autosomal recessive, and sex-linked inheritance. Sex-linked congenital cataract could be inherited through the X or Y chromosome. Congenital cataract is a symptom associated with several X-linked disorders, including Nance-Horan syndrome, Lowe syndrome, Conradi-Hünermann-Happle syndrome, oculo-facio-cardio-dental syndrome, and Alport syndrome. On the other hand, the mechanism and characteristics of Y-linked congenital cataract remains to be identified. Despite its rarity, sex-linked congenital cataract has been known to seriously affect the quality of life of patients. In this review, we present our current understanding of the genes and loci associated with sex-linked congenital cataract. This could help identify novel approaches for the prevention, early diagnosis, and comprehensive disease treatment.

  17. Formation of hydroxyl radicals in the human lens is related to the severity of nuclear cataract

    DEFF Research Database (Denmark)

    Garner, B; Davies, Michael Jonathan; Truscott, R J

    2000-01-01

    Recent studies have identified specific hydroxylated amino acid oxidation products which strongly suggest the presence of hydroxyl radical (HO.)-damaged proteins in human cataractous lenses. In the present study, the ability of early stage (type II) and advanced (type IV) nuclear cataractous lens...

  18. Risk of cataract among medical staff in neurosurgical department occupationally exposed to radiation

    International Nuclear Information System (INIS)

    Stankova-Mileva, I.; Vassileva, J.; Djounova, J.

    2012-01-01

    In this study we present the risk of cataract among medical staff in neurosurgical department occupationally exposed to radiation compared to those of non-radiation workers. Cataract is the most common degenerative opacity of the crystalline lens developing with aging. Other risk factors for cataract are: infrared and ultraviolet radiation, systemic diseases (diabetes, hypertonic disease), eye diseases (glaucoma, high myopia), drugs (steroids), etc. High risk of developing cataract we find among staff occupationally exposed to radiation during operations - interventional cardiologists and neurosurgeons. This study includes 30 people between 33 and 60 years of age working in neurosurgical department and control group (the same amount and age of people not exposed to radiation in their work). After visual acuity measurement, the lens was examined by retroillumination method (red reflex) and using a bio microscope. The patients were asked for presence of ocular and systemic diseases, eye trauma, drug, alcohol and tobacco abuse and for how many years they work in this department. There was one case with cataract among neurosurgeons. The doctor doesn't have eye or systemic diseases, doesn't take any drugs and is not alcohol or tobacco abuser. In the control group there were two persons with subcapsular cataract but they have diabetes. Radiation is one of the risk factors for cataract. Continuing of this epidemiological survey will provide further knowledge on the potential risk of occupational radiation-induced cataract among neurosurgical staff and will contribute for optimization of radiation protection. (authors)

  19. Risk factors for the development of cataract requiring surgery in uveitis associated with juvenile idiopathic arthritis.

    NARCIS (Netherlands)

    Sijssens, K.M.; Rothova, A.; van de Vijver, D.A.M.C.; Stilma, J.S.; de Boer, J.H.

    2007-01-01

    PURPOSE: To identify the possible risk factors for the development of cataract requiring surgery in children with juvenile idiopathic arthritis (JIA)-associated uveitis. DESIGN: Retrospective cohort study. METHODS: Data of 53 children with JIA-associated uveitis, of whom 27 had undergone cataract

  20. Outcome of cataract surgery in rural areas of Kaduna State, Nigeria

    African Journals Online (AJOL)

    Ethic Research Committee (ERC) and was conducted following research principles as contained in the Declaration of Helsinki. Consent for cataract surgery with intraocular lens implant was obtained from all the patients or their relatives. Standard extracapsular cataract extraction (ECCE) and posterior chamber intraocular ...

  1. The challenges in improving outcome of cataract surgery in low and middle income countries

    Science.gov (United States)

    Lindfield, Robert; Vishwanath, Kalluru; Ngounou, Faustin; Khanna, Rohit C

    2012-01-01

    Cataract is the leading cause of blindness globally and surgery is the only known measure to deal with it effectively. Providing high quality cataract surgical services is critical if patients with cataract are to have their sight restored. A key focus of surgery is the outcome of the procedure. In cataract surgery this is measured predominantly, using visual acuity. Population- and hospital-based studies have revealed that the visual outcome of cataract surgery in many low and middle income settings is frequently sub-optimal, often failing to reach the recommended standards set by the World Health Organization (WHO). Another way of measuring outcome of cataract surgery is to ask patients for their views on whether surgery has changed the functioning of their eyes and their quality of life. There are different tools available to capture patient views and now, these patient-reported outcomes are becoming more widely used. This paper discusses the visual outcome of cataract surgery and frames the outcome of surgery within the context of the surgical service, suggesting that the process and outcome of care cannot be separated. It also discusses the components of patient-reported outcome tools and describes some available tools in more detail. Finally, it describes a hierarchy of challenges that need to be addressed before a high quality cataract surgical service can be achieved. PMID:22944761

  2. Fitness costs of increased cataract frequency and cumulative radiation dose in natural mammalian populations from Chernobyl.

    Science.gov (United States)

    Lehmann, Philipp; Boratyński, Zbyszek; Mappes, Tapio; Mousseau, Timothy A; Møller, Anders P

    2016-01-27

    A cataract is a clouding of the lens that reduces light transmission to the retina, and it decreases the visual acuity of the bearer. The prevalence of cataracts in natural populations of mammals, and their potential ecological significance, is poorly known. Cataracts have been reported to arise from high levels of oxidative stress and a major cause of oxidative stress is ionizing radiation. We investigated whether elevated frequencies of cataracts are found in eyes of bank voles Myodes glareolus collected from natural populations in areas with varying levels of background radiation in Chernobyl. We found high frequencies of cataracts in voles collected from different areas in Chernobyl. The frequency of cataracts was positively correlated with age, and in females also with the accumulated radiation dose. Furthermore, the number of offspring in female voles was negatively correlated with cataract severity. The results suggest that cataracts primarily develop as a function of ionizing background radiation, most likely as a plastic response to high levels of oxidative stress. It is therefore possible that the elevated levels of background radiation in Chernobyl affect the ecology and fitness of local mammals both directly through, for instance, reduced fertility and indirectly, through increased cataractogenesis.

  3. MICROORGANISMS FOUND IN SECONDARY CATARACT MATERIAL OF ECCE PATIENTS, A STUDY WITH SEM AND TEM

    NARCIS (Netherlands)

    KALICHARAN, D; JONGEBLOED, WL; LOS, LI; WORST, JGF

    1993-01-01

    Globular secondary cataract material, removed from 24 patients with ECCE after ophthalmic cleaning of the anterior capsule, were investigated with SEM and TEM. Besides spherical, somewhat oval shaped bodies of various shape and size comparable with those found in cataractous lenses, (an)aerobic

  4. (AN)AEROBIC BACTERIA FOUND IN SECONDARY-CATARACT MATERIAL - A SEM/TEM STUDY

    NARCIS (Netherlands)

    KALICHARAN, D; JONGEBLOED, WL; LOS, LI; WORST, JGF

    1992-01-01

    Twentyfour patients, who had marked reduction of vision due to secondary-cataract developed after an ECCE, were treated by surgical cleaning of the posterior lens capsule. During this procedure globular secondary-cataract material was removed and collected for morphological examination by SEM and

  5. The challenges in improving outcome of cataract surgery in low and middle income countries

    Directory of Open Access Journals (Sweden)

    Robert Lindfield

    2012-01-01

    Full Text Available Cataract is the leading cause of blindness globally and surgery is the only known measure to deal with it effectively. Providing high quality cataract surgical services is critical if patients with cataract are to have their sight restored. A key focus of surgery is the outcome of the procedure. In cataract surgery this is measured predominantly, using visual acuity. Population- and hospital-based studies have revealed that the visual outcome of cataract surgery in many low and middle income settings is frequently sub-optimal, often failing to reach the recommended standards set by the World Health Organization (WHO. Another way of measuring outcome of cataract surgery is to ask patients for their views on whether surgery has changed the functioning of their eyes and their quality of life. There are different tools available to capture patient views and now, these patient-reported outcomes are becoming more widely used. This paper discusses the visual outcome of cataract surgery and frames the outcome of surgery within the context of the surgical service, suggesting that the process and outcome of care cannot be separated. It also discusses the components of patient-reported outcome tools and describes some available tools in more detail. Finally, it describes a hierarchy of challenges that need to be addressed before a high quality cataract surgical service can be achieved.

  6. Cataract surgery and age-related macular degeneration. An evidence-based update

    DEFF Research Database (Denmark)

    Kessel, Line; Erngaard, Ditte; Flesner, Per

    2015-01-01

    PURPOSE: Age-related macular degeneration (AMD) and cataract often coexist in patients and concerns that cataract surgery is associated with an increased risk of incidence or progression of existing AMD has been raised. This systematic review and meta-analysis is focused on presenting the evidence...

  7. Different alpha crystallin expression in human age-related and congenital cataract lens epithelium.

    Science.gov (United States)

    Yang, Jing; Zhou, Sheng; Guo, Minfei; Li, Yuting; Gu, Jianjun

    2016-05-28

    The purpose of this study was to investigate the different expressions of αA-crystallin and αB-crystallin in human lens epithelium of age-related and congenital cataracts. The central part of the human anterior lens capsule approximately 5 mm in diameter together with the adhering epithelial cells, were harvested and processed within 6 hours after cataract surgery from age-related and congenital cataract patients or from normal eyes of fresh cadavers. The mRNA and soluble protein levels of αA-crystallin and αB-crystallin in the human lens epithelium were detected by real-time PCR and western blots, respectively. The mRNA and soluble protein expressions of αA-crystallin and αB-crystallin in the lens epithelium were both reduced in age-related and congenital cataract groups when compared with the normal control group. However, the degree of α-crystallin loss in the lens epithelium was highly correlated with different cataract types. The α-crystallin expression of the lens epithelium was greatly reduced in the congenital cataract group but only moderately decreased in the age-related cataract group. The reduction of αA-crystallin soluble protein levels in the congenital cataract group was approximately 2.4 fold decrease compared with that of the age-related cataract group, while an mRNA fold change of 1.67 decrease was observed for the age-related cataract group. Similarly, the reduction of soluble protein levels of αB-crystallin in the congenital cataract group was approximately a 1.57 fold change compared with that of the age-related cataract group. A 1.75 fold change for mRNA levels compared with that of the age-related cataract group was observed. The results suggest that the differential loss of α-crystallin in the human lens epithelium could be associated with the different mechanisms of cataractogenesis in age-related versus congenital cataracts, subsequently resulting in different clinical presentations.

  8. Association of Cataract Surgery With Mortality in Older Women: Findings from the Women's Health Initiative.

    Science.gov (United States)

    Tseng, Victoria L; Chlebowski, Rowan T; Yu, Fei; Cauley, Jane A; Li, Wenjun; Thomas, Fridtjof; Virnig, Beth A; Coleman, Anne L

    2018-01-01

    Previous studies have suggested an association between cataract surgery and decreased risk for all-cause mortality potentially through a mechanism of improved health status and functional independence, but the association between cataract surgery and cause-specific mortality has not been previously studied and is not well understood. To examine the association between cataract surgery and total and cause-specific mortality in older women with cataract. This prospective cohort study included nationwide data collected from the Women's Health Initiative (WHI) clinical trial and observational study linked with the Medicare claims database. Participants in the present study were 65 years or older with a diagnosis of cataract in the linked Medicare claims database. The WHI data were collected from January 1, 1993, through December 31, 2015. Data were analyzed for the present study from July 1, 2014, through September 1, 2017. Cataract surgery as determined by Medicare claims codes. The outcomes of interest included all-cause mortality and mortality attributed to vascular, cancer, accidental, neurologic, pulmonary, and infectious causes. Mortality rates were compared by cataract surgery status using the log-rank test and Cox proportional hazards regression models adjusting for demographics, systemic and ocular comorbidities, smoking, alcohol use, body mass index, and physical activity. A total of 74 044 women with cataract in the WHI included 41 735 who underwent cataract surgery. Mean (SD) age was 70.5 (4.6) years; the most common ethnicity was white (64 430 [87.0%]), followed by black (5293 [7.1%]) and Hispanic (1723 [2.3%]). The mortality rate was 2.56 per 100 person-years in both groups. In covariate-adjusted Cox models, cataract surgery was associated with lower all-cause mortality (adjusted hazards ratio [AHR], 0.40; 95% CI, 0.39-0.42) as well as lower mortality specific to vascular (AHR, 0.42; 95% CI, 0.39-0.46), cancer (AHR, 0.31; 95% CI, 0

  9. Capsular Outcomes After Pediatric Cataract Surgery Without Intraocular Lens Implantation

    Science.gov (United States)

    Tan, Xuhua; Lin, Haotian; Lin, Zhuoling; Chen, Jingjing; Tang, Xiangchen; Luo, Lixia; Chen, Weirong; Liu, Yizhi

    2016-01-01

    Abstract The objective of this study was to investigate capsular outcomes 12 months after pediatric cataract surgery without intraocular lens implantation via qualitative classification and quantitative measurement. This study is a cross-sectional study that was approved by the institutional review board of Zhongshan Ophthalmic Center of Sun Yat-sen University in Guangzhou, China. Digital coaxial retro-illumination photographs of 329 aphakic pediatric eyes were obtained 12 months after pediatric cataract surgery without intraocular lens implantation. Capsule digital coaxial retro-illumination photographs were divided as follows: anterior capsule opening area (ACOA), posterior capsule opening area (PCOA), and posterior capsule opening opacity (PCOO). Capsular outcomes were qualitatively classified into 3 types based on the PCOO: Type I—capsule with mild opacification but no invasion into the capsule opening; Type II—capsule with moderate opacification accompanied by contraction of the ACOA and invasion to the occluding part of the PCOA; and Type III—capsule with severe opacification accompanied by total occlusion of the PCOA. Software was developed to quantitatively measure the ACOA, PCOA, and PCOO using standardized DCRPs. The relationships between the accurate intraoperative anterior and posterior capsulorhexis sizes and the qualitative capsular types were statistically analyzed. The DCRPs of 315 aphakic eyes (95.8%) of 191 children were included. Capsular outcomes were classified into 3 types: Type I—120 eyes (38.1%); Type II—157 eyes (49.8%); Type III—38 eyes (12.1%). The scores of the capsular outcomes were negatively correlated with intraoperative anterior capsulorhexis size (R = −0.572, P PCOA increased in size from Type I to Type II, and the PCOO increased from Type II to Type III (all P < 0.05). Capsular outcomes after pediatric cataract surgery can be qualitatively classified and quantitatively measured by acquisition, division

  10. Using corneal topography design personalized cataract surgery programs

    Directory of Open Access Journals (Sweden)

    Jin-Ou Huang

    2014-08-01

    Full Text Available AIM:To investigate how to design personalized cataract surgery programs to achieve surgical correction of preoperative corneal astigmatism with surgical astigmatism under the guidance of corneal topography, improve postoperative visual quality and reduce the cost of treatment. METHODS: Totally 202 cases(226 eyescataract patients were divided into randomized treatment group and individualized treatment group. According to the method and location of the incision, randomized treatment group were divided into 8 groups. Surgical astigmatism after different incision were calculated with the use of preoperative and postoperative corneal astigmatism through vector analysis method. Individualized treatment groups were designed personably for surgical method with reference of every surgically induced astigmatism, the surgical method chooses the type of surgical incision based on close link between preoperative corneal astigmatism and surgically induced astigmatism, and the incision was located in the steep meridian. The postoperative corneal astigmatism of individualized treatment group was observed. RESULTS: Postoperative corneal astigmatism of individualized treatment group were lower than that of 3.0mm clear corneal tunnel incision in the randomized treatment group, there were statistically significance difference, while with 3.0mm sclera tunnel incision group there were no statistically significance difference. After 55.8% of patients with the use of individualized surgical plan could undergo the operation of extracapsular cataract extraction with relatively low cost and rigid intraocular lens implantation, the per capita cost of treatment could be reduced. CONCLUSION: Personalized cataract surgery programs are designed to achieve surgical correction of preoperative corneal astigmatism under the use of corneal topography, improve postoperative visual quality and reduce the cost of treatment.

  11. "Vitreous loss: Incidence and complications in extracapsular Cataract extractions "

    Directory of Open Access Journals (Sweden)

    Nikeghbali A

    2000-09-01

    Full Text Available One of the dangerous complications of cataract extractions is vitreous loss. The purpose of this stuy is to evaluate the incidence of vitreous loss and its sepuale while teaching residents at Rasoul Akram Hospital in Iran. This study has been conducted on existing records of 730 eyes which were subjectd to extracapsular cataract extractions by 3rd and 4th year, right handed resident of Rasoul Akram hospital. The information was taken from the records of patients who had vitreous loss during cataract surgery and the following data was extracted. The presence of any systemic diseases, phase of operation where vitreous loss occurred, vision on the next day, one month and 3 months later, the cause of low vision and any post operative sequale of the eye were evaluated. Extracted data collected and the prevalence of vitreous loss and its sequale were indentified and presented. Forty-nine eyes (6.7% had vitreous loss, thirty-one of them were in the left eye (63.3% and eighteen of them were in the right eye (36.7%. Regarding the stage of operation in which vitrous loss had occurred: twenty –eight eyes while nucleous delivery (57.7% eighteen eyes during aspiration of cortical material (36.7% and in three cases during IOL implantation. Five eyes had pseudoexfoliaton syndrome, four patients were diabetic and three had high myopia. Post operational sequale of these 49 eyes were: thirty-five with transient corneal edema (71.4%. Nine with misshaped pupils (18.9%, four with high astigmatism (8.1%, tow with cystoid macular edema (4%, two with retinal detachment (4% and seven with cloudy vitreous. (14.3%. The incidence of vitreous loss is more than expected. More extensive research to evaluated the prognositc factors according to the eye (OD/OS and the stage of the operation the leads to vitreous loss and to decrease its incidence is still needed.

  12. Ocular surface changes after combined surgery of glaucoma and cataract

    Directory of Open Access Journals (Sweden)

    Zhe Yu

    2018-02-01

    Full Text Available AIM: To investigate the effect of phacoemulsification intraocular lens implantation combined with trabeculectomy on ocular surface in the treatment of glaucoma and cataract. METHODS: Totally 45 cases of patients with glaucoma and cataract in our hospital from February 2016 to February 2017 were enrolled. All the patients had unilateral disease, and the medical records of the patients were analyzed retrospectively. The sicked eyes were set as the observation group and contralateral eyes were set as the control group. The dry eye score, break-up time(BUT, corneal fluorescein staining score(FL, tear secretion test(SⅠtand conjunctival epithelium goblet cell density(CICwas compared between two groups before operation and at 1wk, 1 and 3mo after operation. RESULTS: The preoperative dry eye score of the observation group had no significant difference with that of the control group(P>0.05. At 1wk, 1mo after operation, data of the observation group was significantly higher than that of the control group and before operation, with statistical significance(PP>0.05. Preoperative BUT of the observation group had no significant difference with that of the control group(P>0.05; at 1 wk,1 and 3mo after operation, data of the observation group was significantly lower than that of the control group and before operation, with statistical significance(PPPP>0.05, and the postoperative SⅠt scores of the observation group at 1wk, 1 and 3mo postoperatively was evidently lower than that of the control group and before operation(PPCONCLUSION: Phacoemulsification intraocular lens implantation combined with trabeculectomy for treatment of glaucoma and cataract can aggravate dry eye symptoms, as well as reduce tear film stability and tear secretion, impair conjunctival epithelium goblet cell.

  13. Monocular oral reading after treatment of dense congenital unilateral cataract

    Science.gov (United States)

    Birch, Eileen E.; Cheng, Christina; Christina, V; Stager, David R.

    2010-01-01

    Background Good long-term visual acuity outcomes for children with dense congenital unilateral cataracts have been reported following early surgery and good compliance with postoperative amblyopia therapy. However, treated eyes rarely achieve normal visual acuity and there has been no formal evaluation of the utility of the treated eye for reading. Methods Eighteen children previously treated for dense congenital unilateral cataract were tested monocularly with the Gray Oral Reading Test, 4th edition (GORT-4) at 7 to 13 years of age using two passages for each eye, one at grade level and one at +1 above grade level. In addition, right eyes of 55 normal children age 7 to 13 served as a control group. The GORT-4 assesses reading rate, accuracy, fluency, and comprehension. Results Visual acuity of treated eyes ranged from 0.1 to 2.0 logMAR and of fellow eyes from −0.1 to 0.2 logMAR. Treated eyes scored significantly lower than fellow and normal control eyes on all scales at grade level and at +1 above grade level. Monocular reading rate, accuracy, fluency, and comprehension were correlated with visual acuity of treated eyes (rs = −0.575 to −0.875, p < 0.005). Treated eyes with 0.1-0.3 logMAR visual acuity did not differ from fellow or normal control eyes in rate, accuracy, fluency, or comprehension when reading at grade level or at +1 above grade level. Fellow eyes did not differ from normal controls on any reading scale. Conclusions Excellent visual acuity outcomes following treatment of dense congenital unilateral cataracts are associated with normal reading ability of the treated eye in school-age children. PMID:20603057

  14. Virtual reality cataract surgery training: learning curves and concurrent validity.

    Science.gov (United States)

    Selvander, Madeleine; Åsman, Peter

    2012-08-01

    To investigate initial learning curves on a virtual reality (VR) eye surgery simulator and whether achieved skills are transferable between tasks. Thirty-five medical students were randomized to complete ten iterations on either the VR Caspulorhexis module (group A) or the Cataract navigation training module (group B) and then two iterations on the other module. Learning curves were compared between groups. The second Capsulorhexis video was saved and evaluated with the performance rating tool Objective Structured Assessment of Cataract Surgical Skill (OSACSS). The students' stereoacuity was examined. Both groups demonstrated significant improvements in performance over the 10 iterations: group A for all parameters analysed including score (p < 0.0001), time (p < 0.0001) and corneal damage (p = 0.0003), group B for time (p < 0.0001), corneal damage (p < 0.0001) but not for score (p = 0.752). Training on one module did not improve performance on the other. Capsulorhexis score correlated significantly with evaluation of the videos using the OSACSS performance rating tool. For stereoacuity < and ≥120 seconds of arc, sum of both modules' second iteration score was 73.5 and 41.0, respectively (p = 0.062). An initial rapid improvement in performance on a simulator with repeated practice was shown. For capsulorhexis, 10 iterations with only simulator feedback are not enough to reach a plateau for overall score. Skills transfer between modules was not found suggesting benefits from training on both modules. Stereoacuity may be of importance in the recruitment and training of new cataract surgeons. Additional studies are needed to investigate this further. Concurrent validity was found for Capsulorhexis module. © 2010 The Authors. Acta Ophthalmologica © 2010 Acta Ophthalmologica Scandinavica Foundation.

  15. The development and demise of a cataract surgery database.

    Science.gov (United States)

    Lum, Flora; Schachat, Andrew P; Jampel, Henry D

    2002-03-01

    The American Academy of Ophthalmology (AAO; San Francisco) launched a national eye care outcomes initiative in 1996, in response to strong interest by third-party payers and managed care in performance measurement and outcomes. The AAO's outcomes initiative NEON (National Eyecare Outcomes Network) began with the design and launch of a prospective observational registry of patients undergoing cataract surgery. Participants submitted a common set of data regarding patients' demographics, preoperative ophthalmologic history, physical exam, test results, functional status and symptoms, intraoperative procedures and events, and postoperative outcomes for all patients undergoing first or second eye cataract surgery. Between January 1, 1996, and March 30, 2001, a total of 249 ophthalmologists submitted data on 17,876 patients undergoing first or second eye surgery. All preoperative, intraoperative, and postoperative clinical data forms were submitted for 9,937 patients (55.7%). After surgery, 93% of patients achieved a best corrected visual acuity of 20/40, 89% improved their visual functioning, and 92% experienced fewer cataract-related symptoms. At the end of March 2001, NEON was discontinued because of a lack of participation and demand by members or third parties for this information. The momentum for accountability and performance measures never quite materialized into advantages for contracting for physicians or requirements by payers. In the future, more scientific evidence regarding the validity and meaning of outcome measures and differences in measurements, investment in health information technology infrastructure, use of technology to collect information at the point of care, and incentives favoring data collection and analysis will be needed to pave the way for renewed interest in outcomes.

  16. Application of intracameral moxifloxacin to prevent endophthalmitis in cataract surgery

    Directory of Open Access Journals (Sweden)

    Servet Cetinkaya

    2015-10-01

    Full Text Available AIM: To evaluate the safety and efficacy of intracameral moxifloxacin in preventing endophthalmitis after cataract surgery.METHODS:Sixty-five eyes of 65 patients underwent cataract surgery between January and June 2012. Some patients received intracameral moxifloxacin at the end of surgery, while others did not(controls. Pre- and postperative logarithm of the minimum angle of resolution(logMARbest corrected visual acuity(BCVA, intraocular pressure(IOP, corneal edema, and anterior chamber(ACstatus were examined.RESULTS: Thirty-three patients(19 males, 14 females; average age, 64.81±11.61y(range: 41-82yreceived moxifloxacin and 32 patients(15 males, 17 females; average age, 65.43±11.10y(range: 42-81ydid not. The differences in patient age(P=0.827and sex(P=0.396were insignificant. Preoperative BCVA was approximately 20/130 in both groups. After surgery, moxifloxacin and control patients had a BCVA of 20/25 and 20/23, respectively(P=0.160. Preoperative IOP was 14.93±2.77mmHg(range: 11-21mmHgin moxifloxacin patients and 15.06±2.42mm Hg(range: 12-21mmHgin controls(P=0.850. After surgery, IOP was not statistically different between two groups(moxifloxacin: 14.06±2.31(range: 10-19mmHg, controls: 14.03±2.36mmHg(range: 10-19mmHg, P=0.960. Slight differences in corneal edema(P=0.623and anterior chamber cell(P=0.726incidences between two groups were not statistically significant. CONCLUSION: Intracameral moxifloxacin is safe and effective in preventing endophtalmitis after cataract surgery.

  17. Audit of cataract surgery in Cadiz: visual outcomes and complications.

    Science.gov (United States)

    Royo-Dujardin, L; Alcalde-Vílchez, E; Rodríguez-de la Rúa, E; Novalbos-Ruiz, J P

    2018-06-01

    To publish the outcomes and complications of age-related cataract surgery in Cadiz (Spain). Due to the lack of national audits, a comparison was made between the results obtained here and those of the most recent European audit, EUREQUO (2013), and the British audit RCOphth NOD (2015). A prospective, longitudinal, before-after study of 312 patients undergoing cataract surgery in the University Hospitals of Puerta del Mar and Puerto Real (Cadiz), in 2013-14. Outcome measurements included sociodemographic characteristics, visual acuity (VA), symptoms secondary to cataract, ocular comorbidity, waiting time, expertise of surgeon (consultant vs. trainee), rate and type of surgical complications. The median age at surgery was 73.92±7.31. Almost all (98.3%) of patients at consultation had a VA ≥0.60logMAR, with a mean pre-surgical VA of 1.01logMAR (0.92-1.10). There was a 6.7% complication rate, with 3.8% posterior capsule ruptures and 2.8% corneal decompensations. No cases of endophthalmitis occurred. The mean post-operative VA was 0.28logMAR (0.22-0.33). More than three-quarters (78.8%) of cases achieved a post-operative VA ≤0.3logMAR, and 27.6% of cases achieved a VA ≤0.0logMAR. Our success rate was inferior to the EUREQUO and RCOphth NOD studies, with the percentage of patients acquiring a postoperative VA ≤0.3logMAR being 98% and 89%, respectively. However, the populations were not comparable. It is hoped that this study will encourage other public hospitals in Spain to undertake audits and share their results, in order to provide a tool for constructive criticism and quality improvement initiatives. Copyright © 2018 Sociedad Española de Oftalmología. All rights reserved.

  18. Intraoperative and Early Postoperative Complications of Manual Sutureless Cataract Extraction

    International Nuclear Information System (INIS)

    Iqbal, Y.; Zia, S.; Mirza, A. B.

    2014-01-01

    Objective: To determine the intraoperative and early postoperative complications of manual sutureless cataract extraction. Study Design: Case series. Place and Duration of Study: Redo Eye Hospital, Rawalpindi, Pakistan, from January 2009 to December 2010. Methodology: Three hundred patients of cataract through purposive non-probability sampling were selected. The patients underwent manual sutureless cataract surgery (MSCS) by single experienced surgeon and intraoperative complications were documented. The surgical technique was modified to deal with any intraoperative complications accordingly. Patients were examined on the first postoperative day and on the first postoperative week for any postoperative complications. The data was entered in Statistical Package for Social Sciences (SPSS) version 13.0 and the results were calculated in frequencies. Results: Among the 300 cases, 81.3% surgeries went uneventful whereas 18.6% had some complication. The common intraoperative complications were superior button-hole formation in 5%; posterior capsular rent in 5% and premature entry with iris prolapse in 3% cases. Postoperatively, the commonly encountered complications were striate keratopathy in 9.6% and hyphema 9%. At first week follow-up, 4% had striate keratopathy and 0.6% had hyphema. Striate keratopathy resolved with topical medication on subsequent follow-up. A total of 9 cases (3%) underwent second surgery: 2 cases for lens matter wash, 2 cases for hyphema and 5 cases needed suturing of wound for shallow anterior chamber due to wound leak. Conclusion: Superior button-hole formation, posterior capsular rent and premature entry were the common intraoperative complications of MSCS whereas the common early postoperative complications were striate keratopathy and hyphema. (author)

  19. Incidence of environmental and genetic factors causing congenital cataract in Children of Lahore.

    Science.gov (United States)

    Naz, Shagufta; Sharif, Saima; Badar, Hafsa; Rashid, Farzana; Kaleem, Afshan; Iqtedar, Mehwish

    2016-07-01

    To check the incidence of environmental and genetic factors causing congenital cataract in infants. The descriptive study was conducted at Layton Rahmatullah Benevolent Trust, Lahore, Pakistan, from October 2013 to April 2014, and comprised children under 15 years of age who had rubella syndrome, herpes simplex, birth trauma, trisomy 21, Nance-Horan syndrome or Lowe's syndrome. Of the 38,000 cases examined, 120(0.3%) patients were diagnosed with congenital cataract. Of them, 52(43.33%)were aged between 2 and 5 years,22(18.33%) <11 years and 10(8.33%) ?15 years. Bilateral congenital cataract was observed in 91(75.83%) patients and unilateral congenital cataract in 29(24.17%). Environmental factors caused 72(62.07%) cases and genetic factors caused 44(37.93%).. Congenital cataract predominated in boys compared to girls. Early diagnosis and adequate therapy requires specific technology, as well as long-term and permanent care..

  20. Efficacy of biodegradable curcumin nanoparticles in delaying cataract in diabetic rat model.

    Science.gov (United States)

    Grama, Charitra N; Suryanarayana, Palla; Patil, Madhoosudan A; Raghu, Ganugula; Balakrishna, Nagalla; Kumar, M N V Ravi; Reddy, Geereddy Bhanuprakash

    2013-01-01

    Curcumin, the active principle present in the yellow spice turmeric, has been shown to exhibit various pharmacological actions such as antioxidant, anti-inflammatory, antimicrobial, and anti-carcinogenic activities. Previously we have reported that dietary curcumin delays diabetes-induced cataract in rats. However, low peroral bioavailability is a major limiting factor for the success of clinical utilization of curcumin. In this study, we have administered curcumin encapsulated nanoparticles in streptozotocin (STZ) induced diabetic cataract model. Oral administration of 2 mg/day nanocurcumin was significantly more effective than curcumin in delaying diabetic cataracts in rats. The significant delay in progression of diabetic cataract by nanocurcumin is attributed to its ability to intervene the biochemical pathways of disease progression such as protein insolubilization, polyol pathway, protein glycation, crystallin distribution and oxidative stress. The enhanced performance of nanocurcumin can be attributed probably to its improved oral bioavailability. Together, the results of the present study demonstrate the potential of nanocurcumin in managing diabetic cataract.

  1. Small eyes big problems: is cataract surgery the best option for the nanophthalmic eyes

    International Nuclear Information System (INIS)

    Utman, S.A.K.

    2013-01-01

    Nanophthalmos refers to an eyeball of short axial length, usually less than 20 mm which leads to angle closure glaucoma due to relatively large lens. Intra-ocular lens extraction relieves the angle closure in nanophthalmos. Cataract surgery in a nanophthalmic eye is technically difficult with high risk of complications such as posterior capsular rupture, uveal effusion, choroidal haemorrhage, vitreous haemorrhage, malignant glaucoma, retinal detachment and aqueous misdirection. Various options are explained in the literature to perform cataract surgery in nanophthalmos, like extracapsular cataract extraction with or without sclerostomy; small-incision cataract extraction by phacoemulsification which not only helps maintain the anterior chamber during surgery but also reduces the incidence of complications due to less fluctuation of intraocular pressure (IOP) during the surgery. Cataract surgery deepens and widens the anterior chamber angle in nanophthalmic eyes and has beneficial effects on IOP in eyes with nanophthalmos but is associated with a high incidence of complications. (author)

  2. Feasibility and Complications between Phacoemulsification and Manual Small Incision Surgery in Subluxated Cataract

    Science.gov (United States)

    Goel, Ruchi; Kamal, Saurabh; Kumar, Sushil; Kishore, Jugal; Malik, K. P. S.; Angmo Bodh, Sonam; Bansal, Smriti; Singh, Madhu

    2012-01-01

    Purpose. To compare the feasibility of cataract surgery with implantation of endocapsular supporting devices and intraocular lens (IOL) in subluxated cataract in phacoemulsification and manual small incision cataract surgery (MSICS). Design. Prospective randomized intervention case series consisting of 60 eyes with visually significant subluxated cataract. Method. The patients were randomly distributed between the two groups equally. The main outcome measure was implantation of in-the-bag IOL, requirement of additional procedure and complications, if any. Results. Capsular bag retention in subluxated lenses is possible in 90% cases in phacoemulsification versus 76.67% cases in MSICS (P = 0.16). Both groups, achieved similar best corrected visual acuity (P = 0.73), although additional procedures, intraoperative, and postoperative complications were more common in MSICS. Conclusions. Achieving intact capsulorhexis and nuclear rotation in MSICS may be difficult in cases with large nucleus size and severe subluxation, but subluxated cataracts can be effectively managed by both phacoemuslification and MSICS. PMID:22523646

  3. Feasibility and Complications between Phacoemulsification and Manual Small Incision Surgery in Subluxated Cataract

    Directory of Open Access Journals (Sweden)

    Ruchi Goel

    2012-01-01

    Full Text Available Purpose. To compare the feasibility of cataract surgery with implantation of endocapsular supporting devices and intraocular lens (IOL in subluxated cataract in phacoemulsification and manual small incision cataract surgery (MSICS. Design. Prospective randomized intervention case series consisting of 60 eyes with visually significant subluxated cataract. Method. The patients were randomly distributed between the two groups equally. The main outcome measure was implantation of in-the-bag IOL, requirement of additional procedure and complications, if any. Results. Capsular bag retention in subluxated lenses is possible in 90% cases in phacoemulsification versus 76.67% cases in MSICS (=0.16. Both groups, achieved similar best corrected visual acuity (=0.73, although additional procedures, intraoperative, and postoperative complications were more common in MSICS. Conclusions. Achieving intact capsulorhexis and nuclear rotation in MSICS may be difficult in cases with large nucleus size and severe subluxation, but subluxated cataracts can be effectively managed by both phacoemuslification and MSICS.

  4. Operating Room Performance Improves after Proficiency-Based Virtual Reality Cataract Surgery Training

    DEFF Research Database (Denmark)

    Thomsen, Ann Sofia Skou; Bach-Holm, Daniella; Kjærbo, Hadi

    2017-01-01

    PURPOSE: To investigate the effect of virtual reality proficiency-based training on actual cataract surgery performance. The secondary purpose of the study was to define which surgeons benefit from virtual reality training. DESIGN: Multicenter masked clinical trial. PARTICIPANTS: Eighteen cataract...... surgeons with different levels of experience. METHODS: Cataract surgical training on a virtual reality simulator (EyeSi) until a proficiency-based test was passed. MAIN OUTCOME MEASURES: Technical performance in the operating room (OR) assessed by 3 independent, masked raters using a previously validated...... task-specific assessment tool for cataract surgery (Objective Structured Assessment of Cataract Surgical Skill). Three surgeries before and 3 surgeries after the virtual reality training were video-recorded, anonymized, and presented to the raters in random order. RESULTS: Novices (non...

  5. Postoperative Endophthalmitis Caused by Staphylococcus haemolyticus following Femtosecond Cataract Surgery

    OpenAIRE

    Wong, Margaret; Baumrind, Benjamin R.; Frank, James H.; Halpern, Robert L.

    2015-01-01

    A 53-year-old Caucasian man underwent femtosecond cataract surgery and then presented with pain and hand motions vision 1 day following surgery. Anterior segment examination showed a 2-mm-layered hypopyon, a well-centered intraocular lens in the sulcus, and an obscured view to the fundus. B-scan ultrasonography showed significant vitritis and that the retina was attached. A tap and an injection of vancomycin 1 mg per 0.1 ml and of ceftazidime 2.25 mg per 0.1 ml were performed. The tap eventua...

  6. Prevalence de la cataracte senile dans une population rurale du ...

    African Journals Online (AJOL)

    But: Evaluer la prévalence de la cataracte sénile dans le canton de Kévé, préfecture de l'Avé au Togo. Méthodologie: Il s'agit d'une étude transversale dans trois villages et le centre ville de Kévé. Les patients étaient regroupés et examinés à la lumière du jour à l'aide d'une lampe torche et un ophtalmoscope direct à piles ...

  7. Dr. William O. Coffee and his absorption cure for cataract.

    Science.gov (United States)

    Ferry, A P

    1989-08-01

    Dr. William O. Coffee was an ophthalmologist who conducted an office and mail-order practice in the Midwest from the 1880s until 1927. His main stock in trade was a self-discovered absorption cure for a variety of ocular diseases, with particular emphasis on the medical cure of cataracts. Dr. Coffee's career was a checkered one, marked by dubious credentials, exuberant self-promotion, unlikely and exaggerated claims of medical successes, plagiarism, and rejection by the medical "establishment." Certain parallels may be drawn between his activities and some currently observed practices in ophthalmology.

  8. Blindness and cataract in children in developing countries

    Directory of Open Access Journals (Sweden)

    Parikshit Gogate

    2009-03-01

    Full Text Available Blindness in children is considered a priority area for VISION 2020, as visually impaired children have a lifetime of blindness ahead of them. Various studies across the globe show that one-third to half of childhood blindness is either preventable or treatable1 and that cataract is the leading treatable cause of blindness in children.The 8th General Assembly of the International Agency for the Prevention of Blindness (IAPB provided an opportunity to be acquainted with recent research and programme development work in the prevention of childhood blindness.

  9. Femtosecond laser-assisted cataract surgery and implantable miniature telescope

    Directory of Open Access Journals (Sweden)

    Randal Pham

    2017-09-01

    Conclusions and importance: To our knowledge and confirmed by the manufacturer of the implantable miniature telescope this is the first case ever reported of a patient who has undergone femtosecond laser cataract surgery with corneal astigmatism correction and implantation of the implantable miniature telescope. This is also the first case report of the preoperative use of microperimetry and visual electrophysiology to evaluate a patient's postoperative potential visual acuity. The success of the procedure illustrated the importance of meticulous preoperative planning, the combined use of state-of-the-art technologies and the seamless teamwork in order to achieve the best clinical outcome for patients who undergo implantation of the implantable miniature telescope.

  10. Investigation of metal elements in cataract patients using hair samples

    International Nuclear Information System (INIS)

    Verma, Manjula; Nath Verma, Vishwa

    2008-01-01

    This investigation is confined to the study of hair samples from cataract victims. Hair mineral analysis is an analytical test, which measures the mineral content of the hair. The main purpose of this research is to make a relationship between the deposition of metals (listed above) and that of human cataract. This research is carried out on the basis to check for the imbalance of these metals deposited in the human body. These hair samples underwent normal acid digestion and atomic absorption for each metal was taken. As a result the concentrations of these metals were further analyzed to make a proper justification of the various metals that was assessed lead, zinc, magnesium and iron said to be the most predominant in relation to the other metals that was analyzed. The deposition of these metals in high concentration does not necessary mean that they are not the main reason for the development of human cataract.The sampled hair, obtained by cutting the first inch and one-half growth closest to the scalp at the nape of the neck or other part of the body. Testing is then performed using highly sophisticated detection equipment such Atomic Absorption Spectroscopy to achieve the most accurate precise results. These elements were analyzed using a Varian 20 plus Atomic Absorption Spectrometer. Approximately 0.1 g of the hair sample was placed at the bottom of a 250 ml round bottom flask which was attached to a reflux condenser. The sample was digested with 4 ml H2 SO4 (98%) and 4 ml HNO3 (69%) on moderate heat for approximately 30 minutes or until the hair was completely dissolved to a yellow solution. 3 ml of 30% hydrogen peroxide (H2O2) were then added and the mixture was heated for 30 minutes to clear the solution. Various metals such as lead, zinc, copper, cadmium, magnesium, iron, chromium and cobalt were tested for in the hair sample of cataract patients using atomic absorption spectrometry. (Author)

  11. Características clínicas y epidemiológicas de la catarata congénita e infantil Clinical and epidemiological characteristics of the congenital and infantile cataract

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    Merixy Charón Milián

    2012-12-01

    out in "William Soler" pediatric hospital from January 2004 to June 2006. The following variables were analyzed; age, sex, origin, way of detection, symptoms, risk factors, location, likely etiology and laterality of cataract, associated eye disturbances and post-surgical vision. The results were given as means and percentages. Results: the average age was 4.9 years, but for those children under one year old, it was 6.6 months. Males (60.25 %, patients from La Habana province (25.4 %, medical referral as the way of detection (71.43 %, leukocoria (30.15 %, multiple congenital anomalies (34.92 %, central location of cataract (44.44 %, the idiopathic cause (41.27 % and bilateral cataract (66.67 % were all predominant. Another kind of associated ocular anomaly was found in 34.92 % of patients whereas 59.04 % of operated eyes reached 0.7-1.0 vision. Conclusions: in the analyzed series, under 2 months children, males, patients from La Habana province, medical referral, leukocoria and associated multiple congenital anomalies, the central location of cataract were prevalent; the possible etiology of bilateral cataract was hereditary origin whereas the cause of unilateral cataract was unknown. The post-surgical visual improvement was greater as the patient's age was younger at the time of surgery.

  12. REVIEW OF CATARACT SURGERY FROM 1998 TO 2001 AT THE MURSKA SOBOTA GENERAL HOSPITAL EYE DEPARTMENT

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    Mitja Šterman

    2003-05-01

    Full Text Available Background. Cataract is a leading cause of a reversible blindness in a developed world. The number of cataract surgery procedures performed has been increasing. This study describes methods and cataract surgery quality in Pomurje region, Slovenia from 1998 to 2001, to identify the need for cataract surgical service in this region.Methods. For the purposes of this study, data from medical documentation of all 1182 cataract surgery procedures performed in Murska Sobota Eye Department from 1998 to 2001 were obtained.Results. The rate of cataract surgery has increased from 1.5 to 3.3 per 1000 inhabitants during the observed period. The percentage of glaucoma and diabetes in operated patients has grown in this period. Extracapsular cataract extraction has been replaced by phacoemulsification. In 2001, 95.5% of procedures was performed by phacoemulsification and in 99.0% of cases intraocular lenses were implanted during the surgery. The average pre-operative visual acuity was 0.05 in 1998, 0.11 in 1999, 0.16 in 2000 and 0.22 in 2001. The average waiting period for surgery was 3 months in 1998 and 16 months in 2001.Uncorrected post-operative visual acuity of 1.0 was achieved in 29% and in 50% surgical procedures in years of 1998 and 2001, respectively. The number of complications decreased.Conclusions. A number of cataract surgeries increased and their outcomes showed a considerable improvement. At the same time, real patient needs weren’t addressed as waiting time for surgery increased. Waiting time for surgery has increased. It is to be feared that the number of patients, waiting for the cataract surgery, will increase unless the number of procedures increases. The number of procedures allowed to be performed is too low compared to the number of patients with cataracts.

  13. Cataract after total body irradiation and bone marrow transplantation degree of visual impairment

    International Nuclear Information System (INIS)

    Kempen-Harteveld, M. Loes van; Struikmans, Henk; Kal, Henk B.; Tweel, Ingeborg van der; Mourits, Maarten P.; Verdonck, Leo F.; Schipper, Jan; Battermann, Jan J.

    2002-01-01

    Purpose: To assess the degree of visual impairment as a result of cataract formation after total body irradiation (TBI) for bone marrow transplantation. Methods and Materials: The data from 93 patients who received TBI in 1 or 2 fractions as a part of their conditioning regimen for bone marrow transplantation were analyzed with respect to the degree of visual impairment as a result of cataract formation. The probability to develop severe visual impairment (SVI) was determined for all patients, and the degree of visual impairment was assessed for 56 patients with stabilized cataract, using three categories: no, mild, or severe. Results: For all 93 patients, the probability of developing a cataract causing SVI was 0.44. For allogeneic patients, it was 0.33 without and 0.71 with steroid treatment (p<0.001). All SVI-free probability curves reached a plateau distinct from the cataract-free curves. Apparently, cataracts developing late in the follow-up period rarely cause SVI. Of the patients with stabilized cataract, 32% had no visual impairment, 16% had mild, and 52% severe impairment. No or mild visual impairment was present in 61% of all patients with stable cataract and no steroid treatment compared with only 13% of the patients treated with steroids (p=0.035). Conclusion: SVI occurs in only some of the patients (52%) with stable cataract after TBI for bone marrow transplantation in 1 or 2 fractions. Steroid treatment markedly increases the probability of developing visual problems as result of a cataract after TBI

  14. Task shifting for cataract surgery in eastern Africa: productivity and attrition of non-physician cataract surgeons in Kenya, Malawi and Tanzania.

    Science.gov (United States)

    Eliah, Edson; Lewallen, Susan; Kalua, Khumbo; Courtright, Paul; Gichangi, Michael; Bassett, Ken

    2014-01-01

    This project examined the surgical productivity and attrition of non-physician cataract surgeons (NPCSs) in Tanzania, Malawi, and Kenya. Baseline (2008-9) data on training, support, and productivity (annual cataract surgery rate) were collected from officially trained NPCSs using mailed questionnaires followed by telephone interviews. Telephone interviews were used to collect follow-up data annually on productivity and semi-annually on attrition. A detailed telephone interview was conducted if a surgeon left his/her post. Data were entered into and analysed using STATA. Among the 135 NPCSs, 129 were enrolled in the study (Kenya 88, Tanzania 38, and Malawi 3) mean age 42 years; average time since completing training 6.6 years. Employment was in District 44%, Regional 24% or mission/ private 32% hospitals. Small incision cataract surgery was practiced by 38% of the NPCSs. The mean cataract surgery rate was 188/year, median 76 (range 0-1700). For 39 (31%) NPCSs their surgical rate was more than 200/year. Approximately 22% in Kenya and 25% in Tanzania had years where the cataract surgical rate was zero. About 11% of the surgeons had no support staff. High quality training is necessary but not sufficient to result in cataract surgical activity that meets population needs and maintains surgical skill. Needed are supporting institutions and staff, functioning equipment and programs to recruit and transport patients.

  15. αA crystallin may protect against geographic atrophy-meta-analysis of cataract vs. cataract surgery for geographic atrophy and experimental studies.

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    Peng Zhou

    Full Text Available BACKGROUND: Cataract and geographic atrophy (GA, also called advanced "dry" age-related macular degeneration are the two major causes of visual impairment in the developed world. The association between cataract surgery and the development of GA was controversial in previous studies. METHODS/PRINCIPAL FINDINGS: We performed a meta-analysis by pooling the current evidence in literature and found that cataract is associated with an increased risk of geographic atrophy with a summary odds ratio (OR of 3.75 (95% CI: 95% CI: 1.84-7.62. However, cataract surgery is not associated with the risk of geographic atrophy (polled OR=3.23, 95% CI: 0.63-16.47. Further experiments were performed to analyze how the αA-crystallin, the major component of the lens, influences the development of GA in a mouse model. We found that theαA-crystallin mRNA and protein expression increased after oxidative stress induced by NaIO(3 in immunohistochemistry of retinal section and western blot of posterior eyecups. Both functional and histopathological evidence confirmed that GA is more severe in αA-crystallin knockout mice compared to wild-type mice. CONCLUSIONS: Therefore, αA-crystallin may protect against geographic atrophy. This study provides a better understanding of the relationship between cataract, cataract surgery, and GA.

  16. Clinical observation of small-incision extracapsular cataract extraction with intraocular lens implantation for the treatment of cataract in the sight restoration project

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    Xiao-Jian Cheng

    2014-04-01

    Full Text Available AIM: To analyze the clinical effects of small-incision extracapsular cataract extraction with intraocular lens implantation for the treatment of cataract.METHODS:Totally 642 cases 676 eyes of cataract were treated by small-incision extracapsular cataract extraction with intraocular lens implantation. Complication during and after operations and postoperative visual acuity was observed.RESULTS:Visual acuity of 670 eyes was ≥0.05 and off-blindness rate was 99.11%, and there was 627 eyes ≥0.3 and the off-disability rate was 92.75% after 1mo. Rupture of posterior capsule during surgery occurred in 24 eyes. Fifty-four eyes were corneal edema, and anterior chamber exudation were 26 eyes, and 23 eyes were hypertension after operation. CONCLUSION: There are a little complications during and after operation for cataract treated by small-incision extracapsular cataract extraction with intraocular lens implantation. Patients have good recovery after operation. This operation does not need high-standard equipments and is suitable in the sight restoration project.

  17. Effects Of Erdosteine On Oxidative-Antioxidative Equilibrium And On Cataract Formation In Rat Pups With Selenite-Induced Cataract

    OpenAIRE

    Kılıç, Adil; Selek, Şahbettin; Erel, Özcan

    2015-01-01

    Aim: To investigate whether erdosteine supplementation following selenite exposure affects oxidant-antioxidant equilibrium and prevents cataract formation in rat pups. Methods: Thirty-nine Wistar-albino rat pups were divided into 3 groups. In Group 1 (n=16) only s.c saline was injected. In Group 2 (n=10) subcutaneous (s.c.) sodium selenite (30 nmol / g body weight) was injected on postpartum day 10. In Group 3 (n=13) s.c. sodium selenite (30 nmol/g body weight) were injected on postpartum day...

  18. A broadly applicable surgical teaching method: evaluation of a stepwise introduction to cataract surgery.

    Science.gov (United States)

    Kloek, Carolyn E; Borboli-Gerogiannis, Sheila; Chang, Kenneth; Kuperwaser, Mark; Newman, Lori R; Lane, Anne Marie; Loewenstein, John I

    2014-01-01

    Although cataract surgery is one of the most commonly performed surgeries in the country, it is a microsurgical procedure that is difficult to learn and to teach. This study aims to assess the effectiveness of a new method for introducing postgraduate year (PGY)-3 ophthalmology residents to cataract surgery. Hospital-based ophthalmology residency program. Retrospective cohort study. PGY-3 and PGY-4 residents of the Harvard Medical School Ophthalmology Residency from graduating years 2010 to 2012. In July 2009, a new method of teaching PGY-3 ophthalmology residents cataract surgery was introduced, which was termed "the stepwise introduction to cataract surgery." This curriculum aimed to train residents to perform steps of cataract surgery by deliberately practicing each of the steps of surgery under a structured curriculum with faculty feedback. Assessment methods included surveys administered to the PGY-4 residents who graduated before the implementation of these measures (n = 7), the residents who participated in the first and second years of the new curriculum (n = 16), faculty who teach PGY-4 residents cataract surgery (n = 8), and review of resident Accreditation Council for Graduate Medical Education surgical logs. Resident survey response rate was 100%. Residents who participated in the new curriculum performed more of each step of cataract surgery in the operating room, spent more time practicing each step of cataract surgery on a cataract surgery simulator during the PGY-3 year, and performed more primary cataract surgeries during the PGY-3 year than those who did not. Faculty survey response rate was 63%. Faculty noted an increase in resident preparedness following implementation of the new curriculum. There was no statistical difference between the precurriculum and postcurriculum groups in the percentage turnover of cataracts for the first 2 cataract surgery rotations of the PGY-4 year of training. The introduction of cataract surgery to PGY-3 residents

  19. Mechanisms and management of dry eye in cataract surgery patients.

    Science.gov (United States)

    Sutu, Christine; Fukuoka, Hideki; Afshari, Natalie A

    2016-01-01

    To provide a summary of the mechanisms that may cause dry eye after cataract surgery and discuss available and upcoming treatment modalities. Development or worsening of dry eye symptoms after cataract surgery is multifactorial with corneal nerve transection, inflammation, goblet cell loss, and meibomian gland dysfunction commonly cited as underlying disorders. With increasing awareness of the prevalence of dry eye disease, current surgical techniques are being analyzed for their contribution to the issue. Although many classic interventions, such as artificial tears and anti-inflammatory drops, remain first-line treatment options, they may not adequately address abnormalities of the tear film. The trend has been to create new drugs and technologies that target meibomian gland deficiencies and restore goblet cell numbers. Therapy for postoperative dry eye symptoms should be determined based on symptom severity and which underlying cause is most prominent at a given time. Patients with high-level risk factors for dry eye should be evaluated preoperatively to determine whether they have preexisting dry eye disease or if they are susceptible to developing disease after surgery.

  20. Encephalitozoon cuniculi causes focal anterior cataract and uveitis in dogs.

    Science.gov (United States)

    Nell, B; Csokai, J; Fuchs-Baumgartinger, A; Maaß, G

    2015-01-01

    Three mongrel dogs, aged 10 months (case 1), 14 months (case 2) and 7.5 years (case 3), were presented because of ophthalmologic disorders of 4 months, 6 months and 7 years duration, respectively. All three dogs were offspring of stray dogs from Hungary and Serbia and had positive serum antibody titres against Encephalitozoon (E.) cuniculi. The two young dogs showed unilateral, the older dog bilateral chronic anterior uveitis with posterior synechia and focal anterior cortical cataract. The fundi that could be evaluated developed focal tapetal hyporeflective lesions in the course of the disease. Dogs 1 and 2 underwent removal of the lens via phacoemulsification. PCR of the lens material was positive for E. cuniculi strains IV and II, respectively. In dog 2 findings suggestive of microsporidia were detected underneath the anterior lens capsule by immunohistochemical staining. In all cases medical treatment consisted of systemic fenbendazole, prednisolone, and topical anti-inflammatory drugs, and additional brinzolamid/timolol for dog 3. For the time being all cases (follow up 23 months, 6 months and 3 months, respectively) are still on topical anti-inflammatory therapy. It is concluded that E. cuniculi infections can cause cataract and chorioretinal lesions in dogs.