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Sample records for hereditary crygs-mutated cataractous

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

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    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.

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

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    Arcioni, Francesco; Cerri, Carla; La Starza, Roberta; Romanelli, Donatella; Capolsini, Ilaria; Caniglia, Maurizio

    2013-01-01

    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. PMID:24368960

  3. Aqueous humor ferritin in hereditary hyperferritinemia cataract syndrome.

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    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.

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

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    Hansen, Lars; Mikkelsen, Annemette; Nürnberg, Peter

    2009-01-01

    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 presente...

  5. Raised serum ferritin concentration in hereditary hyperferritinemia cataract syndrome is not a marker for iron overload.

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    Yin, Dan; Kulhalli, Vasu; Walker, Ann P

    2014-03-01

    Hyperferritinemia and bilateral cataracts are features of the rare hereditary hyperferritinemia cataract syndrome (HHCS; OMIM #600886). HHCS is an autosomal dominant condition caused by mutations which increase expression of the ferritin light polypeptide (FTL) gene. We report a patient with HHCS who was misdiagnosed and treated as having hemochromatosis, in whom a heterozygous c.-160A>G mutation was identified in the iron responsive element (IRE) of FTL, causing ferritin synthesis in the absence of iron overload. This report demonstrates the need for clinical awareness of HHCS as a cause of hyperferritinemia in the absence of iron overload and provides a possible diagnostic schema. © 2014 The Authors. HEPATOLOGY published by Wiley on behalf of the American Association for the Study of Liver Diseases.

  6. 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.

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

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    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.

  8. Síndrome hereditario de hiperferritinemia y catarata Hereditary syndrome of hyperferritinemia and cataract

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    J. Andonegui

    2007-08-01

    Full Text Available Se describe a una familia con el síndrome hereditario de hiperferritinemia y catarata. La herencia es autonómica dominante y las características clínicas de este síndrome son cataratas familiares de aparición temprana y aumento de los niveles séricos de ferritina, siendo normales el resto de estudios relacionados con el hierro y de parámetros hematológicos. Es importante difundir el conocimiento de esta entidad para diagnosticar nuevos casos y evitar pruebas diagnósticas innecesarias o tratamientos inadecuados.This report describes a family with hereditary hyperferritinemia cataract syndrome. Inheritance is autosomal dominant and clinical characteristics of this syndrome are familial cataracts of early development and elevated serum ferritin levels but otherwise normal iron studies and haematological parameters. It is important to increase awareness of this entity in order to diagnose new cases and avoid unnecessary diagnostic tests and inadequate treatments.

  9. Hereditary and histologic characteristics of the CF1/b cac mouse cataract model.

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    Kondo, Tomohiro; Nagai, Hiroaki; Kawashima, Takamune; Taniguchi, Yusuke; Koyabu, Nozomu; Takeshita, Ai; Kusakabe, Ken-Takeshi; Okada, Toshiya

    2014-10-01

    A substrain of mice originating from the CF1 strain (an outbred colony) reared at Osaka Prefecture University (CF1/b cac mice) develops cataracts beginning at 14 d old. Affected mice were fully viable and fertile and had developed cataracts by 22 d of age. The incidence of cataracts did not differ between male and female mice. Histologically, 14-wk-old CF1/b cac mice showed vacuolated lens epithelial cells, swollen lens fibers, many pyknotic nuclei, and vacuolation of the lens cortex. To elucidate the mode of inheritance, we analyzed heterozygous mutants hybrids generated from CF1/b cac and wildtype BALB/c mice and the offspring of the backcrossed heterozygous mutants. None of the heterozygous mutants was affected, but the ratio of affected to unaffected mice was 1:3 among the offspring of the heterozygous mutants. The initial genomewide screen of 20 affected backcrossed offspring (CF1/b cac × [CF1/b cac × BALB/c]) indicated that the mutant gene resides on chromosome 16. For further mapping, we used affected progeny of CF1/b cac × (CF1/b cac × MSM/Ms) mice. We concluded that the cataracts in CF1/b cac mice are inherited through an autosomal recessive mutation and that the mutant gene is located on mouse chromosome 16 between D16Mit5 and D16Mit92 and between D16Mit92 and D16Mit201. The mapping of the mutant gene of the CF1/b cac mice to mouse chromosome 16 provides the positional information necessary to identify the candidate gene responsible for the CF1/b cac phenotype.

  10. Congenital Hereditary Cataracts and the Pathogenic Membrane Protein Gene%先天性遗传性白内障与致病膜蛋白基因

    Institute of Scientific and Technical Information of China (English)

    阮燕飞

    2013-01-01

    白内障的产生是大量基因通过不同机制相互作用导致突变的最终结果,大多数遗传性白内障与基因亚群有关,这些编码蛋白的基因对维持晶状体的透明性和稳定性起着至关重要的作用.连接晶状体上皮和成熟晶状体纤维细胞的缝隙连接及通道在阻止结构蛋白沉积和白内障形成中起着重要作用.%Cataract represents an end stage of mutations in a potentially plenty of genes acting through varied mechanisms. Most hereditary cataracts have been associated with a subgroup of genes which encode proteins of particular importance for the maintenance of lens transparency and homeostasis. A well-developed system of gap junctions and channels connecting lens epithelium and mature lens fiber cells is therefore important in preventing precipitation of cell structural proteins and cataract formation.

  11. Molecular genetics of cataract.

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    Kannabiran Chitra

    2000-01-01

    Full Text Available Studies on hereditary congenital cataracts have led to the identification of genes involved in formation of these cataracts. Knowledge of the structure and function of a particular gene and the effect of disease-associated mutations on its function are providing insights into the mechanisms of cataract. Identification of the disease gene requires both the relevant clinical data as well as genetic data on the entire pedigree in which the disease is found to occur. Genes for hereditary cataract have been mapped by genetic linkage analysis, in which one examines the inheritance pattern of DNA markers throughout the genome in all individuals of the pedigree, and compares those with the inheritance of the disease. Cosegregation of a set of markers with disease implies that the disease gene is present at the same chromosomal location as those markers. The genes so far identified for hereditary cataracts in both humans and animal models encode structural lens proteins, gap junction proteins, membrane proteins and regulatory proteins involved in lens development. Understanding of the mechanisms of hereditary cataract may also help us understand the manner in which environmental and nutritional factors act on the lens to promote opacification.

  12. "Ant-egg" cataract revisited

    DEFF Research Database (Denmark)

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

    2017-01-01

    PURPOSE: Hereditary congenital cataract varies immensely concerning location and form of the lens opacities. A specific and very rare phenotype is called "ant-egg" cataract first described in 1900. "Ant-eggs" have previously been examined using light microscopy, backscattered electron imaging and X......-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......-egg" structures in "ant-egg" cataract. Eighteen of these proteins are not natively found in the human lens. Moreover, "ant-eggs" do not vary over time, after cataract extraction, regarding size and location....

  13. Genetics of Congenital Cataract.

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    Pichi, Francesco; Lembo, Andrea; Serafino, Massimiliano; Nucci, Paolo

    2016-01-01

    Congenital cataract is a type of cataract that presents at birth or during early childhood, and it is one of the most easily treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1-6 cases per 10,000 live births. Approximately 50% of all congenital cataract cases may have a genetic cause, and such cases are quite heterogeneous. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains the most common cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of fiber cells and homeostasis of the lens proteins in terms of their concentrations, stabilities, and supramolecular organization. Research on hereditary congenital cataract has led to the identification of several classes of candidate genes that encode proteins such crystallins, lens-specific connexins, aquaporin, cytoskeletal structural proteins, and developmental regulators. In this review, we highlight the identified genetic mutations that account for congenital nuclear cataract.

  14. Cataract Surgery

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    ... and Videos: What Do Cataracts Look Like? Cataract Surgery Written By: Kierstan Boyd Reviewed By: Elena M ... how they work. What to expect with cataract surgery Before surgery: Your ophthalmologist will measure your eye ...

  15. Two cases of hereditary fructose intolerance.

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    Ananth, N; Praveenkumar, G S; Rao, K Aravind; Vasanthi; Kakkilaya, Srinivas

    2003-07-01

    Hereditary fructose intolerance is a rare cause of hepatic cirrhosis in the young. The disorder has a reported frequency of 1 in 20000 live births and no case has been reported from India so far. We report two cases of hereditary fructose intolerance, both with bilateral cataracts and one with cirrhosis of the liver.

  16. Facts about Cataract

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    ... Home > Eye Health Information > Cataract > Facts About Cataract Facts About Cataract This information was developed by the ... citizen to get this type of cataract. In fact, people can have an age-related cataract in ...

  17. Excessive hydrogen peroxide enhances the attachment of amyloid β1-42 in the lens epithelium of UPL rats, a hereditary model for cataracts.

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    Nagai, Noriaki; Ito, Yoshimasa

    2014-01-06

    findings provide significant information that can be used to design further studies aimed at developing anti-cataract drugs.

  18. Congenital cataract

    Science.gov (United States)

    ... EA, eds. Duane's Ophthalmology . 16th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2013:chap 74. Junk AK, Morris ... EA, eds. Duane's Ophthalmology . 16th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2013:chap 41. Read More Cataract - ...

  19. Hereditary spherocytosis

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    Weed, R.I.

    1975-10-01

    Studies of the clinical features of hereditary spherocytosis since 1871 and laboratory investigation of the cellular abnormalities since 1940 have led to the characterization of hereditary spherocytosis as a prime example of a Mendelian dominant, genetically determined disorder of the erythrocyte membrane. This review of hereditary spherocytosis emphasizes the contributions of Dr. Lawrence Young and many others to our present understanding of the disease and discusses current studies of the protein abnormality in the membrane of hereditary spherocytes.

  20. "Ant-egg" cataract revisited.

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    Clemmensen, Kåre; Enghild, Jan J; Ivarsen, Anders; Riise, Ruth; Vorum, Henrik; Heegaard, Steffen

    2017-01-01

    Hereditary congenital cataract varies immensely concerning location and form of the lens opacities. A specific and very rare phenotype is called "ant-egg" cataract first described in 1900. "Ant-eggs" have previously been examined using light microscopy, backscattered electron imaging and X-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. "Ant-eggs" were examined using Heidelberg SPECTRALIS Optical Coherence Tomography (OCT)(Heidelberg Engineering, Heidelberg, Germany). Ten "ant-eggs" were extracted; four of these as well as control tissue were analyzed by mass spectrometry (AB Sciex). Proteins were identified and their approximate abundances were determined. Immunohistochemical staining was carried out on the remaining "ant-eggs" for cytokeratin and S100. In anterior OCT-images, the "ant-egg" structures are localized on the iris. Comparative pictures showed that they stayed in the same location for more than 45 years. Mass spectrometry of "ant-eggs" yielded a proteome of 56 different proteins. Eighteen of the 56 "ant-egg" proteins (32 %) were neither present in our controls nor in a known fetal lens proteome. Among these were cytokeratin and Matrix-Gla protein. Immunohistochemical reactions were positive for cytokeratin and S100. This study demonstrates the previously unknown protein composition of the "ant-egg" structures in "ant-egg" cataract. Eighteen of these proteins are not natively found in the human lens. Moreover, "ant-eggs" do not vary over time, after cataract extraction, regarding size and location.

  1. Pediatric cataract: challenges and future directions

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    Medsinge A

    2015-01-01

    Full Text Available Anagha Medsinge,1,2 Ken K Nischal1,2 1Pediatric Ophthalmology, Strabismus, and Adult Motility, Children’s Hospital of Pittsburgh of University of Pittsburgh Medical Center, (UPMC 2University of Pittsburgh School of Medicine, Pittsburgh, PA, USA Abstract: Cataract is a significant cause of visual disability in the pediatric population worldwide and can significantly impact the neurobiological development of a child. Early diagnosis and prompt surgical intervention is critical to prevent irreversible amblyopia. Thorough ocular evaluation, including the onset, duration, and morphology of a cataract, is essential to determine the timing for surgical intervention. Detailed assessment of the general health of the child, preferably in conjunction with a pediatrician, is helpful to rule out any associated systemic condition. Although pediatric cataracts have a diverse etiology, with the majority being idiopathic, genetic counseling and molecular testing should be undertaken with the help of a genetic counselor and/or geneticist in cases of hereditary cataracts. Advancement in surgical techniques and methods of optical rehabilitation has substantially improved the functional and anatomic outcomes of pediatric cataract surgeries in recent years. However, the phenomenon of refractive growth and the process of emmetropization have continued to puzzle pediatric ophthalmologists and highlight the need for future prospective studies. Posterior capsule opacification and secondary glaucoma are still the major postoperative complications necessitating long-term surveillance in children undergoing cataract surgery early in life. Successful management of pediatric cataracts depends on individualized care and experienced teamwork. We reviewed the etiology, preoperative evaluation including biometry, choice of intraocular lens, surgical techniques, and recent developments in the field of childhood cataract. Keywords: children, pediatric cataract, infantile

  2. Cataract complications

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    David Yorston

    2008-03-01

    Full Text Available Any eye surgeon, no matter how experienced, will occasionally encounter a serious cataract complication. Although complications may be devastating for the patient and are always distressing for the surgeon, are they really a major issue for VISION 2020? The evidence says that they are.

  3. Clinical genetics and gene mapping studies on a family in the area of northeast with hereditary cataract%东北地区一遗传性白内障家系的临床遗传学及基因定位研究

    Institute of Scientific and Technical Information of China (English)

    张天晓; 马立威; 赵江月; 张学; 张劲松

    2013-01-01

    目的:分析一先天性核型白内障家系的遗传方式及致病基因所在位置.方法:收集一个3代遗传性白内障家系成员的临床资料;提取家系成员外周血DNA,选取62个态性微卫星标记进行连锁分析.应用LINKAGE软件 (version5.2) 中的MLINK程序计算两点连锁LOD值,并人工构建家系成员的单体型.结果:确定该家系为一常染色体显性遗传性白内障大家系,在微卫星标记D22S689可获得最大LOD值2.71(θ=0时),单体型提示该家系表型可能与染色体22q11.2-12.1区域连锁.该区域含有CRYBB1,CRYBB2,CRYBB3,CRYBA44个候选基因.结论:本研究先天性核型白内障家系符合常染色体显性遗传规律,其致病基因定位于22q11.2-12.1区域.%AIM: To map the causal gene of congenital nuclear cataract in a family in the area of northeast.METHODS: We investigated there generations of a Chinese family affected with hereditary cataract. Peripheral blood samples were collected from all of the family members, and genomic DNA was then extracted from the blood samples. Linkage analysis was performed using 62microsatellite markers. Two-point LOD scores (Z) were calculated using the LINKAGE programs (ver. 5.2). Haplotypes were constructed according to the allele information.RESULTS: The affected members in this family showed classic phenotype of autosomal dominant congenital cataract. The maximum two-point LOD score of 2. 71 was obtained for marker D22S689 (θ= 0). Haplotype analysis traced the disease gene on chromosome 22q11.2-12.1, containing CRYBB1, CRYBB2, CRYBB3, CRYBA4 genes.CONCLUSION: The occurrence of congenital nuclear cataract consistents with the autosomal dominant inherited regular, and the causal gene of congenital nuclear cataract localize at 22q11.2-12.1 in this family.

  4. 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 ...

  5. [Hereditary hemocromatosis].

    Science.gov (United States)

    Franchini, Massimo; Veneri, Dino

    2004-10-01

    Hereditary hemochromatosis is a disorder of iron metabolism characterized by a progressive tissue iron overload which leads to an irreversible organ damage if it is not treated timely. The recent developments in the field of molecular medicine have radically changed the physiopathology and the diagnosis of this disease. However, transferrin saturation and serum ferritin are still the most reliable tests for the detection of subjects with hereditary hemochromatosis. Therapeutic phlebotomy is the mainstay of the treatment of hereditary hemochromatosis. If phlebotomy is started before the onset of irreversible organ damages, the life expectancy of these patients is similar to that of normal population.

  6. The genetic and molecular basis of congenital cataract

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    Alessandro Santana

    2011-04-01

    Full Text Available Congenital cataracts are one of the most treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1 to 6 cases per 10,000 live births. Approximately fifty percent of all congenital cataract cases may have a genetic cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of the fiber cells and the homeostasis of the lens proteins in terms of their concentration, stability, and supramolecular organization. Research on hereditary congenital cataract led to the identification of several classes of candidate genes that encode proteins such crystallins, lens specific connexins, aquaporine, cytoskeletal structural proteins, and developmental regulators. The purpose of this study was to review the literature on the recent advances made in understanding the molecular genetic basis of congenital cataracts.

  7. Hereditary pancreatitis

    Institute of Scientific and Technical Information of China (English)

    Richard M Charnley

    2003-01-01

    Hereditary pancreatitis is an autosomal dominant condition,which results in recurrent attacks of acute pancreatitis,progressing to chronic pancreatitis often at a young age.The majority of patients with hereditary pancreatitis expressone of two mutations (R122H or N29I) in the cationictrypsinogen gene (PRSS1 gene). It has been hypothesisedthat one of these mutations, the R122H mutation causespancreatitis by altering a trypsin recognition site sopreventing deactivation of trypsin within the pancreas andprolonging its action, resulting in autodigestion. Families withthese two mutations have been identified in many countriesand there are also other rarer mutations, which have alsobeen linked to hereditary pancreatitis.Patients with hereditary pancreatitis present in the sameway as those with sporadic pancreatitis but at an earlierage. It is common for patients to remain undiagnosed formany years, particularly ifthey present with non-specificsymptoms. Hereditary pancreatitis should always beconsidered in patients who present with recurrent pancreatitiswith a family history of pancreatic disease. If patients withthe 2 common mutations are compared, those with theR122H mutation are more likely to present at a younger ageand are more likely to require surgical intervention than thosewith N29I. Hereditary pancreatitis carries a 40 % lifetimerisk of pancreatic cancer with those patients aged between50 to 70 being most at risk in whom screening tests maybecome important.

  8. Hereditary Diffuse Gastric Cancer

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    ... Hereditary Diffuse Gastric Cancer Request Permissions Hereditary Diffuse Gastric Cancer Approved by the Cancer.Net Editorial Board , 11/2015 What is hereditary diffuse gastric cancer? Hereditary diffuse gastric cancer (HDGC) is an inherited ...

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

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    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

  10. Hereditary spherocytosis.

    Science.gov (United States)

    Iolascon, A; Avvisati, R A; Piscopo, C

    2010-09-01

    Hereditary spherocytosis is a common hemolytic disorder characterized by a defect or deficiency in one or more of the proteins composing red blood cell membrane. As a result, red blood cells have an abnormal shape, higher metabolic requirements, and are prematurely trapped and destroyed in the spleen. Hereditary spherocytosis, including the very mild or subclinical forms, is the most common cause of non-immune hemolytic anemia among people of Northern European ancestry, with a prevalence of approximately 1 in 2000. However very mild forms of the disease may be much more common. Hereditary spherocytosis is inherited in a dominant fashion in 75% of cases, whereas the remaining are truly recessive cases and de novo mutations. This review reports current concepts on red cell membrane structure and it will attempt to clarify molecular defects leading to spherocyte and their consequences.

  11. [Hereditary neuropathies].

    Science.gov (United States)

    Vallat, Jean-Michel; Calvo, Judith; Ghorab, Karima; Tazir, Meriem

    2008-11-15

    Although there are many human hereditary neuropathies, most of them with the exception of Charcot-Marie-Tooth disease or hereditary sensorimotor neuropathy, are rare. Irrespective of their type, the mode of transmission may be autosomal dominant or recessive, or X-linked. The most difficult to diagnose, however, are the sporadic forms. It is customary to distinguish the cases in which the neuropathy is the sole clinical expression from multisystemic diseases where neuropathy is one component of multi-organ involvement. The complexity and the multiplicity of genes involved and the lack of understanding of their exact functions hinder logical presentation of these hereditary neuropathies. For understandable technical reasons, the stage of specific treatment, namely the repair of the mutated gene, has yet to be attained.

  12. Hereditary angioedema

    DEFF Research Database (Denmark)

    Peterson, M P; Bygum, A

    2016-01-01

    We report a 64-year-old man who suffered from recurrent visible swelling attacks since the age of 20 as well as episodes with severe upper airway edema, resulting in 4 emergency tracheotomies. Eventually after 44 years he was diagnosed with hereditary angioedema (HAE) type II. The aims...

  13. Hereditary Angioedema

    DEFF Research Database (Denmark)

    Abdel-Karim, Omar; Dizdarevic, Adis; Bygum, Anette

    2014-01-01

    Hereditary angioedema is an inherited disease that causes periodic swelling attacks, which can be life threatening and have a major effect on a patient's life. Studies have shown that home therapy for angioedema reduces disease severity, leads to faster relief of symptoms, and improves quality...

  14. Hereditary optic neuropathies share a common mitochondrial coupling defect.

    Science.gov (United States)

    Chevrollier, Arnaud; Guillet, Virginie; Loiseau, Dominique; Gueguen, Naïg; de Crescenzo, Marie-Anne Pou; Verny, Christophe; Ferre, Marc; Dollfus, Hélène; Odent, Sylvie; Milea, Dan; Goizet, Cyril; Amati-Bonneau, Patrizia; Procaccio, Vincent; Bonneau, Dominique; Reynier, Pascal

    2008-06-01

    Hereditary optic neuropathies are heterogeneous diseases characterized by the degeneration of retinal ganglion cells leading to optic nerve atrophy and impairment of central vision. We found a common coupling defect of oxidative phosphorylation in fibroblasts of patients affected by autosomal dominant optic atrophy (mutations of OPA1), autosomal dominant optic atrophy associated with cataract (mutations of OPA3), and Leber's hereditary optic neuropathy, a disorder associated with point mutations of mitochondrial DNA complex I genes. Interestingly, the energetic defect was significantly more pronounced in Leber's hereditary optic neuropathy and autosomal dominant optic atrophy patients with a more complex phenotype, the so-called plus phenotype.

  15. 先天性白内障一家系晶状体蛋白突变基因筛查%Screen of crystallin protein mutation genes in a hereditary congenital cataract family

    Institute of Scientific and Technical Information of China (English)

    李娟娟; 黎铧; 胡竹林

    2010-01-01

    With the development of biological techniques,the study on the pathogenesis of disease-causing genes of congenital cataracts has substantial progress.Some positive results of screen of mutation gene in congenital cataract family has been reported,but the report of negative result is rate.ObjectiveThe present study attempts to screen the mutation of CRYAA,CRYAB,CRYA1/A3,CRYBB2,CRYGC and CRYGD gene in a Chinese family with autosomal dominant congenital cataract. MethodsThe periphery blood samples were exacted from 8 patients of 4 generations of with congenital cataract in this family.The complete coding region and intron spliced sites of CRYAA,CRYAB,CRYA1/A3,CRYBB2,CRYGC and CRYGD were amplified with polymerase chain reaction (PCR),and the products of PCR were directly sequenced.The control blood samples were from 10 normal subjects.This study followed the Declaration of Helsinki.Written informed consent was obtained from all of the patients.ResultsThe patients were found in each generation in this family and the mode of inheritance was in accordance with the characteristic of autosomal dominant inheritance.The sequence of amplified genetic fragments of CRYAA,CRYAB,CRYA1/A3,CRYBB2,CRYGC and CRYGD genes were inaccordance with those of normal subjects and GeneBank.No any mutation loci was found in all of the patients of this family.ConclusionCRYAA,CRYAB,CRYA1/A3,CRYBB2,CRYGC and CRYGD genes is not the causing-disease genes in this family.%目的 对先天性白内障一家系进行晶状体蛋白致病基因的初步筛查.方法 通过聚合酶链反应(PCR)对先天性白内障一家系中4代8例患者进行CRYAA、CRYAB、CRYA1/A3、CRYBB2、CRYGC和CRYGD 6个候选基因的外显子及内含子扩增,扩增产物进行直接测序,测序结果与GeneBank中原始序列进行BLAST比对分析.结果 该家系每代均有先天性白内障患者,遗传方式为常染色体显性遗传.该家系的CRYAA、CRYAB、CRYA1/A3、CRYBB2、CRYGC和CRYGD 6个晶状体蛋白

  16. Hereditary hyperbilirubinemias

    Directory of Open Access Journals (Sweden)

    Radlović Nedeljko

    2014-01-01

    Full Text Available Inherited disorders of bilirubin metabolism involve four autosomal recessive syndromes: Gilbert, Crigler- Najjar, Dubin-Johnson and Rotor, among which the first two are characterized by unconjugated and the second two by conjugated hyperbilirubinemia. Gilbert syndrome occurs in 2%-10% of general population, while others are rare. Except for Crigler-Najjar syndrome, hereditary hyperbilirubinemias belong to benign disorders and thus no treatment is required.

  17. Hereditary spherocytosis

    Directory of Open Access Journals (Sweden)

    Meenakshi Kalyan

    2014-01-01

    Full Text Available Hereditary spherocytosis (HS is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from an asymptomatic condition to a fulminant hemolytic anemia. In severe cases, the disorder may present in early childhood, but in some cases it may go unnoticed until later in adult life. We present a 32-year-old male who presented with anemia, jaundice, splenomegaly, and gallstones. Seven of his family members had similar illness in the past. The Mother died of similar illness at the age of 40. The Blood film showed spherocytosis and reticulocytosis. There was increased osmotic fragility and a negative direct coomb′s test. He was given folic acid supplements and was advised for splenectomy and cholecystectomy. This case is reported due to its rarity in Indian population.

  18. Improvements in Cataract Surgery

    NARCIS (Netherlands)

    Nibourg, Lisanne Maria

    2016-01-01

    Cataract is the leading cause of blindness and visual impairment in the elderly. It involves lens opacification due to biochemical changes in the lens. Cataract surgery provides restoration of good vision by removal of the opaque lens, followed by implantation of an intraocular lens (IOL) in the rem

  19. CATARACTS IN IBADAN

    African Journals Online (AJOL)

    Subjects aged 50 years and above were examined for visual disabling central lens ... cases. Both cases and controls were examined and the risk for development of cataract .... with same set of questionnaires in the eye clinic by ... before visual impairment as a positive .... with cortical cataract in this study may be due to the.

  20. Cataract surgery - slideshow

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/presentations/100079.htm Cataract surgery - series—Normal anatomy To use the sharing features on this page, please enable JavaScript. Go to slide 1 out of 5 Go to slide ... 5 Overview The lens of an eye is normally clear. A cataract is when the lens becomes cloudy as you ...

  1. Training a cataract surgeon

    Directory of Open Access Journals (Sweden)

    M Babar Qureshi

    2014-07-01

    Full Text Available Training in cataract surgery is one of the key factors needed to ensure high quality cataract surgery with good visual outcomes and patient satisfaction. The training has to impart the right skills to the right person by the right trainer and in the right environment.

  2. [Lowe syndrome revealed by prenatal diagnosis of congenital cataract with brain abnormalities].

    Science.gov (United States)

    Zéphir, P; Decramer, S; Sartor, A; Vayssière, C

    2014-05-01

    Congenital cataract is a rare disease whose incidence is estimated to 0.5% of birth in France. A study of the literature shows that congenital cataract is idiopathic in 50% of cases, hereditary forms representing 25% of cases. Other causes of congenital cataract are represented by viral embryofoetopathies acquired during pregnancy, metabolic disorders and chromosomal aberrations within the scope of malformative syndromes. The authors report the case of a neonatal diagnosis of Lowe syndrome suspected by the discovery of bilateral cataract initially isolated. The morphological exploration was completed by secondary brain abnormalities (periventricular lesions). The etiological prenatal exploration was negative. Lowe syndrome is a rare cause of antenatal cataract, which so far only one case has been reported.

  3. 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.

  4. Blindness in schoolchildren: importance of heredity, congenital cataract, and prematurity.

    Science.gov (United States)

    Phillips, C I; Levy, A M; Newton, M; Stokoe, N L

    1987-08-01

    Of 99 children in the Royal Blind School, Edinburgh (which serves Scotland and part of N E England), 15 had optic atrophy (hydrocephalus 4, intracranial haemorrhage 2, prematurity 2, fetal distress 2, birth asphyxia 2, cerebral atrophy 1, cardiac arrest during hernia operation 1, and leukaemia 1). Fourteen had congenital cataract, 12 congenital retinal aplasia (Leber's congenital amaurosis) and 11 retinopathy of prematurity. There were small numbers in many other diagnostic categories, including three with non-accidental head injury. Mental retardation, spasticity, and nystagmus were frequent other correlates in all diagnostic categories. 'Very probably hereditary' was a conservative attribution in 36, while 'probable' seemed appropriate for 12-that is, almost 48% were hereditary. Only about 11 cases might have been prevented through genetic counselling, which testifies to the frequency of autosomal recessive hereditary disease, although no parents were consanguineous.

  5. Surgery for Congenital Cataract

    Directory of Open Access Journals (Sweden)

    David Yorston FRCS FRCOphth

    2004-01-01

    Full Text Available The management of congenital cataract is very different to the treatment of a routine age-related cataract. In adults, surgery may be delayed for years without affecting the visual outcome. In infants, if the cataract is not removed during the first year of life, the vision will never be fully regained after surgery. In adults, if the aphakia is not corrected immediately, it can be corrected later. In young children, if the aphakia is not corrected, the vision will never develop normally.

  6. Viscoless microincision cataract surgery

    Directory of Open Access Journals (Sweden)

    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

  7. Cataract Surgery Tool

    Science.gov (United States)

    1977-01-01

    The NASA-McGannon cataract surgery tool is a tiny cutter-pump which liquefies and pumps the cataract lens material from the eye. Inserted through a small incision in the cornea, the tool can be used on the hardest cataract lens. The cutter is driven by a turbine which operates at about 200,000 revolutions per minute. Incorporated in the mechanism are two passages for saline solutions, one to maintain constant pressure within the eye, the other for removal of the fragmented lens material and fluids. Three years of effort have produced a design, now being clinically evaluated, with excellent potential for improved cataract surgery. The use of this tool is expected to reduce the patient's hospital stay and recovery period significantly.

  8. Cataract and Cataract Surgery: Nationwide Prevalence and Clinical Determinants.

    Science.gov (United States)

    Park, Sang Jun; Lee, Ju Hyun; Kang, Se Woong; Hyon, Joon Young; Park, Kyu Hyung

    2016-06-01

    This study aimed to investigate the prevalence and clinical determinants of cataract and cataract surgery in Korean population. The 2008-2012 Korean National Health and Nutrition Examination Survey was analyzed, which included 20,419 participants aged ≥ 40 years. The survey is a multistage, probability-cluster survey, which can produce nationally representative estimates. Prevalence of cataract and cataract surgery was estimated. Clinical determinants for those were investigated using logistic regression analyses (LRAs). The prevalence of cataract was 42.28% (95% confidence interval [CI], 40.67-43.89); 40.82% (95% CI, 38.97-42.66) for men and 43.62% (95% CI, 41.91-45.33) for women (P = 0.606). The prevalence of cataract surgery was 7.75% (95% CI, 7.30-8.20); 6.38% (95% CI, 5.80-6.96) for men and 9.01% (95% CI, 8.41-9.61) for women (P Cataract was associated with older age (P Cataract surgery was consistently associated with older age, occupation, DM, asthma, and anemia in two LRAs, which compared participants with cataract surgery to those without cataract surgery and those having a cataract but without any cataract surgery, respectively. Hypertension, arthritis, and dyslipidemia were associated with cataract surgery at least in one of these LRAs. These results suggest that there are 9.4 million individuals with cataract and 1.7 million individuals with cataract surgery in Korea. Further studies are warranted to reveal the causality and its possible mechanism of developing/exacerbating cataract in novel determinants (i.e., anemia, asthma, and arthritic conditions) as well as well-known determinants.

  9. Methodology for studies on medical therapy of cataracts : cataract II

    Directory of Open Access Journals (Sweden)

    Sharma Y

    1989-01-01

    Full Text Available The methodology for testing any possible effect of potential anti-cataract agents is described. This is based on slit lamp and ophthalmoscopic cataract classification and on visual acuity. The difficulties encountered in such studies are highlighted. The presented methodology is suggested to be fairly adequate in assessing usefulness of any possible medical therapy of cataracts.

  10. The Pediatric Cataract Register (PECARE)

    DEFF Research Database (Denmark)

    Haargaard, Birgitte; Nyström, Alf; Rosensvärd, Annika

    2015-01-01

    PURPOSE: To analyse and discuss screening for the detection of congenital cataract in two Nordic countries, Denmark and Sweden. METHODS: Until 2011, in Denmark, no guideline concerning screening for congenital cataract existed. Since 2011, Danish guidelines regarding eye examination include...

  11. Combined cataract and strabismus surgery.

    Science.gov (United States)

    Gayton, J L; Ledford, J K

    1993-08-01

    A patient with cataracts and congenital exotropia underwent combined cataract and strabismus surgery OU. A lateral rectus recession plus an extracapsular cataract extraction with intraocular lens implantation was done OD first; three months later, this procedure was repeated OS. The patient's postoperative course was benign in both cases, and her strabismus resolved after the second operation. A combined surgical approach to cataracts and strabismus (where only a single muscle is involved) was safe and useful in restoring this patient's vision, binocularity, and appearance.

  12. [Diagnosis of hereditary angioedema].

    Science.gov (United States)

    Bouillet, Laurence

    2015-01-01

    Hereditary angioedema is a rare disease, potentially life-threatening. It requires a specific treatment. Angioedema without wheals associated with abdominal attacks are very specific of this disease. Antigenemy and functional C1Inhibitor assays are necessary for the diagnosis. The hereditary angioedema with normal C1Inh (type III) is a diagnostic challenge. Bradykinin, secondary to kallikrein-kinin system activation is the key mediator of hereditary angioedema. Female are more symptomatic. Attacks can be induced by menstruations, pregnancies or contraceptive pills.

  13. Genetics Home Reference: hereditary spherocytosis

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions hereditary spherocytosis hereditary spherocytosis Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Hereditary spherocytosis is a condition that affects red blood cells. ...

  14. A novel locus on canine chromosome 13 is associated with cataract in the Australian Shepherd breed of domestic dog.

    Science.gov (United States)

    Ricketts, Sally L; Pettitt, Louise; McLaughlin, Bryan; Jenkins, Christopher A; Mellersh, Cathryn S

    2015-06-01

    Hereditary cataract is a common ocular disorder in the purebred dog population and is a leading cause of visual impairment and blindness in dogs. Despite this, little is known to date about the genetics underlying this condition. We have used a genome-wide association study and targeted resequencing approach to identify a novel locus for cataracts in the Australian Shepherd breed of dog, using dogs that are clear of an HSF4 mutation, previously identified as the major susceptibility locus in this breed. Cataract cases were defined as dogs with bilateral posterior cataracts, or bilateral nuclear cataracts. Controls were at least 8 years of age with no evidence of cataracts or other ocular abnormality. Using 15 bilateral posterior polar cataract cases and 68 controls, we identified a genome-wide statistical association for cataracts in the Australian Shepherd on canine chromosome 13 at 46.4 Mb (P value: 1.5 × 10(-7)). We sequenced the 14.16 Mb associated region in ten Australian Shepherds to search for possible causal variants underlying the association signal and conducted additional fine-mapping of the region by genotyping 28 intronic variants that segregated correctly in our ten sequenced dogs. From this analysis, the strongest associated variants were located in intron 5 of the SCFD2 gene. Further study will require analysis of additional cases and controls and ocular tissue from dogs affected with bilateral cataracts that are free of the HSF4 mutation.

  15. [Genetics of hereditary iron overload].

    Science.gov (United States)

    Le Gall, Jean-Yves; Jouanolle, Anne-Marie; Fergelot, Patricia; Mosser, Jean; David, Véronique

    2004-01-01

    The classification of hereditary abnormalities of iron metabolism was recently expanded and diversified. Genetic hemochromatosis now corresponds to six diseases, namely classical hemochromatosis HFE 1; juvenile hemochromatosis HFE 2 due to mutations in an unidentified gene on chromosome 1; hemochromatosis HFE 3 due to mutations in the transferrin receptor 2 (TfR2); hemochromatosis HFE 4 caused by a mutation in the H subunit of ferritin; and hemochromatosis HFE 6 whose gene is hepcidine (HAMP). Systemic iron overload is also associated with aceruloplasminemia, atransferrinemia and the "Gracile" syndrome caused by mutations in BCS1L. The genes responsible for neonatal and African forms of iron overload are unknown. Other genetic diseases are due to localized iron overload: Friedreich's ataxia results from the expansion of triple nucleotide repeats within the frataxin (FRDA) gene; two forms of X-linked sideroblastic anemia are due to mutations within the delta aminolevulinate synthetase (ALAS 2) or ABC-7 genes; Hallervorden-Spatz syndrome is caused by a pantothenate kinase 2 gene (PANK-2) defect; neuroferritinopathies; and hyperferritinemia--cataract syndrome due to a mutation within the L-ferritin gene. In addition to this wide range of genetic abnormalities, two other features characterize these iron disorders: 1) most are transmitted by an autosomal recessive mechanism, but some, including hemochromatosis type 4, have dominant transmission; and 2) most correspond to cytosolic iron accumulation while some, like Friedreich's ataxia, are disorders of mitochondrial metabolism.

  16. 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.

  17. Hereditary urea cycle abnormality

    Science.gov (United States)

    ... vitro so the specific genetic cause is known. Teamwork between parents, the affected child, and doctors can help prevent severe illness. Alternative Names Abnormality of the urea cycle - hereditary; Urea cycle - hereditary abnormality Images Male urinary system Urea cycle References Lichter-Konecki ...

  18. Cataract surgery and anticoagulants

    NARCIS (Netherlands)

    Koopmans, SA; VanRij, G

    1996-01-01

    A questionnaire was sent to 240 members of the Netherlands Intraocular implant Club (NIOIC) to register their policy followed in 1993 with regard to anticoagulant therapy (ACT) and the use of aspirin in patients having cataract surgery. Ninety-one (32%) forms were suitable for analysis. Most eye sur

  19. Endophthalmitis following cataract extraction.

    Science.gov (United States)

    McClellan, K; Coster, D J; Badenoch, P R; Sanders, R; Chandraratnam, E; Kupa, A

    1987-02-01

    We describe a case of bacterial endophthalmitis complicating routine cataract extraction and intraocular lens implantation in a 91-year-old woman. The ocular and systemic factors that may have predisposed to intraocular infection in this case, and the possibility of predicting these pre-operatively, are discussed.

  20. 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.

  1. 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

  2. Three cases of extracapsular cataract extraction for radiation cataract

    Energy Technology Data Exchange (ETDEWEB)

    Hirokane, Kenji; Kosaka, Toshiya; Nii, Hiroki; Kiuchi, Yoshiaki; Nakano, Kensuke; Choshi, Kanji [Hiroshima Univ. (Japan). School of Medicine

    1996-02-01

    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).

  3. [Developments in hereditary neuropathies].

    Science.gov (United States)

    Dubourg, O

    2012-12-01

    Hereditary sensorimotor neuropathies, or Charcot-Marie-Tooth disease (CMT) comprise a group of diseases with heterogeneous clinical, electrophysiological and genetic expression. They are classified by the mode of inheritance (autosomal dominant, X-linked dominant, autosomal recessive) and their electrophysiological characteristics taking into account the speed of motor conduction of the median nerve (demyelinating, intermediary and axonal forms). Certain purely motor forms are called spinal CMT or hereditary distal motor neuropathy, or distal spinal amyotrophy. CMT involving an important sensorial component, trophic disorders, or signs of dysautonomia are included in the classification of hereditary sensory and autonomic neuropathies.

  4. [Hereditary optic neuropathies].

    Science.gov (United States)

    Milea, D; Verny, C

    2012-10-01

    Hereditary optic neuropathies are a group of heterogeneous conditions affecting both optic nerves, with an autosomal dominant, autosomal recessive, X-related or mitochondrial transmission. The two most common non-syndromic hereditary optic neuropathies (Leber's hereditary optic neuropathy and autosomal dominant optic atrophy) are very different in their clinical presentation and their genetic transmission, leading however to a common, non-specific optic nerve atrophy. Beyond the optic atrophy-related visual loss, which is the clinical hallmark of this group of diseases, other associated neurological signs are increasingly recognized.

  5. Virtual Mentor Cataract Surgery Trainer

    Science.gov (United States)

    2010-09-01

    TITLE: Virtual Mentor Cataract Surgery Trainer PRINCIPAL INVESTIGATOR: Principal Investigator: John I. Loewenstein MD Co-Investigator: Bonnie A...AND SUBTITLE Virtual Mentor Cataract Surgery Trainer 5a. CONTRACT NUMBER 5b. GRANT NUMBER W81XWH-08-1-0531 5c. PROGRAM ELEMENT NUMBER...AVAILABILITY STATEMENT Approved for public release; distribution unlimited 13. SUPPLEMENTARY NOTES 14. ABSTRACT The Virtual Mentor Cataract Surgery

  6. Cataracts and macular degeneration.

    Science.gov (United States)

    Shoch, D

    1979-09-01

    The intraocular lens restores general vision and some degree of independence and mobility to patients with dense cataracts and macular degeneration. The patient, however, must be repeatedly warned that fine central vision, particularly reading, will not be possible after the surgery. An aphakic spectacle leaves such patients a narrow band of vision when superimposed over the macular lesion, and contact lenses are too small for the patient to manage insertion without help.

  7. 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.

  8. [Congenital cataract: general review].

    Science.gov (United States)

    Roche, O; Beby, F; Orssaud, C; Dupont Monod, S; Dufier, J L

    2006-04-01

    Cataract is a loss of lens transparency because of a protein alteration. Etiopathogenesis is poorly understood but new mutations of different developmental genes involved are found in 25% of cases. Frequency of onset, particularly when different ocular development anomalies occur, is related to the lens induction phenomena on the eye's anterior segment structure during embryologic development. Genetic transmission is often found on the dominant autosomal mode. Diagnosis is based on a complete and detailed examination of the eye, often with general anaesthesia. This condition predisposes children to later, sometimes serious amblyopia. Different clinical aspects can be observed: from cataract with ocular and/or systemic anomalies to polymalformative syndrome, skeletal, dermatological, neurological, metabolic, and genetic or chromosomal diseases. A general systematic pediatric examination is necessary. Congenital cataract requires first and foremost early diagnosis and a search for all etiologies. Surgical treatment is adapted case by case but it has progressed with the quality of today's intraocular lenses even if systematic implantation continues to be debated. Life-long monitoring is absolutely necessary.

  9. Survey of Cataract Surgical Techniques in Nigeria

    African Journals Online (AJOL)

    PROF SABE NWOSU

    Objective: To determine the techniques of cataract surgery as currently being ... include phacoemulsification, manual small incision sutureless. 3 cataract surgery (SICS) ... technology automated small incision phacoemulsification technique.5.

  10. Is Pancreatic Cancer Hereditary?

    Science.gov (United States)

    ... gene testing for hereditary pancreatitis is now available. Ataxia telangiectasia The team at Johns Hopkins discovered that inherited ... are known to cause the clinical syndrome of "ataxia telangiectasia," and 2-3% of people with familial pancreatic ...

  11. Hereditary Gingival Fibromatosis

    Science.gov (United States)

    Nevin, N. C.

    1971-01-01

    Case studies of two siblings suffering from a gum disorder in which enlargement of the gingival mucosa is caused by a fibrosis. The disorder in the two children was felt to be an hereditary recessive trait. (CD)

  12. Learning about Hereditary Hemochromatosis

    Science.gov (United States)

    ... and Its Implications Meeting A 1997 ELSI Report Learning About Hereditary Hemochromatosis What do we know about ... and treatment information. Hosted by the Dolan DNA Learning Center at Cold Spring Harbor Laboratory. Iron Overload ...

  13. [Clinical and molecular genetic analysis of hereditary optic neuropathies].

    Science.gov (United States)

    Avetisov, S É; Sheremet, N L; Vorob'eva, O K; Eliseeva, É G; Chukhrova, A L; Loginova, A N; Khanakova, N A; Poliakov, A V

    2013-01-01

    DNA samples of 50 patients with optic neuropathy (ON) associated with congenital cataract were studied to find 3 major mt-DNA mutations (m.11778G>A, m.3460G>A, m.14484T>C), mutations in "hot" regions of OPA 1 gene (exons 8, 14, 15, 16, 18, 27, 28) and in the entire coding sequence of OPA3 gene for molecular genetic confirmation of diagnosis of hereditary Leber and autosomal dominant ON. Primary mutations of mtDNA responsible for hereditary Leber ON were found in 16 patients (32%). Pathogenic mutations of OPAl gene (c.869G>A and c. 2850delT) were identified in 2 patients (4%), these mutations were not found in the literature. OPA3 gene mutations were not revealed.

  14. Genetics Home Reference: hereditary angioedema

    Science.gov (United States)

    ... InfoSearch: Hereditary angioedema MalaCards: c1 inhibitor deficiency Merck Manual Professional Version Orphanet: Hereditary angioedema Patient Support and Advocacy Resources (2 links) International Patient Organization for C1 Inhibitor Deficiencies National Organization for Rare ...

  15. 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.

  16. Combined cataract and glaucoma procedures using temporal cataract surgery.

    Science.gov (United States)

    Gayton, J L; Van der Karr, M A; Sanders, V

    1996-12-01

    To evaluate whether separating the procedures in a combined procedure by performing a temporal cataract incision and superior trabeculectomy induces the lower astigmatism of a temporal cataract incision without sacrificing intraocular pressure (IOP) control. EyeSight Associates, Warner Robins, Georgia. This study evaluated 50 consecutive eyes receiving a superior cataract incision with a superonasal trabeculectomy and 65 eyes receiving a temporal cataract incision with a superonasal trabeculectomy. After 3 months, a substantially greater proportion of temporal incision cases had controlled IOP without medication. A substantially higher proportion in the superior incision group had uncontrolled IOP at each time period. Mean surgically induced cylinder was higher in the superior incision group at every time period. The superior group had early with-the-rule mean induced cylinder that decayed to against-the-rule, with a mean induced cylinder with keratometry at the final available visit (more than 3 months) of -1.01 diopter (D). The temporal group started with a negligible induced cylinder (-0.13 D) that drifted slightly with the rule to a final mean induced cylinder of +0.49 D. At the last visit, 31% in the superior incision group and 57% in the temporal incision group had an uncorrected visual acuity of 20/40 or better, and 72% and 94%, respectively, had a best corrected acuity of 20/40 or better. Separating the cataract and glaucoma procedures frees the surgeon to use newer astigmatically neutral techniques for the cataract incision.

  17. 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

  18. Managing hereditary ovarian cancer

    NARCIS (Netherlands)

    Mourits, M. J.; de Bock, G. H.

    2009-01-01

    In this review we present an overview of recent developments in the management of hereditary ovarian cancer. Until recently, intensive screening of the ovaries was recommended to mutation carriers and their first-degree female relatives. However, since screening is not effective in detecting early-s

  19. Understanding Hereditary Angioedema

    Science.gov (United States)

    ... INH) in their blood or this C1-INH protein does not function appropriately. These forms of hereditary angioedema are different ... In addition to a physical examination and medical history, HAE is diagnosed by measuring the level and function of C1-INH in the blood. Living with ...

  20. 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...

  1. 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…

  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. Congenital Cataract Screening

    Science.gov (United States)

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    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. PMID:27621790

  4. Sequelae of neglected senile cataract

    Directory of Open Access Journals (Sweden)

    Azhany Y

    2013-05-01

    Full Text Available Cataract is the most common cause of blindness in the world. An attack of phacolytic and phacomorphic glaucoma as a result of neglected cataract constitutes a medical emergency that must be addressed immediately. Ocular emergencies such as these is challenging for the surgeon with guarded or poor prognosis. We describe the presentation, management and prognosis of three cases of phacomorphic and phacolytic glaucoma. All three patients underwent aggressive management of intraocular pressure. Despite successful cataract operation with implantation of intraocular lens, there was only mild improvement of the vision. Optic nerve and pupil functions were permanently affected following the insult. Phacomorphic and phacolytic glaucoma present a very challenging problem to the surgeon with poor visual outcome. Public health education and awareness are important and health workers should encourage patients with cataract to seek early treatment for better prognosis.

  5. Manual small incision cataract surgery in eyes with white cataracts

    Directory of Open Access Journals (Sweden)

    Venkatesh Rengaraj

    2005-01-01

    Full Text Available PURPOSE: To assess the safety and efficacy of Manual Small Incision Cataract Surgery (MSICS in cases of white cataract with the use of trypan blue as an adjunct for performing continuous curvilinear capsulorthexis (CCC. MATERIALS AND METHODS: Prospective observational study on 100 consecutive eyes of 100 patients with white cataract who had undergone MSICS with trypan blue assisted CCC. The nucleus was prolapsed into anterior chamber by using a sinskey hook and extracted out of the eye using irrigating vectis. Intraoperative and postoperative findings (according to OCTET classification as well as postoperative visual outcomes were used as main measures to report the safety and efficacy of the surgery. RESULTS: Of the 100 eyes, 16 had intumescent, 67 had mature and 17 had hypermature cataract. Intraoperatively CCC was incomplete in 4 eyes (4% and had to be converted to canopener capsulotomy. None of the eyes had posterior capsular rupture or zonular dialysis and no eyes were converted to conventional Extra Capsular Cataract Extraction (ECCE. Postoperatively, 6 eyes (6% developed corneal oedema with >10 Descemets folds and 7 eyes (7% had corneal oedema with < 10 Descemets folds. Mild iritis was seen in 6 eyes (6% and moderate iritis with fibrin membrane was seen in 3 eyes (3%. Iridodialysis was observed in 1 eye (1%. Of the 99 patients (99% categorised under good visual outcomes category, 94 patients (94% had a best-corrected visual acuity of 6/9 or better on the 40th post-operative day. CONCLUSION: In developing countries like India where phacoemulsification may not be affordable to a majority of those requiring cataract surgery, MSICS proves to be a safe and efficacious alternative for white cataracts especially with the adjunctive use of trypan blue dye.

  6. Human hereditary hepatic porphyrias.

    Science.gov (United States)

    Nordmann, Yves; Puy, Hervé

    2002-11-01

    The human hereditary hepatic porphyrias are diseases due to marked deficiencies of enzymes in the heme biosynthetic pathway. Porphyrias can be classified as either hepatic or erythroid, depending on the major production site of porphyrins or their precursors. The pathogenesis of inherited hepatic porphyrias has now been defined at the molecular level. Some gene carriers are vulnerable to a range of exogenous and endogenous factors, which may trigger neuropsychiatric and/or cutaneous symptoms. Early diagnosis is of prime importance since it makes way for counselling. In this article we present an overview of recent advances on hepatic porphyrias: 5-aminolevulinic acid dehydratase deficiency porphyria, acute intermittent porphyria (AIP), porphyria cutanea tarda (PCT), hereditary coproporphyria (HC), and variegate porphyria (VP).

  7. [Hereditary peripheral neuropathies].

    Science.gov (United States)

    Vallat, Jean-Michel; Tazir, Mériem; Calvo, Judith; Funalot, Benoît

    2009-09-01

    Currently more than 30 genes are known to be responsible for genetically determined neuropathies. Charcot-Marie-Tooth (CMT) disease is the most frequent of these hereditary neuropathies, with a prevalence of 4.7 to 36 per 100 000. In its demyelinating forms (CMT1), approximately 70% of cases are associated with a duplication of the PMP22gene. In its axonal forms (CMT2), 10-20% of the cases may be associated with a mutation of the MFN2gene. For North African patients with recessive transmission, a mutation of the LMNA gene must be sought. It is essential to stress the great variability of the phenotype--clinical, electrophysiological, and histologic--between and within families. A detailed analysis of these criteria, together with consideration of ethnic origin, may guide the search for the causal mutation. Whether the case involves certainly hereditary transmission or a sporadic form, it is desirable to be able to examine the maximum number of the patient's kin, both clinically and electrophysiologically. The forms with recessive transmission usually have a very early onset and are more serious than the dominant forms. The early- and very early-onset forms of CMT are increasingly better distinguished: congenital hypomyelination neuropathy (mutations of PMP22, MPZ or EGR2), or more axonal forms, including SMARD1 (Spinal muscle atrophy with respiratory distress; mutations of IGHMBP2) and EOHMSN (Early-onset hereditary motor and sensory neuropathy; mutations of MFN2). The prevention of cutaneous (ulcerations), bone, and amputation complications is very important in patients with hereditary sensory and autonomic neuropathies, because of the severity of the sensory disorders.

  8. 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 t......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...

  9. Hereditary neuropathies: An update.

    Science.gov (United States)

    Stojkovic, T

    2016-12-01

    Hereditary neuropathies are the most common inherited neuromuscular diseases. Charcot-Marie-Tooth (CMT) disease represents the most common form with an average prevalence ranging from 1/2500 to 1/1200, depending on the studies. To date and with the advances of the latest generation sequencing, more than 80 genes have been identified. Although the common clinical phenotype comprises a progressive distal muscle weakness and sensory loss, foot deformities and decreased or absent tendon reflexes, clinical and electrophysiological phenotypes exhibit great variability. Moreover, atypical phenotypes are arising, overlapping with spastic paraplegia, hereditary sensory neuropathies or amyotrophic lateral sclerosis. The causative genes are involved in various biological processes such as myelin development and maintenance, biosynthesis and degradation of proteins, neuronal structural maintenance, axonal transport, endocytosis, membrane dynamics, ion-channel function and the mitochondrial network. An accurate genetic diagnosis is important for appropriate genetic counselling and treatment options. Therapeutic advances, particularly small interfering RNA therapy, are encouraging in hereditary transthyretin amyloid neuropathy. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  10. Hereditary erythrocytosis, thrombocytosis and neutrophilia.

    Science.gov (United States)

    Hong, Wan-Jen; Gotlib, Jason

    2014-06-01

    Hereditary erythrocytosis, thrombocytosis, and neutrophilia are rare inherited syndromes which exhibit Mendelian inheritance. Some patients with primary hereditary erythrocytosis exhibit a mutation in the erythropoietin receptor (EPOR) which is associated with low serum erythropoietin (EPO) levels. Secondary congenital erythrocytosis may be characterized by normal or high serum EPO levels, and is related to high oxygen affinity haemoglobin variants, mutation of the enzyme biphosphoglycerate mutase (BPGM), or defects in components of the oxygen-sensing pathway. Hereditary thrombocytosis was first linked to mutations in genes encoding thrombopoietin (THPO) or the thrombopoietin receptor, MPL. More recently, germline mutations in JAK2, distinct from JAK2 V617F, and mutation of the gelsolin gene, were uncovered in several pedigrees of hereditary thrombocytosis. Hereditary neutrophilia has been described in one family with an activating germline mutation in CSF3R. The mutational basis for most hereditary myeloproliferative disorders has yet to be identified. Copyright © 2014. Published by Elsevier Ltd.

  11. Topical sulindac therapy in diabetic senile cataracts : cataract IV

    Directory of Open Access Journals (Sweden)

    Sharma Y

    1989-01-01

    Full Text Available Sulindac, a non-steroidal anti-inflammatory drug has been found to be a potent inhibitor of enzyme aldose reductase. We used sulindac topically in diabetic senile cataract patients to note if it effects the progression of cataracts. More of sulindac treated eyes maintained initial vision and fewer eyes had visual loss of up to two lines or more as compared to control eyes. The extent and density of different opacities showed less progression in sulindac treated eyes but it was not statistically significant except that the ophthalmoscopically observed density of opacity showed statistically very significant lesser mean increase in sulindac treated eyes. We suggest that sulindac is a potential drug which should be further evaluated in large double blind photodocumented studies in diabetic senile cataracts.

  12. Genetics Home Reference: hereditary diffuse gastric cancer

    Science.gov (United States)

    ... Health Conditions hereditary diffuse gastric cancer hereditary diffuse gastric cancer Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly increases ...

  13. Identification of a Novel GJA8 (Cx50) Point Mutation Causes Human Dominant Congenital Cataracts

    Science.gov (United States)

    Ge, Xiang-Lian; Zhang, Yilan; Wu, Yaming; Lv, Jineng; Zhang, Wei; Jin, Zi-Bing; Qu, Jia; Gu, Feng

    2014-02-01

    Hereditary cataracts are clinically and genetically heterogeneous lens diseases that cause a significant proportion of visual impairment and blindness in children. Human cataracts have been linked with mutations in two genes, GJA3 and GJA8, respectively. To identify the causative mutation in a family with hereditary cataracts, family members were screened for mutations by PCR for both genes. Sequencing the coding regions of GJA8, coding for connexin 50, revealed a C > A transversion at nucleotide 264, which caused p.P88T mutation. To dissect the molecular consequences of this mutation, plasmids carrying wild-type and mutant mouse ORFs of Gja8 were generated and ectopically expressed in HEK293 cells and human lens epithelial cells, respectively. The recombinant proteins were assessed by confocal microscopy and Western blotting. The results demonstrate that the molecular consequences of the p.P88T mutation in GJA8 include changes in connexin 50 protein localization patterns, accumulation of mutant protein, and increased cell growth.

  14. 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...

  15. 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...... to cataract surgery. METHODS: We included 26 ophthalmic trainees (no cataract surgery experience), 11 experienced cataract surgeons (>4000 cataract procedures) and five vitreoretinal surgeons. All subjects completed 13 different modules twice. Simulator metrics were used for the assessments. RESULTS: Total...

  16. 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.

  17. HFE-associated hereditary hemochromatosis

    NARCIS (Netherlands)

    Eijkelkamp, EJ; Yapp, TR; Powell, LW

    2000-01-01

    Hereditary hemochromatosis is a common inherited disorder of the iron metabolism Screening studies indicate that it has a prevalence of one in 200 to 400, depending on the population studied, and a carrier rate of about one in seven to one in 10. Feder et al identified the hereditary hemochromatosis

  18. Hereditary angioedema: Not an allergy

    Directory of Open Access Journals (Sweden)

    Sanjay Bhivgade

    2012-01-01

    Full Text Available Hereditary angioedema is a genetic disorder due to a deficiency or malfunction of C1 esterase inhibitor. We herein describe a case of 25-year-old male who presented with swelling over face since one day. There was history of similar episodes since two years with gradual subsidence of swelling without any treatment. Investigations revealed grossly reduced complement C4 and C1 esterase inhibitor level. Patient was diagnosed to have hereditary angioedema type 1 and started on stanozolol 2 mg three times a day with no recurrence in one year of follow-up. Hereditary angioedema resembles angioedema of an allergic reaction. However, the cause is different.

  19. 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...

  20. [Leber's hereditary optic neuropathy].

    Science.gov (United States)

    Leo-Kottler, B; Wissinger, B

    2011-12-01

    Leber's hereditary optic neuropathy (LHON) is a rare disease primarily affecting the retinal ganglion cells. In most cases patients with LHON develop permanent visual loss with a large central scotoma in the visual field of both eyes. The optic disc becomes partially or completely pale. At the onset of the disease many patients are considered to suffer from an optic neuritis and are treated under the diagnostic and therapeutic regimen of optic neuritis. LHON is mostly only considered when high dose cortisone therapy fails to be effective or the second eye is affected. Thereafter, molecular genetic analysis will prove LHON in these cases. Detailed anamnesis including pedigree analysis in combination with observance of the peripapillary microangiopathic alterations at the fundus will help to speed up the diagnosis of LHON, but even after exact clinical and molecular genetic diagnosis of LHON some aspects of the disease still remain a mystery today.

  1. 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.

  2. Quality of care from the perspective of the cataract patient: QUOTE Cataract Questionnaire.

    NARCIS (Netherlands)

    Nijkamp, M.D.; Sixma, H.J.; Afman, H.; Hiddema, F.; Koopmans, S.A.; Borne, B. van den; Hendrikse, F.; Nuijts, R.M.M.A.

    2002-01-01

    PURPOSE: To examine the potential of a questionnaire (QUOTE Cataract) to measure quality of care from the perspective of cataract patients in quality-assurance or improvement programs. SETTING: Department of Ophthalmology, University Hospital Maastricht, Maastricht, University Hospital Groningen, Gr

  3. Quality of care from the perspective of the cataract patient - QUOTE Cataract Questionnaire

    NARCIS (Netherlands)

    Nijkamp, MD; Sixma, HJ; Afman, H; Hiddema, F; Koopmans, SA; van den Borne, B; Hendrikse, F; Nuijts, RMMA

    2002-01-01

    Purpose: To examine the potential of a questionnaire (QUOTE Cataract) to measure quality of care from the perspective of cataract patients in quality-assurance or improvement programs. Setting. Department of Ophthalmology, University Hospital Maastricht, Maastricht, University Hospital Groningen, Gr

  4. Quality of care from the perspective of the cataract patient - QUOTE Cataract Questionnaire

    NARCIS (Netherlands)

    Nijkamp, MD; Sixma, HJ; Afman, H; Hiddema, F; Koopmans, SA; van den Borne, B; Hendrikse, F; Nuijts, RMMA

    2002-01-01

    Purpose: To examine the potential of a questionnaire (QUOTE Cataract) to measure quality of care from the perspective of cataract patients in quality-assurance or improvement programs. Setting. Department of Ophthalmology, University Hospital Maastricht, Maastricht, University Hospital Groningen,

  5. Quality of care from the perspective of the cataract patient: QUOTE Cataract Questionnaire.

    NARCIS (Netherlands)

    Nijkamp, M.D.; Sixma, H.J.; Afman, H.; Hiddema, F.; Koopmans, S.A.; Borne, B. van den; Hendrikse, F.; Nuijts, R.M.M.A.

    2002-01-01

    PURPOSE: To examine the potential of a questionnaire (QUOTE Cataract) to measure quality of care from the perspective of cataract patients in quality-assurance or improvement programs. SETTING: Department of Ophthalmology, University Hospital Maastricht, Maastricht, University Hospital Groningen,

  6. Hereditary Elliptocytosis with Pyropoikilocytosis

    Directory of Open Access Journals (Sweden)

    Turan Bayhan

    2016-03-01

    Full Text Available A 17-day-old boy was admitted because of jaundice and anemia. He was born weighing 2900 g subsequent to a term gestation as the fourth child of first-degree cousin parents. The previous history revealed the administration of phototherapy for 4 days starting from the first day of life. Complete blood count revealed hemoglobin (Hb of 6.9 g/dL, hematocrit of 19.8%, mean corpuscular volume (MCV of 87.5 fL, red cell distribution width (RDW of 37%, white blood cell count of 11.4x109/L, and platelet count of 263x109/L. Corrected reticulocyte count was 5.3%. Peripheral blood smear revealed polychromasia and pyropoikilocytosis. Direct antibody test was negative. Erythrocyte glucose-6-phosphate dehydrogenase, pyruvate kinase, and pyrimidine 5’ nucleotidase levels were normal. An erythrocyte transfusion was administered with a diagnosis of non-immune hemolytic anemia and the patient was discharged at the 26th day of life with initiation of folic acid. During his outpatient followup, he required erythrocyte transfusions 2 more times and the last transfusion was performed when he was 3 months old. At a visit 3 months after the last transfusion, his blood count was as follows: Hb of 9.5 g/dL, hematocrit of 28.2%, MCV of 68.2 fL, and RDW of 30.5%. Erythrocyte osmotic fragility was found to be normal and Hb electrophoresis revealed Hb F of 6.6% and Hb A2 of 1.7%. Upon physical examination he had mild jaundice and no splenomegaly. The parents’ blood counts were within normal ranges. Peripheral blood smear revealed prominent elliptocytes and occasional microcytic and fragmented erythrocytes with poikilocytosis (Figure 1. The clinical findings and laboratory results were diagnostic for the hereditary pyropoikilocytosis (HPP type of hereditary elliptocytosis (HE, but in vitro fragmentation testing was not performed

  7. Cataract and ionizing radiation; Cataracte et rayonnements ionisants

    Energy Technology Data Exchange (ETDEWEB)

    Wassilieff, S. [Ecole des Applications Militaires de l' Energie Atomique, 50 - Cherbourg Octeville (France)

    2009-10-15

    The radiation-induced cataract has been up to now considered as a quite rare pathology, needing high-dose radiations (beyond a dose threshold roughly estimated at 2 Grays to the lens) consisting mainly in head tumour radiotherapy complications. Several new studies on different exposed populations such as astronauts, japanese atomic bomb survivors, people undergoing X-ray examinations, Chernobyl accident 'liquidators' as well as data from animal experiments, suggest that dose threshold for detectable opacities as well as for clinical posterior sub-capsular cataract occurring, might be far lower than those previously assumed. Even the existence of a dose threshold is no longer an absolute certitude insofar as radiation-induced cataract pathogenesis might consist not really in a deterministic effect (direct tissue harmful effect, killing or seriously injuring a critical population of cells) as believed until now, but rather in a stochastic effect (genomic damage in target-cells, altered cell division, abnormal lens fiber cell differentiation). More practically, these new data may lead us to reconsider radioprotection of specifically exposed populations: mainly patients and workers. Regarding workers, labour legislation (lens equivalent dose limit of 150 mSv during 12 consecutive months) might be, in the medium term, reassessed downwards. (author)

  8. Pre-cataract surgery test using speckle pattern

    Science.gov (United States)

    Jutamulia, Suganda; Wihardjo, Erning; Widjaja, Joewono

    2016-11-01

    A laser diode device for pre cataract surgery test is proposed. The operation is based on the speckle generated on the retina by the cataract lens, when the cataract lens is illuminated with a coherent laser light.

  9. Vitrectomy as a Risk Factor for Complicated Cataract Surgery.

    Science.gov (United States)

    Fenberg, Moss J; Hainsworth, Kenneth J; Rieger, Frank G; Hainsworth, Dean P

    2016-01-01

    A retrospective review of 98 cases of complicated cataract surgery and/or delayed intraocular lens (IOL) dislocation examined the relationship between vitrectomy and cataract surgery complications. Nine (9.2%) of the 98 patients had a history of vitrectomy, before or after cataract surgery, and each had complicated cataract surgery. Six patients who underwent vitrectomy before cataract surgery experienced intraoperative complications. Three patients in whom vitrectomy was performed after uneventful cataract surgery subsequently had delayed IOL dislocation.

  10. [Implantation in severe myopia cataract].

    Science.gov (United States)

    Metge, P; Ginestet, X; Morin, B; Platon, O

    1989-01-01

    Based upon biometric and statistical analysis of 163 eyes (26 mm or longer), it appears that high myopia cataract occur all the earlier as the eye is long; on average, these were operated on ten years earlier than cataracts in the general population. Extra-capsular extraction and intercapsular implantation were generally used. Pre and post-operative complications are remarkably rare for such abnormal eyes. After a mean period of 22 months, detachment of the retina was observed in 1.84% of patients and secondary capsulotomy performed in 8%. Because they prevent secondary capsular opacification and anterior vitreous propagation, it appears that such barrier-type implants should be systematically placed. Current large-diameter implants allow for vitreoretinal observation. Based upon this patient population, a formula for implant power calculation specific to high myopia has been elaborated. The desired degree of refraction varies with age and patient activity.

  11. Hepcidin levels in hereditary hyperferritinemia:Insights into the iron-sensing mechanism in hepatocytes

    Institute of Scientific and Technical Information of China (English)

    Jayantha; Arnold; Arvind; Sangwaiya; Vijay; Manglam; Mark; Thursz; Caroline; Beaumont; Caroline; Kannengiesser; Mark; Busbridge

    2010-01-01

    AIM:To study the role of hepcidin in hereditary hyperferritinemia cataract syndrome(HHCS). METHODS:Six patients from two families with HHCS, confirmed by genetic analysis showing A to G mutation at position+40 in the L-ferritin gene,were recruited to undergo serum hepcidin and prohepcidin measurements using radioimmunoassay and enzyme linked immunoassay,respectively,and measurements were compared with levels in serum from 25 healthy volunteers(14 females),mean age 36±11.9 years.RESULTS:The serum hepcidin an...

  12. Association between metabolic syndrome and agerelated cataract

    Institute of Scientific and Technical Information of China (English)

    Sangshin; Park; Eun-Hee; Lee

    2015-01-01

    ·AIM: To determine the effect of metabolic syndrome on age-related cataract formation.·METHODS: We analyzed data for 2852 subjects [41.8%men and 58.2% women; mean(±SD) age, 52.9 ±13.9y],taken from the Korea National Health and Nutrition Examination Survey 2008. Metabolic syndrome was diagnosed by criteria proposed by the Joint Interim Societies. Cataract was diagnosed by using the Lens Opacities Classification System III. The association between metabolic syndrome and cataract was determined using age-adjusted and multivariable logistic regression analyses.· RESULTS: In multivariable analyses, men with metabolic syndrome had a 64% increased risk of nuclear cataract [odds ratio(OR), 1.64; 95% confidence interval(CI), 1.12-2.39]. Women with metabolic syndrome had a56% increased risk of cortical cataract(OR, 1.56; 95% CI,1.06-2.30). Men and women with metabolic syndrome had a 46%(OR, 1.46; 95% CI, 1.01-2.12) and 49%(OR,1.49; 95% CI, 1.07-2.08) increased risk of any cataract,respectively. The prevalence of nuclear and any cataract significantly increased with an increasing number of disturbed metabolic components in men, and prevalence of all types of cataracts increased in women. Men using hypoglycemic medication had an increased risk of nuclear(OR, 2.62; 95% CI, 1.41-4.86) and any(OR, 2.27;95% CI, 1.14-4.51) cataract, and women using antidyslipidemia medication had an increased risk of cortical(OR, 2.18; 95% CI, 1.12-4.24) and any(OR, 2.21;95% CI, 1.14-4.26) cataract.·CONCLUSION: Metabolic syndrome and its components,such as abdominal obesity, high blood pressure, andimpaired fasting glucose, are associated with age-related cataract formation in the Korean population.

  13. [Hereditary phaeochromocytoma in twins].

    Science.gov (United States)

    Tóth, Géza; Patócs, Attila; Tóth, Miklós

    2016-08-01

    Phaeochromocytoma is a tumor of the catecholamine-producing cells of the adrenal gland. Extraadrenal phaeochromocytomas are frequently called paragangliomas. The majority of phaeochromocytomas are sporadic, however, about 25-30% are caused by genetic mutation. These tumor are frequently referred as hereditary phaeochromocytomas/paragangliomas. Their incidence increases continuously which can be attributed to availability of genetic examination and to the discovery of novel genes. The 47-year-old female patient underwent abdominal computed tomography which revealed bilateral adrenal gland enlargement. Abdominal magnetic resonance imaging, the 131-I- metaiodobenzylguanidine scintigraphy, urinary catecholamines and serum chomogranin A measurements confirmed the diagnosis of bilateral phaeochromocytomas. The genetically identical twin sister of the patient was also diagnosed with hormonally active bilateral phaechromocytoma, suggesting the genetic origin of phaeochromocytoma. Mutation screening confirmed a germline mutation of the transmembrane protein 127 tumorsupressor gene in both patients. Both patients underwent cortical-sparing adrenalectomy. The adrenal gland with the larger tumor was totally resected, while in the opposite side only the tumor was resected and a small part of the cortex was saved. After the operation urinary catecholamines and serum chromogranin A returned to normal in both patients. Adrenocortical deficiency was absent in the first patient, but her sister developed adrenal insufficiency requiring glucocorticoid replacement. To the best of the authors' knowledge phaeochromocytoma affecting twins has never been described earlier. Genetic examination performed in siblings confirmed the presence of the mutant gene through four generations. Orv. Hetil., 2016, 157(33), 1326-1330.

  14. [Advances in hereditary hemochromatosis].

    Science.gov (United States)

    Nardi, Graciela; Cadiz, Claudia; Lachman, J; Cornelio, Cecilia

    2003-01-01

    Hereditary hemocromatosis (HH) is a genetic disease with a recessive autosomic pattern, in which inadequate iron (Fe) absorption is made by the intestinal cell. As consequence of that process, takes place a progressive accumulation of metal in different organs, predominantly in the liver. This leads to an alteration of liver structure and function: cirrhosis and hepatocarcinoma (1). The gene implied in this pathology was identified (HFE) in 1996. This codes a similar molecule to the mayor histocompatibility complex type 1(MHC-T1 like) that can modulate the transport of PE binding the transferrin receptor. This progress allows a deep understanding of the molecular and cellular biology of the homeostasis of the Fe and its alterations in the NH. The diagnosis of disease by means of a genetic test let to carry out a familiar screening and to detect asymptomatic carriers. This makes possible to begin the appropriate treatment at early stages of the disease in order to avoid its consequences and offering a better quality of life to these patients.

  15. Adult hereditary fructose intolerance

    Institute of Scientific and Technical Information of China (English)

    Mohamed Ismail Yasawy; Ulrich Richard Folsch; Wolfgang Eckhard Schmidt; Michael Schwend

    2009-01-01

    Hereditary fructose intolerance (HFI) is an underrecognized,preventable life-threatening condition. It is an autosomal recessive disorder with subnormal activity of aldolase B in the liver, kidney and small bowel. Symptoms are present only after the ingestion of fructose, which leads to brisk hypoglycemia, and an individual with continued ingestion will exhibit vomiting,abdominal pain, failure to thrive, and renal and liver failure. A diagnosis of HFI was made in a 50-year-old woman on the basis of medical history, response to Ⅳ fructose intolerance test, demonstration of aldolase B activity reduction in duodenal biopsy, and molecular analysis of leukocyte DNA by PCR showed homozygosity for two doses of mutant gene. HFI may remain undiagnosed until adult life and may lead to disastrous complications following inadvertent fructose or sorbitol infusion. Several lethal episodes of HFI following sorbitol and fructose infusion have been reported. The diagnosis can only be suspected by taking a careful dietary history, and this can present serious complications.

  16. Adult hereditary fructose intolerance.

    Science.gov (United States)

    Yasawy, Mohamed Ismail; Folsch, Ulrich Richard; Schmidt, Wolfgang Eckhard; Schwend, Michael

    2009-05-21

    Hereditary fructose intolerance (HFI) is an under-recognized, preventable life-threatening condition. It is an autosomal recessive disorder with subnormal activity of aldolase B in the liver, kidney and small bowel. Symptoms are present only after the ingestion of fructose, which leads to brisk hypoglycemia, and an individual with continued ingestion will exhibit vomiting, abdominal pain, failure to thrive, and renal and liver failure. A diagnosis of HFI was made in a 50-year-old woman on the basis of medical history, response to IV fructose intolerance test, demonstration of aldolase B activity reduction in duodenal biopsy, and molecular analysis of leukocyte DNA by PCR showed homozygosity for two doses of mutant gene. HFI may remain undiagnosed until adult life and may lead to disastrous complications following inadvertent fructose or sorbitol infusion. Several lethal episodes of HFI following sorbitol and fructose infusion have been reported. The diagnosis can only be suspected by taking a careful dietary history, and this can present serious complications.

  17. Molecular genetics of congenital nuclear cataract.

    Science.gov (United States)

    Deng, Hao; Yuan, Lamei

    2014-02-01

    A cataract is defined as opacification of the normally transparent crystalline lens. Congenital cataract (CC) is a type of cataract that presents at birth or during early childhood. CC is one of the most common causes of visual impairment or blindness in children worldwide. Approximately 50% of all CC cases may have a genetic cause which is quite heterogeneous. CC occurs in a variety of morphologic configurations, including polar/subcapsular, nuclear, lamellar, sutural, cortical, membranous/capsular and complete. Nuclear cataract refers to the opacification limited to the embryonic and/or fetal nuclei of the lens. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains to be the most common cause. It can be inherited in one of the three patterns: autosomal dominant, autosomal recessive, or X-linked transmission. Autosomal dominant inheritance is the most frequent mode with high penetrance. There may be no obvious correlation between the genotype and phenotype of congenital nuclear cataract. Animal models have been established to study the pathogenesis of congenital nuclear cataract and to identify candidate genes. In this review, we highlight identified genetic mutations that account for congenital nuclear cataract. Our review may be helpful for genetic counseling and prenatal diagnosis.

  18. Treatment of hereditary optic neuropathies.

    Science.gov (United States)

    Newman, Nancy J

    2012-10-01

    The hereditary optic neuropathies are inherited disorders in which optic nerve dysfunction is a prominent feature in the phenotypic expression of disease. Optic neuropathy may be primarily an isolated finding, such as in Leber hereditary optic neuropathy and dominant optic atrophy, or part of a multisystem disorder. The pathophysiological mechanisms underlying the hereditary optic neuropathies involve mitochondrial dysfunction owing to mutations in mitochondrial or nuclear DNA that encodes proteins essential to mitochondrial function. Effective treatments are limited, and current management includes therapies directed at enhancing mitochondrial function and preventing oxidative damage, as well as genetic counselling, and supportive and symptomatic measures. New therapies, including gene therapy, are emerging via animal models and human clinical trials. Leber hereditary optic neuropathy, in particular, provides a unique model for testing promising treatments owing to its characteristic sequential bilateral involvement and the accessibility of target tissue within the eye. Lessons learned from treatment of the hereditary optic neuropathies may have therapeutic implications for other disorders of presumed mitochondrial dysfunction. In this Review, the natural history of the common inherited optic neuropathies, the presumed pathogenesis of several of these disorders, and the literature to date regarding potential therapies are summarized.

  19. 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

  20. Innovations in pediatric cataract surgery

    Directory of Open Access Journals (Sweden)

    Sudarshan Kumar Khokhar

    2017-01-01

    Full Text Available Advances in technology have made surgery in children safer and faster. The management of pediatric cataract has made rapid progress in the past decade with the availability of safer anesthesia, newer technique's, more predictable intraocular lens (IOL power calculation, a better understanding of neurobiology, genetics, amblyopia management, improved IOL designs for preventing visual axis opacification, and adjuvant postoperative care. Modern vitrectomy machines with minimally invasive instruments, radiofrequency, diathermy, and plasma blades help immensely in complicated cases. Preoperative evaluation with ultrasound biomicroscopy and optical coherence tomography (OCT allows better planning of surgical procedure. The future holds good for stem cell research, customized OCT, and Zepto (precision pulse capsulotomy.

  1. Innovations in pediatric cataract surgery.

    Science.gov (United States)

    Khokhar, Sudarshan Kumar; Pillay, Ganesh; Agarwal, Esha; Mahabir, Manish

    2017-03-01

    Advances in technology have made surgery in children safer and faster. The management of pediatric cataract has made rapid progress in the past decade with the availability of safer anesthesia, newer technique's, more predictable intraocular lens (IOL) power calculation, a better understanding of neurobiology, genetics, amblyopia management, improved IOL designs for preventing visual axis opacification, and adjuvant postoperative care. Modern vitrectomy machines with minimally invasive instruments, radiofrequency, diathermy, and plasma blades help immensely in complicated cases. Preoperative evaluation with ultrasound biomicroscopy and optical coherence tomography (OCT) allows better planning of surgical procedure. The future holds good for stem cell research, customized OCT, and Zepto (precision pulse capsulotomy).

  2. Innovations in pediatric cataract surgery

    Science.gov (United States)

    Khokhar, Sudarshan Kumar; Pillay, Ganesh; Agarwal, Esha; Mahabir, Manish

    2017-01-01

    Advances in technology have made surgery in children safer and faster. The management of pediatric cataract has made rapid progress in the past decade with the availability of safer anesthesia, newer technique's, more predictable intraocular lens (IOL) power calculation, a better understanding of neurobiology, genetics, amblyopia management, improved IOL designs for preventing visual axis opacification, and adjuvant postoperative care. Modern vitrectomy machines with minimally invasive instruments, radiofrequency, diathermy, and plasma blades help immensely in complicated cases. Preoperative evaluation with ultrasound biomicroscopy and optical coherence tomography (OCT) allows better planning of surgical procedure. The future holds good for stem cell research, customized OCT, and Zepto (precision pulse capsulotomy). PMID:28440249

  3. Monitoring Cataract Surgical Outcomes: 'Hand Written' Registration Method

    Directory of Open Access Journals (Sweden)

    Colin Cook

    2002-01-01

    Full Text Available The purpose of this hand written method of monitoring cataract surgery outcomes is to provide a practical method, assisting cataract surgeons and programme managers to monitor qualitatively the results of their cataract surgery. Such monitoring is the key to improving the quality and results of our cataract surgery.The hand registered method is quick, simple, and friendly to use!

  4. An update on hereditary angioedema.

    Science.gov (United States)

    Verdi, Marylee; Shaker, Marcus

    2011-01-01

    Hereditary angioedema affects approximately 1 in 50,000 individuals without gender or ethnic preference. Hereditary angioedema is caused by a decreased level (type I) or function (type II) of C1 inhibitor. Patients experience repeated episodes of angioedema involving sites that include the face, extremities, gastrointestinal tract, and larynx. Treatment involves measures to increase functioning levels of active C1 inhibitor through stimulation of endogenous pathways or exogenous supplementation. Additional therapies targeted at inhibition of bradykinin can also be used to treat episodes of angioedema. Treatment may be indicated for both acute episodes of angioedema and prevention of future episodes.

  5. Quality of care from the perspective of the cataract patient : the reliability and validity of the QUOTE-Cataract

    NARCIS (Netherlands)

    Nijkamp, MD; Sixma, HJM; Afman, H; Hiddema, F; Koopmans, SA; van den Borne, B; Hendrikse, F; Nuijts, RMMA

    2002-01-01

    Background/aims: To assess reliability and validity of the QUOTE-cataract, a questionnaire that measures the quality of care from the perspective of cataract patients. Methods: The QUOTE-cataract was tested in a multicentre study among 540 cataract patients in three different hospitals. Reliability

  6. Quality of care from the perspective of the cataract patient: the reliability and validity of the QUOTE-Cataract.

    NARCIS (Netherlands)

    Nijkamp, M.D.; Sixma, H.J.M.; Afman, H.; Hiddema, F.; Koopmans, S.A.; Borne, B. van den

    2002-01-01

    Background/aims: To assess reliability and validity of the QUOTE-Cataract, a questionnaire that measures the quality of care from the perspective of cataract patients. Methods: The QUOTE-Cataract was tested in a multicentre study among 540 cataract patients in three different hospitals. Reliability

  7. Couching for cataract in China.

    Science.gov (United States)

    Chan, Chi-Chao

    2010-01-01

    Couching for cataract is one of the most ancient surgical procedures. Maharshi Sushruta, an ancient Indian surgeon, first described the procedure around 600 BCE in Sushruta Samhita. The procedure, also known as jin pi shu in Mandarin, was introduced to China via the Silk Road during the late West Han Dynasty (206 BCE-9 CE), and it spread throughout China during the Tang Dynasty (618-907 CE). As the procedure was combined with the Chinese concept of acupuncture, jin pi shu was integrated into Chinese medical practice until the founding of the Republic of China in 1911. The government of the Republic of China considered jin pi shu to be unscientific. In 1949, the Communists established the People's Republic of China. Jin pi shu was revitalized by Chairman Mao Zedong (1893-1976), who thought that traditional Chinese medicine, including jin pi shu, was a great treasure. After his death and the opening of China to the external world, many Chinese ophthalmologists pointed out that jin pi shu had relatively high complications and a low success rate, compared to various modern techniques for cataract surgery. This procedure is gradually fading away in China. The use of jin pi shu reflects the history, culture, and political transformation of China. Published by Elsevier Inc.

  8. 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.

  9. Unfolded protein response activation in cataracts.

    Science.gov (United States)

    Torres-Bernal, Beatriz E; Torres-Bernal, Luis Fernando; Gutiérrez-Campos, Rafael R; Kershenobich Stalnikowitz, David D; Barba-Gallardo, Luis Fernando; Chayet, Arturo A; Ventura-Juárez, Javier

    2014-10-01

    To analyze the expression of 78 kDa glucose-regulated protein (GRP78) and activating transcription factor 6 (ATF6), 2 factors in the unfolded protein response (UPR), in age-related and diabetes-associated cataract. Universidad Autónoma de Aguascalientes, Aguascalientes, México. Experimental study. The qualitative and quantitative expression of GRP78 and ATF6 were measured in surgical samples from 11 senile cataracts, 9 diabetic-associated cataracts, and 3 normal lenses. Both proteins were detected by immunofluorescence and immunogold-conjugated antibodies. Quantitative morphometry was used to analyze the differences in GRP78 and ATF6 between samples. The Mann-Whitney test was used for statistical analysis. Scanning electron microscopy showed the characteristic organization of fibers in normal lenses with regular alignment and interdigitation between them. On the other hand, lenses from eyes with senile or diabetic cataract showed the same pattern of misalignment and disorganization of the fibers. Both proteins were detected through immunofluorescence in senile and diabetic cataracts, but not in normal lenses. Immunogold-conjugated antibodies and transmission electron microscopy showed that GRP78 and ATF6 grains were 30% higher and 35% higher, respectively, in diabetic cataracts than in senile cataracts (P<.05). These data show for the first time in humans that GRP78 and ATF6 are present in lens fibers of senile cataracts and diabetic cataracts, establishing that the UPR may be important in the process of cataractogenesis. 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.

  10. [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.

  11. 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.

  12. Improving cataract services in the Indian context

    Directory of Open Access Journals (Sweden)

    Gudlavalleti VS Murthy

    2014-04-01

    Full Text Available In many countries, the number of cataract operations performed is inadequate to deal even with the people who have newly become blind from cataract, let alone those who are already blind or visually impaired. There is, therefore, a backlog of cases needing surgery. This could be due to low surgical capacity (people are on a waiting list or to a lack of demand for cataract surgery (people haven’t come forward for the services they need and there is therefore no waiting list.

  13. Working with patients to optimise cataract outcomes

    Directory of Open Access Journals (Sweden)

    Nick Astbury

    2016-10-01

    Full Text Available One of the delights of ophthalmology is to witness the joy on the face of a patient with cataract when the dressing is taken off and sight has been restored. Unfortunately, for some patients, the result does not live up to their expectations. Despite cataract surgery being one of the most successful surgical interventions available, there is evidence that the visual outcome of cataract surgery in sub-Saharan Africa is not always good (defined as a VA of 6/18 or better. The proportion of good outcomes range from only 23% up to 70%, failing to reach the WHO target of 85% or better.

  14. Histology of hereditary neuralgic amyotrophy.

    NARCIS (Netherlands)

    Alfen, N. van; Gabreëls-Festen, A.A.W.M.; Laak, H.J. ter; Arts, W.F.M.; Gabreëls, F.J.M.; Engelen, B.G.M. van

    2005-01-01

    We report the findings in five muscle and three sural nerve biopsies, and in one postmortem plexus specimen, from six patients with hereditary neuralgic amyotrophy (HNA). We found that the sensory nerves are definitely involved in HNA despite the mainly motor symptoms, and that lesions in nerves and

  15. [Hereditary fructose intolerance (author's transl)].

    Science.gov (United States)

    Thanner, F

    1977-07-01

    Hereditary fructose intolerance (HFI) is the most important disturbance in human fructose metabolism. This paper deals with the present knowledge of biochemistry and pathophysiology of this inborn error of metabolism, which is often wrongly diagnosed and gives a detailed description of diagnostic and therapeutic procedures.

  16. Hereditary skin diseases of hemidesmosomes

    NARCIS (Netherlands)

    Jonkman, MF

    1999-01-01

    Studies of hereditary blistering skin diseases (epidermolysis bullosa) and targeted gene mutation experiments in knockout mice have greatly improved our understanding of hemidesmosomes and their associated structures in the cytoskeleton and basement membrane of the skin and mucous membranes. At leas

  17. 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.

  18. Glaucoma after Congenital Cataract Surgery

    Directory of Open Access Journals (Sweden)

    Mahmoodreza Panahi Bazaz

    2014-05-01

    Full Text Available Purpose: To determine the incidence and risk factors associated with glaucoma following congenital cataract surgery (CCS in children under age of 15 Methods: This prospective cohort (since 2006 consisted of children less than 15 years of age who underwent cataract surgery with or without intraocular lens (IOL implantation. The role of the following factors on the development of glaucoma after CCS including age at surgery, gender, laterality of the cataract, IOL implantation, congenital ocular anomalies, intra- and postoperative complications, length of follow-up, central corneal thickness (CCT as well as the effect of the age of onset, time to development of glaucoma, and response to treatment were evaluated. Results: Overall, 161 eyes of 96 patients were included in this study of which 28 eyes developed glaucoma. Incidence of glaucoma was 17.4%. Mean±SD age at surgery was 9.3±6.9 (range, 1-24 months in glaucomatous and 40.4±41.1 (range, 1 m-13.6 year months in non-glaucomatous group (p<0.001. All glaucoma patients had the operation under two years of age. In group 1, 9 (60% and in group 2, 24 (30% patients were female (p=0.001. In group 1, 17 eyes (60.7% and in the group 2, 41 eyes (30.8% were aphakic (p=0.001. Mean time to diagnosis of glaucoma was 111.2 days (range 30-1200 days. Mean follow-up time was 3.1 years (range, 1-6 years. In 22 (78.6% eyes glaucoma was diagnosed within six months after surgery. Glaucoma was controlled with medications in 23 eyes (82% and with surgery in five eyes. Conclusion: In this study the incidence of glaucoma after CCS was 17.4% over a follow-up period of six years. Younger age at the time of lensectomy increases the risk of secondary glaucoma. IOL implantation may protect against glaucoma. Female gender was affected more than male.

  19. Genetics of Hereditary Angioedema Revisited.

    Science.gov (United States)

    Germenis, Anastasios E; Speletas, Matthaios

    2016-10-01

    Contemporary genetic research has provided evidences that angioedema represents a diverse family of disorders related to kinin metabolism, with a much greater genetic complexity than was initially considered. Convincing data have also recently been published indicating that the clinical heterogeneity of hereditary angioedema due to C1 inhibitor deficiency (classified as C1-INH-HAE) could be attributed at least in part, either to the type of SERPING1 mutations or to mutations in genes encoding for enzymes involved in the metabolism and function of bradykinin. Alterations detected in at least one more gene (F12) are nowadays considered responsible for 25 % of cases of hereditary angioedema with normal C1-INH (type III hereditary angioedema (HAE), nlC1-INH-HAE). Interesting data derived from genetic approaches of non-hereditary angioedemas indicate that other immune pathways might be implicated in the pathogenesis of HAE. More than 125 years after the recognition of the hereditary nature of HAE by Osler, the heterogeneity of clinical expressions, the genetics of this disorder, and the genotype-phenotype relationships, still presents a challenge that will be discussed in this review. Large scale, in-depth genetic studies are expected not only to answer these emerging questions but also to further elucidate many of the unmet aspects of angioedema pathogenesis. Uncovering genetic biomarkers affecting the severity of the disease and/or the effectiveness of the various treatment modalities might lead to the prevention of attacks and the optimization of C1-INH-HAE management that is expected to provide a valuable benefit to the sufferers of angioedema.

  20. Cataracts

    Science.gov (United States)

    ... Uveitis Focus On Pediatric Ophthalmology Education Center Oculofacial Plastic Surgery Center Laser Surgery Education Center Redmond Ethics Center ... Uveitis Focus On Pediatric Ophthalmology Education Center Oculofacial Plastic Surgery Center Laser Surgery Education Center Redmond Ethics Center ...

  1. Cataract

    Science.gov (United States)

    ... activities such as driving, reading, or looking at computer or video screens, even with glasses. Some people ... M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health ...

  2. Cataract

    Science.gov (United States)

    ... to the other. Common symptoms are Blurry vision Colors that seem faded Glare - headlights, lamps or sunlight ... the cloudy lens and replacing it with an artificial lens. Wearing sunglasses and a hat with a ...

  3. Microphakonit: 700 micron cataract surgery.

    Science.gov (United States)

    Agarwal, Amar; Trivedi, Rupal H; Jacob, Soosan; Agarwal, Athiya; Agarwal, Sunita

    2007-09-01

    We describe the smallest incision cataract removal technique, Microphakonit, in which bimanual phacoemulsification can be performed with a 0.7 mm phaco tip and 0.7 mm irrigating chopper. Cortical removal is done using 22 gauge or 0.7 mm irrigation/aspiration instruments. The technique was used for 25 adult human eyes with grade 2 nuclear sclerosis and 5 adult human eyes with grade 3 nuclear sclerosis. None of these patients were noted to have intraoperative complications. One eye with grade 3 nuclear sclerosis had mild, central striate keratopathy postoperatively. Six months after surgery, 92% of the patients had a best corrected visual acuity (BCVA) of 20/20 and 96% had >/=20/25.

  4. 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

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

    African Journals Online (AJOL)

    Keywords: cataract surgery, dexmedetomidine, intraocular pressure, patient and surgeon satisfaction, topical ... heart rate (HR), mean arterial pressure (MAP), respiratory rate (RR), .... Despite an apparently normal etCO2 on monitor, any.

  6. Intraocular lens employed for cataract surgery

    Science.gov (United States)

    Roszkowska, A. M.; Torrisi, L.

    2014-04-01

    The aim of this paper is to illustrate the techniques of cataract surgery with implantation of intraocular lenses and some physical properties of the used materials. The new technology, coupled with extensive experience and the studied cases, permits to increase the standardization and accuracy of the engravings, by reducing the use and handling of surgical instruments inside the eye. At present it is possible to replace the cataract with crystalline lenses based on biopolymers such as PMMA, silicone, acrylic hydrophilic and hydrophobic acrylic. These materials are increasingly able to replace the natural lens and to ensure the fully functional of the eye. The role of femtosecond lasers in cataract surgery, to assist or replace several aspects of the manual cataract surgery, are discussed.

  7. Congenital and infantile cataract: aetiology and management.

    Science.gov (United States)

    Chan, Wai H; Biswas, Susmito; Ashworth, Jane L; Lloyd, I Christopher

    2012-04-01

    Congenital cataract is the commonest worldwide cause of lifelong visual loss in children. Although congenital cataracts have a diverse aetiology, in many children, a cause is not identified; however, autosomal dominant inheritance is commonly seen. Early diagnosis either on the post-natal ward or in the community is important because appropriate intervention can result in good levels of visual function. However, visual outcome is largely dependent on the timing of surgery when dense cataracts are present. Good outcomes have been reported in children undergoing surgery before 6 weeks of age in children with unilateral cataract and before 10 weeks of age in bilateral cases. Placement of an artificial intraocular lens implant after removal of the cataract has become established practice in children over 2 years of age. There remains debate over the safety and predictability of intraocular lens implantation in infants. Despite early surgery and aggressive optical rehabilitation, children may still develop deprivation amblyopia, nystagmus, strabismus, and glaucoma. The diagnosis and management of congenital cataracts has improved substantially over the past 30 years with a concurrent improvement in outcomes for affected children. Many aspects of the pre-, intra-, and postoperative management of these patients continue to be refined, highlighting the need for good quality data and prospective collaborative studies in this field.

  8. 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....

  9. Cataract blindness in the developing world: is there a solution?

    Science.gov (United States)

    Isaacs, Robert; Ram, Jagat; Apple, David

    2004-01-01

    Cataracts are the leading cause of blindness worldwide, accounting for half of the world's 40 million blind. The majority of the world's 20 million cataract blind live in the developing world. About 5 million new cases of cataract blindness occur each year. Only a small percentage of persons in the Third World who develop cataracts receive cataract surgery. Cataract blindness causes severe economic and social problems in these countries. Because of increased longevity and population growth in the Third World, the number of untreated cataract cases is escalating rapidly. Governmental, non-governmental and service club organizations have put extraordinary effort and resources into reversing the trend of increasing cataract blindness, but much work still needs to be done. Current surgical methods used in the Third World have not yet succeeded in reducing the backlog of cataracts, due in part to either their prohibitive cost or poor results. Extra capsular cataract extraction (ECCE) with placement of a posterior chamber intraocular lens (PC-IOL) is the hope for preferred method of treatment. This paper discusses a largely overlooked method of cataract surgery which may be an additional, cost-effective and efficacious means of providing good sight rehabilitation. Combining intracapsular cataract extraction, currently the most common method used in the rural developing world, with anterior chamber intraocular lens implantation (ICCE AC-IOL), may prove effective in reducing the cataract backlog in developing countries.

  10. An overview of hereditary pancreatitis.

    Science.gov (United States)

    Rebours, Vinciane; Lévy, Philippe; Ruszniewski, Philippe

    2012-01-01

    Hereditary pancreatitis is a rare cause of chronic pancreatitis. The prevalence was evaluated to 0.3/100000 in Western Countries. Genetic disorders are due to mutations of the PRSS1 gene on the long arm of the chromosome 7, encoding for the cationic trypsinogen. The inheritance pattern is autosomal dominant with an incomplete penetrance (80%). Since 1996, more than 30 mutations were found. The three more common mutations are R122H, N29I and A16V. First symptoms begin since childhood, mainly before 10 years old. Main symptoms are pancreatic pain and acute pancreatitis (>70%). CP morphological changes as pancreatic calcifications are diagnosed at a median age of 22-25 years. Exocrine and endocrine pancreatic insufficiency occurred in 34% and 26% at a median age of 29 and 38 years. No clinical differences exist according to the mutation type. No excess of mortality in hereditary pancreatitis population compared to general population was found, despite a real risk of cancer. The cumulative risks of pancreatic cancer at 50, 60 and, 75 years are 10%, 18.7% and, 53.5%, respectively. The relative risk of cancer increases in smokers and is evaluated to 8.55. Hereditary pancreatitis diagnosis permits to propose an adapted management in expert centres.

  11. Cataract blindness, surgical coverage, outcome, and barriers to uptake of cataract services in Plateau State, Nigeria

    Directory of Open Access Journals (Sweden)

    Ojo P Odugbo

    2012-01-01

    Full Text Available Purpose: The purpose was to estimate the prevalence of blindness due to cataract, assess visual outcomes of cataract surgery, and determine the cataract surgical coverage rate and barriers to uptake of services among individuals aged 50 years or older in Plateau State, Nigeria. Materials and Methods: A population-based, cross-sectional survey of 4200 adults 50 years or older was performed. Multistage stratified random sampling, with probability proportional to size was used to select a representative sample. The Rapid Assessment of Cataract Surgical Services protocol was used. Statistical significance was indicated by (P 0.05. The prevalence of monocular blindness due to cataract was 5.9% (95% CI: 5.2-6.6%. The cataract surgical coverage for subjects with visual acuity (VA less 3/60 was 53.8% in the entire cohort; 60.5% for males and 48% for females (χ2 = 2.49, P > 0.05. The couching coverage for subjects who were blind was 12%. A total of 180 eyes underwent surgical intervention (surgery or couching for cataract, of which, 48 (26.7% eyes underwent couching. The prevalence of bilateral (pseudo aphakia was 1.5%, (95% CI: 1.2-1.9% and 2.7% (95% CI: 2.2-3.2% for unilateral (pseudo aphakia. Visual outcomes of the 180 eyes that underwent surgical intervention were good (VA ≥ 6/18 in 46 (25.6% eyes and poor (VA < 6/60 in 105 (58.3% eyes. Uncorrected aphakia was the most common cause of poor outcome (65.1%. Most subjects who underwent cataract surgery were not using spectacles 74 (71.2%. Cost and lack of awareness were the main barriers to uptake of cataract surgery services. Conclusion: Couching remains a significant challenge in Nigeria. The outcomes of cataract surgery are poor with the lack of aphakic correction being the main cause of the poor outcomes.

  12. Hereditary angioedema may not be the only cause of abdominal pain in patients with hereditary angioedema!

    OpenAIRE

    Ozgur Kartal; Sevket Arslan; Mustafa Gulec; Ahmet Zafer Caliskaner; Abdullah Baysan; Nail Ersoz; Ugur Musabak; Osman Sener

    2016-01-01

    Abdominal pain is one of the basic clinical presentations of the hereditary angioedema and danazol is a common medicine which has been used for long years in patients with hereditary angioedema. We present two hereditary angioedema patients with abdominal pain albeit under danazol treatment, whose final diagnoses was colon carcinoma. There are two consequences in this article which shall be insisted on: First; in patients with hereditary angioedema, the differential diagnosis of and ldquo;ab...

  13. Genetics Home Reference: hereditary antithrombin deficiency

    Science.gov (United States)

    ... Merck Manual Home Edition for Patients and Caregivers: Thrombophilia National Blood Clot Alliance: Antithrombin Deficiency Orphanet: Hereditary thrombophilia due to congenital antithrombin deficiency Patient Support and ...

  14. Idiopathic Thrombocytopenic Purpura Misdiagnosed as Hereditary Angioedema

    DEFF Research Database (Denmark)

    Andersen, Michelle Fog; Bygum, Anette

    2015-01-01

    Hereditary angioedema is a rare, but potentially life-threatening genetic disorder that results from an autosomal dominant trait. It is characterized by acute, recurrent attacks of severe local edema, most commonly affecting the skin and mucosa. Swelling in hereditary angioedema patients does...... 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...... of hereditary angioedema. The case illustrates how clinicians can have difficulties in handling patients with rare diseases, especially in the emergency care setting....

  15. Genetics Home Reference: hereditary fructose intolerance

    Science.gov (United States)

    ... Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Hereditary Fructose Intolerance Health Topic: Carbohydrate Metabolism Disorders Genetic and Rare Diseases Information Center (1 ...

  16. Tools to fight the cataract epidemic: A review of experimental animal models that mimic age related nuclear cataract.

    Science.gov (United States)

    Lim, Julie C; Umapathy, Ankita; Donaldson, Paul J

    2016-04-01

    Cataract is the leading cause of blindness worldwide and accounts for approximately half of all forms of vision loss. Currently, the only way to treat cataracts is by surgery. However, with an ageing population, the demand for surgery and the need for cost effective alternative solutions grows exponentially. To reduce the need for cataract surgery, alternative medical therapies to delay cataracts are urgently required. However, given the difficulty in accessing human cataract lenses, investigating the process of cataract formation and testing the efficacy of potential therapies in humans is problematic. Therefore, researchers have looked to create suitable animal models of cataractogenesis to identify therapeutic options. This review will provide an overview of the cataract specific changes previously reported in human cataract lenses, before focussing on the specific changes that occur in age related nuclear (ARN) cataract, the most common form of cataract in humans. This will be followed by a discussion of a range of existing animal cataract models and their respective suitability for mimicking the processes associated with the development of ARN cataract, and therefore their utility as models to test anti-cataract therapies for future use in humans. Copyright © 2015 Elsevier Ltd. All rights reserved.

  17. Combined cataract and glaucoma surgery: trabeculectomy versus endoscopic laser cycloablation.

    Science.gov (United States)

    Gayton, J L; Van Der Karr, M; Sanders, V

    1999-09-01

    To determine whether combined cataract surgery with endoscopic laser cycloablation produces less inflammation than cataract surgery combined with a filtering procedure. Taylor Regional Hospital (surgeries) and EyeSight Associates (examinations), Warner Robins, Georgia, USA. A randomized prospective study was conducted of 58 eyes of 58 patients comparing endoscopic laser cycloablation performed through a cataract incision at the time of cataract surgery with combined trabeculectomy and cataract surgery. Mean follow-up was 2 years. At the final available visit, 30% of endoscopic laser patients achieved intraocular pressure control (below 19 mm Hg) without medication and 65% with medication. Forty percent of trabeculectomy patients achieved control without medication and 52% with medication. Four endoscopic laser patients (14%) and 3 trabeculectomy patients (10%) were considered treatment failures (required additional surgical intervention). Endoscopic laser cycloablation performed through a cataract incision was a reasonably safe and effective alternative to combined cataract and trabeculectomy surgery, providing an option for cataract patients who have glaucoma requiring surgical intervention.

  18. Cataract surgery during active methicillin-resistant Staphylococcus aureus infection

    National Research Council Canada - National Science Library

    Mansour, Ahmad M; Salti, Haytham I

    2014-01-01

    ...) wounds of the forehead and sternum following craniotomy or open heart surgery. Both had debilitating cataracts and were told by the infectious diseases team that cataract surgery is very risky...

  19. PVEP in Patients with Different Types of Congenital Cataract

    Institute of Scientific and Technical Information of China (English)

    1994-01-01

    The preoperative and postoperative PVEP in 79 eyes of 45 patients with three types of congenital namely lamellar cataract, nuclear cataract and total cataract was studied. The results showed that visual acuity of patients who could be cooperatively examined was improved significantly after operation. The examination of PVEP revealed that more abnormal wave-formes were found in total cataract group before operation. P1 latencies of low and medium spatial frequencies (140', 70', and 35') became much longe...

  20. Achieving target refraction after cataract surgery.

    Science.gov (United States)

    Simon, Shira S; Chee, Yewlin E; Haddadin, Ramez I; Veldman, Peter B; Borboli-Gerogiannis, Sheila; Brauner, Stacey C; Chang, Kenneth K; Chen, Sherleen H; Gardiner, Matthew F; Greenstein, Scott H; Kloek, Carolyn E; Chen, Teresa C

    2014-02-01

    To evaluate the difference between target and actual refraction after phacoemulsification and intraocular lens implantation at an academic teaching institution's Comprehensive Ophthalmology Service. Retrospective study. We examined 1275 eye surgeries for this study. All consecutive cataract surgeries were included if they were performed by an attending or resident surgeon from January through December 2010. Postoperative refractions were compared with preoperative target refractions. Patients were excluded if they did not have a preoperative target refraction documented or if they did not have a recorded postoperative manifest refraction within 90 days. The main outcome measure was percentage of cases achieving a postoperative spherical equivalent ± 1.0 diopter (D) of target spherical equivalent. We performed 1368 cataract surgeries from January through December of 2010. Of these, 1275 (93%) had sufficient information for analysis. Of the included cases, 94% (1196 of 1275) achieved ± 1.0 D of target refraction by 90 days after cataract surgery. This paper establishes a new benchmark for a teaching hospital, where 94% of patients achieved within 1.0 D of target refraction after cataract surgery. The refractive outcomes after cataract surgery at this academic teaching institution were higher than average international benchmarks. Copyright © 2014 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

  1. 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.

  2. Parinaud's oculoglandular syndrome and possibly causing cortical cataract

    OpenAIRE

    Mariana Heid Rocha Hemerly; Marcelo Berno Mattos; Fábio Petersen Saraiva; Fellipe Berno Mattos

    2014-01-01

    According to the World Health Organization, cataract is the leading cause of blindness and visual impairment throughout the world. However, the etiology of cataracts often remains unknown. This report describes the development of cortical cataract in a patient after Parinaud's oculoglandular syndrome caused by the fungus Sporothrix schenckii.

  3. 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.

  4. Parinaud's oculoglandular syndrome and possibly causing cortical cataract

    Directory of Open Access Journals (Sweden)

    Mariana Heid Rocha Hemerly

    2014-06-01

    Full Text Available According to the World Health Organization, cataract is the leading cause of blindness and visual impairment throughout the world. However, the etiology of cataracts often remains unknown. This report describes the development of cortical cataract in a patient after Parinaud's oculoglandular syndrome caused by the fungus Sporothrix schenckii.

  5. Methylphenidate (Ritalin)-associated cataract and glaucoma.

    Science.gov (United States)

    Lu, Chao-Kung; Kuang, Tung-Mei; Chou, Joe Ching-Kuang

    2006-12-01

    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.

  6. Reversible monocular cataract simulating amaurosis fugax.

    Science.gov (United States)

    Paylor, R R; Selhorst, J B; Weinberg, R S

    1985-07-01

    In a patient having brittle, juvenile-onset diabetes, transient monocular visual loss occurred repeatedly whenever there were wide fluctuations in serum glucose. Amaurosis fugax was suspected. The visual loss differed, however, in that it persisted over a period of hours to several days. Direct observation eventually revealed that the relatively sudden change in vision of one eye was associated with opacification of the lens and was not accompanied by an afferent pupillary defect. Presumably, a hyperosmotic gradient had developed with the accumulation of glucose and sorbitol within the lens. Water was drawn inward, altering the composition of the lens fibers and thereby lowering the refractive index, forming a reversible cataract. Hypoglycemia is also hypothesized to have played a role in the formation of a higher osmotic gradient. The unilaterality of the cataract is attributed to variation in the permeability of asymmetric posterior subcapsular cataracts.

  7. [Cataract surgery - essentials for the general practitioner].

    Science.gov (United States)

    Amstutz, Ch; Thiel, M A; Kaufmann, Claude

    2010-08-11

    Age-related cataracts are mainly caused by life-long accumulation of oxidative stress on the lens fibres. Symptoms include reduced visual acuity, requiring more light for reading, and glare. The only treatment that provides a cure for cataracts is surgery. Phacoemulsification represents the preferred method of lens removal. It involves fragmentation of the lens using ultrasound and insertion of an artificial intraocular lens. The preoperative assessment the general practitioner provides to surgeon and anesthesia team has an important share in the low complication rate of the procedure in the event of co-existing systemic disease. Growing patient expectation for spectacle independence following cataract surgery is met to some extent using techniques for astigmatism control and presbyo-pia-correcting intraocular lenses.

  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...... affected families without BRCA1 or BRCA2 mutations. The new pathogenic variants are rare, posing challenges to estimation of risk attribution through patient cohorts. In this Review article, we examine HBOC genes, focusing on their role in genome maintenance, the possibilities for functional testing...... of putative causal variants and the clinical application of new HBOC genes in cancer risk management and treatment decision-making....

  9. Sensory exotropia subsequent to senile cataract

    Institute of Scientific and Technical Information of China (English)

    LOU Ding-hua; XU Ye-sheng; LI Yu-min

    2005-01-01

    To evaluate the phacoemulsification and intraocular lens implantation in patients with sensory exotropia subsequent to senile cataract. The authors prospectively studied the role of phacoemulsification and intraocular lens implantation on 25 patients by observing visual acuity, ocular alignment, binocular vision and diplopia pre-, 1 month post- and 3 months post-operation. The patients underwent follow-up for three months. Postoperatively, one patient had a corrected visual acuity of 20/50, and 24 patients had 20/40 or better. The ocular alignment, binocular vision and diplopia were resolved spontaneously. Phacoemulsification and intraocular lens implantation performed together is effective on sensory exotropia subsequent to senile cataract.

  10. Outsourced cataract surgery and postoperative endophthalmitis

    DEFF Research Database (Denmark)

    Solborg Bjerrum, Søren; Kiilgaard, Jens F; Mikkelsen, Kim Lyngby;

    2013-01-01

    To compare the risk of postoperative endophthalmitis (PE) after cataract surgery at eye departments in public hospitals and private hospitals/eye clinics and to evaluate if the Danish National Patient Registry (NPR) is a reliable database to monitor the PE risk.......To compare the risk of postoperative endophthalmitis (PE) after cataract surgery at eye departments in public hospitals and private hospitals/eye clinics and to evaluate if the Danish National Patient Registry (NPR) is a reliable database to monitor the PE risk....

  11. Mini-rhexis for white intumescent cataracts

    Directory of Open Access Journals (Sweden)

    Newton Kara-Junior

    2009-04-01

    Full Text Available PURPOSE: To compare the intraoperative safety of two techniques of capsulorhexis for intumescent white cataracts: traditional one-stage continuous curvilinear capsulorhexis and two-stage continuous curvilinear capsulorhexis. METHODS: This prospective comparative randomized study included two groups: the 1-CCC group (11 patients received traditional one-stage continuous curvilinear capsulorhexis with 5-6 mm diameter, and the 2-CCC (13 patients group received a deliberately small continuous curvilinear capsulorhexis that was secondarily enlarged, or a two-stage continuous curvilinear capsulorhexis. Patients were stratified according to cataract subset, which was characterized echographically. Six patients were considered as type 1, fifteen as type 2 and three as type 3. Type 1 included intumescent white cataracts with cortex liquefaction and extensive internal acoustic reflections, type 2 included white cataracts with voluminous nuclei, a small amount of whitish solid cortex, and minimal internal acoustic reflections, and type 3 included white cataracts with fibrous anterior capsules and few internal echo spikes. RESULTS: With the one-stage technique, 46.15% of patients had leakage of the liquefied cortex; in addition, the surgeon perceived high intracapsular pressure in 61.53% of cases. Anterior capsule tears occurred in 23.07% of cases, discontinuity of capsulorhexis in 30.79% of cases and no posterior capsular rupture occurred. With the two-stage technique, leakage of the liquefied cortex occurred in 45.45% of cases; additionally, the surgeon perceived high intracapsular pressure in 36.36% of cases. No anterior capsule tears, discontinuity of capsulorhexis or posterior capsular rupture occurred. Considering each cataract subset, there was a higher incidence of leakage for type 2 as compared to types 1 and 3. CONCLUSIONS: Two-stage continuous curvilinear capsulorhexis helps prevent unexpected radial tears of the initial capsulotomy from high

  12. Management of coexisting cataract and glaucoma.

    Science.gov (United States)

    Crichton, Andrew

    2010-03-01

    The optimal management of cataract in the glaucoma patient must be constantly updated as advances in both subspecialties impact the surgical decision. The primary considerations at this time include combining the procedures as opposed to sequential operations and optimizing the effectiveness of the operations while reducing complications. Recent findings would certainly suggest an individualized approach based not only on the glaucoma and cataract condition of the patient but also on the experience of the surgeon with varied techniques. Further time and research are required to determine whether certain approaches or techniques will become more universally adopted. At present, there certainly is support for a variety of approaches.

  13. [Appropriate cataract surgery training can promote work of blindness prevention].

    Science.gov (United States)

    Zhang, Mingzhi

    2014-03-01

    Cataract is the first blinding eye disease in the world and China. However, due to various reasons, cataract surgery rate (CSR) in China is much lower than in developed countries and even some developing countries. Properly and standardized training of cataract surgery for ophthalmologists from primary hospital and young eye doctors is one of the key point to improve CSR. For above, we had explored actively to establish an appropriate and suitable training model of cataract surgery. Ophthalmologist in primary hospital can provide high quality medical services to cataract patients in accordance with their own conditions after training and promote the sustainable development of blindness prevention work.

  14. Metabolism and serum levels of tryptophan in senile cataract patients.

    Science.gov (United States)

    Costa, C; Angi, M R; De Carli, M; Vanzan, S; Allegri, G

    1982-03-30

    In order to clarify the role of tryptophan in the patogenesis of senile cataract, we have studied the serum total and free levels of tryptophan in cataract patients as compared with age and sex-matched controls, and the urinary excretion of 10 metabolites after oral load of the amino acid. This excretion increases in the cataract group both as total per cent and as kynurenine. No difference has been found in the free and total serum tryptophan between normal subjects and cataract patients. A possible role of the kynurenines in the pathogenesis of senile cataract is suggested.

  15. Prevention of cataracts in pink-eyed RCS rats by dark rearing.

    Science.gov (United States)

    O'Keefe, T L; Hess, H H; Zigler, J S; Kuwabara, T; Knapka, J J

    1990-11-01

    Royal College of Surgeons rats have hereditary retinal degeneration and associated posterior subcapsular opacities (PSO) of the lens, detectable by slitlamp at 7-8 postnatal weeks in both pink- and black-eyed rats. The retinal degeneration is intensified by light, especially in pink-eyed rats. A fourth of pink-eyed rats developed mature cataracts by 9-12 months of age, but black-eyed rats whose retinas are protected from light by pigmented irises and pigment epithelium rarely have mature cataracts (3% or less), indicating light may be a factor in cataractogenesis. Prior work had shown that dark rearing reduced the rate of retinal degeneration in pink- but not black-eyed rats, but cataracts were not studied. In the present work, pregnant pink-eyed females were placed in a darkroom 1 week before parturition. Pups were removed over intervals at 20-85 postnatal days for: (a) microscopic study of fresh lenses and of fixed, stained retina and lens, and (b) counts of cells mm-2 of the web-like vitreous cortex after it had been dissected free. The macrophage-like cells are a quantitative index of immune reaction to retinal damage. At 50-53 postnatal days, in pink-eyed cyclic light reared RCS, the mean number of macrophages was 4.6-fold that in congenic controls, but in those that were dark reared it was only 1.4-fold. This was less than the increase in cyclic light reared black-eyed RCS (2.3-fold that in congenic black-eyed controls). Total absence of light reduced retinal degeneration and the number of macrophages, and prevented PSO detectable microscopically.(ABSTRACT TRUNCATED AT 250 WORDS)

  16. 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.

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

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    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

  18. 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.

  19. Loss of Thiol Repair Systems in Human Cataractous Lenses

    Science.gov (United States)

    Wei, Min; Xing, Kui-Yi; Fan, Yin-Chuan; Libondi, Teodosio; Lou, Marjorie F.

    2015-01-01

    Purpose. The purpose of this study was to investigate the thiol repair systems of thioltransferase (TTase) and thioredoxin (Trx) and oxidation-damaged proteins in human cataractous lenses. Methods. Cataractous lenses in humans (57–85 years of age) were classified into cortical, nuclear, mixed, mature, and hypermature cataract types by using a lens opacity classification system, and were obtained by extracapsular cataract extraction (ECCE) procedure. Cortical and nuclear cataracts were grouped by decreasing order of visual acuity into optical chart reading (R), counting fingers (CF), hand motion (HM), and light perception (LP). ECCE lens homogenate was analyzed for glutathione (GSH) level and enzyme activities of TTase, glutathione reductase (GR), Trx, and thioredoxin reductase (TR). Cortical and nuclear cataractous lenses (8 of each) with visual acuity better than HM were each dissected into cortical and nuclear portions for measurement of glyceraldehyde 3-phosphate dehydrogenase (G3PD) activity. Clear lenses (in humans 49–71 years of age) were used as control. Results. Compared with control, all cataractous lenses lost more than 80% GSH and 70% GR; TR and Trx activity; and 40% to 70% TTase activity, corroborated with the loss in visual acuity. Among cataracts with R and CF visual acuity, cortical cataract lost more cortical G3PD activity (18% of control) than that of nuclear cataract (50% of control), whereas GSH depletion and TTase inactivation were similar in both cataracts. Conclusions. Thiol repair systems were damaged in all types of cataracts. Cortical and nuclear cataracts showed differential G3PD inactivation in the cortex, implying those 2 type of cataracts might be formed through different mechanisms. PMID:25537203

  20. Cataract surgery following KAMRA presbyopic implant

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    Tan TE

    2013-09-01

    Full Text Available Tien-En Tan,1,2 Jodhbir S Mehta2–4 1Yong Loo Lin School of Medicine, National University of Singapore, Singapore; 2Singapore National Eye Centre, Singapore; 3Singapore Eye Research Institute, Singapore; 4Department of Clinical Sciences, Duke-NUS Graduate Medical School, Singapore Abstract: Intrastromal corneal inlays are an emerging treatment for presbyopic patients. The KAMRA™ small aperture inlay was the first such inlay to receive Conformité Européenne (CE marking in 2005. It has been shown to improve uncorrected near and intermediate visual acuity without adversely affecting uncorrected distance visual acuity. Due to the age of presbyopic patients, they may eventually develop cataracts. In two such cases, we found that cataract surgery with the KAMRA implant left in place was not technically more difficult, and that the surgical procedure could be improved by additional ocular rotations to improve visualization. Biometry readings were reliable, and it appeared that the SRK/T formula was accurate for calculation of intraocular lens power. Cataract surgery with the KAMRA implant left in situ is a viable option for patients. Keywords: cataract surgery, KAMRA, corneal inlay, AcuTarget, presbyopia

  1. Vision. Realignment of cones after cataract removal.

    Science.gov (United States)

    Smallman, H S; MacLeod, D I; Doyle, P

    2001-08-01

    Through unique observations of an adult case of bilateral congenital cataract removal, we have found evidence that retinal photoreceptors will swiftly realign towards the brightest regions in the pupils of the eye. Cones may be phototropic, actively orientating themselves towards light like sunflowers in a field.

  2. Comprehensive Management of Pediatric Cataract in Africa

    African Journals Online (AJOL)

    A description of the common causes, clinical presentation, methods of modern surgical ... Nigerian Journal of Ophthalmology / Jan‑Jun 2016 / Vol 24 / Issue 1. 2 .... phonetic sounds to pronounce letters. ..... Indian J Med Res 2010;131:559‑64. 10. .... 41. Kleinmann G, Zaugg B, Apple DJ, Bleik J. Pediatric cataract surgery with ...

  3. Current developments in equine cataract surgery.

    Science.gov (United States)

    McMullen, R J; Utter, M E

    2010-03-01

    The purpose of this review is to discuss the evolution of equine cataract surgery over the past 50 years to its current stage. Equine cataract surgery is performed similarly compared with the techniques used in human ophthalmology and in other veterinary species. However, enough differences exist to make surgical lens removal and intraocular lens implantation in the horse an intrinsically unique endeavour. Due to the size of the adult equine globe, the introduction of species-specific instrumentation has provided the cornerstone to many of the changes made regarding surgical technique over the last 15-20 years. The continuing development of an equine specific, foldable intraocular lens implant (IOL) has provided much needed data supporting the use of such lenses in the horse to improve upon the post operative visual outcome. Finally, the methods utilised to assess visual capacity and the effects of intraocular lens implantation on the globe (e.g. ocular ultrasonography, electroretinography and streak retinoscopy) are gradually becoming more important in preoperative patient assessment and IOL development in the horse. It is the hope of the authors that a broader group of equine veterinarians will become aware of the many changes that have taken place in equine cataract surgery over the last half-century. Although aspiration was implemented nearly 40 years ago in foals for the treatment of congenital cataracts, phacofragmentation (phacoemulsification) techniques have only recently become routine in mature horses undergoing lens extraction.

  4. Simultaneous Penetrating Keratoplasty and Cataract Surgery

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    Mohammad-Ali Javadi

    2013-01-01

    Full Text Available Purpose: To determine the clinical outcomes of simultaneous penetrating keratoplasty (PK, cataract removal and intraocular lens implantation (triple procedure, and to compare the safety and efficacy of two different cataract extraction techniques during the course of PK. Methods: This retrospective comparative study was conducted on patients who had undergone a triple procedure. The technique of cataract extraction was either opensky extracapsular cataract extraction (ECCE or phacoemulsification (PE. In the ECCE group, the posterior chamber intraocular lens (PCIOL was implanted in the ciliary sulcus, while in the PE group PCIOLs were fixated within the capsular bag. Outcome measures included best spectacle corrected visual acuity (BSCVA, refractive results, graft clarity and complications. Results: Seventy-six eyes of 69 consecutive patients with mean age of 61.4±14.2 years were enrolled. Mean follow-up period was 61.4±37.2 months over which mean BSCVA was significantly improved from 1.40±0.68 to 0.44±0.33 LogMAR (P<0.001. Mean postoperative spherical equivalent refractive error was -2.13±3.02 D, which significantly differed from the target refraction (-0.73±0.29 D, P=0.004. At final follow-up, 89.5% of the corneal grafts remained clear. Conclusion: The triple procedure is a safe and effective approach to restore vision in patients with coexisting corneal pathologies and cataracts. However, unacceptable postoperative refractive error can be anticipated.

  5. Simultaneous Penetrating Keratoplasty and Cataract Surgery

    Science.gov (United States)

    Javadi, Mohammad-Ali; Feizi, Sepehr; Moein, Hamid-Reza

    2013-01-01

    Purpose To determine the clinical outcomes of simultaneous penetrating keratoplasty (PK), cataract removal and intraocular lens implantation (triple procedure), and to compare the safety and efficacy of two different cataract extraction techniques during the course of PK. Methods This retrospective comparative study was conducted on patients who had undergone a triple procedure. The technique of cataract extraction was either open- sky extracapsular cataract extraction (ECCE) or phacoemulsification (PE). In the ECCE group, the posterior chamber intraocular lens (PCIOL) was implanted in the ciliary sulcus, while in the PE group PCIOLs were fixated within the capsular bag. Outcome measures included best spectacle corrected visual acuity (BSCVA), refractive results, graft clarity and complications. Results Seventy-six eyes of 69 consecutive patients with mean age of 61.4±14.2 years were enrolled. Mean follow-up period was 61.4±37.2 months over which mean BSCVA was significantly improved from 1.40±0.68 to 0.44±0.33 LogMAR (P<0.001). Mean postoperative spherical equivalent refractive error was -2.13±3.02 D, which significantly differed from the target refraction (-0.73±0.29 D, P=0.004). At final follow-up, 89.5% of the corneal grafts remained clear. Conclusion The triple procedure is a safe and effective approach to restore vision in patients with coexisting corneal pathologies and cataracts. However, unacceptable postoperative refractive error can be anticipated. PMID:23825711

  6. Cost-utility of routine cataract surgery

    Directory of Open Access Journals (Sweden)

    Ryynänen Olli-Pekka

    2006-09-01

    Full Text Available Abstract Background If decisions on health care spending are to be as rational and objective as possible, knowledge on cost-effectiveness of routine care is essential. Our aim, therefore, was to evaluate the cost-utility of routine cataract surgery in a real-world setting. Methods Prospective assessment of health-related quality of life (HRQoL of patients undergoing cataract surgery. 219 patients (mean (SD age 71 (11 years entering cataract surgery (in 87 only first eye operated, in 73 both eyes operated, in 59 first eye had been operated earlier filled in the 15D HRQoL questionnaire before and six months after operation. Direct hospital costs were obtained from a clinical patient administration database and cost-utility analysis performed from the perspective of the secondary care provider extrapolating benefits of surgery to the remaining statistical life-expectancy of the patients. Results Mean (SD utility score (on a 0–1 scale increased statistically insignificantly from 0.82 (0.13 to 0.83 (0.14. Of the 15 dimensions of the HRQoL instrument, only seeing improved significantly after operation. Mean utility score improved statistically significantly only in patients reporting significant or major preoperative seeing problems. Of the subgroups, only those whose both eyes were operated during follow-up showed a statistically significant (p Conclusion Mean utility gain after routine cataract surgery in a real-world setting was relatively small and confined mostly to patients whose both eyes were operated. The cost of cataract surgery per quality-adjusted life year gained was much higher than previously reported and associated with considerable uncertainty.

  7. Hereditary sensory and autonomic neuropathies.

    Science.gov (United States)

    Auer-Grumbach, Michaela

    2013-01-01

    Hereditary sensory and autonomic neuropathies (HSN/HSAN) are clinically and genetically heterogeneous disorders of the peripheral nervous system that predominantly affect the sensory and autonomic neurons. Hallmark features comprise not only prominent sensory signs and symptoms and ulcerative mutilations but also variable autonomic and motor disturbances. Autosomal dominant and autosomal recessive inheritance has been reported. Molecular genetics studies have identified disease-causing mutations in 11 genes. Some of the affected proteins have nerve-specific roles but underlying mechanisms have also been shown to involve sphingolipid metabolism, vesicular transport, structural integrity, and transcription regulation. Genetic and functional studies have substantially improved the understanding of the pathogenesis of the HSN/HSAN and will help to find preventive and causative therapies in the future.

  8. The distal hereditary motor neuropathies.

    Science.gov (United States)

    Rossor, Alexander M; Kalmar, Bernadett; Greensmith, Linda; Reilly, Mary M

    2012-01-01

    The distal hereditary motor neuropathies (dHMN) comprise a heterogeneous group of diseases that share the common feature of a length-dependent predominantly motor neuropathy. Many forms of dHMN have minor sensory abnormalities and/or a significant upper-motor-neuron component, and there is often an overlap with the axonal forms of Charcot-Marie-Tooth disease (CMT2) and with juvenile forms of amyotrophic lateral sclerosis and hereditary spastic paraplegia. Eleven causative genes and four loci have been identified with autosomal dominant, recessive and X-linked patterns of inheritance. Despite advances in the identification of novel gene mutations, 80% of patients with dHMN have a mutation in an as-yet undiscovered gene. The causative genes have implicated proteins with diverse functions such as protein misfolding (HSPB1, HSPB8, BSCL2), RNA metabolism (IGHMBP2, SETX, GARS), axonal transport (HSPB1, DYNC1H1, DCTN1) and cation-channel dysfunction (ATP7A and TRPV4) in motor-nerve disease. This review will summarise the clinical features of the different subtypes of dHMN to help focus genetic testing for the practising clinician. It will also review the neuroscience that underpins our current understanding of how these mutations lead to a motor-specific neuropathy and highlight potential therapeutic strategies. An understanding of the functional consequences of gene mutations will become increasingly important with the advent of next-generation sequencing and the need to determine the pathogenicity of large amounts of individual genetic data.

  9. 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 ...

  10. Hereditary angioedema: imaging manifestations and clinical management.

    Science.gov (United States)

    Gakhal, Mandip S; Marcotte, Gregory V

    2015-02-01

    Hereditary angioedema is a genetic disorder typically related to insufficient or dysfunctional C1-esterase inhibitor. Patients present with episodic swelling of various body parts, such as the face, neck, bowel, genitals, and extremities. Acute or severe symptoms can lead to patients presenting to the emergency room, particularly when the neck and abdominopelvic regions are affected, which is often accompanied by radiologic imaging evaluation. Patients with hereditary angioedema can pose a diagnostic challenge for emergency department physicians and radiologists at initial presentation, and the correct diagnosis may be missed or delayed, due to lack of clinical awareness of the disease or lack of its consideration in the radiologic differential diagnosis. Timely diagnosis of hereditary angioedema and rapid initiation of appropriate therapy can avoid potentially life-threatening complications. This article focuses on the spectrum of common and characteristic acute imaging manifestations of hereditary angioedema and provides an update on important recent developments in its clinical management and treatment.

  11. Idiopathic Thrombocytopenic Purpura Misdiagnosed as Hereditary Angioedema

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    Michelle Fog Andersen

    2015-01-01

    Full Text Available Hereditary angioedema is a rare, but potentially life-threatening genetic disorder that results from an autosomal dominant trait. It is characterized by acute, recurrent attacks of severe local edema, most commonly affecting the skin and mucosa. Swelling in hereditary angioedema patients does 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 of hereditary angioedema. The case illustrates how clinicians can have difficulties in handling patients with rare diseases, especially in the emergency care setting.

  12. 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...

  13. Splenic Involvement in Hereditary Hemorrhagic Telangiectasia

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    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.

  14. Genetics Home Reference: hereditary cerebral amyloid angiopathy

    Science.gov (United States)

    ... Neubert TA, Lu Y, Rebeck GW, Frangione B, Greenberg SM, Ghiso J. Iowa variant of familial Alzheimer's ... ML, van Duinen SG, Roos RA, Frosch MP, Greenberg SM. The cerebral beta-amyloid angiopathies: hereditary and ...

  15. 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...

  16. A Review of Hereditary Fructose Intolerance

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    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.

  17. 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...

  18. Laser-assisted cataract surgery and other emerging technologies for cataract removal

    Directory of Open Access Journals (Sweden)

    Aasuri Murali

    1999-01-01

    Full Text Available As we near the end of this century, refractive cataract surgery has become a reality through concerted contributions from ultrasonic phacoemulsification, foldable intraocular lens (IOL implantation technology and keratorefractive surgery. As we enter the new millennium, our sights are set on realizing another dream: accommodative IOL surgery. Towards achieving this goal, many advances have been made in both techniques and technology of cataract removal. Lasers in particular have been under investigation for cataract removal for nearly two decades. The technology has now reached a stage where cataract can indeed be removed entirely with laser alone. Neodymium:YAG and erbium:YAG are the laser sources currently utilized by manufacturers of laser phaco systems. Initial clinical experience reported in the literature has served to highlight the capabilities of lasers and the need for further refinement. Despite the excitement associated with the availability of this alluring new technology for cataract removal, it is necessary to develop more effective laser systems and innovative surgical techniques that optimize its capabilities if laser phaco surgery is to be a genuine improvement over current techniques.

  19. The temerloh hospital cataract complications study: factors associated with, types and outcomes of cataract surgery complications

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    Thevi Thanigasalam

    2014-08-01

    Full Text Available AIM: To study the prevalence of complications of cataract surgery and any association between the occurrence of complications and experience of surgeon, type of surgery, type of anaesthesia and visual outcome.METHODS: This was a retrospective study of patients who underwent cataract surgery over a period of two years in a district hospital in Malaysia. The demographic details of patients, type of surgery done, as well as type of anaesthesia used and experience of the surgeon were noted. The types of intraoperative and postoperative complications were recorded. The final best corrected visual outcome was recorded.RESULTS: Complications occurred in 11.1% of the total 1007 patients operated. Posterior capsule rupture(3.6%was the most common complication. The experience of the surgeon and the type of anaesthesia used did not affect complications during surgery. Intracapsular cataract extraction(ICCEand phacoemulsification converted to extracapsular cataract extraction(ECCEwere significantly associated with more complications(PPCONCLUSION: The occurrence of complications during cataract surgery significantly affected the visual outcome. The type of surgery done was associated by the occurrence of complications. However, the experience of the surgeon and the type of anaesthesia used did not affect the occurrence of complications. We recommend that particular attention be given to ICCE and phacoemulsification converted to ECCE to minimise the complications and thereby reducing the chances of poor vision postoperatively.

  20. Manual cataract extraction via a subconjunctival limbus oblique incision for mature cataracts

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    J Yang

    2014-01-01

    Full Text Available Aims: To report the technique and outcomes of sutureless manual cataract extraction via a subconjunctival limbus oblique incision for mature cataracts. Materials and Methods: This retrospective study comprised of 112 eyes of 83 patients with mature cataract who all had manual cataract extraction via a subconjunctival limbus oblique incision. A transconjunctival tunnel is fashioned with a 3.0 mm keratome, 0.5 mm behind the limbal vascular arcades. A limbal tunnel, with a transverse extent of 9 mm in the cornea and 7.0 mm in the limbus, is created beneath the conjunctival/Tenon′s tissue using an angled bevel-up crescent blade. Outcome measures included visual acuity, intraoperative complications, surgically induced astigmatism, endothelial cell loss rate and surgery time. Results: Self-sealing wound was achieved in 112 eyes (98.2%. The nucleus was delivered in whole in 108 eyes (96.4%. Intraoperative complications included hyphema in 3 eyes (2.7%, iridodialysis in 2 eyes 1.8%, posterior capsular rupture and zonular dialysis in 2 eyes (1.8%. At the 3-month follow-up, 91% patients achieved a best-corrected visual acuity of 20/20 or better, the mean of surgically induced astigmatism was -0.62 ± 0.41 Diopters and endothelial cell loss was 4.2%. Average surgical time was 3.75 min per case. Conclusion: This subconjunctival limbus oblique incision has the potential to serve as safe and effective technique for mature cataracts.

  1. ICO-OSCAR for pediatric cataract surgical skill assessment.

    Science.gov (United States)

    Swaminathan, Meenakshi; Ramasubramanian, Srikanth; Pilling, Rachel; Li, Junhong; Golnik, Karl

    2016-08-01

    Pediatric cataract surgical skill assessment is important to ensure the competency of the trainees, especially pediatric ophthalmology fellows. Using a rubric would ensure objectivity in this process. The ICO-OSCAR pediatric cataract surgery rubric has been developed with global variations in techniques of pediatric cataract surgery in mind. Copyright © 2016 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

  2. 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.

  3. 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.

  4. 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.

  5. Elevated frequency of cataracts in birds from chernobyl.

    Science.gov (United States)

    Mousseau, Timothy Alexander; Møller, Anders Pape

    2013-01-01

    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. 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. 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.

  6. Lenticular neovascularization subsequent to traumatic cataract formation.

    Science.gov (United States)

    Kabat, Alan G

    2011-09-01

    To report a series of cases involving neovascularization within the human crystalline lens-a normally avascular structure-after ocular trauma. This is a retrospective, consecutive observational case series with review of the prevailing literature. Four individuals with a history of ocular trauma and subsequent cataract development were examined between May 2004 and April 2007. All had hypermature cataracts and intraocular inflammation, presumably secondary to phacolysis; two of the four had concurrent hyphema and ocular hypertension in the involved eye. All subjects in this series were found to display a discrete network of blood vessels within the structure of the crystalline lens, just beneath the anterior lens capsule. Neovascularization of the crystalline lens has received little attention in the ophthalmic literature, having been described only rarely in individual case reports. This manuscript details the first known case series involving lenticular neovascularization, and offers insight into its possible developmental mechanism.

  7. Management of the hard posterior polar cataract.

    Science.gov (United States)

    Chee, Soon-Phaik

    2007-09-01

    I describe a technique for managing the posterior polar cataract with a dense nucleus by initially sculpting a central trough to the depth of the polar opacity. The nucleus is partially cracked in the periphery, avoiding the polar opacity, and then chopped into quadrants without rotating. Next, the phaco tip engages the core of the nuclear quadrant while a cleavage plane is manually dissected along the lenticular lamellae using a Nagahara phaco chopper, with the tip rotated slightly so it points somewhat toward the equator of the lens, to a depth estimated to leave a nuclear shell, sparing the polar cataract. The nucleus is peeled away from the outer nucleus shell, which is kept in place by the phaco chopper. The intact nuclear plate is removed last and any capsular defect managed accordingly. This technique minimizes the risk for losing a nuclear fragment into the vitreous cavity.

  8. 晶状体蛋白与先天性白内障%Crystallin and congenital cataract

    Institute of Scientific and Technical Information of China (English)

    鞠宏; 赵堪兴

    2009-01-01

    Congenital cataract is responsible for approximately one tenth of childhood blindness worldwide.Generally,cataract includes three inheriting types:autosomal dominant,autosomal recessive or X-linked.The identified genes so far for hereditary cataracts in both human and animal model mainly include encoding structural lens protein,gap junction protein,membrane protein and regulatory protein involved in lens development.Crystallins are the major structural protein of the lens.Mutation in the crystallin genes can result in lens opacity.Understanding of the mechanism of hereditary cataract may also be helpful for us to understand the involvement of environmental and nutritional factors in the process of lens opacification.The function of the crystallins proteins,the mutations in crystallin genes and associated phenotypes are summarized.%先天性白内障是全世界约1/10盲童失明的原因,绝大多数先天性白内障为单基因遗传病,其遗传方式包括常染色体显性遗传、常染色体隐性遗传和X连锁遗传3种.迄今为止在人类及其他动物定位的遗传性先天性白内障的致病基因主要包括编码晶状体结构蛋白、缝隙连接蛋白、膜蛋白、晶状体发育中的调节蛋白的基因.晶状体蛋白是晶状体中最主要的成分,其编码基因的突变与先天性白内障的发生密切相关.了解遗传性先天性白内障的发病机制有助于理解环境及营养因素在晶状体混浊中的作用.就晶状体蛋白的功能、晶状体蛋白基因突变及其导致的先天性白内障表型进行综述.

  9. Prevalence of corneal astigmatism before cataract surgery.

    Science.gov (United States)

    Mohammadi, Mehran; Naderan, Mohammad; Pahlevani, Rozhin; Jahanrad, Ali

    2016-12-01

    The purpose of this study was to describe and analyze the prevalence and pattern of corneal astigmatism in cataract surgery candidates. In a prospective cross-sectional study, preoperative demographics, and keratometric and refractive values of cataract surgery candidates were collected from January 2013 to December 2014. Axial length (AL) and flat and steep keratometry measurements were optically measured by a partial coherence interferometry device (IOLMaster). This study consisted of 2156 eyes of 1317 patients with a mean age of 64.92 ± 11.48 (SD) (30-88 years). The mean of AL was 23.33 ± 1.37 mm, and the mean of corneal astigmatism was 1.12 ± 1.10 diopter (D) (range 0.0-7.00), in all patients. Furthermore, the mean of flat and steep keratometry were 43.70 ± 1.70 and 44.83 ± 1.79 D, respectively. Corneal astigmatism was 1.50 D or less in 1590 eyes (73.7 %), more than 1.50 D in 566 eyes (26.2 %), 3.00 D or more in 161 eyes (7.4 %), WTR in 796 eyes (36.9 %), ATR in 1010 eyes (46.8 %), and oblique in 350 eyes (16.2 %). ATR astigmatism axis significantly increased with the increase in age. Corneal astigmatism of most cataract surgery candidates fell between 0.50 and 1.50 D. The results of our study however is confined to our demographics might provide useful data for cataract patients, surgeons, and intraocular lens manufacturers for different purposes.

  10. Explicit criteria for prioritization of cataract surgery

    Directory of Open Access Journals (Sweden)

    Escobar Antonio

    2006-03-01

    Full Text Available Abstract Background Consensus techniques have been used previously to create explicit criteria to prioritize cataract extraction; however, the appropriateness of the intervention was not included explicitly in previous studies. We developed a prioritization tool for cataract extraction according to the RAND method. Methods Criteria were developed using a modified Delphi panel judgment process. A panel of 11 ophthalmologists was assembled. Ratings were analyzed regarding the level of agreement among panelists. We studied the effect of all variables on the final panel score using general linear and logistic regression models. Priority scoring systems were developed by means of optimal scaling and general linear models. The explicit criteria developed were summarized by means of regression tree analysis. Results Eight variables were considered to create the indications. Of the 310 indications that the panel evaluated, 22.6% were considered high priority, 52.3% intermediate priority, and 25.2% low priority. Agreement was reached for 31.9% of the indications and disagreement for 0.3%. Logistic regression and general linear models showed that the preoperative visual acuity of the cataractous eye, visual function, and anticipated visual acuity postoperatively were the most influential variables. Alternative and simple scoring systems were obtained by optimal scaling and general linear models where the previous variables were also the most important. The decision tree also shows the importance of the previous variables and the appropriateness of the intervention. Conclusion Our results showed acceptable validity as an evaluation and management tool for prioritizing cataract extraction. It also provides easy algorithms for use in clinical practice.

  11. Trends in cataract surgery training curricula.

    Science.gov (United States)

    Lotfipour, Mona; Rolius, Ramunas; Lehman, Erik B; Pantanelli, Seth M; Scott, Ingrid U

    2017-01-01

    To evaluate trends in cataract surgery training curricula and factors affecting timing of resident participation as a primary surgeon. Pennsylvania State College of Medicine, Hershey, Pennsylvania, USA. Cross-sectional study of anonymous survey results. A description of the study and link to an online survey was e-mailed to program directors of each ophthalmology residency training program accredited by the Accreditation Council for Graduate Medical Education (ACGME). Fifty-one (44%) of the 116 program directors completed the survey. First-year, second-year, and third-year residents performed a mean of 2, 25, and 155 phacoemulsification surgeries, respectively, as a primary surgeon. Only 1 program (2%) required residents to perform extracapsular cataract extraction (ECCE) before performing phacoemulsification. Clear corneal phacoemulsification was the first technique taught to trainees at 91% of programs. More than two thirds (71%) of program directors indicated that their program had a cataract surgery training curriculum designed to transition residents gradually to the operating room. These curricula included structured wet laboratory (92%) and lecture (89%) components. Inadequate resident knowledge and surgical skill base (57%) and anticipation of increased surgical complication risk (37%) were the most commonly reported factors impeding earlier exposure to phacoemulsification in residency. Results show that residents today begin surgical training with phacoemulsification rather than ECCE, perform a higher number of phacoemulsification surgeries than is required by the ACGME, and begin performing phacoemulsification as early as their first or second year of residency. Despite these evolutions, 29% of respondent ACGME-accredited ophthalmology residency programs reported not having a formal cataract surgery training curriculum. Copyright © 2016 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  12. Hereditary sensory neuropathy type I

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    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

  13. 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

  14. A PROSPECTIVE STUDY OF TRAUMATIC CATARACT AND ITS VISUAL OUTCOME

    Directory of Open Access Journals (Sweden)

    Siddharam S

    2014-06-01

    Full Text Available : INTRODUCTION: Ocular trauma is the leading cause of unilateral blindness all over the world.[1] The incidence of ocular trauma varies in different parts of the world. From India, the reported incidence is 20.53%.[2] Any strategy for prevention requires knowledge of the cause of injury, which may enable more appropriate targeting of resources towards preventing such injuries.[3] Eye trauma represents a large, potentially preventable burden on both victims and society as a whole. Traumatic cataracts occur secondary to blunt or penetrating ocular trauma, Infrared energy (glass-blower's cataract, electric shock and ionizing radiation are other rare causes of traumatic cataracts.[4] It form a separate category of cataracts as they present with other ocular morbidity like corneal tears, iris injury, vitreous hemorrhage and retinal tears; and they are to some extent, preventable. The methods used to evaluate the visual outcome in eyes managed for traumatic cataracts and senile cataracts are similar, but the damage to other ocular tissues owing to trauma may compromise the visual gain in eyes treated surgically for traumatic cataracts.[5] Hence, the success rates may differ between eyes with these two types of cataract. The aim of this study was to evaluate the final visual outcome of a patient with surgical extraction of traumatic cataract along with demographic features and modes of trauma.

  15. [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.

  16. 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.

  17. The molecular genetics progress of congenital cataract%先天性白内障的分子遗传学研究进展

    Institute of Scientific and Technical Information of China (English)

    孙倩倩; 杨昭庆; 黄小琴

    2012-01-01

    先天性白内障(congenital cataract)是指在孕期或胎儿期由于各种因素使晶状体发育受到影响,是儿童致盲的首要原因之一.先天性白内障有明显的临床异质性和遗传异质性,一般与晶体蛋白基因、缝隙连接蛋白基因、转录因子基因及其他基因突变有关,常见的遗传方式有常染色体显性遗传、常染色体隐性遗传和性染色体连锁遗传,其中以常染色体显性遗传最为常见.近几年先天性白内障的分子遗传学水平有了新的突破,此文就其研究进展进行综述.%Congenital cataract,defined as abnormal development of crystalline lens,is caused by various factors during pregnancy.It is one of the major causes of blindness in children.Congenital cataract is usually hereditary.The autosomal dominant inheritance with complete penetrance is the most important type.Autosomal recessive and X-linked inheritances are also frequently seen.In the development of congenital cataract,genetic factors are very important,which has obviously phenotypical and genotypical heterogeneities.The objective of this review is to discuss the progress in the molecular genetics of congenital cataracts,including the mutations of structural proteins in the lens,transcription factors,and some other genes.

  18. Prevalence of autoantibodies in a group of hereditary angioedema patients.

    Science.gov (United States)

    Dortas Junior, Sergio Duarte; Valle, Solange Oliveira Rodrigues; Levy, Soloni Afra Pires; Tortora, Rosangela P; Abe, Augusto Tiaqui; Pires, Gisele Viana; Papi, José Angelo de Souza; França, Alfeu Tavares

    2012-01-01

    Hereditary Angioedema is a dominantly inherited disease. Routine screening of autoantibodies (AAB) is not recommended for individuals with Hereditary Angioedema; however, prevalence of these antibodies in Hereditary Angioedema patients is not well documented. We aim to determine the prevalence of AAB so that individuals at risk of developing autoimmune diseases can be identified. Fifteen patients with Hereditary Angioedema attended at Clementino Fraga Filho University Hospital accepted to participate in this study. Prevalence of AAB was 40%. Our data indicate high prevalence of AAB in patients with Hereditary Angioedema. Large-scale studies should be considered to determine the significance of these AAB in the follow-up care of patients with Hereditary Angioedema.

  19. Hereditary angioedema may not be the only cause of abdominal pain in patients with hereditary angioedema!

    Directory of Open Access Journals (Sweden)

    Ozgur Kartal

    2016-09-01

    Full Text Available Abdominal pain is one of the basic clinical presentations of the hereditary angioedema and danazol is a common medicine which has been used for long years in patients with hereditary angioedema. We present two hereditary angioedema patients with abdominal pain albeit under danazol treatment, whose final diagnoses was colon carcinoma. There are two consequences in this article which shall be insisted on: First; in patients with hereditary angioedema, the differential diagnosis of and ldquo;abdominal pain and rdquo; is always important even though hereditary angioedema diagnosis exists. And the second; It can be hardy speculated that long term danazol treatment may cause different malignancies. [Cukurova Med J 2016; 41(3.000: 567-569

  20. 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

  1. Effects of Cataract Surgery on Endothelium in Transplanted Corneal Grafts: Comparison of Extracapsular Cataract Extraction and Phacoemulsification for Complicated Cataract after Penetrating Keratoplasty.

    Science.gov (United States)

    Zhou, Hong-Wei; Xie, Li-Xin

    2016-09-05

    The endothelium should be carefully evaluated when choosing a surgical technique for cataract removal. Therefore, we aimed to study the effects of different cataract surgery techniques on endothelial cell loss in transplanted corneal grafts. A total of 54 patients who received complicated cataract surgery in post-penetrating keratoplasty (PKP) eyes at the Shandong Eye Institute between February 2001 and June 2014 were included, and clinical records were reviewed. Baseline demographic details, clinical characteristics, endothelial cell density (ECD), and best-corrected visual acuity (BCVA) were recorded. Wilcoxon rank-sum test and Wilcoxon signed-rank test were used to test the equality of medians. A regression model was constructed to compare the reduced rate of ECD. Of the 54 eyes included in this study, extracapsular cataract extraction (ECCE) was performed in 34 eyes of 33 patients (ECCE group) whereas phacoemulsification was performed in 20 eyes of 20 patients (phacoemulsification group). There was no significant difference in the median age (P = 0.081) or preoperative ECD (P = 0.585) between the two groups. At 6 months after cataract surgery, ECD in ECCE group was significantly higher than that in phacoemulsification group (P = 0.043). In addition, the endothelial cell loss rate in ECCE group was significantly lower than that in phacoemulsification group at 2 months (P = 0.018), 4 months (P ECCE group (P ECCE in transplanted corneal grafts (P ECCE is more suitable than phacoemulsification in cataract surgery in complicated cataract after PKP.

  2. Hospital-based community cataract surgery: comparison of visual outcomes between conventional extra-capsular cataract extraction and small incision cataract surgery.

    Science.gov (United States)

    Karki, P; Shrestha, K; Shrestha, J B

    2009-01-01

    the small-incision cataract surgery is gaining popularity among the ophthalmic surgeons. to compare the visual outcome of conventional extra-capsular cataract extraction (ECCE) and small-incision cataract surgery (SICS) in a hospital based community cataract program. aprospective interventional study without randomization was carried out including the patients undergoing cataract surgery by either conventional ECCE or manual SICS. They were followed up for 6 weeks postoperatively. The visual outcomes were compared between the two groups. the statistical program Epi-Info version 2000 was used to analyze the data. Mean values with standard deviations, 95% CI and p value were calculated. The p value ofECCE and 41 (M: F=15:26) SICS (RR= 0.71, 95% CI=0.42-1.2, p value=0.16). Unaided visual acuity on the 1st postoperative day in the ECCE group was e"6/ 18 in 22.7%,ECCE group was e"6/18 in 79.5%,ECCE and SICS are good procedures for hospital based community cataract surgery but within the 6 weeks postoperative period SICS gives better visual outcome. Remarkably higher number of female patients can be provided service in a hospital based community cataract programme as compared to males.

  3. The clinical phenotype analysis of 116 congenital cataract patients in Yunnan province%云南省116例先天性白内障的临床形态分析

    Institute of Scientific and Technical Information of China (English)

    李娟娟; 马璇; 胡竹林

    2011-01-01

    Background Congenital cataract is the major cause of blindness in children with plentiful clinical manifestations and closely linked with genetics. Objective Present study was to investigate the classification of congenital cataract in Yunnan province.Methods The manifestation characteristics of 184 eyes of 116 patients with congenital cataract in Yunnan province were analyzed.The relationship of performance of various types of congenital cataract between phenotype and hereditary feature were explored. Results All of the 116 congenital cataract eyes from 116 patients were divided into ten types based on the clinical appearance,including the complete cataract,nuclear cataract,posterior polar cataract,anterior polar cataract,coralliform cataract,coronary cataract,pulverulent cataracts,lamellar cataract and blue cataract.Bilateral nuclear cataract and unilateral entire cataract is most prevalent in these patients.Blue cataract and coralliform cataract belong to the less types.Forty-four in 116 cases were found to have the hereditary history and determined as autosomal dominant inheritance.Sporadic cases were determined in 72 cases.Conclusions The analysis of phenotype of the hereditary congenital cataract offers some clues to the classification of congenital cataract.%背景 先天性白内障是儿童主要的致盲眼病之一,其临床表现多样,并与遗传学有着密切联系.目的 探讨云南省先天性白内障患者的临床形态特点.方法 回顾性分析2005年1月至2010年1月在云南省红十字会医院眼科诊断和治疗的先天性白内障患者116例184眼,裂隙灯下检查患眼前后节,根据晶状体混浊的部位、形态等进行分类,分析晶状体混浊的形态学特点及各类型的发病情况,并探讨先天性白内障表现型和遗传型之间的关系.结果116例患者按晶状体混浊的临床形态特点分为10种类型,包括全白内障、核性白内障、后极性白内障、前极性白内障、缝性白内

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

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    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.

  5. Genetics Home Reference: hereditary sensory and autonomic neuropathy type V

    Science.gov (United States)

    ... Conditions HSAN5 hereditary sensory and autonomic neuropathy type V Enable Javascript to view the expand/collapse boxes. ... All Description Hereditary sensory and autonomic neuropathy type V ( HSAN5 ) is a condition that primarily affects the ...

  6. Endocrine dysfunction in hereditary hemochromatosis.

    Science.gov (United States)

    Pelusi, C; Gasparini, D I; Bianchi, N; Pasquali, R

    2016-08-01

    Hereditary hemochromatosis (HH) is a genetic disorder of iron overload and subsequent organ damage. Five types of HH are known, classified by age of onset, genetic cause, clinical manifestations and mode of inheritance. Except for the rare form of juvenile haemochromatosis, symptoms do not usually appear until after decades of progressive iron loading and may be triggered by environmental and lifestyle factors. Despite the last decades discovery of genetic and phenotype diversity of HH, early studies showed a frequent involvement of the endocrine glands where diabetes and hypogonadism are the most common encountered endocrinopathies. The pathogenesis of diabetes is still relatively unclear, but the main mechanisms include the loss of insulin secretory capacity and insulin resistance secondary to liver damage. The presence of obesity and/or genetic predisposition may represent addictive risk factor for the development of this metabolic disease. Although old cases of primary gonad involvement are described, hypogonadism is mainly secondary to selective deposition of iron on the gonadotropin-producing cells of the pituitary gland, leading to hormonal impaired secretion. Cases of hypopituitarism or selected tropin defects, and abnormalities of adrenal, thyroid and parathyroid glands, even if rare, are reported. The prevalence of individual gland dysfunction varies enormously within studies for several bias due to small numbers of and selected cases analyzed, mixed genotypes and missing data on medical history. Moreover, in the last few years early screening and awareness of the disease among physicians have allowed hemochromatosis to be diagnosed in most cases at early stages when patients have no symptoms. Therefore, the clinical presentation of this disease has changed significantly and the recognized common complications are encountered less frequently. This review summarizes the current knowledge on HH-associated endocrinopathies.

  7. Late onset hereditary episodic ataxia.

    Science.gov (United States)

    Damak, M; Riant, F; Boukobza, M; Tournier-Lasserve, E; Bousser, M-G; Vahedi, K

    2009-05-01

    Episodic ataxias (EA) are hereditary paroxysmal neurological diseases with considerable clinical and genetic heterogeneity. So far seven loci have been reported and four different genes have been identified. Analysis of additional sporadic or familial cases is needed to better delineate the clinical and genetic spectrum of EA. A two generation French family with late onset episodic ataxia was examined. All consenting family members had a brain MRI with volumetric analysis of the cerebellum. Haplotype analysis was performed for the EA2 locus (19p13), the EA5 locus (2q22), the EA6 locus (5p13) and the EA7 locus (19q13). Mutation screening was performed for all exons of CACNA1A (EA2), EAAT1 (EA6) and the coding sequence of KCNA1 (EA1). Four family members had episodic ataxia with onset between 48 and 56 years of age but with heterogeneity in the severity and duration of symptoms. The two most severely affected had daily attacks of EA with a slowly progressive and disabling permanent cerebellar ataxia and a poor response to acetazolamide. Brain MRI showed in three affected members a decrease in the ratio of cerebellar volume:total intracranial volume, indicating cerebellar atrophy. No deleterious mutation was found in CACNA1A, SCA6, EAAT1 or KCNA1. In addition, the EA5 locus was excluded. A new phenotype of episodic ataxia has been described, characterised clinically by a late onset and progressive permanent cerebellar signs, and genetically by exclusion of the genes so far identified in EA.

  8. Barriers to cataract surgery in Africa: A systematic review

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    Shaheer Aboobaker

    2016-01-01

    Full Text Available Cataract remains the leading cause of blindness in Africa. We performed a systematic literature search of articles reporting barriers to cataract surgery in Africa. PubMed and Google Scholar databases were searched with the terms "barriers, cataract, Africa, cataract surgery, cataract surgical coverage (CSC, and rapid assessment of avoidable blindness (RAAB." The review covered from 1999 to 2014. In RAAB studies, barriers related to awareness and access were more commonly reported than acceptance. Other type of studies reported cost as the most common barrier. Some qualitative studies tended to report community and family dynamics as barriers to cataract surgery. CSC was lower in females in 88.2% of the studies. The variability in outcomes of studies of barriers to cataract surgery could be due to context and the type of data collection. It is likely that qualitative data will provide a deeper understanding of the complex social, family, community, financial and gender issues relating to barriers to uptake of cataract surgery in Africa.

  9. Results of Cataract Outreach Services in a State of Nigeria

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    Abdu Lawan

    2010-06-01

    Full Text Available AIM: A blindness prevalence survey in 1996 indicated that estimates of 40000 are blind from cataracts in Kano state, northwestern Nigeria. Many more were severely visually impaired. Eye care personnel and other resources for eye care delivery are located at the state capital. The state Ministry of Health organized an outreach program. The aim was to operate on 750 cataract patients and measure the visual acuity at two weeks follow up. METHOD: Patients were registered and examined. Cataract patients with accurate four quadrant light projection, briskly reacting pupils and normal intra ocular pressures were selected and had manual extra capsular cataract extraction with posterior chamber intra ocular lens implantation. Post operative medications were administered. Patients were reviewed at 2 weeks follow up after discharge during which their visual acuity was measured and recorded. RESULTS: 868 cataract patients were operated. Thirty two percent of the patients were blind before surgery and 77% of these had bilateral cataracts. The proportion of those who had posterior chamber intra ocular lens (PC IOL was 85%. The proportion of patients who regained normal vision was 43% and overall, 94% had vision of 6/60 or, better after surgery compared with 20% in this category before surgery, (WHO vision category 0 and 1. CONCLUSION: Cataract outreach service is essential in reducing cataract blindness. There is need to follow up patients although the vision recorded for this study was obtained at two weeks follow up. [TAF Prev Med Bull 2010; 9(3.000: 225-228

  10. Radiation hybrid mapping of cataract genes in the dog

    NARCIS (Netherlands)

    Hunter, L; Sidjanin, D; Johnson, J; Zangerl, B; Galibert, F; Andre, C; Kirkness, E; Talamas, E; Acland, G; Aguirre, G

    2006-01-01

    Purpose: To facilitate the molecular characterization of naturally occurring cataracts in dogs by providing the radiation hybrid location of 21 cataract-associated genes along with their closely associated polymorphic markers. These can be used for segregation testing of the candidate genes in canin

  11. Congenital cataract screening in maternity wards is effective

    DEFF Research Database (Denmark)

    Magnusson, Gunilla; Bizjajeva, Svetlana; Haargaard, Birgitte;

    2013-01-01

    screening policy. Response frequency was 96% (122/127). Data were derived from The Pediatric Cataract Register, PECARE Sweden. All Swedish children diagnosed with congenital cataract and operated on before 1 year of age between January 2007 and December 2009 were included. Statistical comparison...

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

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    Jean-Baptiste Randrianaivo

    2014-01-01

    Conclusions: 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. Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.

    NARCIS (Netherlands)

    Shabo, G.; Scheffer, H.; Cruysberg, J.R.M.; Lammens, M.M.Y.; Pasman, J.W.; Spruit, M.; Willemsen, M.A.A.P.

    2005-01-01

    Congenital cataracts facial dysmorphism neuropathy syndrome is a recently delineated autosomal recessive condition exclusively found in the Gypsy population. Congenital cataracts facial dysmorphism neuropathy syndrome is caused by a homozygous mutation in the CTDP1 gene, leading to disruption of the

  14. Outcomes of Cataract Surgery Following Treatment for Retinoblastoma

    Science.gov (United States)

    Kim, Hyeong Min; Lee, Byung Joo; Kim, Jeong Hun

    2017-01-01

    Purpose To evaluate the long-term visual outcomes and complications of cataract surgery in eyes previously treated for retinoblastoma. Methods We reviewed the medical records of patients who underwent cataract extraction and intraocular lens implantation at Seoul National University Children's Hospital for a secondary cataract that developed after retinoblastoma treatment. Results During the period between 1990 and 2014, 208 eyes of 147 patients received eye-salvaging treatment (radiotherapy, chemotherapy, and local therapy) for retinoblastoma at Seoul National University Children's Hospital. Among these eyes, a secondary cataract was detected in 17 eyes of 14 patients, and five eyes of five patients underwent cataract surgery. The median age of cataract formation was 97 months (range, 38 to 153 months). The medial interval between the diagnosis of retinoblastoma and cataract formation was 79 months (range, 29 to 140 months). All patients received posterior chamber intraocular lens insertion after irrigation and aspiration of the lens through a scleral tunnel incision. Anterior vitrectomy and posterior capsulotomy were performed in two eyes and a laser capsulotomy was subsequently performed in one eye. No intraoperative and postoperative complications occurred. The median follow-up after surgery was 36 months (range, 14 to 47 months). The final best corrected visual acuities were improved in all five eyes. No intraocular tumor recurrences or metastases occurred. Conclusions After retinoblastoma regression, cataract extraction in our series was not associated with tumor recurrence or metastasis. Visual improvement was noted in every patient. PMID:28243024

  15. Bilateral Severe Ectropion and Mature Cataract in Lamellar Ichthyosis

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    Intiyaz A. Lone, Reyaz A. Untoo, Sheikh S. Ahmad

    2004-07-01

    Full Text Available Lamellar ichthyosis is a rare, autosomal recessive, genetically heterogeneous skin disorder causedby mutations in the transglutaminase-1 gene. Eye abnormalities include bilateral ectropion of lowerlids, chronic blepharitis and rarely cataract. A case of lamellar ichthyosis with bilateral lower lidectropion and bilateral mature cataract is hereby presented for its rarity.

  16. Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family.

    Science.gov (United States)

    Shentu, Xingchao; Miao, Qi; Tang, Xiajing; Yin, Houfa; Zhao, Yingying

    2015-01-01

    Congenital cataracts are major cause of visual impairment and blindness in children and previous studies have shown about 1/3 of non-syndromic congenital cataracts are inherited. Major intrinsic protein of the lens (MIP), also known as AQP0, plays a critical role in transparency and development of the lens. To date, more than 10 mutations in MIP have been linked to hereditary cataracts in humans. In this study, we investigated the genetic and functional defects underlying a four-generation Chinese family affected with congenital progressive cortical punctate cataract. Mutation screening of the candidate genes revealed a missense mutation at position 448 (c.448G>C) of MIP, which resulted in the substitution of a conserved aspartic acid with histidine at codon 150 (p.D150H). By linkage and haplotype analysis, we obtained positive multipoint logarithm of odds (LOD) scores at microsatellite markers D12S1632 (Zmax = 1.804 at α = 1.000) and D12S1691 (Zmax = 1.806 at α = 1.000), which flanked the candidate locus. The prediction results of PolyPhen-2 and SIFT indicated that the p.D150H mutation was likely to damage to the structure and function of AQP0. The wild type and p.D150H mutant AQP0 were expressed in HeLa cells separately and the immunofluorescence results showed that the WT-AQP0 distributed at the plasma membrane and in cytoplasm, while AQP0-D150H failed to reach the plasma membrane and was mainly retained in the Golgi apparatus. Moreover, protein levels of AQP0-D150H were significantly lower than those of wide type AQP0 in membrane-enriched lysates when the HEK-293T cells were transfected with the same amount of wild type and mutant plasmids individually. Taken together, our data suggest the p.D150H mutation is a novel disease-causing mutation in MIP, which leads to congenital progressive cortical punctate cataract by impairing the trafficking mechanism of AQP0.

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

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    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

  18. Genetic profiles distinguish different types of hereditary ovarian cancer

    DEFF Research Database (Denmark)

    Domanska, Katarina; Malander, Susanne; Staaf, Johan

    2010-01-01

    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 canc...... 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. Pancreatic cancer risk in hereditary pancreatitis

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    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.

  20. Hereditary cerebral small vessel disease and stroke

    DEFF Research Database (Denmark)

    Søndergaard, Christian Baastrup; Nielsen, Jørgen Erik; Hansen, Christine Krarup

    2017-01-01

    of this systematic review is to provide a guide for determining when to consider molecular genetic testing in patients presenting with small vessel disease and stroke. CADASIL, CARASIL, collagen type IV mutations (including PADMAL), retinal vasculopathy with cerebral leukodystrophy, Fabry disease, hereditary...... cerebral hemorrhage with amyloidosis, and forkhead box C1 mutations are described in terms of genetics, pathology, clinical manifestation, imaging, and diagnosis. These monogenic disorders are often characterized by early-age stroke, but also by migraine, mood disturbances, vascular dementia and often gait......Cerebral small vessel disease is considered hereditary in about 5% of patients and is characterized by lacunar infarcts and white matter hyperintensities on MRI. Several monogenic hereditary diseases causing cerebral small vessel disease and stroke have been identified. The purpose...

  1. High liver glycogen in hereditary fructose intolerance.

    Science.gov (United States)

    Cain, A R; Ryman, B E

    1971-11-01

    A case of hereditary fructose intolerance is reported in a girl aged 2 years at the time of her death. She had apparently progressed normally until the age of 14 months. At 19 months she was admitted to hospital with failure to thrive, hepatomegaly, and superficial infections. Investigations revealed hypoglycaemia, persistent acidosis, aminoaciduria, and a high liver glycogen level which suggested that she had glycogen storage disease. There was also some evidence of malabsorption. At necropsy the liver enzyme estimations showed that fructose 1-phosphate aldolase activity was absent and that fructose 1,6-diphosphate aldolase activity was reduced. Hereditary fructose intolerance and glycogen storage disease have been confused in the past on clinical grounds, but a high liver glycogen level has not previously been reported in hereditary fructose intolerance.

  2. Hereditary Cerebellar Ataxias: A Korean Perspective

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    Ji Sun Kim

    2015-05-01

    Full Text Available Hereditary ataxia is a heterogeneous disorder characterized by progressive ataxia combined with/without peripheral neuropathy, extrapyramidal symptoms, pyramidal symptoms, seizure, and multiple systematic involvements. More than 35 autosomal dominant cerebellar ataxias have been designated as spinocerebellar ataxia, and there are 55 recessive ataxias that have not been named systematically. Conducting genetic sequencing to confirm a diagnosis is difficult due to the large amount of subtypes with phenotypic overlap. The prevalence of hereditary ataxia can vary among countries, and estimations of prevalence and subtype frequencies are necessary for planning a diagnostic strategy in a specific population. This review covers the various hereditary ataxias reported in the Korean population with a focus on the prevalence and subtype frequencies as the clinical characteristics of the various subtypes.

  3. Current research in congenital cataract genes%先天性白内障致病基因的研究进展

    Institute of Scientific and Technical Information of China (English)

    周蓬勃

    2013-01-01

    Congenital cataract is the leading cause for low vision and blindness in infancy and childhood.One third of congenital cataract cases are associated with genetic mutation and hereditary,and the etiology of congenital cataract is heterogenous and its phenotype is variable.The known mutation genes include encoding structural lens protein,gap junction protein,membrane protein and lens-developing-related regulatory protein.Location and identification of mutation genes in congenital cataract patients are necessary for us to understand the molecular defects and pathophysiologic features of congenital cataract.With the development of molecular biology techniques,the study on the mechanism of congenital cataract has made great progress,which is helpful for us to further understand the heredity pattern as well as the influence of environment and nourishment to the metabolism of lens.The purpose of this review was to summarize the literature of current advance in the study on molecular genetic basis of congenital cataract.%先天性白内障是导致儿童低视力和失明的主要原因,约1/3的先天性白内障患者是遗传所致.先天性白内障的病因不同,且表型多样.先天性白内障与特定的基因突变有关,其致病基因主要包括编码晶状体的结构蛋白、缝隙连接蛋白、膜蛋白、晶状体发育中的调节蛋白基因.定位和识别导致白内障形成的基因突变对了解先天性白内障的分子缺陷和病理生理的特点是必要的.随着分子遗传学技术的发展,先天性白内障发病的分子机制研究已取得了较大的进展,进一步了解遗传、环境及营养等因素对晶状体代谢的影响.就先天性白内障的致病基因及其分子发病机制的研究进展进行综述.

  4. Cataract extraction after brachytherapy for malignant melanoma of the choroid

    Energy Technology Data Exchange (ETDEWEB)

    Fish, G.E.; Jost, B.F.; Snyder, W.I.; Fuller, D.G.; Birch, D.G. (Texas Retina Associates, Dallas (USA))

    1991-05-01

    Thirteen eyes of 55 consecutive patients treated with brachytherapy for malignant melanoma of the choroid developed postirradiation cataracts. Cataract development was more common in older patients and in patients with larger and more anterior tumors. Eleven eyes had extracapsular cataract extraction and intraocular lens implantation. Initial visual improvement occurred in 91% of eyes, with an average improvement of 5.5 lines. Visual acuity was maintained at 20/60 or better in 55% of the eyes over an average period of follow-up of 24 months (range, 6 to 40 months). These data suggest that, visually, cataract extraction can be helpful in selected patients who develop a cataract after brachytherapy for malignant melanoma of the choroid.

  5. Surgical options for correction of refractive error following cataract surgery.

    Science.gov (United States)

    Abdelghany, Ahmed A; Alio, Jorge L

    2014-01-01

    Refractive errors are frequently found following cataract surgery and refractive lens exchange. Accurate biometric analysis, selection and calculation of the adequate intraocular lens (IOL) and modern techniques for cataract surgery all contribute to achieving the goal of cataract surgery as a refractive procedure with no refractive error. However, in spite of all these advances, residual refractive error still occasionally occurs after cataract surgery and laser in situ keratomileusis (LASIK) can be considered the most accurate method for its correction. Lens-based procedures, such as IOL exchange or piggyback lens implantation are also possible alternatives especially in cases with extreme ametropia, corneal abnormalities, or in situations where excimer laser is unavailable. In our review, we have found that piggyback IOL is safer and more accurate than IOL exchange. Our aim is to provide a review of the recent literature regarding target refraction and residual refractive error in cataract surgery.

  6. Effect of coffee (caffeine against human cataract blindness

    Directory of Open Access Journals (Sweden)

    Varma SD

    2016-01-01

    Full Text Available Shambhu D VarmaDepartment of Ophthalmology and Visual Sciences, Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD, USAAbstract: Previous biochemical and morphological studies with animal experiments have demonstrated that caffeine given topically or orally to certain experimental animal models has significant inhibitory effect on cataract formation. The present studies were undertaken to examine if there is a correlation between coffee drinking and incidence of cataract blindness in human beings. That has been found to be the case. Incidence of cataract blindness was found to be significantly lower in groups consuming higher amounts of coffee in comparison to the groups with lower coffee intake. Mechanistically, the caffeine effect could be multifactorial, involving its antioxidant as well as its bioenergetic effects on the lens.Keywords: caffeine, cataract, cataract blindness, cataractogenic process, intraocular pressure, vision impairment

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

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    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.

  8. 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.

  9. [Clinical practice of hereditary motor neuropathy (HMN) and hereditary sensory and autonomic neuropathy (HSAN)].

    Science.gov (United States)

    Takashima, Hiroshi

    2014-01-01

    Inherited neuropathy is a genetically and clinically heterogeneous group of neuropathies, the main category becomes Charcot-Marie-Tooth neuropathy (CMT), also known as hereditary motor and sensory neuropathy (HMSN), distal hereditary motor neuropathy (dHMN), and hereditary sensory autonomic neuropathy (HSAN). At least 80 genes have been associated with CMT, HMN or HSAN, a precise molecular diagnosis is often needed to make a clinical diagnosis accurately, enable genetic counseling of the patient and understanding of their molecular mechanisms. To identify the mutation in each patient, using a high-throughput NGS, we established a diagnostic procedure involving screening of disease causing genes in CMT, HMN or HSAN.

  10. [Hereditary optic neuropathies: clinical and molecular genetic characteristics].

    Science.gov (United States)

    Khanakova, N A; Sheremet, N L; Loginova, A N; Chukhrova, A L; Poliakov, A V

    2013-01-01

    The article presents a review of literature on hereditary optic neuropathies: Leber mitochondrial hereditary optic neuropathy, autosomal dominant and autosomal recessive optic neuropathies, X-linked optic atrophy. Clinical and molecular genetic characteristics are covered. Isolated optic neuropathies, as well as hereditary optic disorders, being a part of a complex syndromic disease are described.

  11. Are entry criteria for cataract surgery justified?

    Directory of Open Access Journals (Sweden)

    Daniel Böhringer

    Full Text Available PURPOSE: The German Ophthalmological Society (GOS recently proposed surgical entry criteria, i.e. 300 cataract surgeries. We herein correlate the surgical hands-on experience with the risk of posterior capsule ruptures in order to assess whether this number is appropriate. METHODS: We identified all cataract operations that had been performed at the University Eye Hospital Freiburg since 1995. For each surgeon, we assigned a running number to his/her procedures in the order they had been performed. Thereafter, we excluded all combined procedures and the second eyes. We then selected the 5475 surgical reports between November 2008 and November 2012 for detailed review. We additionally classified each surgery into low- vs. high- à priori risk for posterior capsule ruptures. We fitted a multifactorial logistic regression model to assess the GOS recommendation of 300 surgeries under supervision. In the low-risk group, we additionally visualized the 'typical' learning curve by plotting the posterior capsule ruptures against the respective rank numbers. RESULTS: The odds ratio for posterior capsule ruptures of 'learning-mode' (one of the respective surgeon's 300 first procedures vs. the non-learning-mode was 3.8 (p<0.0001. By contrast, classification into the low-risk group lowered the risk of posterior capsule ruptures three fold (p<0.0001. According to the low-risk plot, the surgeons started with a complication rate of 4% and continuously improved towards 0.5% after 1500 operations. Thereafter, the rate increased again and stabilized around one percent. CONCLUSION: The learning curve with respect to posterior capsule ruptures is surprisingly flat. The GOS entry criterion of 300 cataract procedures is therefore most likely justified. Careful selection of low-risk patients for the training surgeons may help in reducing the rate of posterior capsule ruptures during training.

  12. VISUAL OUTCOME FOLLOWING SURGERY OF TRAUMATIC CATARACT

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    Prasad Rao

    2015-04-01

    Full Text Available AIM: To assess the visual outcome following traumatic cataract surgery and to assess the predictors of better visual outcome STUDY SETUP AND DESIGN: This is a prospective case study made on consecutive series of patients with traumatic cataract who underwent surgery between November 2012 to July 2013 at Government Regional eye hospital, Andhra medical college, Visakhapatnam . METHODS: Study was made on 100 eyes of 100 patients. Patient’s detailed history, clinical features, pre - operative examination, surgical intervention, post - operative visual acuity and follow up refraction changes record. RESULTS: In total , 100 eyes of 100 patients were included . Out of 100 cases, 78 cases (78% were males and 22 cases (22% were females. Good visual acuity of 6/6 – 6/18 was achieved by 70 cases, (70% out of which 58 cases (58% are closed globe type and 12 cases ( 12% are open globe type. 4 cases ( 4% achieved visual acuity of 6/24 to 6/609 . ( 1 26 cases ( 26% achieved a poor visual outcome of < 6/60 out of which 22 cases (22% are open globe type and 4 cases 4% are closed globe type . ( 2 CONCLUSIONS: Closed globe injury has a favorable prognosis for a satisfactory better that 6/18 visual recovery after surgical management of traumatic cataract , compared to open globe type. In case of open globe injury . (3 prompt wound repair , proper use of drugs to reduce infection , inflammation followed by timely surgery may improve the visual prognosis if there is no other sight threatening injury.

  13. Cataract and progressing keratoconus — solution?

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    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.

  14. Outcomes of Cataract Surgery in Vitrectomized Eyes

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    Nilüfer Koçak

    2013-01-01

    Full Text Available Pur po se: To evaluate the intraoperative complications and postoperative visual outcomes of phacoemulsification surgery for the secondary cataract in vitrectomized eyes. Ma te ri al and Met hod: We retrospectively evaluated 51 previously vitrectomized eyes of 51 patients who had undergone phacoemulsification and intraocular lens (PHACO+IOL implantation surgery. PHACO+IOL surgery was performed in our clinic between October 2008 and May 2011. Intraoperative complications and postoperative best-corrected visual acuity (BCVA outcomes were analyzed. Re sults: In this study, 31 out of 51 eyes had posterior subcapsular cataract. Cataract surgery was performed after a mean of 21.39±26.4 (6- 120, median 10.75 months following PPV. Mean preoperative and postoperative BCVA was measured to be 1.52±0.88 logMAR and 0.74±0.73 logMAR, respectively. In 25 eyes which had been filled with silicon oil, mean BCVA was 1.95±0.91 logMAR preoperatively and 1.15±0.84 logMAR postoperatively. In 18 (35.3% eyes which had been filled with sulfur hexafluoride tamponade, mean BCVA was 1.17±0.47 logMAR preoperatively and 0.38±3.6 logMAR postoperatively. Peroperative zonular dialysis with instable deep anterior chamber occurred in two eyes, and posterior capsular tear occurred in one eye. Four eyes had Nd:YAG capsulotomy due to the posterior capsular opacity during the follow-up period. Dis cus si on: Despite the well-known difficulties encountered in vitrectomized eyes such as zonular weakness, increased mobility of the lens-iris diaphragm, posterior capsular instability and posterior capsular plaques, phacoemulsification in vitrectomized eyes proved to be a safe surgery, and increase in visual acuity can be achieved. (Turk J Ophthalmol 2013; 43: 23-6

  15. Liquefied after cataract and its surgical treatment

    Science.gov (United States)

    Bhattacharjee, Harsha; Bhattacharjee, Kasturi; Bhattacharjee, Pankaj; Das, Dipankar; Gogoi, Krishna; Arati, Diyali

    2014-01-01

    Aims: To describe liquefied after cataract (LAC) and its surgical management following an uneventful phacoemulsification with posterior chamber in-the-bag intraocular lens (IOL) implantation and continuous curvilinear capsulorrhexis (CCC). Design: Interventional case series. Materials and Methods: Eleven patients with LAC, following uneventful phacoemulsification with CCC and in-the-bag IOL implantation were enrolled. After the basic slit lamp examination, each case was investigated with Scheimpflug photography and ultrasound biomicroscopy (UBM). Each case was treated with capsular lavage. Biochemical composition of the milky fluid was evaluated and ring of anterior capsular opacity (ACO) was examined under electron microscope. Results: All 11 cases presented with blurring of vision after 6-8 years of cataract surgery with IOL implantation. All cases had IOL microvacuoles, 360° anterior capsule, and anterior IOL surface touch along with ACO, ring of Soemmering, and posterior capsule distension filled with opalescent milky fluid with whitish floppy or crystalline deposits. Biochemically, the milky fluid contained protein (800 mg/dl), albumin (100 mg/dl), sugar (105 mg/dl), and calcium (0.13%) and was bacteriologically sterile. Histologically, the dissected ACO showed fibrous tissue. All cases were successfully treated with capsular lavage with good visual recovery and with no complication. There was no recurrence of LAC during 2 years postoperative follow-up in any of the cases. Conclusions: LAC is a late complication of standard cataract surgery. It may be a spectrum of capsular bag distension syndrome (CBDS) without shallow anterior chamber and secondary glaucoma. Capsular bag lavage is a simple and effective treatment for LAC and a safe alternative to neodymium-doped yttrium aluminum garnet (Nd-YAG) capsulotomy. PMID:24881605

  16. Long-term visual outcome of dense bilateral congenital cataract

    Institute of Scientific and Technical Information of China (English)

    YE He-hua; DENG Da-ming; QIAN Yi-yong; LIN Zhi; CHEN Wei-rong

    2007-01-01

    Background Dense congenital cataracts often cause severe visual impairment. The results of long-term follow-up of dense bilateral congenital cataract in China have not been well documented. The purpose of this study was to evaluate the long-term visual function in children who underwent cataract extraction for dense bilateral congenital cataract in southern part of China.Methods Medical records of children who underwent surgery of dense bilateral congenital cataract between January 1992 and December 2000 at Zhongshan Ophthalmic Center of Sun Yat-sen University were retroactively reviewed. In 38 children available for current follow-up, best corrected visual acuity (BCVA) and stereoscopic vision, as well as nystagmus, strabismus, and other complications, were evaluated. The mean follow-up period was 107.6 months (range 60 to 167 months).Results The mean age of cataract extraction and secondary intraocular lens implantation were 5.6 months (range 3 to 12 months) and 4.2 years (range 2.4 to 15 years), respectively. The mean BCVA was 0.25 in the better eye and 0.16 in the fellow eye. Stereoscopic vision was absent in all patients, and 3 children had simultaneous perception. Nystagmus was detected in all cases and strabismus in 35 cases. A high correlation was found between timing of cataract extraction and final BCVA of the better eye (r=-0.55, P=0.00). A statistically significant difference was found in BCVA between postand pre-treatment of amblyopia (t=5.65, P=0.00).Conclusions Long-term visual function in children with dense bilateral congenital cataract was poor when cataract surgery was performed at age of 3 months or later. Earlier cataract surgery with adequate optical rehabilitation contributed to better visual outcome.

  17. Impact of cataract surgery in reducing visual impairment: A review

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    Rajiv Khandekar

    2015-01-01

    Full Text Available Purpose: The aim was to assess the impact of cataract surgeries in reducing visual disabilities and factors influencing it at three institutes of India. Materials and Methods: 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 (<3/60; severe visual impairment (SVI (<6/60-3/60; moderate 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. Results: 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 < 3/60 and 75,393 (69.7% had SVI in the fellow eye. Blindness at presentation for cataract surgery was associated to, male patients, Institution 3 (Dristi Netralaya, Dahod surgeries after 2009, cataract surgeries without Intra ocular lens implant implantation, and patients paying <25 US $ for surgery. Predictors of SVI at time of cataract surgery were, male, Institution 3 (OM, phaco surgeries, those opting to pay 250 US $ for cataract surgeries. Conclusion: Patients with cataract seek eye care in late stages of 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.

  18. Extramedullary paraspinal hematopoiesis in hereditary spherocytosis

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    Gogia P

    2008-01-01

    Full Text Available Hereditary spherocytosis (HS is a common inherited hemolytic anemia due to red cell membrane defects. Extramedullary hematopoiesis is a compensatory response to insufficient bone marrow blood cell production. The preferred sites of extramedullary hematopoietic involvement are the spleen, liver and lymph nodes; but in HS, the posterior paravertebral mediastinum is also commonly involved. We report a case of a 50-year-old male who presented to us in respiratory distress and with bilateral paravertebral posterior mediastinal masses, which on trucut biopsy were found to be extra-hematopoietic masses; and the patient was found to have hereditary spherocytosis.

  19. Disease expression in women with hereditary angioedema

    DEFF Research Database (Denmark)

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

    2008-01-01

    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......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...

  20. Hereditary angioedema with normal C1 inhibitor.

    Science.gov (United States)

    Bork, Konrad

    2013-11-01

    Until recently it was assumed that hereditary angioedema was a disease that results exclusively from a genetic deficiency of the C1 inhibitor. In 2000, families with hereditary angioedema, normal C1 inhibitor activity, and protein in plasma were described. Since then, numerous patients and families with that condition have been reported. Most of the patients were women. In many of the affected women, oral contraceptives, hormone replacement therapy containing estrogens, and pregnancies triggered the clinical symptoms. In some families mutations in the coagulation factor XII (Hageman factor) gene were detected.

  1. 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.

  2. Albright hereditary osteodystrophy: A rare case report

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    Goswami M

    2009-09-01

    Full Text Available Albright hereditary osteodystrophy (AHO is a rare hereditary metabolic disorder that may be associated with or without resistant to parathyroid hormone (pseudohypoparathyroidism. It is commonly characterized by a constellation of physical features of short stature, round face, short neck, and small metacarpals and metatarsals, mild mental retardation, osteoporosis, subcutaneous calcification, and sometimes olfactory and hearing functional defect. Hypocalcaemia and hyperphosphatemia are the most important manifestations of the case. We report a clinical case of siblings with AHO with reduced Gs-alpha activity and we discuss their clinical features with oral manifestations, radiographic findings, laboratory tests along with treatment.

  3. Sunflower cataract: do not forget Wilson's disease.

    Science.gov (United States)

    Litwin, Tomasz; Langwińska-Wośko, Ewa; Dzieżyc, Karolina; Członkowska, Anna

    2015-10-01

    A 41-year-old man with liver cirrhosis of unknown aetiology for 6 years was admitted to our department to confirm the diagnosis of Wilson's disease. He consulted an ophthalmologist who suspected the presence of a sunflower cataract and Kayser-Fleischer ring. At admission, his liver function tests were modestly impaired (Child-Pugh C, 10 pts). Neurological examination was normal, but cognitive functions were mildly impaired. Based on the copper metabolism abnormalities and clinical manifestation, we diagnosed Wilson's disease (Ferenci score, 6 pts) and started treatment with d-penicillamine. Presenting the case we would like to emphasise the significance of the ophthalmological examination in Wilson's disease diagnosis.

  4. Femtosecond laser in refractive and cataract surgeries

    Institute of Scientific and Technical Information of China (English)

    Han-Han; Liu; Ying; Hu; Hong-Ping; Cui

    2015-01-01

    In the past few years, 9 unique laser platforms have been brought to the market. As femtosecond(FS) laserassisted ophthalmic surgery potentially improves patient safety and visual outcomes, this new technology indeed provides ophthalmologists a reliable new option. But this new technology also poses a range of new clinical and financial challenges for surgeons. We provide an overview of the evolution of FS laser technology for use in refractive and cataract surgeries. This review describes the available laser platforms and mainly focuses on discussing the development of ophthalmic surgery technologies.

  5. Corneal Topographic Analysis in Patients with Cataract

    Institute of Scientific and Technical Information of China (English)

    1994-01-01

    We studied the corneal curvature of 161 eyes in 101 patients, aged from 50 to 80 years (mean: 63 years), with senile cataract using the Topographic Modeling System (IMS) preoperatively. The results revealed that mean surface asymmetry index (SAD was 0. 36 and mean surface regularity index (SRI) 0. 79. Simulated keratometry reading (Sim K) was 44. 46 D, and 43. 56 D. Minimun K reading was 42. 60 D. The same patterns of corneal topography in both eyes were 50% in 60 patients who had binocular examination....

  6. Autosomal recessive hereditary auditory neuropathy

    Institute of Scientific and Technical Information of China (English)

    王秋菊; 顾瑞; 曹菊阳

    2003-01-01

    evidence of peripheral neuropathy at the time of this writing. Conclusions: In this study, patients with feature of non- syndromic hereditary auditory neuropathy were identified in three Chinese families.Pedigree analysis indicates autosomal recessive inheritances in the pedigrees. The observed inheritance and clinical audiologic findings are different from those previously described for non-syndromic low-frequency sensorineural hearing loss. This information should facilitate future molecular candidate genes screening for understanding the mechanism of AN.

  7. [Hereditary sensory and motor neuropathy and hereditary sensory and autonomic neuropathies: recent advances].

    Science.gov (United States)

    Stojkovic, T

    2011-12-01

    This review summarizes the recent genetic advances in hereditary sensorimotor neuropathy also called Charcot-Marie-Tooth disease. The different new genes discovered in 2010 and their underlying phenotypes will be presented.

  8. Secondary chondrosarcoma: Malignant transformation of pre-existing hereditary and non-hereditary cartilaginous lesions

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    Susanna C.S. Vlok

    2014-12-01

    Full Text Available Secondary chondrosarcoma is a malignant hyaline cartilage tumour originating from a cartilaginous precursor, either osteochondroma or enchondroma. We contrast two different cases of biopsy-proven secondary chondrosarcomas resulting from benign, pre-existing cartilaginous lesions – our aim is to contrast and compare these two benign conditions consisting of multiple cartilaginous lesions – one hereditary and the other non-hereditary – and emphasise their potential for malignant transformation.

  9. How to prevent endophthalmitis in cataract surgeries?

    Science.gov (United States)

    Kelkar, Aditya; Kelkar, Jai; Amuaku, Winfried; Kelkar, Uday; Shaikh, Aarofil

    2008-01-01

    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.

  10. 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.

  11. Endothelial trauma in the surgery of cataract

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    Đurović Branislav M.

    2004-01-01

    Full Text Available Cataract surgery is most common in human surgery and comprises 80% of eye surgery programs. Owing to sophisticated technologies, it has become a routine surgery with lowered complications rate; hence, the functional outcome is more conditioned by operative trauma. The aim of this study was to demonstrate the significance of specular microscopy in the evaluation of operative trauma during extra-capsular cataract extraction (ECCE and phacoemulsification (P, in a controlled environment. The study included 100 consecutive patients who met the established criteria, and groups were formed according to the type of surgery by the assignment of successive numbers from a random number table. Examination and photographs of the corneal endothelium, as well as pachymetry were performed on Keeler-Konan Poclington Specular Microscope (KSP. The obtained results revealed significant dissimilarity in endothelial cell reduction (9.17% in group E, and 4.72% in group P, which generated statistically significant correlation of pre-operative and post-operative pachymetry in the group E (p=0.0004. On the basis of the results obtained by specular microscopy, it was concluded that under the same conditions phacoemulsification caused reduced operative trauma of the corneal endothelium.

  12. Bilateral Electrical Cataract: A Case Report

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    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

  13. Hereditary spherocytosis: Consequences of delayed diagnosis

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    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.

  14. Gynecologic screening in hereditary nonpolyposis colorectal cancer

    NARCIS (Netherlands)

    Rijcken, FEM; Mourits, MJE; Kleibeuker, JH; Hollema, H; van der Zee, AGJ

    2003-01-01

    Objective. In hereditary nonpolyposis colorectal cancer (HNPCC), women with a mismatch repair (MMR) gene mutation have a cumulative lifetime risk of 25-50% for endometrial cancer and 8-12% for ovarian cancer. Therefore, female members of HNPCC families are offered an annual gynecologic and transvagi

  15. Hereditary periodic fever and reactive amyloidosis.

    NARCIS (Netherlands)

    Hilst, J.C.H. van der; Simon, A.; Drenth, J.P.H.

    2005-01-01

    Hereditary periodic fever syndromes (HPF) are a group of diseases characterised by recurrences of fever and inflammation separated by symptom-free intervals. Familial Mediterranean fever (FMF) is the most frequent entity within this group of disorders which further consists of

  16. Hereditary spherocytosis presenting as indolent leg ulcers

    Directory of Open Access Journals (Sweden)

    Muhammed K

    1997-01-01

    Full Text Available Indolent leg ulcertation, which is the rarest manifestation of hereditary spherocytosis, started at the age of 5 years affecting a 15-year-old boy and his mother is reported. Review of literature showed very few reports from India and abroad. The response to oral folic acid was excellent

  17. [Sudden blindness: consider Leber's hereditary optic neuropathy

    NARCIS (Netherlands)

    Schieving, J.H.; Vries, L.B.A. de; Hol, F.A.; Stroink, H.

    2008-01-01

    In 3 young male patients, aged 10, 19 and 21 years respectively, sequential, severe, painless bilateral visual loss occurred. Ophthalmological examination revealed no other abnormalities and this delayed the diagnosis Leber's hereditary optic neuropathy (LHON). LHON is a mitochondrial genetic diseas

  18. Demyelinating polyneuropathy in Leber hereditary optic neuropathy.

    NARCIS (Netherlands)

    Gilhuis, H.J.; Schelhaas, H.J.; Cruysberg, J.R.M.; Zwarts, M.J.

    2006-01-01

    We report a patient with Leber hereditary optic neuropathy (G11778A mtDNA) and a severe demyelinating neuropathy, for which no other cause except his mitochondrial disorder could be found. The involvement of the peripheral nervous system of patients with LHON, in particular with a 11778 mtDNA, is di

  19. Major and minor form of hereditary hyperekplexia

    NARCIS (Netherlands)

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

    2002-01-01

    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

  20. Clinical management of hereditary colorectal cancer syndromes.

    Science.gov (United States)

    Vasen, Hans F A; Tomlinson, Ian; Castells, Antoni

    2015-02-01

    Hereditary factors are involved in the development of a substantial proportion of all cases of colorectal cancer. Inherited forms of colorectal cancer are usually subdivided into polyposis syndromes characterized by the development of multiple colorectal polyps and nonpolyposis syndromes characterized by the development of few or no polyps. Timely identification of hereditary colorectal cancer syndromes is vital because patient participation in early detection programmes prevents premature death due to cancer. Polyposis syndromes are fairly easy to recognize, but some patients might have characteristics that overlap with other clinically defined syndromes. Comprehensive analysis of the genes known to be associated with polyposis syndromes helps to establish the final diagnosis in these patients. Recognizing Lynch syndrome is more difficult than other polyposis syndromes owing to the absence of pathognomonic features. Most investigators therefore recommend performing systematic molecular analysis of all newly diagnosed colorectal cancer using immunohistochemical methods. The implementation in clinical practice of new high-throughput methods for molecular analysis might further increase the identification of individuals at risk of hereditary colorectal cancer. This Review describes the clinical management of the various hereditary colorectal cancer syndromes and demonstrates the advantage of using a classification based on the underlying gene defects.

  1. Epidemiology of Non-hereditary Angioedema

    DEFF Research Database (Denmark)

    Madsen, Flemming; Attermann, Jorn; Linneberg, Allan

    2012-01-01

    % in the abdominal area, 17% had diarrhoea, 11% had vomiting and 6% fainted during attacks. Non-hereditary angioedema has high lifetime prevalence and becomes chronic in approximately 50% of affected patients. Symptoms in the larynx and throat, as well as non-specific symptoms, such as dizziness and abdominal pain...

  2. Reprogramming development of experimental hereditary hypertension

    NARCIS (Netherlands)

    Koeners, M.P.M.

    2007-01-01

    The aim of the studies described in this thesis was to investigate the development of experimental hereditary hypertension and to persistently ameliorate the development of hypertension due brief interventions during early development (perinatal treatment). We used two different models of experiment

  3. 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.

  4. Meeting the need for childhood cataract surgical services in Madagascar

    Directory of Open Access Journals (Sweden)

    Henry E Nkumbe

    2011-01-01

    Full Text Available Background: Cataract has emerged as the most important cause of blindness in children worldwide, and has been one of the priorities of VISION 2020, the global initiative to eliminate avoidable blindness by 2020. More than 2500 children are estimated to be blind from cataract in Madagascar. The aim of this study was to investigate the burden and causes of pediatric cataract in a busy eye clinic in Madagascar and measure service delivery. Materials and Methods: This was a retrospective case series of all children aged 15 and below, receiving cataract surgery at the busiest eye clinic in Southern Madagascar. Data on all children operated on at the eye clinic between September 1999 and July 2009 were retrieved from theatre logs and patient charts. Results: One hundred and fourteen eyes of 86 children were operated on during the study period, with congenital cataract being the diagnosis in 53.5% of the children. For the catchment area of 5.8 million inhabitants 2.7% of incident cases of non-traumatic pediatric cataracts had surgery, with a mean CCSR per year for the entire catchment area of 1.1/million population. Conclusions: The Southern part of Madagascar is underserved for pediatric cataract surgical services, hence the need for a childhood blindness program.

  5. [Research progress in relative crystallin genes of congenital cataract].

    Science.gov (United States)

    Wang, D D; Yang, H J; Yi, J L

    2016-02-01

    Congenital cataract is the common cause of visual disability in children. Nearly one third of congenital cataract cases may have a related genetic mutation. With the development of molecular genetics, especially gentechnik, more and more genes, such as crystallin genes, membrane protein genes, eytoskeletal protein genes and regulatory protein genes have been confirmed to participate in the process of congenital cataract. Furthermore, crystallin genes account for most of these genes and the crystallin has the highest amount of the whole protein in lens.It has been found that nearly one hundred mutations in crystallin genes are associated with the onset of congenital cataract. Researchers are exploring how these mutations further affect the function of cellular biology and eventually lead to cataract. Although more and more research results gradually reveal the pathogenesis of congenital cataract from the level of gene and protein, the specific pathogenesis is still unclear. The recent progression about inherited congenital cataract related with crysallin genes is summarized in this review.

  6. Cataract Surgical Uptake Among Older Adults in Ghana.

    Science.gov (United States)

    Ackuaku-Dogbe, E M; Yawson, A E; Biritwum, R B

    2015-06-01

    In sub-Saharan Africa, cataract surgical services are highly inadequate and surgical uptake for cataract is low. This paper describes cataract surgical uptake among older adults in Ghana. This work was based on World Health Organization's multi-country Study on global Ageing and adult health (SAGE), conducted in six countries including Ghana. Wave one of SAGE in Ghana was conducted in 2007-2008 as collaboration between WHO and Department of Community Health, University of Ghana Medical School. A nationally representative sample of 5571 older adults (≥50 years) and a small sample of persons 18-49 years were interviewed. Data was obtained on uptake of cataract surgery in older adults and analyzed using descriptive measures and chi square for associations in categorical outcome measures. Overall surgical uptake was 48.9% among older adults and was slightly higher among older men (49.1%) than women (48%). Cataract surgical uptake was relatively higher in the 60-69 years group (55%), urban residents (52.6%) and those living without partners (50%). Educational and income levels of older persons did not affect cataract surgical uptake. Regional differences in cataract surgical uptake existed; was less than 60% in all ten regions (except one), and the two regions with most self-reported cataracts (Ashanti and Greater Accra) had less than 50% uptake. Intensive public education, engagement of community groups and increased access to cataract surgery at health facilities and outreach services need consideration at national/sub-national levels. Further investigations to garner equity in national eye care efforts are recommended.

  7. 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

    Objectives: There are indications that solar ultraviolet radiation (UVR) increases the risk of cataract, but there is only circumstantial evidence that metal welding, an important occupational source of UVR exposure, is a risk factor. The objective of this study is to unravel if metal welding......, information on welding was collected from questionnaires and, for both cohorts, information about cataract diagnosis and operation was gathered from Danish national registers. Using Cox regression analysis, the hazard ratio (HR) for cataract diagnosis and/or operation was calculated in the follow-up period...

  8. Cataract surgery during active methicillin-resistant Staphylococcus aureus infection.

    Science.gov (United States)

    Mansour, Ahmad M; Salti, Haytham I

    2014-01-01

    We present two patients with active, foul-smelling, methicillin-resistant Staphylococcus aureus (MRSA) wounds of the forehead and sternum following craniotomy or open heart surgery. Both had debilitating cataracts and were told by the infectious diseases team that cataract surgery is very risky. Both underwent sequential bilateral phacoemulsification with no sign of infection. Patients with active MRSA wound infections may safely undergo cataract surgery with additional precautions observed intraoperatively (good wound construction) and postoperatively (topical antibiotics and close observation). Banning such surgeries can unnecessarily jeopardize the lifestyles of such patients.

  9. Anterior internal lenticonus accompanied by congenital nuclear cataract

    Institute of Scientific and Technical Information of China (English)

    LIU Zhe; SUN Chuan-bin; YAO Ke

    2011-01-01

    Internal lenticonus is a very rare morphologic abnormality of crystalline lens which has been reported in only several cases in the literature.We herein reported the clinical characteristics and surgical findings of the anterior internal lenticonus accompanied by congenital nuclear cataract.Cataract extraction accompanied with intraocular lens implantation was uneventfully performed,and a good visual outcome was achieved in this case.Viral infection during embryonal and fetal period might account for the formation of the anterior internal lenticonus and congenital nuclear cataract in our case.

  10. Ocular safety limits for 1030nm femtosecond laser cataract surgery

    Science.gov (United States)

    Wang, Jenny; Sramek, Christopher; Paulus, Yannis M.; Lavinsky, Daniel; Schuele, Georg; Anderson, Dan; Dewey, David; Palanker, Daniel V.

    2013-03-01

    Application of femtosecond lasers to cataract surgery has added unprecedented precision and reproducibility but ocular safety limits for the procedure are not well-quantified. We present an analysis of safety during laser cataract surgery considering scanned patterns, reduced blood perfusion, and light scattering on residual bubbles formed during laser cutting. Experimental results for continuous-wave 1030 nm irradiation of the retina in rabbits are used to calibrate damage threshold temperatures and perfusion rate for our computational model of ocular heating. Using conservative estimates for each safety factor, we compute the limits of the laser settings for cataract surgery that optimize procedure speed within the limits of retinal safety.

  11. Adherence to European Society for Cataract and Refractive Surgery recommendations among Italian cataract surgeons: a survey.

    Science.gov (United States)

    Grosso, Andrea; Pertile, Grazia; Marchini, Giorgio; Scarpa, Giuseppe; Ceruti, Piero; Prigione, Guido; Romano, Mario R; Bert, Fabrizio; Gili, Renata; Panico, Claudio; Siliquini, Roberta; Engelbert, Michael

    2016-08-04

    To survey the surgical routines with regards to prophylactic strategies in a sample of Italian hospitals and compare these with European Society for Cataract and Refractive Surgery (ESCRS) guidelines. Six private and 18 public hospitals were included in this clinical-based retrospective study. The overall volume of cataract operations in the 24 centers in 2013 was 43,553. Main outcome measure was incidence of endophthalmitis per 1,000. An incidence of less than 0.13% was considered acceptable. Our study provides the first Italian data on the use of intracameral antibiotics in cataract surgery as recommended by the ESCRS. Thirteen centers (54%) used intracameral cefuroxime at the end of surgery. Of the 13 centers that used cefuroxime, 8 (62%) had an incidence of endophthalmitis less than 0.13%. Of the 7 (29%) centers that did not use intracameral cefuroxime, all had an endophthalmitis rate of greater than 0.13%. This difference was statistically significant (p<0.05). Among the 4 centers not included, 2 used vancomycin in the infusion bottle, 1 a fluoroquinolone, and the last a combination of antibiotics. The majority of surgeons (71%) used preoperative antibiotic eyedrops, but this measure was not shown to be significantly protective. Slightly more than half of the centers surveyed in this study adhered to the recommendations of the ESCRS and routinely employed prophylactic intracameral cefuroxime. An incidence of endophthalmitis greater than 0.13% was encountered significantly more frequently among centers that did not employ intracameral cefuroxime.

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

    Directory of Open Access Journals (Sweden)

    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.

  13. The impact of cataract surgery on vision-related quality of life for bilateral cataract patients in Ho Chi Minh City, Vietnam: a prospective study

    OpenAIRE

    To, Kien Gia; Meuleners, Lynn B; Fraser, Michelle L; Do, Dung Van; Duong, Dat Van; Huynh, Van-Anh Ngoc; To, Quyen Gia; Phi, Tien Duy; Tran, Hoang Huy; Nguyen, Nguyen Do

    2014-01-01

    Background To determine the impact of cataract surgery on vision-related quality of life (VRQOL) and examine the association between objective visual measures and change in VRQOL after surgery among bilateral cataract patients in Ho Chi Minh City, Vietnam. Methods A cohort of older patients with bilateral cataract was assessed one week before and one to three months after first eye or both eye cataract surgery. Visual measures including visual acuity, contrast sensitivity and stereopsis were ...

  14. Visco chop-a new technique for nucleus separation for soft cataracts in femtolaser assisted cataract surgery

    Institute of Scientific and Technical Information of China (English)

    Sri; Ganesh; Sheetal; Brar

    2015-01-01

    <正>INTRODUCTION Femtosecond laser technology,introduced clinically for ophthalmic surgery as a technique for creating lamellar flaps in laser in situ keratomileusis(LASIK),has recently been developed into a tool for cataract surgery.Preliminary experience for femtosecond laser-assisted cataract surgery show appropriate safety and efficacy,and possible advantage over conventional cataract surgery[1-4].The ability of the femtosecond laser to fragment the lens results in the need for less ultrasound energy to be expended inside the eye.Several studies indicate that less effective phacoemulsification time is needed to emulsify the lens

  15. Early acute aseptic iritis after cataract extraction.

    Science.gov (United States)

    Allen, H F; Grove, A S

    1976-01-01

    Severe iritis which occurs within the first five days after cataract extraction may be categorized as (1) bacterial endophthalmitis, (2) toxic iritis, or (3) aseptic iritis. These entities can sometimes be distinguished because of their clinical features. If bacterial endophthalmitis is suspected, anterior chamber paracentesis should be considered and appropriate antibiotic treatment should be initiated. Acute iritis may result from the introduction of toxic agents into the eye, and may follow the use of products sterilized with ethylene oxide. Early acute aseptic iritis probably occurs more often than has previously been recognized. Response to intensive anti-inflammatory treatment is usually prompt and dramatic. The judicious use of cryoextraction and the careful manipulation of intraocular tissues may minimize the incidence and the severity of postoperative inflammation.

  16. INTRACORNEAL AND SCLERAL CYST FOLLOWING CATARACT EXTRACTION

    Directory of Open Access Journals (Sweden)

    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.

  17. Femtosecond laser-assisted cataract surgery: A current review

    Directory of Open Access Journals (Sweden)

    Majid Moshirfar

    2011-01-01

    Full Text Available To evaluate the safety, efficacy, advantages, and limitations of femtosecond laser-assisted cataract surgery through a review of the literature. A PubMed search was conducted using topic-appropriate keywords to screen and select articles. Initial research has shown appropriate safety and efficacy of femtosecond laser-assisted cataract surgery, with improvements in anterior capsulotomy, phacofragmentation, and corneal incision. Limitations of these studies include small sample size and short-term follow-up. Cost-benefit analysis has not yet been addressed. Preliminary data for femtosecond laser-assisted cataract surgery shows appropriate safety and efficacy, and possible advantage over conventional cataract surgery. Questions to eventually be answered include comparisons of long-term postoperative complication rates-including infection and visual outcomes-and analysis of contraindications and financial feasibility.

  18. rapid assessment of cataract surgical coverage in rural zululand

    African Journals Online (AJOL)

    Cataract surgical coverage (CSC) is a population-based index describing the proportion of ... visual acuity assessed by the nursing assistant using a modified Snellen 'E' .... Additional benefits of this procedure are high profile advertising of the ...

  19. Cataract surgery during active methicillin-resistant Staphylococcus aureus infection

    Directory of Open Access Journals (Sweden)

    Mansour AM

    2014-04-01

    Full Text Available Ahmad M Mansour,1,2 Haytham I Salti11Department of Ophthalmology, American University of Beirut, 2Rafic Hariri University Hospital, Beirut, LebanonAbstract: We present two patients with active, foul-smelling, methicillin-resistant ­Staphylococcus aureus (MRSA wounds of the forehead and sternum following craniotomy or open heart surgery. Both had debilitating cataracts and were told by the infectious diseases team that cataract surgery is very risky. Both underwent sequential bilateral phacoemulsification with no sign of infection. Patients with active MRSA wound infections may safely undergo cataract surgery with additional precautions observed intraoperatively (good wound construction and postoperatively (topical antibiotics and close observation. Banning such surgeries can unnecessarily jeopardize the lifestyles of such patients.Keywords: cataract, infection, methicillin-resistant Staphylococcus aureus, phacoe­mulsification

  20. Cataract surgery outcomes in a Tertiary Hospital, Riyadh

    Directory of Open Access Journals (Sweden)

    Bader Al-Qahtani

    2016-01-01

    Conclusion: Cataract removal is a safe and effective surgery which can improve the quality of life. It has some complications that can be minimised with good pre-operative evaluation and post-operative rehabilitation.

  1. Cataract surgical uptake among older adults in Ghana | Ackuaku ...

    African Journals Online (AJOL)

    ... measures and chi square for associations in categorical outcome measures. ... Regional differences in cataract surgical uptake existed; was less than 60% in all ten ... Further investigations to garner equity in national eye care efforts are ...

  2. Automatic Cataract Hardness Classification Ex Vivo by Ultrasound Techniques.

    Science.gov (United States)

    Caixinha, Miguel; Santos, Mário; Santos, Jaime

    2016-04-01

    To demonstrate the feasibility of a new methodology for cataract hardness characterization and automatic classification using ultrasound techniques, different cataract degrees were induced in 210 porcine lenses. A 25-MHz ultrasound transducer was used to obtain acoustical parameters (velocity and attenuation) and backscattering signals. B-Scan and parametric Nakagami images were constructed. Ninety-seven parameters were extracted and subjected to a Principal Component Analysis. Bayes, K-Nearest-Neighbours, Fisher Linear Discriminant and Support Vector Machine (SVM) classifiers were used to automatically classify the different cataract severities. Statistically significant increases with cataract formation were found for velocity, attenuation, mean brightness intensity of the B-Scan images and mean Nakagami m parameter (p hardness characterization and automatic classification.

  3. [Combined laser instrumental extraction of congenital cataracts in children].

    Science.gov (United States)

    Khvatova, A V; Arestova, N N; Egian, E S

    2005-01-01

    The authors have developed a new method for removal of congenital cataract in children, by taking into account its clinical forms, namely, combined laser instrumental extraction including YAG-laser anterior capsular rhexis, followed by removal of lens debris by the aspiration-irrigation technique. A differential technology of YAG-laser anterior capsular rhexis has been developed, by taking into account of age-specific features of the lens and eyes in children. The optimum energy modes and techniques have been defined for different clinical forms of congenital forms of congenital cataracts. An analysis of the outcomes and complications of extraction of congenital cataracts has indicated that the authors' combined laser instrumental extract procedure (75 operations) assures the better quality of anterior capsular excision, improves optical and functional effects, and reduces the frequency of some complications as compared to the routine instrumental procedure (107 operations) (p instrumental extraction is indicated for the treatment of any forms of congenital cataracts in children.

  4. Congenital cataract in a child with pyridoxine-dependent epilepsy.

    Science.gov (United States)

    Yusuf, Imran H; Sandford, Victoria; Hildebrand, Göran Darius

    2013-06-01

    Pyridoxine-dependent epilepsy (PDE) is a cause of neonatal epileptic encephalopathy not previously known to cause ophthalmic disease. We describe the novel observation of a 5-year-old girl with pyridoxine-dependent epilepsy and bilateral cataracts. PDE is the result of mutations in the ALDH7A1 gene encoding antiquitin, an enzyme protective against cellular dehydration and osmotic stress. Accumulating metabolic precursors in PDE have been shown to be cataractogenic in vitro, and experimental pyridoxine deficiency has been associated with lenticular opacities in vivo. The association of ALDH7A1 haploinsufficiency in PDE and congenital cataract may offer insight into the relationship between osmotic stress and fetal cataract development. Bilateral progression of cataracts in this child suggests ongoing metabolic dysregulation within the crystalline lens despite pyridoxine supplementation at doses sufficient to control seizure activity.

  5. Cataract incidence in the cohort of occupationally exposed workers

    Directory of Open Access Journals (Sweden)

    E. V. Bragin

    2016-01-01

    Full Text Available Objective: To assess cataract incidence in the cohort of workers occupationally exposed to prolonged radiation. Material and Methods: Cataract incidence was studied in the cohort of workers of the first Russian nuclear enterprise — the Mayak, who were firstly employed at one of the main facilities (reactors, radiochemical and plutonium production plants in 1948‑1958 and followed up to the end of 2008 (12210 persons. Total of 3100 cataract cases were registered in the study cohort. All cataract cases were reviewed and verified by experts; the study included only confirmed senile cataracts. All workers of the study cohort were exposed to external gamma-rays; mean cumulative dose from external gamma-rays was 0.91±0.01 Gy in males and 0.65±0.01 Gy in females. Statistical analysis provided non-standardized and standardized incidence rates per 100 000 workers. Standardization by sex and age was performed by indirect method using internal reference.Results: 2523 cases of senile cataract were included in the study. Mean age of cataract diagnosis was 62.88±0.26 years in males and 64.88±0.28 years in females. Standardized incidence rates of cataract in females were significantly higher as compared to males and increased with workers age. Comparison between the subcohorts of workers with / without diagnosed cataracts demonstrated that among workers with cataracts the proportions of the following groups of workers were significantly higher: workers employed before 1954; workers employed at reactors; smoking workers; workers with the smoking index exceeding 20 pack*years; workers who consumed alcohol; workers with excessive body weight; workers with glaucoma and arterial hypertension. Moreover the mean cumulative dose from external gamma-rays and / or neutron exposure was significantly higher in the subcohort of workers diagnosed with cataracts than that in the subcohort of workers free of the disease. The highest cataract incidence

  6. Nutraceuticals in prevention of cataract – An evidence based approach

    Directory of Open Access Journals (Sweden)

    Amandeep Kaur

    2017-01-01

    Full Text Available Cataract is a principal cause of blindness in the world and is characterized by clouding of eye’s natural lens. Surgery is the major therapeutic step taken to cure cataract; however, it is having its own limitations and complications such as iris prolapse, raised IOP, infection, cystoid macular edema and posterior capsular opacification (PCO. So world is looking toward more robust and natural ways to prevent cataract. One of the important factors that can play a role in prevention of any and many diseases is diet of the people. The inclusion of certain naturally occurring food and nutraceuticals is coming up as a best alternative for curing cataract because of their presumed safety, potential nutritional and therapeutic effects. Some nutraceuticals can act as an anticataract agent through some or the other molecular mechanism if consumed by normal population deliberately or inadvertently.

  7. Effects of Cataract Surgery on Endothelium in Transplanted Corneal Grafts: Comparison of Extracapsular Cataract Extraction and Phacoemulsification for Complicated Cataract after Penetrating Keratoplasty

    Institute of Scientific and Technical Information of China (English)

    Hong-Wei Zhou; Li-Xin Xie

    2016-01-01

    Background:The endothelium should be carefully evaluated when choosing a surgical technique for cataract removal.Therefore,we aimed to study the effects of different cataract surgery techniques on endothelial cell loss in transplanted comeal grafts.Methods:A total of 54 patients who received complicated cataract surgery in post-penetrating keratoplasty (PKP) eyes at the Shandong Eye Institute between February 2001 and June 2014 were included,and clinical records were reviewed.Baseline demographic details,clinical characteristics,endothelial cell density (ECD),and best-corrected visual acuity (BCVA) were recorded.Wilcoxon rank-sum test and Wilcoxon signed-rank test were used to test the equality of medians.A regression model was constructed to compare the reduced rate of ECD.Results:Of the 54 eyes included in this study,extracapsular cataract extraction (ECCE) was performed in 34 eyes of 33 patients (ECCE group) whereas phacoemulsification was performed in 20 eyes of 20 patients (phacoemulsification group).There was no significant difference in the median age (P =0.081) or preoperative ECD (P =0.585) between the two groups.At 6 months after cataract surgery,ECD in ECCE group was significantly higher than that in phacoemulsification group (P =0.043).In addition,the endothelial cell loss rate in ECCE group was significantly lower than that in phacoemulsification group at 2 months (P =0.018),4 months (P < 0.001),and 6 months (P < 0.001) after cataract surgery.Endothelial cell loss rate after cataract surgery increased over the 6-month study duration in both ECCE group (P < 0.00 l) and phacoemulsification group (P < 0.001),but phacoemulsification resulted in a greater reduction in ECD than that of ECCE in transplanted corneal grafts (P < 0.001).There was no significant difference in postoperative BCVA between the two groups (P =0.065).Conclusion:ECCE is more suitable than phacoemulsification in cataract surgery in complicated cataract after PKP.

  8. EPHA2 Polymorphisms and Age-Related Cataract in India

    Science.gov (United States)

    Sundaresan, Periasamy; Ravindran, Ravilla D.; Vashist, Praveen; Shanker, Ashwini; Nitsch, Dorothea; Talwar, Badrinath; Maraini, Giovanni; Camparini, Monica; Nonyane, Bareng Aletta S.; Smeeth, Liam; Chakravarthy, Usha; Hejtmancik, James F.; Fletcher, Astrid E.

    2012-01-01

    Objective We investigated whether previously reported single nucleotide polymorphisms (SNPs) of EPHA2 in European studies are associated with cataract in India. Methods 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. Results 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. Conclusions 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

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

    Directory of Open Access Journals (Sweden)

    Periasamy Sundaresan

    Full Text Available OBJECTIVE: We investigated whether previously reported single nucleotide polymorphisms (SNPs of EPHA2 in European studies are associated with cataract in India. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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

  10. Cataract prevalence and prevention in Europe: a literature review.

    Science.gov (United States)

    Prokofyeva, Elena; Wegener, Alfred; Zrenner, Eberhart

    2013-08-01

    This literature review is aimed at the evaluation of the potential for cataract prevention in Europe. It was performed using PubMed with Mesh and free-text terms. Studies included were (i) performed on a population of Caucasian origin at an age range of 40-95 years, (ii) cataract was clinically verified, (iii) drug record of prescriptions, their indication, a record of every diagnosis, dosage and quantity of prescribed medicine were available, (iv) sample size >300 and (v) published between 1990 and 2009. The results of 29 articles were reviewed. Former [3.75 (2.26-6.21)] or current smoking [2.34 (1.07-5.15)], diabetes of duration >10 years [2.72 (1.72-4.28)], asthma or chronic bronchitis [2.04 (1.04-3.81)], and cardiovascular disease [1.96 (1.22-3.14)] increased the risk of cataract. Cataract was more common in patients taking chlorpromazine during ≥90 days with a dosage ≥300 mg [8.8 (3.1-25.1)] and corticosteroids >5 years [3.25 (1.39-7.58)] in a daily dose >1600 mg [1.69 (1.17-2.43)]. Intake of a multivitamin/mineral formulation [2.00 (1.35-2.98)] or corticosteroids [2.12 (1.93-2.33)] also increased the risk of cataract. Corticosteroids applied orally [3.25 (1.39-7.58)], parenteral [1.56 (1.34-1.82)] or inhalational [1.58 (1.46-1.71)] lead to cataract more frequently than those applied topically: nasal [1.33 (1.21-1.45)], ear [1.31 (1.19-1.45)] or skin [1.43 (1.36-1.50)]. Outpatient cataract surgery was negatively associated with total cataract surgery costs, and chlorpromazine, corticosteroids and multivitamin/mineral formation increase the risk of posterior subcapsular cataract dependent on dose, treatment application and duration. This review presented a comprehensive overview of specific and general cataract risk factors and an update on most recent experimental studies and randomized control trials directed at cataract prevention. © 2012 The Authors. Acta Ophthalmologica © 2012 Acta Ophthalmologica Scandinavica Foundation.

  11. Posterior Chamber IOL Implantation in Traumatic Cataract with Injured Complications

    Institute of Scientific and Technical Information of China (English)

    1992-01-01

    Twenty-five cases of posterior chamber IOL implantation intraumatic cataract with complications associated with primary injury werereported.The operating methods were described and the post-operative com-plications were discussed.Seventy-two percent of patients have the correctvision over 20/40.It is suggested that the posterior chamber IOL can be im-planted in traumatic cataract with some injured complications.EYE SCIENCE1992;8:111-112.

  12. Bilateral congenital cataracts in an infant with Klinefelter syndrome.

    Science.gov (United States)

    Nur, Banu Güzel; Altıok-Clark, Özden; İlhan, Hatice Deniz; Sayar, Ersin; Yücel, İclal; Mıhçı, Ercan

    2014-01-01

    Congenital cataract is one of the most treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of approximately 2.5:10,000 infants under the age of 1 year. Congenital cataract can be observed with certain chromosomal abnormalities, such as trisomies, deletions, translocations and Turner syndrome. In Klinefelter syndrome, however, ocular complications and cataract are not commonly encountered, so reports in the literature are very rare. In this manuscript, we present a 3-month-old male infant who had congenital cataracts. Chromosomal analysis revealed that his karyotype was 47,XXY. He did not show any of the main clinical signs of Klinefelter syndrome because of his very young age. To the best of our knowledge, our patient is only the second-ever case reported in the literature in which congenital cataracts have been found in an infant with a nonmosaic 47,XXY karyotype. The aim of the present report is to both describe the ocular abnormalities that can sometimes be found in Klinefelter syndrome and to emphasize the importance of performing a karyotype analysis in order to rule out chromosome abnormalities in patients with congenital cataracts.

  13. Ocular manifestations and treatment of congenital cataracts associated with microcornea

    Directory of Open Access Journals (Sweden)

    Yi-Xuan Zhao

    2014-04-01

    Full Text Available AIM: To report the clinical manifestation, curative opportunity and effect of congenital cataracts with microcornea.METHODS: The clinical materials of 18 eyes of 11 patients with microcorneas who underwent surgery for congenital cataracts from January 2000 to December 2012 were retrospectively analyzed. Preoperative examination including corneal diameter(RESULTS: The morphologic types of cataract were family history of congenital cataract(4 casesamong 11 patients. Other preoperative ocular abnormalities included aniridia(6 eyes, nystagmus(18 eyesand primary vitreous artery residues(1 eye. Totally 11 patients(18 eyeshad been performed the following three different types of operation: 1extra capsular extraction of cataract(ECCEwas performed in 5 eyes; 2ECCE for the first step and posterior chamber intraocular lens(PC-IOLfor the second step was performed in 4 eyes; 3ECCE and PC-IOL was performed in 9 eyes. Visual acuity was achieved after surgery, the best-corrected visual acuity(BCVAwas 0.145±0.0958(0.01-0.20. ECCE intraoperative complication was posterior capsule rupture(1 eye. The main postoperative complications were posterior capsular opacification(10 eyesand secondary glaucoma(2 eyes.CONCLUSION: The main complication in congenital cataracts with microcornea including aniridia, choroidal defect and nystagmus. IOL implantation can significantly improve visual acuity. Patients should pay attention to prevention corneal injury, posterior capsular rupture and etc. However, adequate management of postoperative complications, especially posterior capsular opacification and glaucoma is required.

  14. Cate's Story: Hereditary Diffuse Gastric Cancer.

    Science.gov (United States)

    Rogers, Megan

    2016-08-01

    Gastric cancer is a major cause of cancer-related mortality worldwide and is thought to be responsible for about 10% of cancer-related deaths across the globe. A small proportion of all gastric cancers arise because of a known hereditary syndrome, the most common of which is hereditary diffuse gastric cancer (HDGC). This is an autosomal dominant genetic disease characterized by an increased risk of developing diffuse gastric cancer at a young age. The gene responsible for HDGC is CDH1, also known as E-cadherin, a germline mutation conferring an 80% risk of developing gastric cancer during the lifetime of the carrier. Females with germline CDH1 mutations face an additional risk of developing lobular breast cancer, with a reported cumulative risk of 60% by the age of 80 years.
.

  15. Hereditary diffuse gastric cancer--An overview.

    Science.gov (United States)

    Gurzu, Simona; Jung, Ioan; Orlowska, Janina; Sugimura, Haruhiko; Kadar, Zoltan; Turdean, Sabin; Bara, Tivadar

    2015-09-01

    The incidence of gastric cancer varies by up to ten fold throughout the world, and the geographic distribution of hereditary cases is not well explored. Familial clustering is seen in 10% of cases, and approximately 3% of all gastric cancers develop due to hereditary diffuse gastric cancer (HDGC). In this review, the characteristics of HDGC are presented according to molecular particularities, geographic distribution, and other parameters. Based on our experience and the data from the literature, we discuss the possibility of applying a mutation signature (spectrum) study and adductomic approaches to a comparative carcinogenesis of HDGC. We also provide a comprehensive, up-to-date review of genetic counseling and criteria for screening and surveillance of eligible families.

  16. Hereditary angioedema type I: a case report.

    Science.gov (United States)

    Muñoz Peralta, Francisca; Buller Vigueira, Eva; Cabello Pulido, Juana

    2016-01-28

    Hereditary angioedema is a rare disease with great heterogeneity of symptoms such as edema of the skin, gastro-intestinal mucosa and larynx or pharynx. Even though there are three types, the most frequent is type I, which is a result from a deficiency of the complement C1 inhibitor. The severity of its symptoms along with the low prevalence of the disease and the need for appropriate specific treatment make the diagnosis and treatment of the pathology an outstanding subject for the family physician. The present is the case of a male teenager with alpha-1 antitrypsin deficiency since he was six months old, angioedema on arms and legs since 11 years old and diagnosed with hereditary angioedema type I one year after. The definitive diagnosis of the disease enabled an appropriate treatment which consists in preventing outbreaks that may compromise the patient's life and, if they occur, administration of complement C1 inhibitor.

  17. 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...... 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...... relatively decreased regional cerebral blood flow in most of the cerebellum. We conclude that this kindred demonstrates a considerable overlap between cerebellar ataxia and spastic paraplegia, emphasizing the marked clinical heterogeneity of HSP associated with spastin mutations....

  18. The biochemical basis of hereditary fructose intolerance.

    Science.gov (United States)

    Bouteldja, Nadia; Timson, David J

    2010-04-01

    Hereditary fructose intolerance is a rare, but potentially lethal, inherited disorder of fructose metabolism, caused by mutation of the aldolase B gene. Treatment currently relies solely on dietary restriction of problematic sugars. Biochemical study of defective aldolase B enzymes is key to revealing the molecular basis of the disease and providing a stronger basis for improved treatment and diagnosis. Such studies have revealed changes in enzyme activity, stability and oligomerisation. However, linking these changes to disease phenotypes has not always been straightforward. This review gives a general overview of the features of hereditary fructose intolerance, then concentrates on the biochemistry of the AP variant (Ala149Pro variant of aldolase B) and molecular pathological consequences of mutation of the aldolase B gene.

  19. Distal renal tubular acidosis with hereditary spherocytosis.

    Science.gov (United States)

    Sinha, Rajiv; Agarwal, Indira; Bawazir, Waleed M; Bruce, Lesley J

    2013-07-01

    Hereditary spherocytosis (HS) and distal renal tubular acidosis (dRTA), although distinct entities, share the same protein i.e. the anion exchanger1 (AE1) protein. Despite this, their coexistence has been rarely reported. We hereby describe the largest family to date with co-existence of dRTA and HS and discuss the molecular basis for the co-inheritance of these conditions.

  20. Hereditary angioedema:44 years of diagnostic delay

    OpenAIRE

    Peterson, M.P.; Bygum, A

    2016-01-01

    We report a 64-year-old man who suffered from recurrent visible swelling attacks since the age of 20 as well as episodes with severe upper airway edema, resulting in 4 emergency tracheotomies. Eventually after 44 years he was diagnosed with hereditary angioedema (HAE) type II. The aims of this report is to emphasize the importance of awareness concerning HAE, which does not respond to traditional anti-allergic therapy, and remind physicians to test for functional C1-INH deficiency.

  1. Hereditary chin tremor in Parkinson's disease.

    Science.gov (United States)

    Erer, Sevda; Jankovic, Joseph

    2007-11-01

    Hereditary chin tremor (HCT) is characterized by rhythmical, involuntary movements of the chin muscles usually inherited in an autosomal dominant pattern. We describe a 74-year old man with familial, childhood-onset chin tremor, and a 3-year history of progressive hand tremor, gait difficulty, and other parkinsonian features. Since chin tremor often occurs in Parkinson's disease (PD), a coexistent HCT may not be recognized unless past and family history of tremor is carefully explored.

  2. Hereditary Transthyretin Amyloidosis in Eight Chinese Families

    Institute of Scientific and Technical Information of China (English)

    Ling-Chao Meng; He Lyu; Wei Zhang; Jing Liu; Zhao-Xia Wang; Yun Yuan

    2015-01-01

    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 ofmyelinated 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.

  3. Leber hereditary optic neuropathy mimicking neuromyelitis optica.

    Science.gov (United States)

    McClelland, Collin M; Van Stavern, Gregory P; Tselis, Alex C

    2011-09-01

    Leber hereditary optic neuropathy (LHON) is rarely associated with multiple sclerosis-like features. We present a case of a 65-year-old African American woman with LHON masquerading as neuromyelitis optica (NMO). We highlight the features of the clinical examination and MRI that were suggestive of an alternative diagnosis and review the literature regarding LHON and multiple sclerosis. The diagnosis of LHON should be considered in all cases of acute or subacute bilateral optic neuropathy, including presumed seronegative NMO.

  4. 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.

  5. Medical management of hereditary optic neuropathies

    Directory of Open Access Journals (Sweden)

    Chiara eLa Morgia

    2014-07-01

    Full Text Available Hereditary optic neuropathies are diseases of the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e. the maternally inherited Leber’s Hereditary Optic Neuropathy (LHON and Dominant Optic Atrophy (DOA. They both share a mitochondrial pathogenesis that leads to the selective loss of retinal ganglion cells and axons, in particular of the papillo-macular bundle. Typically, LHON is an acute/subacute loss of central vision associated with impairment of color vision and swelling of retinal nerve fibers followed by optic atrophy. DOA, instead, is characterized by a childhood-onset and slowly progressive loss of central vision, worsening over the years, leading to optic atrophy. The diagnostic workup includes neuro-ophthalmologic evaluation and genetic testing of the three most common mitochondrial DNA mutations affecting complex I (11778/ND4, 3460/ND1 and 14484/ND6 for LHON and sequencing of the nuclear gene OPA1 for DOA. Therapeutic strategies are limited including agents that bypass the complex I defect and exert an antioxidant effect (idebenone. Further strategies are aimed at stimulating compensatory mitochondrial biogenesis. Gene therapy is also a promising venue that still needs to be validated.

  6. Medical Management of Hereditary Optic Neuropathies

    Science.gov (United States)

    La Morgia, Chiara; Carbonelli, Michele; Barboni, Piero; Sadun, Alfredo Arrigo; Carelli, Valerio

    2014-01-01

    Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber’s hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA). They both share a mitochondrial pathogenesis that leads to the selective loss of retinal ganglion cells and axons, in particular of the papillo-macular bundle. Typically, LHON is characterized by an acute/subacute loss of central vision associated with impairment of color vision and swelling of retinal nerve fibers followed by optic atrophy. DOA, instead, is characterized by a childhood-onset and slowly progressive loss of central vision, worsening over the years, leading to optic atrophy. The diagnostic workup includes neuro-ophthalmologic evaluation and genetic testing of the three most common mitochondrial DNA mutations affecting complex I (11778/ND4, 3460/ND1, and 14484/ND6) for LHON and sequencing of the nuclear gene OPA1 for DOA. Therapeutic strategies are still limited including agents that bypass the complex I defect and exert an antioxidant effect (idebenone). Further strategies are aimed at stimulating compensatory mitochondrial biogenesis. Gene therapy is also a promising avenue that still needs to be validated. PMID:25132831

  7. Medical management of hereditary optic neuropathies.

    Science.gov (United States)

    La Morgia, Chiara; Carbonelli, Michele; Barboni, Piero; Sadun, Alfredo Arrigo; Carelli, Valerio

    2014-01-01

    Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA). They both share a mitochondrial pathogenesis that leads to the selective loss of retinal ganglion cells and axons, in particular of the papillo-macular bundle. Typically, LHON is characterized by an acute/subacute loss of central vision associated with impairment of color vision and swelling of retinal nerve fibers followed by optic atrophy. DOA, instead, is characterized by a childhood-onset and slowly progressive loss of central vision, worsening over the years, leading to optic atrophy. The diagnostic workup includes neuro-ophthalmologic evaluation and genetic testing of the three most common mitochondrial DNA mutations affecting complex I (11778/ND4, 3460/ND1, and 14484/ND6) for LHON and sequencing of the nuclear gene OPA1 for DOA. Therapeutic strategies are still limited including agents that bypass the complex I defect and exert an antioxidant effect (idebenone). Further strategies are aimed at stimulating compensatory mitochondrial biogenesis. Gene therapy is also a promising avenue that still needs to be validated.

  8. [The role of the immune system in hereditary demyelinating neuropathies].

    Science.gov (United States)

    Mäurer, M; Toyka, K V; Martini, R

    2005-06-01

    Hereditary neuropathies, e.g., Charcot-Marie-Tooth (CMT) disease, are inherited diseases of the peripheral nervous system causing chronic progressive motor and sensory dysfunction. Most neuropathies are due to mutations in myelin genes such as PMP22, P0, and the gap junction protein Cx32. Myelin mutant mice are regarded as suitable animal models for several forms of hereditary neuropathies and are important neurobiological tools for the evaluation of pathogenetic and therapeutic concepts in hereditary neuropathies. Using these animal models we could recently show that the immune system is involved in the pathogenesis of hereditary neuropathies. Due to the phenotypic similarities we also consider the immune system important for human inherited neuropathies, in particular since several case reports demonstrate a beneficial effect of immune therapies in patients with hereditary neuropathies. In this review we compare findings from animal models and human disease to elucidate the role of the immune system in hereditary neuropathies.

  9. Prevalence and causes of visual impairment and blindness, cataract surgical coverage and outcomes of cataract surgery in Libya.

    Science.gov (United States)

    Rabiu, Muhammad Mansur; Jenf, Mansour; Fituri, Suad; Choudhury, Abdulhanan; Agbabiaka, Idris; Mousa, Ahmed

    2013-01-01

    To assess the major causes of avoidable blindness, and outcomes and barriers to cataract services in Libya. A stratified multistage cluster random sample study was conducted in the four regions of Libya. Visual acuity and lens assessment were performed on all subjects. Those with presenting visual acuity Libya needs to improve the quality of cataract surgery across all the regions. The southern region needs improvement in both quality and coverage of services.

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

    OpenAIRE

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

    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 t...

  11. Non responsive celiac disease due to coexisting hereditary fructose intolerance.

    Science.gov (United States)

    Bharadia, Lalit; Shivpuri, Deepak

    2012-04-01

    Celiac disease is associated with several genetic disorders, but its association with hereditary fructose intolerance is rare. Hereditary fructose intolerance is a rare autosomal recessive disease of fructose metabolism presenting as vomiting after intake of fructose. An association between these two distinct genetic gastrointestinal disorders is important as treatment failure of celiac disease calls for careful evaluation for hereditary fructose intolerance. We report a patient with an association of these two disorders.

  12. Investigation of cataract surgery in Leshan, Sichuan Province

    Directory of Open Access Journals (Sweden)

    Yu Han

    2014-08-01

    Full Text Available AIM: To comprehensively investigate the current status of cataract surgery in Leshan city, and find the existing problems according to the survey results as a guide to cataract prevention and treatment in future. METHODS: We surveyed the status of cataract surgery containing equipments, surgeons and surgery conditions in 17 ophthalmology departments of general hospitals from Leshan including 6 counties, 1 county-level city and 4 districts during 2012. Cataract surgery methods, according to various surgery financial resources, surgical performances and surgical incision, were divided into phacoemulsification and intraocular lens implantation(Phaco+IOL, extracapsular cataract extraction and intraocular lens implantation(ECCE+IOL, and each method contained 2 groups. We analyzed the outcomes following preoperative examination, surgeons, surgical methods, surgical equipments, types of IOL, surgical quantity, surgical results, and intraoperative complication. RESULTS: In whole city there were 16 operating microscopes, 43 slit lamp microscopes, 12 non-contact tonometers, 1 intraocular lens Master, 8 optical A/B type ultrasonic examination systems, 4 YAG lasers and 12 phacoemulsification instruments. There 15 doctors could complete cataract surgery independently, and 5 of them were phacoemulsification surgeons. The total number of completed cataract surgeries reached 6 211 eyes, containing 3 564 eyes for Phaco+IOL(57%(preoperative visual acuity ≥0.3 in Phaco+IOL1 were 1 520 eyes, 24%and 2 647 eyes for ECCE+IOL(43%(1 533 eyes in ECCE+IOL1, 25%. In various groups, off-blindness rate was 94.80%-100%, off-disability rate was 90.41%-100%, and 94.96%-100% received intraocular lens implantation, intraoperative complication rate was 1.00%-15.10%. CONCLUSION: The distribution of surgeons and equipments in the whole city is unbalanced, and the utilization rate of phaco equipment is low. The levels are different in various hospitals on surgical technique

  13. Inhibiting Plasma Kallikrein for Hereditary Angioedema Prophylaxis.

    Science.gov (United States)

    Banerji, Aleena; Busse, Paula; Shennak, Mustafa; Lumry, William; Davis-Lorton, Mark; Wedner, Henry J; Jacobs, Joshua; Baker, James; Bernstein, Jonathan A; Lockey, Richard; Li, H Henry; Craig, Timothy; Cicardi, Marco; Riedl, Marc; Al-Ghazawi, Ahmad; Soo, Carolyn; Iarrobino, Ryan; Sexton, Daniel J; TenHoor, Christopher; Kenniston, Jon A; Faucette, Ryan; Still, J Gordon; Kushner, Harvey; Mensah, Robert; Stevens, Chris; Biedenkapp, Joseph C; Chyung, Yung; Adelman, Burt

    2017-02-23

    Background Hereditary angioedema with C1 inhibitor deficiency is characterized by recurrent, unpredictable swelling episodes caused by uncontrolled plasma kallikrein generation and excessive bradykinin release resulting from cleavage of high-molecular-weight kininogen. Lanadelumab (DX-2930) is a new kallikrein inhibitor with the potential for prophylactic treatment of hereditary angioedema with C1 inhibitor deficiency. Methods We conducted a phase 1b, multicenter, double-blind, placebo-controlled, multiple-ascending-dose trial. Patients with hereditary angioedema with C1 inhibitor deficiency were randomly assigned in a 2:1 ratio to receive either lanadelumab (24 patients) or placebo (13 patients), in two administrations 14 days apart. Patients assigned to lanadelumab were enrolled in sequential dose groups: total dose of 30 mg (4 patients), 100 mg (4 patients), 300 mg (5 patients), or 400 mg (11 patients). The pharmacodynamic profile of lanadelumab was assessed by measurement of plasma levels of cleaved high-molecular-weight kininogen, and efficacy was assessed by the rate of attacks of angioedema during a prespecified period (day 8 to day 50) in the 300-mg and 400-mg groups as compared with the placebo group. Results No discontinuations occurred because of adverse events, serious adverse events, or deaths in patients who received lanadelumab. The most common adverse events that emerged during treatment were attacks of angioedema, injection-site pain, and headache. Dose-proportional increases in serum concentrations of lanadelumab were observed; the mean elimination half-life was approximately 2 weeks. Lanadelumab at a dose of 300 mg or 400 mg reduced cleavage of high-molecular-weight kininogen in plasma from patients with hereditary angioedema with C1 inhibitor deficiency to levels approaching that from patients without the disorder. From day 8 to day 50, the 300-mg and 400-mg groups had 100% and 88% fewer attacks, respectively, than the placebo group. All

  14. Evolution of cataract surgery: Smaller incision - less complications

    Directory of Open Access Journals (Sweden)

    Draganić Vladimir

    2012-01-01

    Full Text Available Background/Aim. Cataract surgery has become one of the safest procedures in medicine thanks to advances in technology and surgical techniques. Although minimal, we still witness different complications. The aim of this study was to compare visual outcome and complication rate in different techniques of cataract surgery, ie in cataract surgeries with various corneal incision width. Methods. The study included 3,457 consecutive patients, ie 4,670 eyes that had undergone cataract surgery. The used surgical techniques were: extracapsular cataract extraction, phacoemulsification/ forceps IOL implantation, phacoemulsification/ injector IOL implantation, microincision cataract surgery (MICS. Patient follow up was 6 months. Patients were evaluated for: visual aquity, corneal astigmatism, cellular reaction in the anterior chamber, IOL position. Results. Uncorrected visual aquity 30 days postoperatively was ≥ 0.5 in 30% of the eyes - ECCE; 54.7% of the eyes - phacoemulsification/forceps IOL implantation; 63.0% of the eyes - phacoemulsification/injector IOL implantation; 5/8 of the eyes - MICS. Endophthalmitis was detected in 0.15% of the eyes - ECCE and 0.1% of the eyes - phacoemulsification/forceps IOL implantation. In eyes with phacoemulsification/injector IOL implantation or microincision cataract surgery (MICS there were no cases of endophthalmitis. After a 6-month period intraocular lens were dislocated in 7.2% of the eyes - ECCE, and 0.6% of the eyes - phacoemulsification/PMMA IOL. There was no IOL dislocation in other surgical techniques. Conclusion. Shorter corneal incision implies less complications, less operative trauma, faster visual rehabilitation and better visual outcome.

  15. [Evolution of cataract surgery: smaller incision--less complications].

    Science.gov (United States)

    Draganić, Vladimir; Vukosavljević, Miroslav; Milivojević, Milorad; Resan, Mirko; Petrović, Nenad

    2012-05-01

    Cataract surgery has become one of the safest procedures in medicine thanks to advances in technology and surgical techniques. Although minimal, we still witness different complications. The aim of this study was to compare visual outcome and complication rate in different techniques of cataract surgery, ie in cataract surgeries with various corneal incision width. The study included 3,457 consecutive patients, ie 4,670 eyes that had undergone cataract surgery. The used surgical techniques were: extracapsular cataract extraction, phacoemulsification/forceps IOL implantation, phacoemulsification/injector IOL implantation, microincision cataract surgery (MICS). Patient follow up was 6 months. Patients were evaluated for: visual aquity, corneal astigmatism, cellular reaction in the anterior chamber, IOL position. Uncorrected visual aquity 30 days postoperatively was > or = 0.5 in 30% of the eyes - ECCE; 54.7% of the eyes - phacoemulsification/forceps IOL implantation; 63.0% of the eyes - phacoemulsification/injector IOL implantation; 5/8 of the eyes - MICS. Endophthalmitis was detected in 0.15% of the eyes - ECCE and 0.1% of the eyes - phacoemulsification/forceps IOL implantation. In eyes with phacoemulsification/injector IOL implantation or microincision cataract surgery (MICS) there were no cases of endophthalmitis. After a 6-month period intraocular lens were dislocated in 7.2% of the eyes - ECCE, and 0.6% of the eyes - phacoemulsification/PMMA IOL. There was no IOL dislocation in other surgical techniques. Shorter corneal incision implies less complications, less operative trauma, faster visual rehabilitation and better visual outcome.

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

    African Journals Online (AJOL)

    2014-11-03

    Nov 3, 2014 ... Background: Cataract remains a leading cause of blindness worldwide. Despite the .... Enugu, the UNTH's management reduced the all‑inclusive fee for cataract .... health education, socioeconomic reorientation, grass‑root.

  17. Stationary radiation cataracts: an animal model

    Energy Technology Data Exchange (ETDEWEB)

    Holsclaw, D.S.; Merriam, G.R. Jr; Medvedovsky, C.; Worgul, B.V. (Columbia Univ., New York, NY (USA)); Rothstein, H. (Fordham Univ., New York, NY (USA))

    1989-03-01

    This report describes the induction of stationary radiation cataracts in postmetamorphic bullfrogs following ocular irradiation with a 10 Gy dose of X-rays. The eyes of non-irradiated animals and animals irradiated with 25 Gy served as controls. The 25 Gy irradiated lenses rapidly progressed to complete opacification (4+) by 26 weeks, while lenses exposed to 10 Gy advanced to the 2.5+ stage by 35 weeks and progressed no further. In the lower dose lenses, transparent cortex began to appear anteriorly and posteriorly between the capsule and opaque fibers at 45 weeks. As the clear fibers accumulated, the disrupted region came to occupy increasingly deeper cortex. Histologically, opacities in both groups were preceded by disorganization of the bow cytoarchitecture, meridional row disorganization, and the appearance in the lens epithelium of nuclear polymorphism, fragmented nuclei, micronuclei, clusters of nuclei, and abnormal mitotic figures. In the lenses exposed to the 25 Gy dose, this damage continued to worsen, so that the 4+ stage was characterized by extensive epithelial cell death, absence of the lens bow, degenerated fiber masses, and liquefied substrata. In contrast, prior to the appearance of transparent cortex in the 10 Gy group, the lens epithelial aberrations, arc of the bow, and meridional row disorganization were all observed to improve. Further, by 69 weeks, the lens epithelium appeared as a largely homogeneous population, and the meridional rows and the arc of the bow had become reestablished. (author).

  18. Cataract surgery in previously vitrectomized eyes.

    Science.gov (United States)

    Akinci, A; Batman, C; Zilelioglu, O

    2008-05-01

    To evaluate the results of extracapsular cataract extraction (ECCE) and phacoemulsification (PHACO) performed in previously vitrectomized eyes. In this retrospective study, 56 vitrectomized eyes that had ECCE and 60 vitrectomized eyes that had PHACO were included in the study group while 65 eyes that had PHACO in the control group. The evaluated parameters were the incidence of intra-operative and postoperative complications (IPC) and visual outcomes. Chi-squared, independent samples and paired samples tests were used for comparing the results. Deep anterior chamber (AC) was significantly more common in the PHACO group of vitrectomized eyes (PGVE) and observed in eyes that had undergone extensive vitreous removal (p ECCE group and the PGVE (p > 0.05). Some of the intra-operative conditions such as posterior synechiae, primary posterior capsular opacification (PCO) and postoperative complications such as retinal detachment (RD), PCO were significantly more common in vitrectomized eyes than the controls (p ECCE group and the PGVE (p > 0.05). Deep AC is more common in eyes with extensive vitreous removal during PHACO than ECCE. Decreasing the bottle height is advised in this case. Except for this, the results of ECCE and PHACO are similar in previously vitrectomized eyes. Posterior synechiaes, primary and postoperative PCO and RD are more common in vitrectomized eyes than the controls.

  19. CORTICAL CLEANUP WITHOUT SIDE PORT IN SMALL INCISION CATARACT SURGERY

    Directory of Open Access Journals (Sweden)

    Udaya Kumar

    2015-11-01

    Full Text Available The aim of study was to achieve complete cortical cleanup and avoid problems related with sideport during Small Incision Cataract Surgery (SICS so as to have a good visual out come with minimal recovery period, and a better quality of life. After nucleus delivery, cortical cleanup is an important step in any cataract surgical procedure. Cortex especially subincisional area (11 to 1 o’clock is difficult to manage intraoperatively. Bimanual irrigation aspiration through two side ports, aspiration by J cannula, iris massage manoeuver, ice cream scoop manoeuver are various techniques of cortical matter aspiration. We acquired the technique of aspiration of subincisional cortex without using side port in all cases by paying attention on type of cataract, status of pupil, use of Adrenalin mixed BSS intraoperatively, Tunnel construction, Capsulorhexis size and capsular rim size at 12 o’clock. MATERIAL AND METHODS In this retrospective study of 1 year from 2013 to 2014, 60 patients (60 eyes aged 40 years or older attending the General Ophthalmic Department were included in the study group with another group of 60 patients (60 eyes as controls. The study was on age related cataracts which are basically. 1 Cortical cataract 2 Nuclear cataract 3 Subcapsular cataract. Proper assessment of cortical cataract based on its maturity such as a Immature b Mature c Hyper mature and d Morgagnian cataract, nucleus for its opalescence and color, size of posterior subcapsular opacity and pupillary status (Dilating well or not with mydriatics were taken into consideration. Eyes with pseudoexfoliation having poor pupillary dilation were also included. Eyes with congenital anomalies, congenital cataract, gross corneal and retinal pathologies, and glaucoma were excluded. RESULTS Among 60 study eyes in the study group 35 presented with cortical, 20 with nuclear cataract and 5 with posterior subcapsular cataracts. In 58(96.6% cases, sideport was not required; 3(5% eyes

  20. Visual outcome of conventional extracapsular cataract extraction with posterior chamber intraocular lens implantation versus manual small-incision cataract surgery.

    Science.gov (United States)

    Gurung, A; Karki, D B; Shrestha, S; Rijal, A P

    2009-01-01

    an effective method for cataract surgery should be identified to combat cataract blindness. to study the surgical outcome of conventional extracapsular cataract extraction versus manual small-incision cataract surgery. a randomized clinical trial was carried out including one hundred eyes (88 patients) which were divided into two groups using systematic randomization: groups of conventional extracapsular cataract extractionwith posterior chamber intraocular lens (ECCE with PCIOL) implantation and manual small-incision cataract surgery (MSICS). The postoperative parameters/variables studied were the unaided and best-corrected visual acuity and astigmatism. epi info 2000 version statistical software was used for data analysis and calculation of relative risk, 95% CI and p value. The p value of less than 0.05 was considered as significant. in the immediate postoperative period, unaided visual acuity of =or> 6/18 was achieved in 24 subjects in MSICS group versus 7 in ECCE with PCIOL group (RR=2.05, 95% CI= 1.44 - 2.94, p = 0.0002), whereas the same at 6 - 8 weeks postoperatively was found in 28 and 22 subjects in those groups respectively (RR=1l.27, 95% CI=0.86-1.89, p=0.23). The astigmatism of =or> 2 at6 - 8 weeks was found in 35 and 17 subjects from the conventional and MSICS groups respectively ( R=2.28, 95% CI= 1.39-3.73, p=0.0002). both MSICS and conventional ECCE with PCIOL are safe and effective techniques for treatment of cataract patients. A more rapid recovery of good vision can be achieved with MSICS than with conventional ECCE with PCIOL in the immediate postoperative period.

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

    Directory of Open Access Journals (Sweden)

    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.

  2. Application of manual small incision cataract surgery in age-related cataract

    Directory of Open Access Journals (Sweden)

    Bi-Hua Xie

    2015-08-01

    Full Text Available AIM: To research the practicability of manual small incision cataract surgery(MSICS.METHODS: Three hundred and six eyes age-related cataract were taken MSICS and 306 eyes received phacoemulsification(Phaco group. Visual acuity, the refractive and the loss ratio of cornea endothelia cells were observed and compared after surgery. RESULTS: Uncorrected visual acuity of 33 eyes(10.78%and 76 eyes(24.84%was >1.0 in 7d and 3mo after MSICS. The loss ratio of cornea endothelia cells was 8.7%, The recursive of corneal astigmatism was on average 0.75D compared with preoperation. Uncorrected visual acuity of 63 eyes(20.59%and 92 eyes(30.07%was >1.0 in 7d and 3mo after phacoemulsification. The loss ratio of cornea endothelia cells was 21.67%. The average corneal astigmatism was -0.5DC and -0.45DC in MSICS group and Phaco group respectively, but 3mo after surgery, there was no significant difference on corneal astigmatism between the two groups(P>0.05.CONCLUSION: Due to the use of Phaco machine, the cost is higher in Phaco group, and the Phaco mechanical stimulation, injury, ultrasonic energy and perfusion solutions have effects on corneal endothelium, visual acuity recovery at early postoperative is slow. However, MSICS dose not use Phaco machine, works by hands, the cost is lower, and visual acuity recovery at early postoperative is faster.

  3. 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.

  4. Expression of nuclear factor-κB in traumatic cataract

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Objective: To study the differences in expression of nuclear factor-κB (NF-κB) between human traumatic cataract and normal lenticular epithelial cells.Methods: Total RNA of anterior capsule specimens was taken under the microscope from normal cadaveric eyes donors and those suffering from traumatic cataract to make semi-quantitative RT-PCR and conduct analysis of differences in expression of NF-κB between them.Results: As compared with the mcan of 0. 8337 in normal control group, the expression equivalent of NF-κB was 0.9074 for the lenticular epithelial cells in traumatic cataract sufferers, and the differences are of noticeable significance (t = 2. 447, P < 0.05) accordingly.Conclusions: NF-κB is likely a kind of transcription factor necessary to maintain metabolism of normal lenticular epithelial cells. Higher NF-κ B available in the traumatic cataract sufferer's lenticular epithelial cells means NF-κB is of possible relevance to occurrence and development of traumatic cataract.

  5. OCULAR BIOMETRY IN ANGLE CLOSURE GLAUCOMA AND SENILE CATARACT

    Institute of Scientific and Technical Information of China (English)

    WANG Yu-lan; SHENG Yao-hua; YE Xiang-yu

    2008-01-01

    Objective To compare ocular biometric values in angle closure glaucoma and cataract in senile population.Methods Ocular biometry was performed in eyes classified to have angle closure glaucoma (29 eyes) and senile cataract (31 eyes). Ocular biometry readings between two groups were compared and analyzed statistically. Intraocular pressure was also recorded before and after lens extraction.Results Anterior chamber depth was shallower in patients with angle closure glaucoma group [(1.79±0.56) mm] compared with senile cataract group [(2.69±0.40) mm] (P<0.01). Lens thickness was greater in angle closure glaucoma group [(5.30±0.61) mm] than that in senile cataract group [(3.84±0.61) mm] (P<0.01). Phacoemusification was performed in 5 patients with persistent acute attack of angle closure glaucoma. IOPs were controlled in all five cases after lens extraction.Conclusion Eyes with angle closure glaucoma seems to have significantly shallow anterior chamber and greater lens thickness compared to senile cataract eyes in the same age. Lens extraction might be effective in those cases with such anatomy features.

  6. [Intraocular pressure decrease after manual small incision cataract surgery].

    Science.gov (United States)

    Nganga Ngabou, C G F; Makita, C; Ndalla, S S; Nkokolo, F; Madzou, M

    2017-05-01

    We decided to evaluate the decrease in intraocular pressure six months after cataract surgery. We evaluated patients' IOP using an applanation tonometer. The patients then underwent cataract surgery. Six months after cataract surgery, we reevaluated the IOP by the same method, and we determined the post-operative change. Among the 147 operated eyes, 123 eyes or 83.67% exhibited a decrease in IOP. The mean preoperative IOP for the operative eye was 15.61±4.5mmHg; the mean post-operative IOP was 12.57±3.5mmHg; the mean IOP decrease after surgery was 3.16±4mmHg, for a mean decrease of 20%. This decrease is statistically significant, Pdecrease in IOP varies proportionally to the initial IOP. In glaucomatous patients, the mean preoperative IOP was 23.16±5.68mmHg and mean post-operative IOP was 14.5±2.7mmHg, a decrease of 37.39%. The decrease in IOP after cataract surgery was generally moderate. However, this IOP decreased proportionally to the initial IOP, thus giving significant decreases for higher IOPs. This decrease in IOP, well known after phacoemulsification, was also obtained after Manual Small Incision Cataract Surgery, a surgical technique which is increasingly employed in developing countries. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  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. Subluxed traumatic cataract: optical coherence tomography findings and clinical management

    Directory of Open Access Journals (Sweden)

    Kuriyan AE

    2012-12-01

    Full Text Available Ajay E Kuriyan, Harry W Flynn Jr, Sonia H YooDepartment of Ophthalmology, Bascom Palmer Eye Institute, University of Miami, Miami, FLAbstract: This case report describes the optical coherence tomography (OCT findings and clinical management of a patient with traumatic subluxed cataract. The patient presented with a traumatic subluxed cataract and vitreous prolapse into the anterior chamber. The anterior segment OCT showed vacuoles in the anterior subcapsular regions of the crystalline lens. The patient was treated with pars plana lensectomy, vitrectomy, and placement of an anterior chamber intraocular lens. The patient's best corrected visual acuity improved from hand motion at presentation to 20/25 during 3 years of follow-up. Anterior segment OCT demonstrates that the clinically visible vacuoles in traumatic cataract are located in the anterior subcapsular part of the lens. This is the first report in the literature using anterior segment OCT to visualize the subcapsular vacuolar changes in a traumatic cataract.Keywords: traumatic cataract, subluxed lens, vacuoles, anterior chamber intraocular lens, anterior segment optical coherence tomography

  9. Cx43, ZO-1, alpha-catenin and beta-catenin in cataractous lens epithelial cells

    Indian Academy of Sciences (India)

    Anshul I Arora; Kaid Johar; Devarshi U Gajjar; Darshini A Ganatra; Forum B Kayastha; Anuradha K Pal; Alpesh R Patel; Rajkumar S; Abhay R Vasavada

    2012-12-01

    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). Clear lenses (=11) obtained from donor eyes were used as controls. Expression was studied by immunofluorescence, real-time PCR and Western blot. Statistical analysis was done using the student’s -test. Immunofluorescence results showed punctate localization of Cx43 at the cell boundaries in controls, nuclear cataract and PSC groups. In the cortical cataract group, cytoplasmic pools of Cx43 without any localization at the cell boundaries were observed. Real-time PCR results showed significant up-regulation of Cx43 in nuclear and cortical cataract groups. Western blot results revealed significant increase in protein levels of Cx43 and significant decrease of ZO-1 in all three cataract groups. Protein levels of alpha-catenin were decreased significantly in nuclear and cortical cataract group. There was no significant change in expression of beta-catenin in the cataractous groups. Our findings suggest that ZO-1 and alpha-catenin are important for gap junctions containing Cx43 in the LECs. Alterations in cell junction proteins may play a role during formation of different types of cataract.

  10. 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...

  11. Effects of histone acetylation on superoxide dismutase 1 gene expression in the pathogenesis of senile cataract

    Science.gov (United States)

    Rong, Xianfang; Qiu, Xiaodi; Jiang, Yongxiang; Li, Dan; Xu, Jie; Zhang, Yinglei; Lu, Yi

    2016-01-01

    Histone acetylation plays key roles in gene expression, but its effects on superoxide dismutase 1 (SOD1) expression in senile cataract remains unknown. To address this problem, the study was to investigate the influence of histone acetylation on SOD1 expression and its effects in the pathogenesis of senile cataract. Senile cataract was classified into three types—nuclear cataract (NC), cortical cataract (CC), and posterior subcapsular cataract (SC)—using the Lens Opacities Classification System III. In senile cataracts, SOD1 expression decreased significantly. Both H3 and H4 were deacetylated at −600 bp of the SOD1 promoter of cataract lenses, and hypoacetylated at −1500, −1200, and −900 bp. In hypoacetylated histones, the hypoacetylation pattern differed among the cataracts. In vitro, anacardic acid (AA) significantly reduced H3 and H4 acetylation at the SOD1 promoter, decreased protein expression, and induced cataract formation in rabbits. AA also inhibited HLEC viability and increased cell apoptosis. In contrast, trichostatin A (TSA) was able to efficaciously stop AA’s effects on both rabbit lenses and HLECs. Decreased histone acetylation at the SOD1 promoter is associated with declined SOD1 expression in senile cataracts. Histone acetylation plays an essential role in the regulation of SOD1 expression and in the pathogenesis of senile cataracts. PMID:27703255

  12. Bilateral Total Cataract after Laser Treatment of Aggressive Posterior Retinopathy of Prematurity.

    Science.gov (United States)

    Chandra, Parijat; Khokhar, Sudarshan; Kumar, Atul

    2016-11-07

    Laser is the gold standard for treatment of retinopathy of prematurity (ROP). A preterm baby born at 26 weeks gestation age with bilateral aggressive posterior ROP had bilateral total cataract after laser treatment. Uneventful cataract surgery. Aggressive laser treatment in aggressive posterior ROP can rarely lead to anterior segment ischemia and cataract.

  13. 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.

  14. 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 dimen

  15. Patients' experiences with quality of hospital care: The Consumer Quality Index Cataract Questionnaire

    NARCIS (Netherlands)

    J.H. Stubbe; W. Brouwer (Wendy); D.M.J. Delnoij (Diana)

    2007-01-01

    textabstractBackground. 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 a

  16. Risk Factors for the Development of Cataract in Children with Uveitis.

    Science.gov (United States)

    Blum-Hareuveni, Tamar; Seguin-Greenstein, Sophie; Kramer, Michal; Hareuveni, Guy; Sharon, Yael; Friling, Ronit; Sharief, Lazha; Lightman, Sue; Tomkins-Netzer, Oren

    2017-05-01

    To determine the risk factors for the development of cataract in children with uveitis of any etiology. Cohort study. Two hundred forty-seven eyes of 140 children with uveitis were evaluated for the development of vision-affecting cataract. Demographic, clinical, and treatment data were collected between the time of presentation and the first instance cataract was recorded or findings at final follow-up. Main outcome measures included the prevalence of cataract and distribution by type of uveitis, incidence of new onset cataract time to cataract development, and risk factors for the development of cataract. The prevalence of cataract in our cohort was 44.2% and was highest among eyes with panuveitis (77.1%), chronic anterior uveitis (48.3%), and intermediate uveitis (48.0%). The overall incidence of newly diagnosed cataract was 0.09 per eye-year, with an estimated 69% to develop uveitis-related cataract with time. The main factors related with cataract development were the number of uveitis flares per year (hazard ratio [HR] = 3.06 [95% confidence interval {CI}, 2.15-4.35], P uveitis and is most strongly related to the extent of inflammation recurrences and ocular complications. We suggest that controlling the inflammation, even using higher doses of systemic and topical corticosteroids, is of importance in preventing ocular complications, such as cataract. Copyright © 2017 Elsevier Inc. All rights reserved.

  17. Management of hereditary angioedema: 2010 Canadian approach

    Directory of Open Access Journals (Sweden)

    Bowen Tom

    2010-07-01

    Full Text Available Abstract C1-inhibitor (C1-INH deficiency is a rare blood disorder resulting in angioedema attacks that are debilitating and may be life-threatening. Prophylaxis and therapy of events has changed since our first Canadian Consensus Conference on the diagnosis, therapy and management of HAE. We have formed the Canadian Hereditary Angioedema Network (CHAEN/Réseau Canadien d'Angioédème Héréditaire (RCAH - http://www.haecanada.com to advance care of patients with this disorder in Canada. We here present a review of management of HAE in Canada.

  18. 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...

  19. The arthropathy of hereditary arthroophthalmopathy (Stickler syndrome).

    Science.gov (United States)

    Lewkonia, R M

    1992-08-01

    Hereditary arthroophthalmopathy (Stickler syndrome) is an autosomal dominant syndrome characterized by musculoskeletal, ophthalmic and dysmorphic facial features. A family is described illustrating diverse expressions of Stickler syndrome, including abnormalities not directly attributable to mutation of the type II procollagen gene. A review of the literature demonstrates a range of articular problems, several of which are not specific to Stickler syndrome, and might be encountered in either adult or pediatric rheumatology practice. Stickler syndrome may be underrecognized by rheumatologists, particularly if the significance of nonarticular clinical features or a positive family history are not appreciated.

  20. Platelet Function in Basset Hound Hereditary Thrombopathy.

    Science.gov (United States)

    1986-01-01

    Hematol, 17(4),242-258, 1980. 5. CHARO, I.F., FEINMAN , R.D., DETWILER, T.C. Interrelation of platelet aggregation and secretion. J. Clin. Invest...of dogs affected with Basset Hound Hereditary Thrombopathy. Thromb Au, 3, 61-71, 1985. 4. DETWILER, T.C., CHARO, I.F., AND FEINMAN , R.D. Evidence...glycoproteins. Surv Synth Path Res 1:274, 1983. Charo IF, Feinman RD, and Detwiler TC. Interrelation of platelet aggregation and secretion. J Clin Invest 60

  1. The humanistic burden of hereditary angioedema

    DEFF Research Database (Denmark)

    Caballero, Teresa; Aygören-Pürsün, Emel; Bygum, Anette

    2014-01-01

    and impact of HAE types I and II from the patient perspective. The HAE Burden of Illness Study in Europe was conducted in Spain, Germany, and Denmark to assess the real-world experience of HAE from the patient perspective via a one-time survey, which included items on clinical characteristics and physical......Hereditary angioedema (HAE) is a rare but potentially life-threatening disease marked by spontaneous, recurrent attacks of swelling. The broad range of consequences of HAE on patients? lives is not well understood. The study objective was to comprehensively characterize the burden of illness...

  2. Hereditary mucoepithelial dysplasia and severe respiratory distress

    Directory of Open Access Journals (Sweden)

    Mahmoud Halawa

    2015-01-01

    Full Text Available Hereditary mucoepithelial dysplasia (HMD is a rare autosomal dominant disorder characterized by mucoepithelial disruption of the skin, hair and mucous membranes. It results from defective gap junction formation and leads to non-scarring alopecia, mucosal erythema, perineal erythematous intertrigo, involvement of the conjunctival mucosa, and pulmonary disease. We present a case of severe respiratory distress in an initially healthy full term infant born to a mother with HMD. This infant later developed signs and symptoms of HMD. A high index of suspicion for pulmonary infection with atypical organism is essential in infants with a family history of HMD who present with respiratory distress.

  3. Multiple mechanisms for hereditary sideroblastic anemia.

    Science.gov (United States)

    Furuyama, Kazumichi; Sassa, Shigeru

    2002-02-01

    Hereditary sideroblastic anemia (HSA) is a heterogeneous group of inherited anemic disorders which is characterized by the presence of ringed sideroblasts in the bone marrow, microcytic hypochromic anemia and typically its X-linked inheritance in patients. It has been shown that a deficiency of the erythroid-specific delta-aminolevulinate synthase (ALAS-E) activity is responsible for pyridoxine-responsive HSA in many patients, however, the pathogenesis of other types of HSA remains still unknown. In this article, recent evidence suggesting multiple causes for HSA is summarized and discussed.

  4. Moyamoya Syndrome Associated With Hereditary Spherocytosis: An Emerging Clinical Entity.

    Science.gov (United States)

    Gait-Carr, Eleanor; Connolly, Daniel J A; King, David

    2017-04-01

    Moyamoya syndrome is an unusual cerebrovascular disorder, which has rarely been reported in association with hereditary spherocytosis. We present the case of a 6-year-old boy with hereditary spherocytosis who was diagnosed with Moyamoya syndrome following a stroke. We discuss why these conditions may coexist and briefly outline the management of such children.

  5. [DNA-based diagnosis of hereditary tumour predisposition

    NARCIS (Netherlands)

    Menko, F.H.; Ligtenberg, M.J.L.; Brouwer, T.; Hahn, D.E.; Ausems, M.G.E.M.

    2007-01-01

    Of all forms of cancer, approximately 5% are caused by factors leading to a strong genetic predisposition. DNA diagnosis is currently used in families with hereditary tumour syndromes, such as familial adenomatous polyposis, hereditary non-polyposis colorectal carcinoma (Lynch syndrome), and heredit

  6. [Hereditary haemochromatosis: novel genes, novel diseases and hepcidin

    NARCIS (Netherlands)

    Bergmans, J.P.; Kemna, E.H.J.M.; Janssen, M.C.; Jacobs, E.M.G.; Stalenhoef, A.F.H.; Marx, J.J.M.; Swinkels, D.W.

    2007-01-01

    Since the discovery of the HFE gene of hereditary haemochromatosis in 1996 several new genetic defects have been identified, enabling explanation of the cause and variety of this disease. To date, at least 5 major types of hereditary haemochromatosis have been recognised. All these genes encode for

  7. Cerebral abscesses among Danish patients with hereditary haemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Kjeldsen, A D; Tørring, P M; Nissen, H;

    2013-01-01

    Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations (PAVMs), which due to paradoxical embolization may cause cerebral abscess.......Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations (PAVMs), which due to paradoxical embolization may cause cerebral abscess....

  8. 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.

  9. Corneal endothelial cell loss in post-penetrating keratoplasty patients after cataract surgery: phacoemulsification versus planned extracapsular cataract extraction.

    Science.gov (United States)

    Acar, Banu Torun; Buttanri, Ibrahim Bulent; Sevim, Mehmet Sahin; Acar, Suphi

    2011-08-01

    To compare the changes in endothelial cell density (ECD) in post-penetrating keratoplasty (PKP) patients after cataract extraction with phacoemulsification or planned extracapsular cataract extraction (ECCE). Haydarpasa Numune Education and Research Hospital, Ophthalmology Clinic, Istanbul, Turkey. Clinical trial. Eyes with hard nuclear cataract that had previous PKP were randomly assigned to have phacoemulsification or ECCE. Noncontact specular microscopy was performed preoperatively and 1, 3, and 6 months postoperatively. Twenty-six eyes of 26 patients were enrolled (14 phacoemulsification; 12 ECCE). Six months postoperatively, the mean corneal ECD was statistically significantly lower in the phacoemulsification group (1869.50 cells/mm(2) ± 158.05 [SD]) than in the ECCE group (1996.00 ± 127.96 cells/mm(2)) (P=.024). The mean percentage of endothelial cell loss at 6 months was 20.3% and 12.7%, respectively (P.05). Extracapsular cataract extraction seemed to cause less endothelial cell damage than phacoemulsification in post-PKP patients with hard nuclear cataract. Copyright © 2011 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  10. 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

  11. [Incisions for biaxial and coaxial microincision cataract surgery].

    Science.gov (United States)

    Müller, M; Kohnen, T

    2010-02-01

    Microincision cataract surgery (MICS) represents a new level in the development of cataract surgery. Phacoemulsification with intraocular lens (IOL) implantation via incisions of phaco tip (C-MICS), or by the biaxial approach, with separation of the phaco tip and irrigation (B-MICS). Compared with standard small-incision cataract surgery, the advantages of MICS are less corneal astigmatism and fewer corneal surface irregularities, with favorable implications for visual quality and early rehabilitation. In the effort toward smaller incisions, special interest should be given to wound integrity, especially regarding the risk of endophthalmitis. With limited corneal elastic capacity, irreversible expansion of the incision with tissue laceration may occur. Smaller incisions are superior only if they cause less trauma. This requires an optimized relationship between incision size and manipulation during IOL implantation as well as attention to safety issues. MICS offers a platform for new benchmarks in phacoemulsification.

  12. Cataract related blindness in India & its social implications.

    Science.gov (United States)

    Angra, S K; Murthy, G V; Gupta, S K; Angra, V

    1997-10-01

    The prevalence of blindness in India is 14.9 per 1000. Eighty per cent of this blindness is due to cataract alone. Most of the cataract blinds in the country are in the rural areas while the surgical service delivery network is concentrated in the urban areas. Thus a large proportion of patients in the rural areas continue to remain blind. This situation has many social implications. There is loss of productivity, breakdown of interpersonal relationships, depressive manifestations, loss of self esteem and most patients lead an isolated humiliating life. Patients lack information on the available services and continue to remain blind for years even after being diagnosed as operable. This is unfortunate because cataract surgery is one of the most cost effective health interventions known and most operated patients, irrespective of the surgical technique, are immensely satisfied with the level of visual rehabilitation after surgery.

  13. 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.

  14. Corneoscleral abscess resulting from a broken suture after cataract surgery.

    Science.gov (United States)

    Cameron, J A; Huaman, A

    1994-01-01

    An 82-year-old man had pain and decreased vision in his right eye 15 months after uncomplicated cataract surgery. Examination revealed a large corneoscleral abscess with a 2 mm x 1 mm area of fluorescein staining at the base of a broken protruding 10-0 nylon suture. Streptococcus pneumoniae was isolated from both the suture and base of the ulcer. Despite intensive topical, subconjunctival, and systemic antibiotics, a large corneal perforation developed, necessitating a 10 mm tectonic penetrating keratoplasty. Long-term follow-up of patients after cataract surgery is important and should include an inspection of the limbal wound and removal of loose or broken exposed sutures. Suture-related complications will be eliminated if clinical studies prove the safety and efficacy of sutureless cataract surgery.

  15. Results of cataract surgery in elderly people from Jatibonico municipality.

    Directory of Open Access Journals (Sweden)

    Arelys Caraballo Díaz

    2012-03-01

    Full Text Available A cataract is considered a disease of great magnitude and importance due to the decrease of visual acuity it causes and because it is widespread in the world. A descriptive study was conducted in order to describe the results of cataract surgery by extracting the extracapsular lens and placing an intraocular lens in elderly people operated on at the "Camilo Cienfuegos" General Hospital in the province of Sancti Spiritus, belonging to Jatibonico municipality in the period from January 3 to December 31, 2008. The population consisted of all cataract surgery patients aged 60 and over. 187 patients. The following variables were used: sex, age, eye diseases associated complications and visual results after placing an intraocular lens. Age between 60 and 69 years (78%, and female sex (29% were predominant. Posterior capsule rupture (34% and its opacity (34% were the main intraoperative and postoperative complications. Despite complications, there was an improvement of visual acuity evident after the completion of surgery.

  16. 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.

  17. Cataract Surgery with a Refractive Corneal Inlay in Place

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    N. R. Stojanovic

    2015-01-01

    Full Text Available Purpose. To present a case of cataract surgery performed in a patient with a refractive corneal inlay in place. Methods. A 48-year-old female patient presented to our institute with bilateral cataract. The patient had undergone refractive corneal inlay implantation three years ago in her right, nondominant eye for presbyopia correction. Biometry and intraocular lens (IOL power calculation were performed without removing the inlay. Phacoemulsification and IOL insertion were carried out in both eyes in a usual manner. Results. On day one postoperatively, the patient achieved binocular uncorrected distance visual acuity 20/20 and uncorrected near visual acuity J1. The vision remained stable during the one-year follow-up period. Conclusion. Cataract surgery was performed in a standard manner in a patient with Presbia Microlens corneal inlay in place. Visual outcomes for both near and distance vision were satisfactory.

  18. Vitrectorhexis versus forceps posterior capsulorhexis in pediatric cataract surgery

    Directory of Open Access Journals (Sweden)

    Lav Kochgaway

    2013-01-01

    Full Text Available This study was done to compare the results of posterior continuous curvilinear capsulorhexis created using forceps with those created using vitrector in eyes suffering from congenital cataract. Vitrectorhexis term was first used by Wilson et al in 1999. [1] Fifty eyes with congenital and developmental cataract were included in this study. The posterior capsulorhexis was created using utrata forceps in 17 eyes or through a vitrector in 33 eyes. Forceps capsulorhexis was performed before IOL implantation, while vitrectorhexis was performed after IOL implantation in the bag. The results of both the surgery were compared using the following criteria: incidence of extension of rhexis, ability to achieve posterior rhexis of appropriate size, ability to implant the IOL in the bag, the surgical time, and learning curve. Vitrectorhexis after IOL implantation was an easy to learn alternative to manual posterior continuous curvilinear capsulorhexis in pediatric cataract surgery. It was more predictable and reproducible, with a short learning curve and lesser surgical time.

  19. Prevention of cataract in diabetic mice by topical pyruvate

    Directory of Open Access Journals (Sweden)

    Hegde KR

    2011-08-01

    Full Text Available KR Hegde1,3, S Kovtun1, SD Varma1,21Ophthalmology and Visual Sciences, 2Biochemistry and Molecular Biology, University of Maryland School of Medicine, 3Coppin State University, Department of Natural Sciences, Baltimore, MD, USABackground: It has been previously reported that oral administration of sodium pyruvate inhibits oxidative stress and cataract formation in diabetic animals. With a view to exploring the clinical usefulness of these findings, this study examined its preventive effect when administered topically as an eye drop.Methods: Diabetes was induced by intraperitoneal injections of streptozotocin. At the onset of diabetes, an eye drop preparation containing 2.5% sodium pyruvate was administered six times a day at 90-minute intervals. Treatment was continued for 6 weeks. Cataract formation was monitored ophthalmoscopically after mydriasis with 1% tropicamide eye drops. Subsequently, the treated and untreated diabetic animals and the age-matched normal controls were euthanized, their eyes enucleated, and the lenses isolated for biochemical assessment of protein glycation and glutathione levels.Results: Treatment with pyruvate eye drops was found to be significantly effective in inhibiting protein glycation. Glutathione levels were also better maintained. In addition, ophthalmoscopic examination revealed that the incidence of cataract in the pyruvate-treated group was only 12% as compared with the untreated diabetics in whom the incidence was 73%. Cataracts at this stage were largely equatorial.Conclusion: The results demonstrate that topical application of pyruvate can potentially be useful in attenuating or preventing cataract formation induced by diabetes and other conditions of oxidative stress.Keywords: pyruvate eye drops, diabetic cataract, protein glycation, oxidative stress

  20. Cataract Surgery for Tilted Lens in Peters' Anomaly Type 2

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    Tadayuki Nishide

    2013-09-01

    Full Text Available Background: Cases of cataract surgery without penetrating keratoplasty in patients with Peters' anomaly are very rare. We report a case of Peters' anomaly type 2 with tilted lens due to synechia between the lens and iris that was treated with cataract surgery without penetrating keratoplasty. Case Presentation: A 16-year-old girl had Peters' anomaly in both eyes. Corneal opacity was severe in the left eye due to high-grade dysgenesis of the anterior segment. In the right eye, corneal opacity had spread from the center of the cornea to the inferotemporal side, and there was synechia between the iris and corneal endothelium from the inferonasal side to the inferotemporal side. Opacity was observed in the anterior pole of the lens, and there was synechia between the anterior iris and the lens. Ultrasound biomicroscopy (UBM revealed that the lens was tilted because of synechia. The tilted lens induced astigmatism, which reduced visual acuity to 20/250, in conjunction with a cataract. Cataract surgery was performed; the synechia between the lens capsule and the iris was severed, an intraocular lens was inserted, and the tilt was repaired. UBM was used postoperatively to confirm that the lens capsule synechia had been corrected and that the intraocular lens was not tilted. As a result, visual acuity improved to 20/100; glaucoma and expansion of corneal opacity were not observed. Conclusions: Severing of the synechia between the cataract and iris, during cataract surgery, in a patient with Peters' anomaly type 2 resulted in favorable postoperative visual acuity.

  1. New technology update: femtosecond laser in cataract surgery

    Directory of Open Access Journals (Sweden)

    Nagy ZZ

    2014-06-01

    Full Text Available Zoltan Z NagyDepartment of Ophthalmology, Semmelweis University, Budapest, HungaryAbstract: Femtosecond lasers represent a new frontier in cataract surgery. Since their ­introduction and first human treatment in 2008, a lot of new developments have been achieved. In this review article, the physical principle of femtolasers is discussed, together with the indications and side effects of the method in cataract surgery. The most important clinical results are also presented regarding capsulotomy, fragmentation of the crystalline lens, corneal wound creation, and refractive results. Safety issues such as endothelial and macular changes are also discussed. The most important advantage of femtolaser cataract technology at present is that all the important surgical steps of cataract surgery can be planned and customized, delivering unparalleled accuracy, repeatability, and consistency in surgical results. The advantages of premium lenses can be maximally used in visual and presbyopia restoration as well. The advantages of ­premium lenses can be maximally used, not only in visual, but in presbyopia restoration as well. Quality of vision can be improved with less posterior chamber lens (PCL tilt, more centralized position of the PCL, possibly less endothelial damage, less macular edema, and less posterior capsule opacification (PCO formation. This technological achievement should be followed by other technical developments in the lens industry. Hopefully this review article will help us to understand the technology and the results to ­demonstrate the differences between the use of femtolasers and phacoemulsification-based cataract surgery. The most important data of the literature are summarized to show ophthalmologists the benefits of the technology in order to provide the best refractive results to the patient.Keywords: femtosecond laser-assisted cataract surgery, capsulotomy, lens fragmentation, corneal wound, arcuate keratotomy, safety

  2. Natural therapies for ocular disorders, part two: cataracts and glaucoma.

    Science.gov (United States)

    Head, K A

    2001-04-01

    Pathophysiological mechanisms of cataract formation include deficient glutathione levels contributing to a faulty antioxidant defense system within the lens of the eye. Nutrients to increase glutathione levels and activity include lipoic acid, vitamins E and C, and selenium. Cataract patients also tend to be deficient in vitamin A and the carotenes, lutein and zeaxanthin. The B vitamin riboflavin appears to play an essential role as a precursor to flavin adenine dinucleotide (FAD), a co-factor for glutathione reductase activity. Other nutrients and botanicals, which may benefit cataract patients or help prevent cataracts, include pantethine, folic acid, melatonin, and bilberry. Diabetic cataracts are caused by an elevation of polyols within the lens of the eye catalyzed by the enzyme aldose reductase. Flavonoids, particularly quercetin and its derivatives, are potent inhibitors of aldose reductase. Glaucoma is characterized by increased intraocular pressure (IOP) in some but not all cases. Some patients with glaucoma have normal IOP but poor circulation, resulting in damage to the optic nerve. Faulty glycosaminoglycan (GAG) synthesis or breakdown in the trabecular meshwork associated with aqueous outflow has also been implicated. Similar to patients with cataracts, those with glaucoma typically have compromised antioxidant defense systems as well. Nutrients that can impact GAGs such as vitamin C and glucosamine sulfate may hold promise for glaucoma treatment. Vitamin C in high doses has been found to lower IOP via its osmotic effect. Other nutrients holding some potential benefit for glaucoma include lipoic acid, vitamin B12, magnesium, and melatonin. Botanicals may offer some therapeutic potential. Ginkgo biloba increases circulation to the optic nerve; forskolin (an extract from Coleus forskohlii) has been used successfully as a topical agent to lower IOP; and intramuscular injections of Salvia miltiorrhiza have shown benefit in improving visual acuity and

  3. 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

  4. Leber hereditary optic neuropathy: current perspectives

    Directory of Open Access Journals (Sweden)

    Meyerson C

    2015-06-01

    Full Text Available Cherise Meyerson, Greg Van Stavern, Collin McClelland Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO, USA Abstract: 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. Keywords: Leber hereditary optic neuropathy, mitochondria, neuro-ophthalmology, mitochondrial DNA

  5. Epidemiology of non-hereditary angioedema.

    Science.gov (United States)

    Madsen, Flemming; Attermann, Jørn; Linneberg, Allan

    2012-09-01

    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 C(1) esterase inhibitor protein (functional C(1) INH). The general population sample (44% response rate) reported a lifetime prevalence of 7.4% for angioedema. In both groups symptoms were most frequent in the lips, head, neck, eyes and tongue. In the C(1) INH test normal group angioedema was still active at the time of the study in 53% of the patients, and 36% reported symptoms in the throat, 23% in the abdominal area, 17% had diarrhoea, 11% had vomiting and 6% fainted during attacks. Non-hereditary angioedema has high lifetime prevalence and becomes chronic in approximately 50% of affected patients. Symptoms in the larynx and throat, as well as non-specific symptoms, such as dizziness and abdominal pain, were more frequent than previously reported.

  6. 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......% in the abdominal area, 17% had diarrhoea, 11% had vomiting and 6% fainted during attacks. Non-hereditary angioedema has high lifetime prevalence and becomes chronic in approximately 50% of affected patients. Symptoms in the larynx and throat, as well as non-specific symptoms, such as dizziness and abdominal pain......) reported a lifetime prevalence of 7.4% for angioedema. In both groups symptoms were most frequent in the lips, head, neck, eyes and tongue. In the C1 INH test normal group angioedema was still active at the time of the study in 53% of the patients, and 36% reported symptoms in the throat, 23...

  7. Molecular genetics of distal hereditary motor neuropathies.

    Science.gov (United States)

    Irobi, Joy; De Jonghe, Peter; Timmerman, Vincent

    2004-10-01

    Inherited peripheral neuropathies comprise a wide variety of diseases primarily affecting the peripheral nervous system. The best-known peripheral neuropathy is Charcot-Marie-Tooth disease (CMT) described in 1886 by J.-M. Charcot, P. Marie and H.H. Tooth. In 1980, A.E. Harding and P.K. Thomas showed that in a large group of individuals with CMT, several only had motor abnormalities on clinical and electrophysiological examination, whereas sensory abnormalities were absent. This exclusively motor variant of CMT was designated as spinal CMT or hereditary distal spinal muscular atrophy, and included in the distal hereditary motor neuropathies (distal HMN). The distal HMN are clinically and genetically heterogeneous and are subdivided according to the mode of inheritance, age at onset and clinical evolution. Since the introduction of positional cloning, 12 chromosomal loci and seven disease-causing genes have been identified for autosomal dominant and recessive distal HMN. Most of the genes involved have housekeeping functions, as in RNA processing, translation synthesis, glycosylation, stress response, apoptosis, but also axonal trafficking and editing. Functional characterization of the mutations will help to unravel the cellular processes that underlie the specificity of motor neuropathies leading to neurogenic muscular atrophy of distal limb muscles. Here we review the recent progress of the molecular genetics of distal HMN and discuss the genes implicated.

  8. Molecular genetics of hereditary sensory neuropathies.

    Science.gov (United States)

    Auer-Grumbach, Michaela; Mauko, Barbara; Auer-Grumbach, Piet; Pieber, Thomas R

    2006-01-01

    Hereditary sensory neuropathies (HSN), also known as hereditary sensory and autonomic neuropathies (HSAN), are a clinically and genetically heterogeneous group of disorders. They are caused by neuronal atrophy and degeneration, predominantly affecting peripheral sensory and autonomic neurons. Both congenital and juvenile to adulthood onset is possible. Currently, the classification of the HSN depends on the mode of inheritance, age at onset, and clinical presentation. Hallmark features are progressive sensory loss, chronic skin ulcers, and other skin abnormalities. Spontaneous fractures and neuropathic arthropathy are frequent complications and often necessitate amputations. Autonomic features vary between different subgroups. Distal muscle weakness and wasting may be present and is sometimes so prominent that it becomes difficult to distinguish HSN from Charcot-Marie-Tooth syndrome. Recent major advances in molecular genetics have led to the identification of seven gene loci and six-disease causing genes for autosomal-dominant and autosomal-recessive HSN. These genes have been shown to play roles in lipid metabolism and the regulation of intracellular vesicular transport, but also a presumptive transcriptional regulator, a nerve growth factor receptor, and a nerve growth factor have been described among the causative genes in HSN. Nevertheless, it remains unclear how mutations in the known genes lead to the phenotype of HSN. In this review, we summarize the recent progress of the molecular genetics of the HSN and the implicated genes.

  9. HEREDITARY FRUCTOSE INTOLERANCE – CASE REPORT

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    Jernej Brecelj

    2002-03-01

    Full Text Available Background. Hereditary fructose intolerance is a rare inborn error of carbohydrate metabolism that presents with hypoglicemia, metabolic acidosis and liver decompensation when the patient is exposed to fructose. Diagnosis was established by fructose tolerance test in the past and nowadays mostly by determination of deficient enzyme fructose-1phosphate aldolase (aldolase B activity in hepatic tissue or by molecular genetic means if the mutation is known. Treatment involves elimination (in infants or reduction of fructose and sucrose from the diet and results in improvement in the patient’s clinical status and liver disease.Results. This article presents a patient with hereditary fructose intolerance who was diagnosed 18 years ago on the Department of Pediatric Gastroenterology, Ljubljana Children’s Hospital. At that time oral fructose tolerance test was used to diagnose the disorder. When she was 17 we performed liver biopsy. The enzyme determination showed the absence of aldolase B activity.Conclusions. Only cooperation of different experts enables recognition of rare metabolic disorders which must be prompt to prevent further damage.

  10. Post-cataract surgery diplopia: aetiology, management and prevention.

    Science.gov (United States)

    Kalantzis, George; Papaconstantinou, Dimitris; Karagiannis, Dimitris; Koutsandrea, Chryssanthi; Stavropoulou, Dora; Georgalas, Ilias

    2014-09-01

    Diplopia is an infrequent but distressing adverse outcome after uncomplicated cataract surgery. Many factors may contribute to the occurrence of this problem, including prolonged sensory deprivation resulting in disruption of sensory fusion, paresis of one or more extraocular muscles, myotoxic effects of local anaesthesia, optical aberrations (for example, aniseikonia) and pre-existing disorders (for example, thyroid orbitopathy). The purpose of this review is to present the aetiology and clinical features of diplopia after cataract surgery and to discuss the possible modalities for the prevention and treatment of this frustrating complication.

  11. Drill and chop: modified vertical chop technique for hard cataract.

    Science.gov (United States)

    Kim, Dae Yune; Jang, Jung Hyun

    2012-01-01

    The authors describe a technique to improve the control and safety of vertical chopping during hard cataract surgery. Whereas the conventional vertical chop technique uses a sharp vertical chopper, the proposed technique uses a short blunt chopper. This requires complete engagement of the central nucleus by a phaco tip. The authors first drilled a hole into the endonucleus. By rotating the Kelman phaco tip clockwise, the nucleus was deeply impaled horizontally and firmly engaged with the phaco tip. This was followed by vertical chopping. This technique results in safer and more effective vertical chopping in patients with hard cataracts. Copyright 2012, SLACK Incorporated.

  12. Development of cataract caused by diabetes mellitus: Raman study

    Science.gov (United States)

    Furić, Krešimir; Mohaček-Grošev, Vlasta; Hadžija, Mirko

    2005-06-01

    Diabetes mellitus succeeded by diabetic cataract was induced to experimental animals (Wistar rats) by applying an Alloxan injection. Eye properties deterioration were monitored from clinical standpoint and using Raman and infrared spectroscopies. All cases of developed cataract were followed by important changes in vibrational spectra, but Raman spectroscopy proved to be more useful because of larger number of resolved bands. Each kth Raman spectrum of diseased lens (in our notation k denotes disease age and cataract degree as described in chapter Alloxan diabetes) can be expressed as a sum of the Raman spectrum of healthy lens, I R, multiplied by a suitable constant ck, and the fluorescent background spectrum, I FB. We introduce the ratio of integrated intensities IFB and ck* IR as a physical parameter called fluorescent background index F FB. It turns out that FFB grows as cataract progresses and has its maximum at approx. 4, whence it decreases. FFB values are larger for 200-1800 cm -1 spectral interval than for 2500-4000 cm -1 interval. In the same manner another quantity called water band index FW is defined for each Raman spectrum of diseased lens in the 2800-3730 cm -1 interval. It is the ratio of the integrated intensity from 3100 to 3730 cm -1 (water band interval) divided by the integrated intensity of the 2800-3100 cm -1 interval (C-H stretching region). FW increases monotonously with cataract progression with maximum at the end of monitored period (5 months). These two indices helped us to formulate a model describing disease development from the earliest molecular changes to its macroscopic manifestation. As glucose and other small saccharide molecules enter the lens tissue, they bind to crystallin and other proteins via O- and S-glycosidic linkages which occur probably at tyrosine and cystein sites. In Raman spectrum this corresponds to broad bands at 540 and 1100 cm -1 which grow together with the fluorescent background, because both contributions

  13. 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.

  14. Cataract prevalence and prevention in Europe: a literature review

    OpenAIRE

    2012-01-01

    This literature review is aimed at the evaluation of the potential for cataract prevention in Europe. It was performed using Pub-MED with Mesh and free text terms. Studies included were: a) performed on a population of Caucasian origin at an age range of 40-95 years, b) cataract was clinically verified, c) drug record of prescriptions, their indication, a record of every diagnosis, dosage, and quantity of prescribed medicine were available, d) sample size >300, e) published between 1990 and 2...

  15. Country-Wide Monitoring of Cataract Surgical Outcomes

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    Moses C Chirambo

    2002-01-01

    Full Text Available The Lions SightFirst Eye Hospital (LSFEH in Lilongwe, Malawi, participated in the initial study to develop monitoring systems for cataract outcome. The pilot study took place between 1 June and 31 December, 2000. All surgery was done at the Lions SightFirst Hospital, Lilongwe. The number of cataract operations recorded in the study was 454.However, the proportion of patients seen for review was 89%, mainly because of active follow-up of those patients who did not come for review on their own.

  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 Study of G6PD in Erythrocyte and Lens in Senile and Presenile Cataract

    Institute of Scientific and Technical Information of China (English)

    1992-01-01

    The G6PD activity of erythrocytes in 113 male patients with senile and presenile cataract and 86 controls, and G6PD activity of lens in 30 patients with senile cataract and 42 controls were reported. The cataractous group had higher frequency of G6PD deficiency and lower average G6PD level in erythrocytes and lenses, but with out statistical significance. The frequency of G6PD deficiency of erythrocytes in presenile cataractous group was higher than that of senile cataractous group but with no statistic...

  18. 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.

  19. [Therapeutic approach in patients with age-related macular degeneration and cataract].

    Science.gov (United States)

    Tomi, Anca; Moldoveanu, A; Marin, Irina

    2011-01-01

    Management of the patient with coexisting cataract and AMD presents unique challenges to the cataract surgeon, the retina specialist, and the patient. A common clinical scenario is the patient in whom both the cataract and macular pathology appear to be contributing to decreased visual acuity. As with any surgery, the expectations from cataract removal must be evaluated thoroughly and understood clearly by both the patient and the cataract surgeon. Most patients with AMD who undergo cataract surgery feel that the surgery is worthwhile, and they report improvement of visual function and quality of life. In patients with mild AMD, improvement in central visual acuity and attainment of driving vision are realistic and achievable goals. In an eye with central disciform scarring or geographic atrophy there may be potential for improvement in color discrimination, contrast, or clarity of peripheral vision. In cases of dense cataract obscuring macular detail, cataract removal may be necessary to allow for adequate biomicroscopy and angiography, especially in an eye that may be at high risk for the development of choroidal neovascularization. It is often challenging to estimate the relative impact on visual impairment made by the lens opacities and the macular changes and the benefits and risks of cataract surgery in eyes with AMD should be carefully evaluated. Is cataract surgery justified in these patients? Does cataract surgery aggravate AMD in some patients?

  20. 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.

  1. 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.

  2. Cataract surgery in patients with neovascular age-related macular degeneration

    DEFF Research Database (Denmark)

    Kessel, Line; Koefoed Theil, Pernille; Lykke Sørensen, Torben;

    2016-01-01

    being treated with a median of 10 (range 3-36) anti-VEGF injections for neovascular AMD. Visual acuity improved by a mean of 7.1 [95% confidence interval (CI) 4.6-9.6] ETDRS letters in the first 6 months after cataract surgery. The need of anti-VEGF injections did not change after cataract surgery...... in electronic databases managing anti-VEGF injections and cataract surgery. We compared Early Treatment of Diabetic Retinopathy Study (ETDRS) visual acuity and frequency of anti-VEGF injections before and after cataract surgery. RESULTS: We identified 89 eyes from 89 patients who had cataract surgery after...... AMD. Cataract surgery was not associated with an increased need for anti-VEGF treatment and patients who were in active anti-VEGF treatment had better visual outcomes than patients who had cataract surgery after long injection-free periods....

  3. Global challenges in the management of congenital cataract: proceedings of the 4th International Congenital Cataract Symposium held on March 7, 2014, New York, New York.

    Science.gov (United States)

    Lenhart, Phoebe D; Courtright, Paul; Wilson, M Edward; Lewallen, Susan; Taylor, David Samuel; Ventura, Marcelo C; Bowman, Richard; Woodward, Lee; Ditta, Lauren C; Kruger, Stacey; Haddad, Danny; El Shakankiri, Nihal; Rai, Salma Kc; Bailey, Tehara; Lambert, Scott R

    2015-04-01

    Childhood cataracts have become a leading cause of preventable childhood blindness in many areas of the world. Here we summarize regional focus group discussions from the 4th Annual International Congenital Cataract Symposium on the current situation, challenges, and recommendations for the management of congenital cataracts in sub-Saharan Africa, the Middle East and North Africa, South Asia, Central America, South America, and developed nations. Strategies for managing congenital cataracts must be adapted and developed according to regional conditions. A basic framework for acceptable outcomes must focus on developing systems to address the critical components of education, access, quality care, and good follow-up.

  4. High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia

    Directory of Open Access Journals (Sweden)

    Shari Javadiyan

    2017-10-01

    Full Text Available Pediatric cataract is a leading cause of childhood blindness. This study aimed to determine the genetic cause of pediatric cataract in Australian families by screening known disease-associated genes using massively parallel sequencing technology. We sequenced 51 previously reported pediatric cataract genes in 33 affected individuals with a family history (cases with previously known or published mutations were excluded using the Ion Torrent Personal Genome Machine. Variants were prioritized for validation if they were predicted to alter the protein sequence and were absent or rare with minor allele frequency 60% of familial pediatric cataract in Australia, indicating that still more causative genes remain to be identified.

  5. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  7. Hereditary red cell membrane disorders and laboratory diagnostic testing.

    Science.gov (United States)

    King, M-J; Zanella, A

    2013-06-01

    This overview describes two groups of nonimmune hereditary hemolytic anemias caused by defects in membrane proteins located in distinct layers of the red cell membrane. Hereditary spherocytosis (HS), hereditary elliptocytosis (HE), and hereditary pyropoikilocytosis (HPP) represent disorders of the red cell cytoskeleton. Hereditary stomatocytoses represents disorders of cation permeability in the red cell membrane. The current laboratory screening tests for HS are the osmotic fragility test, acid glycerol lysis time test (AGLT), cryohemolysis test, and eosin-5'-maleimide (EMA)-binding test. For atypical HS, SDS-polyacrylamide gel electrophoresis of erythrocyte membrane proteins is carried out to confirm the diagnosis. The diagnosis of HE/HPP is based on abnormal red cell morphology and the detection of protein 4.1R deficiency or spectrin variants using gel electrophoresis. None of screening tests can detect all HS cases. Some testing centers (a survey of 25 laboratories) use a combination of tests (e.g., AGLT and EMA). No specific screening test for hereditary stomatocytoses is available. The preliminary diagnosis is based on presenting a compensated hemolytic anemia, macrocytosis, and a temperature or time dependent pseudohyperkalemia in some patients. Both the EMA-binding test and the osmotic fragility test may help in differential diagnosis of HS and hereditary stomatocytosis.

  8. The effect of blue-blocking and neutral intraocular lenses on circadian photoentrainment and sleep one year after cataract surgery

    DEFF Research Database (Denmark)

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

    2017-01-01

    PURPOSE: To compare the long-term effect on circadian photoentrainment and sleep in patients implanted with neutral and blue-blocking intraocular lenses 1 year after cataract surgery. METHODS: Randomized, controlled trial involving 67 patients with age-related cataract. Intervention was cataract...... compared with neutral IOLs. Cataract surgery improved the response of ipRGCs and sleep quality. However, the effect of cataract surgery on sleep quality may be unrelated to circadian photoentrainment....

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

    African Journals Online (AJOL)

    2012-01-25

    Jan 25, 2012 ... why a number of cataract blind encountered at homes or communities are not ... eye care worker: A community health worker placed at the primary level of care with short ... The discussion was recorded by digital voice recorder and also ... of the workers in the tertiary, state, and private respectively agree to ...

  10. Ant-egg cataract. An electron microscopic study

    DEFF Research Database (Denmark)

    Schrøder, H D; Nissen, S H

    1979-01-01

    The ultrastructure of the ant-egg cataractous lens has been studied. Comparison of tissue demineralized by means of EDTA with untreated tissue showed the calcium salts in the ant-eggs to be mostly crystalline. A laminar appearance of the ant-egg seen in EDTA treated material suggested an intermit...

  11. Combined trabeculectomy and cataract extraction-A retrospective study

    Directory of Open Access Journals (Sweden)

    Prasad V

    1988-01-01

    Full Text Available Ninety six eyes haying senile cataract and as-sociated open-angle glaucoma had been operated upon over a period of seven years by a combined procedure. The advantages of combined opera-tion have been discussed. The results were en-couraging.

  12. Posterior Iris Fixated Intraocular Lens for Pediatric Traumatic Cataract

    Science.gov (United States)

    Kavitha, V.; Balasubramanian, Preethi; Heralgi, Mallikarjun M.

    2016-01-01

    Purpose: To evaluate the postoperative visual outcomes and complications of posterior iris fixated intraocular lens (IFIOL) implantation for pediatric traumatic cataract. Methods: A retrospective clinical audit was performed of all the pediatric traumatic cataract patients who underwent lens removal and iris fixated lens implantation due to inadequate capsular support with or without corneal tear repair between January 2009 and December 2013. Data were collected and analyzed on the preoperative and postoperative visual outcomes and complications. Results: Twenty-five children (25 eyes; 21 males and 4 females) were enrolled with the mean age of 11 ± 4.0 years. There were 72% of eyes that underwent primary cataract removal with IFIOL implantation. Twenty-eight percent of eyes underwent corneal tear repair prior to intraocular lens (IOL) implantation. Preoperative best corrected visual acuity (BCVA) was hand motion in 32% eyes, counting fingers in 24%, and perception of light in 44%. Postoperative BCVA of 0-0.2 logarithm of minimum angle of resolution was reported in the 64% of eyes. One eye developed secondary glaucoma, one eye underwent re-enclavation, and none developed retinal complications. Conclusion: Posterior IFIOL implantation resulted in an improved visual outcome, low incidence of postoperative complications, and is a good alternative to other IOL, in the cases of pediatric traumatic cataract without adequate capsular support. PMID:27162456

  13. Treatment of congenital aniridia associated with subluxated infantile cataract.

    Science.gov (United States)

    Jusufovic, Vahid; Cabric, Emir; Popovic-Beganovic, Allen; Musanovic, Zlatko; Zvornicanin, Jasmin

    2014-06-01

    A 5 year old boy was presented at Eye clinic University clinical center Tuzla with congenital aniridia in both eyes. Clinical examination revealed visual acuity of 0,08 without correction in right and 0.7 with -5.0 Dsph and -1.0 Dcyl Axx 109° in left eye. Opthalmologic examination showed bilateral aniridia associated with moderate cataract in the right and incipient cataract in the left eye. In the right eye, zonular weakness with incipient capsular displacement and esotropia of Δ6º, were noted. The patient underwent phacoemulsification, implantation of capsular tension ring and Artificial Iris implant in the capsular bag. Phacoemulsification went uneventful and early postoperative recovery was successful with no signs of aniridia-associated keratopathy development and normal values of intra ocular pressure. Patient was not motivated for operation of the left eye and it was corrected with soft contact lens. Six month after the operation visual acuity in the right eye improved to 0.9 with +1.25Dsph and maintained stable in left eye, with complete elimination of esotropia and signs of binocular vision restoration. Small incision cataract extraction with IOL and Artificial Iris implantation in one procedure can be used to correct congenital aniridia and cataract with significant visual function improvement.

  14. Peripheral radial chop technique for phacoemulsification of hard cataracts

    Institute of Scientific and Technical Information of China (English)

    LI Shao-wei; XIE Li-xin; SONG Zhen-hua; MENG Li; JIANG Jian

    2007-01-01

    Background Phacoemulsification yields successful outcomes in eyes with standard cataract. Though techniques have been improved, it is still challenging to perform phacoemulsification in cases of hard cataracts for difficulty in nuclear management and much more complications. This study aimed at describing and evaluating the efficacy and safety of a peripheral radial chop technique to remove hard cataracts.Methods In this prospective study conducted between January 2003 and January 2004, 107 consecutive eyes with hard cataract underwent modified phacoemulsification surgery with peripheral radial chop technique by the Bausch & Lomb Millennium phacoemulsifier with preset parameters of power less than 30%; vaccum, 150 mmHg; and bottle height,85 cm when a DP8145 phaco tip was used, and vaccum, 380 mmHg; bottle height, 95 cm when a DP8245 phaco tip was used.Results The mean ultrasonic power was 14.7% (range 9% to 19%), ultrasonic time was 1.98 minutes (range 1.55 to 3.18 minutes). At 1, 7 and 30 days postoperatively, the eyes with uncorrected visual acuity 0.5 or better accounted for 76.42%, 87.16% and 90.67% respectively. At 1 month, the endothelial cell loss rate was 9.74% (range 8% to 17%). There were 6 cases of posterior capsule rupture in an early period of study. No serious intraoperative or postoperative complications were noted.Conclusions The peripheral radial chop technique was effective without serious complications in hands of an experienced surgeon.

  15. 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.

  16. Treatment of congenital aniridia associated with subluxated infantile cataract.

    Science.gov (United States)

    Jusufovic, Vahid; Cabric, Emir; Popovic-Beganovic, Allen; Musanovic, Zlatko; Zvornicanin, Jasmin

    2014-01-01

    A 5 year old boy was presented at Eye clinic University clinical center Tuzla with congenital aniridia in both eyes. Clinical examination revealed visual acuity of 0.08 without correction in right and 0.7 with -5.0 Dsph and -1.0 Dcyl Axx 109 degrees in left eye. Opthalmologic examination showed bilateral aniridia associated with moderate cataract in the right and incipient cataract in the left eye. In the right eye, zonular weakness with incipient capsular displacement and esotropia of delta6 degrees, were noted. The patient underwent phacoemulsification, implantation of capsular tension ring and Artificial Iris implant in the capsular bag. Phacoemulsification went uneventful and early postoperative recovery was successful with no signs of aniridia-associated keratopathy development and normal values of intra ocular pressure. Patient was not motivated for operation of the left eye and it was corrected with soft contact lens. Six month after the operation visual acuity in the right eye improved to 0.9 with +1.25 Dsph and maintained stable in left eye, with complete elimination of esotropia and signs of binocular vision restoration. Small incision cataract extraction with IOL and Artificial Iris implantation in one procedure can be used to correct congenital aniridia and cataract with significant visual function improvement.

  17. Peripheral radial chop technique for phacoemulsification of hard cataracts.

    Science.gov (United States)

    Li, Shao-wei; Xie, Li-xin; Song, Zhen-hua; Meng, Li; Jiang, Jian

    2007-02-20

    Phacoemulsification yields successful outcomes in eyes with standard cataract. Though techniques have been improved, it is still challenging to perform phacoemulsification in cases of hard cataracts for difficulty in nuclear management and much more complications. This study aimed at describing and evaluating the efficacy and safety of a peripheral radial chop technique to remove hard cataracts. In this prospective study conducted between January 2003 and January 2004, 107 consecutive eyes with hard cataract underwent modified phacoemulsification surgery with peripheral radial chop technique by the Bausch & Lomb Millennium phacoemulsifier with preset parameters of power less than 30%; vaccum, 150 mmHg; and bottle height, 85 cm when a DP8145 phaco tip was used, and vaccum, 380 mmHg; bottle height, 95 cm when a DP8245 phaco tip was used. The mean ultrasonic power was 14.7% (range 9% to 19%), ultrasonic time was 1.98 minutes (range 1.55 to 3.18 minutes). At 1, 7 and 30 days postoperatively, the eyes with uncorrected visual acuity 0.5 or better accounted for 76.42%, 87.16% and 90.67% respectively. At 1 month, the endothelial cell loss rate was 9.74% (range 8% to 17%). There were 6 cases of posterior capsule rupture in an early period of study. No serious intraoperative or postoperative complications were noted. The peripheral radial chop technique was effective without serious complications in hands of an experienced surgeon.

  18. Irrigation dynamic pressure-assisted hydrodissection during cataract surgery

    Directory of Open Access Journals (Sweden)

    Masuda Y

    2017-02-01

    Full Text Available Yoichiro Masuda,1 Hisaharu Iwaki,2 Noriko Kato,1 Genichiro Takahashi,1 Kotaro Oki,3 Hiroshi Tsuneoka4 1Department of Ophthalmology, The Jikei University, Katsushika Medical Center, 2Iwaki Eye Clinic, 3Oki Eye Surgery Center, 4Department of Ophthalmology, The Jikei University, School of Medicine, Tokyo, Japan Abstract: The irrigation dynamic pressure-assisted hydrodissection technique (irrigation-hydro [iH] does not require performing manual hydrodissection using a syringe and cannula to achieve cortical-capsular cleavage during cataract surgery. Since the iH technique uses the phaco tip to intentionally vacuum the intraocular fluid in order to induce the irrigation dynamic pressure for cortical-capsular cleavage, there is a reduction in the intraocular pressure (IOP from the bottle-height-dependent hydrostatic pressure. Thus, since the peak irrigation pressure derived from the phaco tip sleeve will be limited by the height of the irrigation fluid bottle, this is advantageous in helping to avoid excessively high IOP during cortical-capsular hydrodissection. Using this technique, we were able to effectively perform phacoemulsification without complications in 607 of 609 cataract eyes. Our findings show that utilization of the iH technique would be of benefit to patients, as it prevents high-pressure hydrodissection-related complications, such as capsular block syndrome and tears in the anterior hyaloid membrane during cataract surgery. Keywords: cataract surgery, hydrodissection, irrigation pressure, hydrodissection-related complication, capsular block syndrome, anterior hyaloid membrane tear, FLACS

  19. The effect of cataract on eye movement perimetry

    NARCIS (Netherlands)

    G. Thepass; J.J.M. Pel (Johan); K.A. Vermeer (Koen); O. Creten; S. Bryan (Stirling); H.G. Lemij (Hans); J. van der Steen (Hans)

    2015-01-01

    textabstractPurpose. 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

  20. Monoclonal gammopathy in hereditary spherocytosis: Possible pathogenetic relation

    Energy Technology Data Exchange (ETDEWEB)

    Schafer, A.I. (Univ. of Chicago); Miller, J.B.; Lester, E.P.; Bowers, T.K.; Jacob, H.S.

    1978-01-01

    Two cases of monoclonal gammopathy in patients with hereditary spherocytosis led us to consider the possible pathogenetic relation between these two disorders. Twelve adult patients with hereditary spherocytosis had significant hypergammaglobulinemia in comparison to normal subjects. Retrospective analysis of previous illness in 140 patients with multiple myeloma showed a significant association between IgA myeloma and previous gallbladder disease. We propose that the chronic reticuloendothelial stimulation due to extravascular hemolysis, possibly potentiated by the inflammation associated with cholelithiasis and cholecystitis, may foster neoplastic transformation of immunocytes in patients with hereditary spherocytosis, ultimately leading to the development of monoclonal gammopathy.

  1. Diagnosis and Management of Hereditary Renal Cell Cancer.

    Science.gov (United States)

    Menko, Fred H; Maher, Eamonn R

    2016-01-01

    Renal cell cancer (RCC) is the common denominator for a heterogeneous group of diseases. The subclassification of these tumours is based on histological type and molecular pathogenesis. Insight into molecular pathogenesis has led to the development of targeted systemic therapies. Genetic susceptibility is the principal cause of RCC in about 2-4% of cases. Hereditary RCC is the umbrella term for about a dozen different conditions, the most frequent of which is von Hippel-Lindau disease . Here, we describe the main hereditary RCC syndromes, consider criteria for referral of RCC patients for clinical genetic assessment and discuss management options for patients with hereditary RCC and their at-risk relatives.

  2. 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

  3. 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

  4. Prevalence of pulmonary hypertension in hereditary spherocytosis.

    Science.gov (United States)

    Crary, Shelley E; Ramaciotti, Claudio; Buchanan, George R

    2011-12-01

    Vascular complications, including pulmonary hypertension (PH), have been reported to occur following splenectomy for various disorders,including hereditary spherocytosis (HS). We performed a prospective cross-sectional study of 36 adults with HS (78% with prior splenectomy)utilizing echocardiography to estimate tricuspid regurgitant jet velocity (TRV) as well as measurement of N-terminal pro-B-type natriuretic peptide (NT-proBNP) to screen for PH. No participant with HS hada significantly elevated TRV or NT-proBNP level, despite a median 25-year interval since splenectomy (95% confidence interval for point prevalence 0, 0.097). Although our study was limited by a small sample size, it appears that persons with HS, following splenectomy, appear unlikely to be at significantly increased risk of developing PH to the degree reported for thalassemia and sickle cell disease

  5. Hereditary gingival fibromatosis with distinctive facies.

    Science.gov (United States)

    Prasad, Sunkara Shree Ramalinga; Radharani, Chitturi; Sinha, Soumya; Kumar, Sv Kiran

    2012-11-01

    Hereditary gingival enlargement also known as gingivitis or familial elephantiasis is a rare type of gingival enlargement. It appears as an isolated autosomal dominant disorder or maybe associated with other conditions. Oral manifestations may vary from minimal involvement of only tuberosity area and the buccal gingiva around the lower molars to a generalized enlargement inhibiting eruption of the teeth. This paper discusses the case of a 13-year-old female patient with distinctive facial characteristics who presented to the department with a chief complaint of swollen gums since 1 year. She had severe diffuse gingival enlargement of the maxilla and mandible. Diagnosis was made based upon clinical examination and family history. Quadrant wise internal bevel gingivectomy procedure was done for the patient to restore her functional and esthetic needs.

  6. Hereditary palmoplantar keratodermas in South India.

    Science.gov (United States)

    Gulati, S; Thappa, D M; Garg, B R

    1997-12-01

    Thirty-one patients with inherited palmoplantar keratodermas (PPKs) were screened from 59,490 cases who visiting the OPD of JIPMER, Pondicherry. The prevalence rate was 5.2 per 10,000 population (1:2000 approx.). PPKs were more common in males (25 patients) than females (6 patients); the overall male to female ratio was 4.2:1. The incidence was highest in the group from 0-10 years of life (67.7% of cases). Unna-Thost syndrome topped the list with 38.7% of cases and its prevalence 1:6000 (approx.), followed by Greither's disease (22.9%) and others-Vohwinkel (3 cases), idiopathic punctate (2 cases), ichthyosis vulgaris associated PPK (2 cases) etc. This study has for the first time reported the prevalence and patterns of hereditary PPKs in South India.

  7. [Progress with management of hereditary angioedema].

    Science.gov (United States)

    Johnston, D T; Lode, H

    2013-03-21

    Hereditary angioedema (HAE) is a rare type of angioedema caused by a quantitative or functional deficit of C1 inhibitor (C1 INH) that leads to excess production of bradykinin, which can result in acute localized swelling attacks in the skin or mucous membranes of the mouth, head and neck, extremities, gastrointestinal (GI) tract, genitals, trunk, and larynx. Angioedema in the respiratorytract maycause airway obstruction; severe abdominal pain, vomiting, or diarrhea may occur in the GI tract. Patients with HAE may be diagnosed and managed by HAE specialists or by primary care physicians depending on individual circumstances. Proper treatment requires differentiation from other forms of angioedema. Patients with HAE who are managed appropriately with medications that treat and prevent atttacks may have a lower risk of death from laryngeal edema and a better quality of life. Less frequent attacks may allow them to attend work, school, and leisure activities more regularlyand be free of the pain and disfigurement of HAE attacks moreoften.

  8. Dementia in hereditary cystatin C amyloidosis

    DEFF Research Database (Denmark)

    Blöndal, H; Guomundsson, G; Benedikz, Eirikur

    1989-01-01

    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...... 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...... 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....

  9. Occurrence of hereditary bullous epidermolyses in Croatia.

    Science.gov (United States)

    Pavicić, Z; Kmet-Vizintin, P; Kansky, A; Dobrić, I

    1990-06-01

    To determine the occurrence of hereditary bullous epidermolyses (EB) in Croatia, Yugoslavia, from 1960 to 1987, cases were gathered from the hospital files of dermatologic and pediatric clinics and departments throughout the area. The diagnosis of EB type was made on the basis of clinical features, patients' histories, and light microscopy and electron microscopy findings. Fifty families with 58 patients were registered; 44 patients were examined personally by one of the authors. The most frequent type of EB in Croatia was recessive dystrophic EB Hallopeau-Siemens, occurring in 35 of the 58 individuals. Regional accumulation of cases within the Varazdin area was noted (13 patients). Prevalence of EB in Croatia is 0.956 cases per 100,000 inhabitants. One case of recessive dystrophic EB Hallopeau-Siemens occurred in about every 52,000 live births.

  10. [Research progress of Leber hereditary optic neuropathy].

    Science.gov (United States)

    Zhang, A-Mei; Yao, Yong-Gang

    2013-02-01

    Leber hereditary optic neuropathy (LHON; MIM 535000) is one of the most common mitochondrial diseases, with a clinical manifestation of painless, acute or sub-acute bilateral visual loss in young adults leading to blindness and central scotoma. Over 95% of LHON patients were caused by one of three primary mtDNA mutations (m.11778G>A, m.3460G>A and m.14484T>C). Incomplete penetrance and gender bias are two riddles of this disease. Here we summarized recent research progress of LHON, with a focus on the molecular pathogenic mechanisms, clinical features, in vitro experiments and animal models, and prevention and treatment of LHON. In particular, we presented the main findings and challenges in our recent efforts to decipher genetic susceptibility and mechanism of LHON in Chinese patients.

  11. Idebenone for Leber's hereditary optic neuropathy.

    Science.gov (United States)

    Gueven, N

    2016-03-01

    Idebenone is a rapidly absorbed, safe and well-tolerated drug and is currently the only clinically proven treatment option for Leber's hereditary optic neuropathy (LHON) patients. Idebenone (Raxone®) is approved by the European Medicines Agency for the treatment of LHON and has been available on the European market since 2015. Due to its molecular mode of action of bypassing the defective mitochondrial complex I, idebenone leads to improved energy supply and a functional recovery of retinal ganglion cells during the acute stage of the disease, thereby preventing further vision loss and promoting recovery of vision. Thus, commencing treatment shortly after the onset of symptoms is likely to have the best therapeutic effect, a hypothesis that is supported by the available clinical data.

  12. 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....... Skin from 12 individuals who served as controls and skin from 14 close relatives of the patients was negative for amyloid. Punch biopsy of the skin is a simple procedure which is of value for the diagnosis of HCCA, even before the appearance of clinical symptoms. This method might also be of use...

  13. Pulmonary hypertension in hereditary haemorrhagic telangiectasia

    Institute of Scientific and Technical Information of China (English)

    Veronique; MM; Vorselaars; Sebastiaan; Velthuis; Repke; J; Snijder; Jan; Albert; Vos; Johannes; J; Mager; Martijn; C; Post

    2015-01-01

    Hereditary haemorrhagic telangiectasia(HHT) is an autosomal dominant inherited disorder characterised by vascular malformations in predominantly the brain,liverand lungs.Pulmonary hypertension(PH) is increasingly recognised as a severe complication of HHT.PH may be categorised into two distinct types in patients with HHT.Post-capillary PH most often results from a high pulmonary blood flow that accompanies the high cardiac output state associated with liver arteriovenous malformations.Less frequently,the HHT-related gene mutations in ENG or ACVRL1 appear to predispose patients with HHT to develop pre-capillary pulmonary arterial hypertension.Differentiation between both forms of PH by right heart catheterisation is essential,since both entities are associated with severe morbidity and mortality with different treatment options.Therefore all HHT patients should be referred to an HHT centre.

  14. Dementia in hereditary cystatin C amyloidosis

    DEFF Research Database (Denmark)

    Blöndal, H; Guomundsson, G; Benedikz, Eirikur

    1989-01-01

    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...... 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...... 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....

  15. [Hereditary spastic paraplegia: up to date].

    Science.gov (United States)

    Takiyama, Yoshihisa

    2014-01-01

    Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders that are clinically characterized by progressive spasticity and weakness of the lower limbs. HSP genetic loci are designated SPG1-72 in order of their discovery. In 206 Japanese families with autosomal dominant HSP, SPG4 was the most common form, accounting for 38%, followed by SPG3A (5%), SPG31 (5%), SPG10 (2%), and SPG8 (1%). We have identified novel mutations in the C12orf65 gene and the LYST gene in several Japanese families with autosomal recessive HSP. JASPAC will facilitate gene discovery and mechanistic understanding of HSP. The future challenge will be the establishment of treatment of HSP.

  16. Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.

    Science.gov (United States)

    Lupo, Vincenzo; Aguado, Carmen; Knecht, Erwin; Espinós, Carmen

    2016-01-01

    Distal hereditary motor neuropathies (dHMN) are a group of rare hereditary neuromuscular disorders characterized by an atrophy that affects peroneal muscles in the absence of sensory symptoms. To date, 23 genes are thought to be responsible for dHMN, four of which encode chaperones: DNAJB2, which encodes a member of the HSP40/DNAJ co-chaperone family; and HSPB1, HSPB3, and HSPB8, encoding three members of the small heat shock protein family. While around 30 different mutations in HSPB1 have been identified, the remaining three genes are altered in many fewer cases. Indeed, a mutation of HSPB3 has only been described in one case, whereas a few cases have been reported carrying mutations in DNAJB2 and HSPB8, most of them caused by a founder c.352+1G>A mutation in DNAJB2 and by mutations affecting the K141 residue in the HSPB8 chaperone. Hence, their rare occurrence makes it difficult to understand the pathological mechanisms driven by such mutations in this neuropathy. Chaperones can assemble into multi-chaperone complexes that form an integrated chaperone network within the cell. Such complexes fulfill relevant roles in a variety of processes, such as the correct folding of newly synthesized proteins, in which chaperones escort them to precise cellular locations, and as a response to protein misfolding, which includes the degradation of proteins that fail to refold properly. Despite this range of functions, mutations in some of these chaperones lead to diseases with a similar clinical profile, suggesting common pathways. This review provides an overview of the genetics of those dHMNs that share a common disease mechanism and that are caused by mutations in four genes encoding chaperones: DNAJB2, HSPB1, HSPB3, and HSPB8.

  17. The Pathology of Hereditary Breast Cancer

    Directory of Open Access Journals (Sweden)

    Honrado Emiliano

    2004-07-01

    Full Text Available Abstract Several studies have demonstrated that familial breast cancers associated with BRCA1 or BRCA2 germline mutations differ in their morphological and immunohistochemical characteristics. Cancers associated with BRCA1 are poorly differentiated infiltrating ductal carcinomas (IDCs with higher mitotic counts and pleomorphism and less tubule formation than sporadic tumours. In addition, more cases with the morphological features of typical or atypical medullary carcinoma are seen in these patients. Breast carcinomas from BRCA2 mutation carriers tend to be of higher grade than sporadic age-matched controls. Regarding immunophenotypic features. BRCA1 tumours have been found to be more frequently oestrogen receptor- (ER and progesterone receptor-(PR negative, and p53-positive than age-matched controls, whereas these differences are not usually found in BRCA2-associated tumours. A higher frequency and unusual location of p53 mutations have been described in BRCA1/2 carcinomas. Furthermore, BRCA1- and BRCA2-associated breast carcinomas show a low frequency of HER-2 expression. Recent studies have shown that most BRCA1 carcinomas belong to the basal cell phenotype, a subtype of high grade, highly proliferating ER/HER2-negative breast carcinoma characterized by the expression of basal or myoepithelial markers, such as basal keratins, P-cadherin, EGFR, etc. This phenotype occurs with a higher incidence in BRCA1 tumours than in sporadic carcinomas and is rarely found in BRCA2 carcinomas. Hereditary carcinomas not attributable to BRCA1/2 mutations have phenotypic similarities with BRCA2 tumours, but tend to be of lesser grade and lower proliferation index. The pathological features of hereditary breast cancer can drive specific treatment and influence the process of mutation screening.

  18. Chaperonopathies: spotlight on hereditary motor neuropathies

    Directory of Open Access Journals (Sweden)

    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.

  19. Chaperonopathies: Spotlight on Hereditary Motor Neuropathies

    Science.gov (United States)

    Lupo, Vincenzo; Aguado, Carmen; Knecht, Erwin; Espinós, Carmen

    2016-01-01

    Distal hereditary motor neuropathies (dHMN) are a group of rare hereditary neuromuscular disorders characterized by an atrophy that affects peroneal muscles in the absence of sensory symptoms. To date, 23 genes are thought to be responsible for dHMN, four of which encode chaperones: DNAJB2, which encodes a member of the HSP40/DNAJ co-chaperone family; and HSPB1, HSPB3, and HSPB8, encoding three members of the small heat shock protein family. While around 30 different mutations in HSPB1 have been identified, the remaining three genes are altered in many fewer cases. Indeed, a mutation of HSPB3 has only been described in one case, whereas a few cases have been reported carrying mutations in DNAJB2 and HSPB8, most of them caused by a founder c.352+1G>A mutation in DNAJB2 and by mutations affecting the K141 residue in the HSPB8 chaperone. Hence, their rare occurrence makes it difficult to understand the pathological mechanisms driven by such mutations in this neuropathy. Chaperones can assemble into multi-chaperone complexes that form an integrated chaperone network within the cell. Such complexes fulfill relevant roles in a variety of processes, such as the correct folding of newly synthesized proteins, in which chaperones escort them to precise cellular locations, and as a response to protein misfolding, which includes the degradation of proteins that fail to refold properly. Despite this range of functions, mutations in some of these chaperones lead to diseases with a similar clinical profile, suggesting common pathways. This review provides an overview of the genetics of those dHMNs that share a common disease mechanism and that are caused by mutations in four genes encoding chaperones: DNAJB2, HSPB1, HSPB3, and HSPB8. PMID:28018906

  20. Focussing both eyes on health outcomes: revisiting cataract surgery

    Directory of Open Access Journals (Sweden)

    Davis Jennifer C

    2012-09-01

    Full Text Available Abstract Background The appropriateness of cataract surgery procedures has been questioned, the suggestion being that the surgery is sometimes undertaken too early in the disease progression. Our three study questions were: What is the level of visual impairment in patients scheduled for cataract surgery? What is the improvement following surgery? Given the thresholds for a minimal detectable change (MDC and a minimal clinically important difference (MCID, do gains in visual function reach the MDC and MCID thresholds? Methods The sample included a prospective cohort of cataract surgery patients from four Fraser Health Authority ophthalmologists. Visual function (VF-14 was assessed pre-operatively and at seven weeks post-operatively. Two groups from this cohort were included in this analysis: ‘all first eyes’ (cataract extraction on first eye and ‘both eyes’ (cataract removed from both eyes. Descriptive statistics, change scores for VF-14 for each eye group and proportion of patients who reach the MDC and MCID are reported. Results One hundred and forty-two patients are included in the ‘all first eyes’ analyses and 55 in the ‘both eyes’ analyses. The mean pre-operative VF-14 score for the ‘all first eyes’ group was 86.7 (on a 0–100 scale where 100 is full visual function. The mean change in VF-14 for the 'both eyes' group was 7.5. Twenty-three percent of patients achieved improvements in visual function beyond the MCID threshold and 35% saw improvement beyond the MDC. Conclusions Neither threshold level for MDC or MCID for the VF-14 scale was achieved for a majority of patients. A plausible explanation for this is the very high levels of pre-operative visual functioning.

  1. Results of endocapsular phacofracture debulking of hard cataracts

    Directory of Open Access Journals (Sweden)

    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

  2. The Gender Issue in Congenital and Developmental Cataract Surgery

    Directory of Open Access Journals (Sweden)

    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.

  3. Cataract after repeated daily in vivo exposure to ultraviolet radiation.

    Science.gov (United States)

    Galichanin, Konstantin; Löfgren, Stefan; Söderberg, Per

    2014-12-01

    Epidemiological data indicate a correlation between lifelong exposure to ultraviolet radiation and cortical cataract. However, there is no quantitative experimental data on the effect of daily repeated in vivo exposures of the eye to UVR. Therefore, this experiment was designed to verify whether the dose additivity for UVR exposures holds through periods of time up to 30 d. Eighty rats were conditioned to a rat restrainer 5 d prior to exposure. All animals were divided into four exposure period groups of 1, 3, 10, and 30 d of exposure to UVR. Each exposure period group of 20 animals was randomly divided into five cumulated UVR dose subgroups. Eighteen-wk-old non-anesthetized albino Sprague-Dawley rats were exposed daily to UVR-300 nm for 15 min. One week after the last exposure, animals were sacrificed. The lenses were extracted for macroscopic imaging of dark-field anatomy, and degree of cataract was quantified by measurement of the intensity of forward lens light scattering. Maximum tolerable dose (MTD(2.3:16)), a statistically defined standard for sensitivity for the threshold for UVR cataract, was estimated for each exposure period. Exposed lenses developed cataract with varying appearance on the anterior surface. Single low doses of UVR accumulated to cause cataract during periods up to 30 d. MTD(2.3:16) for 1, 3, 10, and 30 d of repeated exposures was estimated to 4.70, 4.74, 4.80, and 6.00 kJ m(-2), respectively. In conclusion, the lens sensitivity to UVR-B for 18-wk-old Sprague-Dawley rats decreases with the increasing number of days being exposed.

  4. Molecular and structural analysis of genetic variations in congenital cataract

    Science.gov (United States)

    Kumar, Manoj; Agarwal, Tushar; Kaur, Punit; Kumar, Manoj; Khokhar,, Sudarshan

    2013-01-01

    Objective To determine the relative contributions of mutations in congenital cataract cases in an Indian population by systematic screening of genes associated with cataract. Methods We enrolled 100 congenital cataract cases presenting at the Dr. R. P. Centre for Ophthalmic Sciences, a tertiary research and referral hospital (AIIMS, New Delhi, India). Crystallin, alpha A (CRYAA), CRYAB, CRYGs, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, beaded filament structural protein 1 (BFSP1), gap function protein, alpha 3 (GJA3), GJA8, and heat shock transcription factor 4 gene genes were amplified. Protein structure differences analysis was performed using Discovery Studio (DS) 2.0. Results The mean age of the patients was 17.45±16.51 months, and the age of onset was 1.618±0.7181 months. Sequencing analysis of 14 genes identified 18 nucleotide variations. Fourteen variations were found in the crystallin genes, one in Cx-46 (GJA3), and three in BFSP1. Conclusions Congenital cataract shows marked clinical and genetic heterogeneity. Five nucleotide variations (CRYBA4:p.Y67N, CRYBB1:p.D85N, CRYBB1:p.E75K, CRYBB1:p.E155K, and GJA3:p.M1V) were predicted to be pathogenic. Variants in other genes might also be involved in maintaining lens development, growth, and transparency. The study confirms that the crystallin beta cluster on chromosome 22, Cx-46, and BFSP1 plays a major role in maintaining lens transparency. This study also expands the mutation spectrum of the genes associated with congenital cataract. PMID:24319337

  5. Surgical techniques of cataract surgery and subsequent postoperative endophthalmitis.

    Science.gov (United States)

    Trinavarat, Adisak; Atchaneeyasakul, La-ongsri

    2005-11-01

    To compare the incidence and characteristics of patients with endophthalmitis after extracapsular cataract extraction (ECCE) to those after phacoemulsification Records of patients receiving intravitreal antibiotic injection to treat endophthalmitis after cataract surgery between Jan 2001 and Dec 2004 were reviewed. Demographic data and other characteristics including associated diseases, details of cataract surgical procedure and intraoperative complication, onset of endophthalmitis after cataract surgery, presenting symptoms and signs of endophthalmitis, how endophthalmitis was managed, causative organisms, duration of hospitalization and results of treatment were collected. This information was compared between those of endophthalmitis patients after ECCE and those after phacoemulsification. There were 5 cases who developed endophthalmitis after ECCE and 31 cases after phacoemulsification. The incidence was 0.365% after ECCE and 0.279% after phacoemulsification (p = 0.589). Visual acuity (VA) before cataract surgery in ECCE group was worse than the phacoemulsification group (median VA: counting fingers vs 6/36, p = 0.001). Median onset of endophthalmitis was 8 days after ECCE and 6 days after phacoemulsification. Presenting symptoms and signs were similar. Causative agents were identified in 4 (80%) and 14 (45%) cases in the ECCE and phacoemulsification groups respectively. Gram-positive bacteria were the major cause of infection in both groups. Endophthalmitis caused by citrobacter sp. in ECCE group and enterococcus or streptococcus sps. the phacoemulsification in the group ended up with enucleation or no light perception. The present study has not demonstrated an apparent difference between endophthalmitis after ECCE and those after phacoemulsification. Endophthalmitis after either procedure can be managed as the same condition.

  6. STUDY OF THE SUBSTRUCTURE OF THE MORGAGNI AND BRUNESCENS CATARACT WITH THE TAO NONCOATING TECHNIQUE .1. MORGAGNI CATARACT

    NARCIS (Netherlands)

    JONGEBLOED, WL; KALICHARAN, D; LOS, LI; WORST, JGF

    1992-01-01

    Lens tissue from a Morgagni cataract was examined by SEM and TEM. For SEM, after prefixation with glutaraldehyde and postfixation with the tannic acid/arginine/OsO4 non-coating (TAO) technique, and for TEM, after prefixation with glutaraldehyde, postfixation with OsO4/K4Fe(CN)6 and poststaining with

  7. Hereditary Lymphedema of the Leg – A Case Report

    Directory of Open Access Journals (Sweden)

    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.

  8. Deranged Wnt signaling is frequent in hereditary nonpolyposis colorectal cancer

    DEFF Research Database (Denmark)

    Isinger-Ekstrand, Anna; Therkildsen, Christina; Bernstein, Inge

    2011-01-01

    The Wnt signaling pathway is frequently deranged in colorectal cancer and is a key target for future preventive and therapeutic approaches. Colorectal cancers associated with the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome are characterized by wide-spread microsatellite instability...

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

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    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.

  10. An epidemiological survey of cataract among adults aged 50 years and above in rural, Shaanxi Province

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    Fang Tian

    2014-04-01

    Full Text Available AIM: To investigate prevalence of cataract and status surgery of cataract among adults aged 50 years and above in rural, Shaanxi Province, and to evaluate the rate of blindness caused by cataracts and postoperative effects.METHODS: Cluster sampling was used in randomly selection in Shaanxi Province from Jan. to Dec. in 2011, among the 3494 individuals from Liuba county, Huangling county, Lantian county and Baqiao district, 2124 aged 50 years and above received questionnaire survey and eye examination in the study. WHO diagnostic criteria and cataracts diagnostic criteria were used in the evaluation. RESULTS: Of 1912 participated the eye survey and response rate was 90%, the prevalence of cataracts was 36.66%, and the prevalence of cataracts among adults aged 50 years and above was 15.80%, the prevalence of cataracts among adults aged 70 years and above was 68.71%. The prevalence of age-related cataracts increased obviously with aging(PPCONCLUSION: Cataract blindness is a serious public health problem in rural, Shaanxi Province. Prevention of blindness in Shaanxi Province has made some achievements, and the prevalence of cataract and visual impairment have decreased to some extent. PHACO has been carried out in rural areas, however, the penetration and surgical techniques of PHACO should be further improved.

  11. Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.

    Science.gov (United States)

    Patel, Nisha; Anand, Deepti; Monies, Dorota; Maddirevula, Sateesh; Khan, Arif O; Algoufi, Talal; Alowain, Mohammed; Faqeih, Eissa; Alshammari, Muneera; Qudair, Ahmed; Alsharif, Hadeel; Aljubran, Fatimah; Alsaif, Hessa S; Ibrahim, Niema; Abdulwahab, Firdous M; Hashem, Mais; Alsedairy, Haifa; Aldahmesh, Mohammed A; Lachke, Salil A; Alkuraya, Fowzan S

    2017-02-01

    Pediatric cataract is highly heterogeneous clinically and etiologically. While mostly isolated, cataract can be part of many multisystem disorders, further complicating the diagnostic process. In this study, we applied genomic tools in the form of a multi-gene panel as well as whole-exome sequencing on unselected cohort of pediatric cataract (166 patients from 74 families). Mutations in previously reported cataract genes were identified in 58% for a total of 43 mutations, including 15 that are novel. GEMIN4 was independently mutated in families with a syndrome of cataract, global developmental delay with or without renal involvement. We also highlight a recognizable syndrome that resembles galactosemia (a fulminant infantile liver disease with cataract) caused by biallelic mutations in CYP51A1. A founder mutation in RIC1 (KIAA1432) was identified in patients with cataract, brain atrophy, microcephaly with or without cleft lip and palate. For non-syndromic pediatric cataract, we map a novel locus in a multiplex consanguineous family on 4p15.32 where exome sequencing revealed a homozygous truncating mutation in TAPT1. We report two further candidates that are biallelically inactivated each in a single cataract family: TAF1A (cataract with global developmental delay) and WDR87 (non-syndromic cataract). In addition to positional mapping data, we use iSyTE developmental lens expression and gene-network analysis to corroborate the proposed link between the novel candidate genes and cataract. Our study expands the phenotypic, allelic and locus heterogeneity of pediatric cataract. The high diagnostic yield of clinical genomics supports the adoption of this approach in this patient group.

  12. [Hereditary spherocytosis: Review. Part I. History, demographics, pathogenesis, and diagnosis].

    Science.gov (United States)

    Donato, Hugo; Crisp, Renée Leonor; Rapetti, María Cristina; García, Eliana; Attie, Myriam

    2015-01-01

    Hereditary spherocytosis is the most frequent hereditary anemia excluding beta thalassemia in Argentina. Historical, demographic, genetic and pathogenic aspects of the disease are reviewed, and confirmatory laboratory tests are described. Special characteristics on the outcome of the disease in our population and prevalent protein deficiencies in our country are described. Emphasis is given on new available laboratory tests, which allow an earlier diagnosis using volume of blood samples significantly smaller than required for conventional tests.

  13. An adolescent with hereditary spherocytosis who presented with splenic infarction.

    Science.gov (United States)

    Jones, Lara; Refai, Zafer; Linney, Mike

    2015-07-02

    A 16-year-old male patient with known hereditary spherocytosis presented with a 4-day history of chest pain and lethargy. On admission, he had a low-grade fever and was grossly anaemic; examination revealed splenomegaly. An ultrasound scan confirmed splenomegaly with areas of splenic infarction. Subsequent tests suggested possible Epstein-Barr virus infection. The patient recovered well and had a functional spleen on discharge. This case report presents an unusual complication of isolated hereditary spherocytosis.

  14. Pyoderma Gangrenosum in a Patient with Hereditary Spherocytosis.

    Science.gov (United States)

    Kwon, Hyoung Il; Paek, Jun Oh; Kim, Jeoung Eun; Ro, Young Suck; Ko, Joo Yeon

    2016-03-01

    Pyoderma gangrenosum (PG) is a rare, relapsing cutaneous disease with 4 distinctive clinical manifestations: ulcerative, bullous, pustular, and vegetative lesions. It mainly occurs in adults and is frequently associated with systemic diseases, most commonly inflammatory bowel disease, rheumatologic disease, or hematological dyscrasias. However, there have been no previous reports of PG in a patient with hereditary spherocytosis, a common inherited hemolytic anemia. We report here a unique case of PG in a 15-year-old boy with underlying hereditary spherocytosis.

  15. Acute edema blisters in a hereditary angioedema cutaneous attack.

    Science.gov (United States)

    Fernández Romero, D; Di Marco, P; Malbrán, A

    2008-01-01

    Hereditary angioedema is a rare autosomal dominant disease characterized by recurrent episodes of acute edema affecting the skin and the respiratory and digestive tracts. Acute edema blisters or hydro-static bullae develop after rapid accumulation of interstitial fluid usually associated to cardiac insufficiency. Lesions contain sterile fluid and break up easily resolving without scars. Blisters disappear when fluid accumulation resolves. We describe a patient developing recurrent acute edema blisters as a consequence of cutaneous hereditary angioedema attacks.

  16. Systemic treatment for hereditary cancers: a 2012 update

    OpenAIRE

    Imyanitov, Evgeny N; Byrski, Tomasz

    2013-01-01

    The history of specific therapy for hereditary tumors dates back to mid 1980s and involves a number of reports demonstrating regression of familial colon polyps upon administration of sulindac. Virtually no clinical studies on other hereditary cancer types were available until the year 2009, when Byrski et al. presented the data on unprecedented sensitivity of BRCA1-associated breast malignancies to cisplatin. This breakthrough has revived interest to the treatment of cancer in germ-line muta...

  17. Hereditary sensory autonomic neuropathy and anaesthesia - a case report

    Directory of Open Access Journals (Sweden)

    Nandini Dave

    2007-01-01

    Full Text Available The hereditary sensory and autonomic neuropathies are a rare group of disorders characterized by progressive loss of function that predominantly affects the peripheral sensory nerves. Autonomic dysfunction is present to a variable degree and can have several implications for anaesthesia. We report the case of a patient with Hereditary sensory and autonomic neuropathy who was posted for a below knee amputation and discuss the anaesthesia management.

  18. 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 X...

  19. Hereditary opalescent dentin: a report of two cases.

    Science.gov (United States)

    Gupta, Siddharth; Bhowate, Rahul R; Bhati, Ashok

    2010-07-01

    The aim of this case report is to present the clinical and radiographic findings of hereditary opalescent dentin to facilitate an early diagnosis. Hereditary opalescent dentin (or dentinogenesis imperfecta) may manifest itself in three variations: i.e., Shields type I, Shields type II, and Shields type III. Dentinogenesis imperfecta occurs as an autosomal dominant trait with variable expressivity, either in presence with osteogenesis imperfecta or as a separate clinical entity in persons who have none of the features of osteogenesis imperfecta. A seven-year old boy and his mother were both diagnosed with hereditary opalescent dentin. A review of the family dental history revealed that this condition affected not only the child's mother but his maternal grandfather and great grandfather. Both the son and the mother exhibited the same clinical and radiologic features as those reported previously with no evidence of osteogenesis imperfecta. Being an autosomal disease, hereditary opalescent dentin runs in the family and can affect both the deciduous and permanent dentitions as a dominant trait. Once a patient is diagnosed with hereditary opalescent dentin, other family members should be evaluated given the condition is hereditary.

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

    Directory of Open Access Journals (Sweden)

    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.

  1. 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

  2. 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.

  3. Results of cataract surgery in the very elderly population

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    Michalska-Małecka K

    2013-08-01

    Full Text Available Katarzyna Michalska-Małecka,1 Mariusz Nowak,2 Piotr Gościniewicz,1 Jacek Karpe,3 Ludmiła Słowińska-Łożyńska,4 Agnieszka Łypaczewska,1 Dorota Romaniuk11Department of Ophthalmology, University Hospital No 5, Medical University of Silesia, Katowice, 2Pathophysiology Division, Department of Pathophysiology and Endocrinology, Medical University of Silesia, Zabrze, 3Department of Anesthesiology and Intensive Therapy, Medical University of Silesia, Zabrze, 4Department of Biophysics, Faculty of Medicine in Zabrze, Medical University of Silesia, Katowice, Silesia, PolandAim: The aim of our study was to retrospectively evaluate the effectiveness and safety of cataract surgery and intraocular lens implantation (IOL for patients aged 90 years or older, whom we define as “very elderly.”Methods: The study involved a total number of 122 patients (122 eyes with senile cataracts. The mean age of patients was 91.2 ± 2.3 years (range 90–100 years old. Phacoemulsification (phaco was done on 113 of 122 eyes, and 9 of 122 eyes had extracapsular cataract extraction (ECCE. Postoperative visual acuity and intraocular pressure (IOP were analyzed on the first postoperative day, 3 months after surgery, and 6 months after surgery.Results: Best corrected visual acuity (BCVA improved in 100 of 122 eyes (82.0%. BCVA remained the same in 20 of 122 eyes (16.4% and decreased in 2 of 122 eyes (1.6%, mainly because of coexisting age-related macular degeneration (AMD. The BCVA 3 months after surgery was ≥0.8 in 23 of 122 eyes (18.9%, between 0.5 and 0.7 in 28 of 122 eyes (22.3%, and between 0.2 and 0.4 in 33 of 122 eyes (27.1%. We found significant implications of cataract surgery on decreasing IOP in the studied group of patients suffering from glaucoma compared to the patients without glaucoma.Conclusion: Advanced age is not a contraindication for cataract surgery. The results of the study showed that when systemic conditions are stable, both phaco and ECCE with

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

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    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.

  5. 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.

  6. 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.

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

    Directory of Open Access Journals (Sweden)

    Höblinger A

    2009-04-01

    Full Text Available Abstract 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.

  8. Manual small incision cataract surgery (MSICS) with posterior chamber intraocular lens versus extracapsular cataract extraction (ECCE) with posterior chamber intraocular lens for age-related cataract.

    Science.gov (United States)

    Ang, Marcus; Evans, Jennifer R; Mehta, Jod S

    2014-11-18

    Age-related cataract is the opacification of the lens, which occurs as a result of denaturation of lens proteins. Age-related cataract remains the leading cause of blindness globally, except in the most developed countries. A key question is what is the best way of removing the lens, especially in lower income settings. To compare two different techniques of lens removal in cataract surgery: manual small incision surgery (MSICS) and extracapsular cataract extraction (ECCE). We searched CENTRAL (which contains the Cochrane Eyes and Vision Group Trials Register) (2014, Issue 8), Ovid MEDLINE, Ovid MEDLINE In-Process and Other Non-Indexed Citations, Ovid MEDLINE Daily, Ovid OLDMEDLINE (January 1946 to September 2014), EMBASE (January 1980 to September 2014), Latin American and Caribbean Health Sciences Literature Database (LILACS) (January 1982 to September 2014), Web of Science Conference Proceedings Citation Index- Science (CPCI-S), (January 1990 to September 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 23 September 2014. We included randomised controlled trials (RCTs) only. Participants in the trials were people with age-related cataract. We included trials where MSICS with a posterior chamber intraocular lens (IOL) implant was compared to ECCE with a posterior chamber IOL implant. Data were collected independently by two authors. We aimed to collect data on presenting visual acuity 6/12 or better and best-corrected visual acuity of less than 6/60 at three months and one year after surgery. Other outcomes included intraoperative complications, long-term complications (one year or more after surgery), quality of life, and cost

  9. Electrical inhibition of lens epithelial cell proliferation: an additional factor in secondary cataract?

    OpenAIRE

    Wang, Entong; Reid, Brian; Lois, Noemi; Forrester, John V.; McCaig, Colin D.; Zhao, Min

    2005-01-01

    Cataract is the most common cause of blindness but is at least curable by surgery. Unfortunately, many patients gradually develop the complication of posterior capsule opacification (PCO) or secondary cataract. This arises from stimulated cell growth within the lens capsule and can greatly impair vision. It is not fully understood why residual lens epithelial cell growth occurs after surgery. We propose and show that cataract surgery might remove an important inhibitory factor for lens cell g...

  10. 儿童遗传性肾脏疾病%Hereditary kidney diseases in children

    Institute of Scientific and Technical Information of China (English)

    张琰琴; 丁洁; 王芳; 张宏文

    2013-01-01

    About 10 to 15 percent of kidney diseases are inherited or related to genetic factors. While, hereditary kidney diseases have no specific clinical manifestations and react poorly to the therapy, as a result, about 30 percent of hospitalized children with chronic renal failure is due to hereditary kidney diseases in our country. Hereditary kidney diseases are related to many genes. Molecular genetic analysis plays an important role in the diagnosis and prenatal diagnosis of hereditary kidney diseases. Our group have made a series of research in hereditary kidney diseases for nearly 30 years. Here we review the research work and the main results in hereditary kidney diseases of our group.

  11. Persistent vertical diplopia after cataract surgery: a case report.

    Science.gov (United States)

    Migliorini, R; Fratipietro, M; Segnalini, A; Arrico, L

    2013-01-01

    Diplopia is an event that can occur following cataract surgery, although its rate of occurrence is limited and ranges from 0.67% to 0.85%. The authors present a case of vertical diplopia arising after peribulbar anaesthesia for cataract surgery in a 78-year-old woman. Diplopia appeared at distance in primary position, while at near there was binocular single vision. Stereopsis was present at the Lang I - II Test, but the Wirth Test was incomplete. Although in the literature the frequency of these "accidents" is very limited, we think it is relevant to emphasize the need to perform pre-operative routine using a careful orthoptic examination along with a thorough medical, especially strabological, history.

  12. Keratitis by Aspergillus flavus infection after cataract surgery

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    João Luiz Pacini Costa

    Full Text Available ABSTRACT We report a case of keratis infection after cataract phacoemulsification with intraocular lens implantation in a 65-year-old female patient. The patient initially underwent cataract surgery on the right eye. Intraocular inflammation appeared on the second post-operative day and was initially treated as Toxic Anterior Segment Syndrome (TASS. The inflammation was reduced and vision improved initially but very aggressive and progressive keratitis destroyed the cornea due to the delay in correct diagnosis. Aspergillus flavus was isolated from a biopsy.The infection was treated with antifungal agents and loss of the eye was avoided by total corneal transplantation associated with Gundersen conjunctiva cover. To restore the lost vision, a second penetrating corneal graft with removal of the conjunctiva cover was performed 17 months later. The final best-corrected vision was 20/40 but prognosis for long-term graft survival is poor.

  13. Application of Foldable Intraocular Lens in Multiple Types of Cataract

    Institute of Scientific and Technical Information of China (English)

    Songtao Yuan; Qinghuai Liu; Qing Jiang; Nanrong Yuan

    2002-01-01

    Objective: To evaluate the clinical results of implantation of foldable intraocular lens inmultiple types of cataract.Methods: This retrospective study comprised 162 eyes of 148 patients undergoingphacoemulsification and implantation of foldable intraocular lens, some of whom under-went combined pars plana vitrectomy or trabeculectomy or silicone oil removal. Theperiod of follow-up was from 3 months to 17 months.Results: There is slight reaction postoperatively in all cases. The postoperative uncorrectedvisual acuites was from 0. 05 to 1.2, patient with 0.6 or above acuity were 70.98%. Aneodymium: YAG capsulotomy was required in 5 eyes. Posterior capsule ruptured in 1eyes, and a PMMA intraocular lens was implanted in ciliary sulcus. In one eye, a lenswas removed because of recurrence of retina detachment.Conclusions: The application of foldable intraocular lens in multiple types of cataract issafe, and there is a slight postoperative reaction. less complications , and fast visualacuity recovery.

  14. DEPLOYMENT OF SIX SIGMA METHODOLOGY IN PHACOEMULSIFICATION CATARACT SURGERY

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    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.

  15. Descemet's membrane detachments post cataract surgery: a management paradigm

    Science.gov (United States)

    Samarawickrama, Chameen; Beltz, Jacqueline; Chan, Elsie

    2016-01-01

    Descemet's membrane detachments (DMD) are relatively common after cataract surgery and most do not require any treatment. However, if large DMD are not treated appropriately, significant visual morbidity can ensue. We aim to develop a guideline for the management of DMD post cataract surgery based on a retrospective review of all cases encountered at the Royal Victorian Eye and Ear Hospital, Melbourne, Australia over a 4-year period from 2010 to 2014. We suggest conservative management if the visual axis is not involved; however, after 3mo surgical intervention may be warranted to prevent corneal sequelae. In cases where the visual axis is involved we suggest early intervention with air tamponade. The main risk factor for irreversible corneal oedema and subsequent endothelial transplant appears to be direct endothelial trauma rather than the DMD itself. PMID:28003989

  16. Cataract extraction in eyes with Fuchs' endothelial dystrophy in China

    Institute of Scientific and Technical Information of China (English)

    XIE Li-xin; HUANG Yu-sen; Ann Mei-Chi Chiu; LIN Ping; YAO Zhan; SUN Jie

    2005-01-01

    @@ It is a common belief that Fuchs' endothelial dystrophy predominantly affects Caucasians but rarely Asians. However, in one Japanese study, primary corneal guttae (first stage of Fuchs' dystrophy) were found in four of 107 cataract patients.1 With the growing popularity of phacoemulsification in China in the past decade, the increased incidence of endothelial decompensation may be due to learning curves among surgeons as well as that the prevalence of Fuchs' dystrophy among Chinese is higher than we thought. Low index of suspicion for Fuchs' dystrophy may result in missing of diagnosis and occurrence of endothelial decompensation, particularly when no extra protection is provided for endothelial cells during phacoemulsification. This study was aimed at improving our knowledge about Fuchs' dystrophy among Chinese population and reminding surgeons of extra endothelial protection during cataract surgery for patients with Fuchs' dystrophy.

  17. Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital Cataract

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    U. D. Shrestha

    2015-01-01

    Full Text Available Craniofacial microsomia (CFM includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Patients with hemifacial microsomia and epibulbar dermoids are said to have Goldenhar syndrome (GHS. Four-month-old boy with whitish pupillary reflex presented with the features of GHS in pediatric ophthalmology clinic. The child had ocular and auricular manifestations. There were no vertebral anomalies, but he had bilateral congenital cataract. The peculiarity of this case is the presence of the bilateral total congenital cataract, in association with CFM. There is absence of epibulbar dermoid or lipodermoid in the eyes, although the child had features of GHS. In addition to it, anesthetic intubation was smooth in this case. Any case diagnosed with CFM and/or GHS needs treatment through multidisciplinary approach, consultation in ophthalmology department is one of them.

  18. Growth and development: hereditary and mechanical modulations.

    Science.gov (United States)

    Mao, Jeremy J; Nah, Hyun-Duck

    2004-06-01

    Growth and development is the net result of environmental modulation of genetic inheritance. Mesenchymal cells differentiate into chondrogenic, osteogenic, and fibrogenic cells: the first 2 are chiefly responsible for endochondral ossification, and the last 2 for sutural growth. Cells are influenced by genes and environmental cues to migrate, proliferate, differentiate, and synthesize extracellular matrix in specific directions and magnitudes, ultimately resulting in macroscopic shapes such as the nose and the chin. Mechanical forces, the most studied environmental cues, readily modulate bone and cartilage growth. Recent experimental evidence demonstrates that cyclic forces evoke greater anabolic responses of not only craniofacial sutures, but also cranial base cartilage. Mechanical forces are transmitted as tissue-borne and cell-borne mechanical strain that in turn regulates gene expression, cell proliferation, differentiation, maturation, and matrix synthesis, the totality of which is growth and development. Thus, hereditary and mechanical modulations of growth and development share a common pathway via genes. Combined approaches using genetics, bioengineering, and quantitative biology are expected to bring new insight into growth and development, and might lead to innovative therapies for craniofacial skeletal dysplasia including malocclusion, dentofacial deformities, and craniofacial anomalies such as cleft palate and craniosynostosis, as well as disorders associated with the temporomandibular joint.

  19. Advances in laboratory diagnosis of hereditary spherocytosis.

    Science.gov (United States)

    Farias, Mariela Granero

    2016-11-12

    Among the red cell membrane disorders, hereditary spherocytosis (HS) is one of the most common causes of inherited hemolytic anemia. HS results from the deficiency or dysfunction of red blood cell membrane proteins, such as α spectrin, β spectrin, ankyrin, anion channel protein (Band-3 protein), protein 4.1 and protein 4.2. Conventionally, HS diagnosis is established through a series of tests, which include spherocytes identification in peripheral smear, reticulocyte count, osmotic fragility, etc. Currently, different hematological analyzers provide erythrocyte indicators that estimate the presence of spherocytes and correlate that with HS, which can be useful for disease screening. The most traditional method is the osmotic fragility (OF) test, which is labor-intensive and time-consuming to perform and presents low sensitivity and specificity values. Thus, new methods have been developed for HS diagnosis, such as flow cytometry. Current guidelines recommend the use of flow cytometry as a screening test for HS diagnosis using the eosin-5'-maleimide (EMA) binding test. Thus, HS diagnosis is the result of a collaboration between clinicians and laboratories, who should take into account the family history and the exclusion of other causes of secondary spherocytosis.

  20. Automated reticulocyte parameters for hereditary spherocytosis screening.

    Science.gov (United States)

    Lazarova, Elena; Pradier, Olivier; Cotton, Frédéric; Gulbis, Béatrice

    2014-11-01

    The laboratory diagnosis of hereditary spherocytosis (HS) is based on several screening and confirmatory tests; our algorithm includes clinical features, red blood cell morphology analysis and cryohaemolysis test, and, in case of positive screening, sodium dodecyl sulphate polyacrylamide gel electrophoresis as a diagnostic test. Using the UniCel DxH800 (Beckman Coulter) haematology analyser, we investigated automated reticulocyte parameters as HS screening tool, i.e. mean reticulocyte volume (MRV), immature reticulocyte fraction (IRF) and mean sphered cell volume (MSCV). A total of 410 samples were screened. Gel electrophoresis was applied to 159 samples that were positive for the screening tests. A total of 48 patients were diagnosed as HS, and seven were diagnosed as acquired autoimmune haemolytic anaemia (AIHA). Some other 31 anaemic conditions were also studied. From the receiver operating characteristic (ROC) curve analysis, both delta (mean cell volume (MCV)-MSCV) and MRV presented an area under the curve (AUC) of 0.98. At the diagnostic cut-off of 100 % sensitivity, MRV showed the best specificity of 88 % and a positive likelihood ratio of 8.7. The parameters IRF, MRV and MSCV discriminated HS not only from controls and other tested pathologies but also from AIHA contrary to the cryohaemolysis test. In conclusion, automated reticulocyte parameters might be helpful for haemolytic anaemia diagnostic orientation even for general laboratories. In combination with cryohaemolysis, they ensure an effective and time-saving screening for HS for more specialised laboratories.

  1. Multimodal Imaging in Hereditary Retinal Diseases

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    Francesco Pichi

    2013-01-01

    Full Text Available Introduction. In this retrospective study we evaluated the multimodal visualization of retinal genetic diseases to better understand their natural course. Material and Methods. We reviewed the charts of 70 consecutive patients with different genetic retinal pathologies who had previously undergone multimodal imaging analyses. Genomic DNA was extracted from peripheral blood and genotyped at the known locus for the different diseases. Results. The medical records of 3 families of a 4-generation pedigree affected by North Carolina macular dystrophy were reviewed. A total of 8 patients with Stargardt disease were evaluated for their two main defining clinical characteristics, yellow subretinal flecks and central atrophy. Nine male patients with a previous diagnosis of choroideremia and eleven female carriers were evaluated. Fourteen patients with Best vitelliform macular dystrophy and 6 family members with autosomal recessive bestrophinopathy were included. Seven patients with enhanced s-cone syndrome were ascertained. Lastly, we included 3 unrelated patients with fundus albipunctatus. Conclusions. In hereditary retinal diseases, clinical examination is often not sufficient for evaluating the patient’s condition. Retinal imaging then becomes important in making the diagnosis, in monitoring the progression of disease, and as a surrogate outcome measure of the efficacy of an intervention.

  2. Episodic neurological dysfunction in hereditary peripheral neuropathy

    Directory of Open Access Journals (Sweden)

    Girish Baburao Kulkarni

    2015-01-01

    Full Text Available Episodic transient neurological symptoms are an important set of problems presenting to a neurologist in his routine practice. Occasionally, detailed clinical history including past and family history supplemented with focused examination can bring out a rare cause for such symptoms. We describe in this report in a young male presenting with episodic focal neurological dysfunction, with family history of similar episodes in mother and brother. Examination showed features of pes cavus and peripheral neuropathy for which patient was asymptomatic. Mother and brother were established cases of hereditary neuropathy. Imaging on multiple occasions showed reversible white matter abnormalities. Clinical suspicion of X-linked Charcot-Marie-Tooth disease type 1 (CMT1X was confirmed with detection of mutation in Gap Junction B1 (GJB1 gene, which codes for connexin 32 protein (c.425G>A; p.R142Q hemizygous mutation. Though this mutation has been already reported in CMTX patients, it has not been associated with transient neurological dysfunctions. This is probably the first reported case of CMTX patient with transient neurological dysfunction from India, whose family members had similar episodes.

  3. 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.

  4. Pathogenesis of acidosis in hereditary fructose intolerance.

    Science.gov (United States)

    Richardson, R M; Little, J A; Patten, R L; Goldstein, M B; Halperin, M L

    1979-11-01

    An 18-yr-old man with a classical history of hereditary fructose intolerance (HFI) developed typical biochemical changes following an oral fructose load: fructosemia, hypoglycemia, hypophosphatemia, hyperuricemia, and metabolic acidosis. Hypokalemia (3.1 meq/liter) was also noted. Three aspects of this case expand the published literature on this syndrome: (1) Metabolic acidosis was found to be due to both lactic acidosis and proximal renal tubular acidosis (RTA). We could quantitate the relative contribution of each, and found that urinary bicarbonate loss due to proximal RTA accounted for less than 10% of the fall in serum bicarbonate. The major cause of the metabolic acidosis was lactic acidosis. (2) Hypokalemia was found to be due to movement of potassium out of the extracellular space rather than to urinary loss. Potassium may have entered cells with phosphate or may have been sequestered in the gastrointestinal tract. (3) The coexistence of proximal RTA and acidemia made it possible to study the effect of acidemia on the urine-blood partial pressure of carbon dioxide (PCO2) gradient in alkaline urine (U-B PCO2). The U-B PCO2 measured during acidemia was much higher at the same urine bicarbonate concentration than in normal controls during alkalemia, providing evidence in humans that acidemia stimulates distal nephron hydrogen-ion secretion.

  5. 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

  6. [Designation criteria for Leber's hereditary optic neuropathy].

    Science.gov (United States)

    Nakamura, Makoto; Mimura, Osamu; Wakakura, Masato; Inatani, Masaru; Nakazawa, Toru; Shiraga, Fumio

    2015-05-01

    Designation criteria for Leber's hereditary optic neuropathy (LHON) have been established by a working group for retino-choroidal and optic atrophy funded by the Ministry of Health, Labor, and Welfare (MHLW) of Japan in collaboration with the Japanese Neuro-ophthalmology Society. The criteria are composed of three major symptoms and three ancillary test findings. According to the number and the combination of these symptoms and findings, subjects are classified into definite, probable, and possible LHON cases and asymptomatic carriers. The major symptoms include bilateral involvement with a time-lag, a papillomacular bundle atrophy, both characteristic optic disc findings at the acute phase. In the ancillary testings, mitochondrial DNA mutations specific for LHON are detailed with a table listing the mutation loci being attached. To enhance readers' understanding of description of the major symptoms and ancillary test findings, explanatory remarks on 11 parameters are supplemented. The establishment of the criteria facilitates epidemiological survey of LHON by MHLW and contributes to improvement of welfare for patients with LHON in Japan.

  7. [Hereditary sideroblastic anemia: a rare diagnosis].

    Science.gov (United States)

    Brahem-Jmili, N; Salem, N; Abdelkefi, S; Champ, B Grand; Bekri, S; Sboui, H; Mahjoub, T; Yacoub, S; Kortas, M

    2004-01-01

    Hereditary sideroblastic anemia is a very rare disease recessive and X-linked that affect heme biosynthesis by deficit or decreased of delta aminolevulinic acid synthase (ALAS) activity. We report a case of a six-month-old boy, admitted in the hospital for anemic syndrome. The hemogram showed anemia (hemoglobin: 4.5 g/dL), frankly hypochronic microcytic and a regenerated (mean corpuscular hemoglobin concentration: 26 g/dL, mean cell volume: 53 fl, reticulocytes: 10 x 10(9)/L) with red cells morphologic disorders in smears (anisopoikylocytosis) without attack of the other lineages; white blood cells: 11 x 10(9)/L (neutrophils: 64% and lymphocytes: 35%); platelets: 350 x 10(9)/L. Examination of bone marrow showed an important erythroid hyperplasia (about 69%) with dyserythropoiesis. Perls stain revealed intense siderosis with 90% of ringed sideroblasts and a large number of siderocytes. Exploration of ALAS2 and ABC7 genes on the DNA of the infant was not found abnormalities. Treatment with pyridoxine corrects moderately the anemia. By the way, we proposed to remind that iron deficiency, inflammatory syndrome and thalassemia are the common microcytic anemia. However, it's mandatory to explore other causes if diagnosis is not solved.

  8. Hypercoagulability in hereditary hemorrhagic telangiectasia with epilepsy

    Directory of Open Access Journals (Sweden)

    Josef Finsterer

    2015-01-01

    Full Text Available Recent data indicate that in patients with hereditary hemorrhagic teleangiectasia (HHT, low iron levels due to inadequate replacement after hemorrhagic iron losses are associated with elevated factor-VIII plasma levels and consecutively increased risk of venous thrombo-embolism. Here, we report a patient with HHT, low iron levels, elevated factor-VIII, and recurrent venous thrombo-embolism. A 64-year-old multimorbid Serbian gipsy was diagnosed with HHT at age 62 years. He had a history of recurrent epistaxis, teleangiectasias on the lips, renal and pulmonary arterio-venous malformations, and a family history positive for HHT. He had experienced recurrent venous thrombosis (mesenteric vein thrombosis, portal venous thrombosis, deep venous thrombosis, insufficiently treated with phenprocoumon during 16 months and gastro-intestinal bleeding. Blood tests revealed sideropenia and elevated plasma levels of coagulation factor-VIII. His history was positive for diabetes, arterial hypertension, hyperlipidemia, smoking, cerebral abscess, recurrent ischemic stroke, recurrent ileus, peripheral arterial occluding disease, polyneuropathy, mild renal insufficiency, and epilepsy. Following recent findings, hypercoagulability was attributed to the sideropenia-induced elevation of coagulation factor-VIII. In conclusion, HHT may be associated with hypercoagulability due to elevated factor-VIII associated with low serum iron levels from recurrent bleeding. Iron substitution may prevent HHT patients from hypercoagulability.

  9. 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.

  10. Capacity of straylight and disk halo size to diagnose cataract.

    Science.gov (United States)

    Palomo-Álvarez, Catalina; Puell, María C

    2015-10-01

    To examine the capacity of straylight and disk halo size to diagnose cataract. Faculty of Optics and Optometry, Universidad Complutense de Madrid, Spain. Prospective study. Straylight, disk halo radius, and high-contrast corrected distance visual acuity (CDVA) measurements were compared between patients with age-related cataract and age-matched normal-sighted control subjects by calculating the area under the curve (AUC) receiver operating characteristic. Measurements were made in 53 eyes of 53 patients with a mean age of 67.94 years ± 7.11 (SD) and 31 eyes of 31 controls with a mean age 66.06 ± 5.43 years. Significantly worse (P < .001) mean straylight (1.38 ± 0.24 log[s]), mean disk halo radius (2.40 ± 0.18 log minutes of arc [arcmin]), and mean CDVA (0.17 ± 0.11 logMAR) were recorded in the cataract group than in the control group (1.17 ± 0.11 log[s], 2.10 ± 0.16 log arcmin, and 0.08 ± 0.08 logMAR). Significant differences in AUCs were observed for disk halo radius (0.89 ± 0.04) versus straylight (0.77 ± 0.05) (P = .03) and disk halo radius versus CDVA (0.72 ± 0.05) (P = .001). The comparison of disk halo radius versus the discriminant function with input from CDVA and straylight (0.80 ± 0.05) was at the limit of significance only (0.091 ± 0.05, P = .051). Although all 3 variables discriminated well between normal eyes and eyes with cataract, the disk halo radius showed the best diagnostic capacity. Neither author has a financial or proprietary interest in any material or method mentioned. Copyright © 2015 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  11. Total antioxidant capacity in Eales’ disease, uveitis & cataract

    OpenAIRE

    Selvi, Radhakrishnan; Angayarkanni, Narayanasamy; Biswas, Jyotirmay; Ramakrishnan, Sivaramakrishnan

    2011-01-01

    Background & objectives: The human system possesses antioxidants that act harmoniously to neutralize the harmful oxidants. This study was aimed to evaluate the serum total antioxidant capacity (TAC) as a single parameter in Eales’ disease (ED) and in an acute inflammatory condition such as uveitis and in cataract which is chronic, compared to healthy controls. Methods: The TAC assay was done spectrophotometrically in the serum of Eales’ disease cases (n=20) as well as in other ocular patholog...

  12. EXPERIMENTAL STUDY ON THE CORNEAL ENDOTHELIUM OF TRAUMATIC CATARACT

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

    The cell morphology of corneal endothelium in 84 mice with experimental traumatic cataract was investigated with stained corneal buttons. In the experimental group, the boundaries between adjacent corneal endothelial cells were significantly distorted, some cell boundaries manifested degenerative changes that led to coalescence of the cells. The mean density and mean area of endothelial cells of the controls showed significant difference from those of the experimental group during the 12 weeks of observ...

  13. Cirurgia da catarata infantil unilateral Unilateral pediatric cataract surgery

    Directory of Open Access Journals (Sweden)

    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.

  14. Phacoemulsification in hard cataracts: the "chop, trip and free" technique

    OpenAIRE

    José Marcos S. Gonçalves

    2004-01-01

    Very hard cataracts continue to be a challenge to phacoemulsification due to the difficulty in breaking the nucleus and also in separating the broken nucleus from the adjacent epinucleus. The present technique is the presentation of a surgical maneuver which uses the Nagahara chopper and the phaco tip to divide the nucleus (including the epinucleus) as a whole and then emulsify it using little time and not very much phaco power.

  15. Resident surgeon efficiency in femtosecond laser-assisted cataract surgery

    Directory of Open Access Journals (Sweden)

    Pittner AC

    2017-01-01

    Full Text Available Andrew C Pittner,1 Brian R Sullivan2 1Department of Ophthalmology, Stritch School of Medicine, Loyola University Chicago, Maywood, 2Edward Hines Jr VA Hospital, Ophthalmology Section, Hines, IL, USA Purpose: Comparison of resident surgeon performance efficiencies in femtosecond laser-assisted cataract surgery (FLACS versus conventional phacoemulsification.Patients and methods: A retrospective cohort study was conducted on consecutive patients undergoing phacoemulsification cataract surgery performed by senior ophthalmology residents under the supervision of 1 attending physician during a 9-month period in a large Veterans Affairs medical center. Medical records were reviewed for demographic information, preoperative nucleus grade, femtosecond laser pretreatment, operative procedure times, total operating room times, and surgical complications. Review of digital video records provided quantitative interval measurements of core steps of the procedures, including completion of incisions, anterior capsulotomy, nucleus removal, cortical removal, and intraocular lens implantation.Results: Total room time, operation time, and corneal incision completion time were found to be significantly longer in the femtosecond laser group versus the traditional phacoemulsification group (each P<0.05. Mean duration for manual completion of anterior capsulotomy was shorter in the laser group (P<0.001. There were no statistically significant differences in the individual steps of nucleus removal, cortical removal, or intraocular lens placement. Surgical complication rates were not significantly different between the groups.Conclusion: In early cases, resident completion of femtosecond cataract surgery is generally less efficient when trainees have more experience with traditional phacoemulsification. FLACS was found to have a significant advantage in completion of capsulotomy, but subsequent surgical steps were not shorter or longer. Resident learning curve for the

  16. Geriatric vision loss due to cataracts, macular degeneration, and glaucoma.

    Science.gov (United States)

    Eichenbaum, Joseph W

    2012-01-01

    The major causes of impaired vision in the elderly population of the United States are cataracts, macular degeneration, and open-angle glaucoma. Cataracts and macular degeneration usually reduce central vision, especially reading and near activities, whereas chronic glaucoma characteristically attacks peripheral vision in a silent way, impacting balance, walking, and driving. Untreated, these visual problems lead to issues with regard to taking medications, keeping track of finances and personal information, walking, watching television, and attending the theater, and often create social isolation. Thus, visually impaired individuals enter nursing homes 3 years earlier, have twice the risk of falling, and have 4× the risk of hip fracture. Consequently, many elderly with low vision exercise greater demands on community services. With the prospect of little improvement and sustained visual loss, in the face of poor tolerance of low-vision services and not accepting magnification as the only way to read, clinical depression is common. In many instances, however, early and accurate diagnosis can result in timely treatment and can preserve quality of life. This review will look at current diagnostic and therapeutic considerations. Currently, about 20.5 million people in the United States have cataracts. The number will reach 30 million by 2020. About 1.75 million Americans currently have some form of macular degeneration, and the number is estimated to increase to 2.95 million in 2020. Approximately 2.2 million Americans have glaucoma, and by 2020 that number is estimated to be close to 3.4 million people. It is projected that by 2030 there will be 72.1 million seniors. With some overlap of the above 3 groups conservatively estimated (if you add the 2030 cataract group to the macular degeneration and glaucoma groups), then about 1 in 2 senior individuals by 2030 may have some significant ocular disease, which could account for about 50% of the healthcare budget for the

  17. 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.

  18. 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.

  19. Hereditary pancreatitis and secondary screening for early pancreatic cancer.

    Science.gov (United States)

    Vitone, L J; Greenhalf, W; Howes, N R; Neoptolemos, J P

    2005-01-01

    Hereditary pancreatitis is an autosomal dominant disease with incomplete penetrance (80%), accounting for approximately 1% of all cases of pancreatitis. It is characterized by the onset of recurrent attacks of acute pancreatitis in childhood and frequent progression to chronic pancreatitis. Whitcomb et al. identified the cationic trypsinogen gene (PRSS1) on chromosome 7q35 as the site of the mutation that causes hereditary pancreatitis. The European registry of hereditary pancreatitis and familial pancreatic cancer (EUROPAC) aims to identify and make provisions for those affected by hereditary pancreatitis and familial pancreatic cancer. The most common mutations in hereditary pancreatitis are R122H, N29I and A16V but many families have been described with clinically defined hereditary pancreatitis where there is no PRSS1 mutation. It is known that the cumulative lifetime risk (to age 70 years) of pancreatic cancer is 40% in individuals with hereditary pancreatitis. This subset of individuals form an ideal group for the development of a screening programme aimed at detecting pancreatic cancer at an early stage in an attempt to improve the presently poor long-term survival. Current screening strategies involve multimodality imaging (computed tomography, endoluminal ultrasound) and endoscopic retrograde cholangiopancreatography for pancreatic juice collection followed by molecular analysis of the DNA extracted from the juice. The potential benefit of screening (curative resection) must be balanced against the associated morbidity and mortality of surgery. Philosophically, the individual's best interest must be sought in light of the latest advances in medicine and science following discussions with a multidisciplinary team in specialist pancreatic centres.

  20. 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