Stickler's syndrome associated with congenital glaucoma.

abstract：PURPOSE:Glaucoma is the second leading cause of blindness. In India, approximately 1.5 million people are blind due to glaucoma. Mutations in the MYOC gene located at the GLC1A locus on chromosome 1q21-q31 have been found in patients with juvenile-onset primary open-angle glaucoma (J-POAG). The purpose of the present s...

journal_title：Ophthalmic genetics

authors： Markandaya M,Ramesh TK,Selvaraju V,Dorairaj SK,Prakash R,Shetty J,Kumar A

更新日期：2004-03-01 00:00:00

abstract：:Background: Hydroxychloroquine retinal toxicity can occur in up to 7.5% of patients receiving treatment; however, possible genetic risk factors are poorly understood. The main objective of the study was to explore candidate genetic risk factors for retinal toxicity.Materials and Methods: Case-control study of patients...

journal_title：Ophthalmic genetics

authors： Mack HG,Kowalski T,Lucattini A,Symons RA,Wicks I,Hall AJ

更新日期：2020-04-01 00:00:00

abstract：:We present the clinical and molecular genetic features of a large multi-generation Norwegian family with dominant cone-rod dystrophy. Ophthalmological evaluation including electroretinography showed cone dysfunction in younger patients, with rod dysfunction becoming apparent at more advanced stages of the disease. In ...

journal_title：Ophthalmic genetics

authors： Van Ghelue M,Eriksen HL,Ponjavic V,Fagerheim T,Andréasson S,Forsman-Semb K,Sandgren O,Holmgren G,Tranebjaerg L

更新日期：2000-12-01 00:00:00

abstract：INTRODUCTION:Diagnostic next generation sequencing (NGS) services for patients with inherited retinal diseases (IRD) traditionally use gene panel based approaches, which have cost and resource implications. Phenotype-based gene panels use a targeted strategy with further testing protocols, if initial results are negati...

journal_title：Ophthalmic genetics

authors： Shah M,Shanks M,Packham E,Williams J,Haysmoore J,MacLaren RE,Németh AH,Clouston P,Downes SM

更新日期：2020-08-01 00:00:00

abstract：:Aarskog syndrome (faciogenital dysplasia) is an X-linked recessive genetic growth disorder characterized by short stature, dysmorphic facies, shawl scrotum, and digital anomalies. The condition was first described in 1970 and the gene responsible is FGD1 (MIM#305400). There are several reported ophthalmic findings ass...

journal_title：Ophthalmic genetics

authors： Jogiya A,Sandy C

更新日期：2005-09-01 00:00:00

abstract：BACKGROUND:Microphthalmia, anophthalmia, coloboma (MAC) complex is a spectrum of ocular abnormalities that occur in isolation or as part of a syndrome. Genetic abnormalities have been shown to account for 80% of cases in bilateral anophthalmia or severe microphthalmia, where 25-30% were attributed to chromosomal defect...

journal_title：Ophthalmic genetics

authors： Leung KCP,Ko TCS

更新日期：2020-08-01 00:00:00

abstract：PURPOSE:The associations between genetic variants located in CFH, CFB, ARMS2 and HTRA1 and the risk of age-related macular degeneration (AMD) in a northern Chinese population were investigated. METHODS:A case-control association study of 150 AMD patients and 145 ethnicity- and gender-matched controls were recruited. G...

journal_title：Ophthalmic genetics

authors： Zhuang W,Li H,Liu Y,Zhao J,Ha S,Xiang W,Bai X,Li Z,Han Y,Sheng X

更新日期：2014-09-01 00:00:00

abstract：PURPOSE:To identify mutations in the RDH5 gene in a family with a mother having fundus albipunctatus (FA) and 3 children with retinitis pigmentosa (RP). METHODS:Ophthalmological examinations were performed to diagnose FA and RP. Mutational analysis of RDH5 was performed. RESULTS/CONCLUSIONS:The mother was diagnosed w...

journal_title：Ophthalmic genetics

authors： Wang C,Nakanishi N,Ohishi K,Hikoya A,Koide K,Sato M,Nakamura M,Hotta Y,Minoshima S

更新日期：2008-03-01 00:00:00

abstract：:Because mutations in the peripherin/RDS gene have been found in retinal dystrophies involving the macula, we examined various types of macular dystrophies from southern France to characterize sequence variations that may be associated with these conditions. DNA sequence analysis of the full coding and flanking regions...

journal_title：Ophthalmic genetics

authors： Bareil C,Hamel C,Arnaud B,Demaille J,Claustres M

更新日期：1997-09-01 00:00:00

abstract：:When encountering patients with markedly dilated and tortuous retinal vessels, Wyburn-Mason syndrome (WMS) or racemous angiomatosis (phacomatosis) is commonly thought of as the archetypal entity that can produce these findings. We describe a patient with Cantu syndrome with phenotypical findings identical to those see...

journal_title：Ophthalmic genetics

authors： Kisilevsky E,Kohly RP,Margolin EA

更新日期：2019-10-01 00:00:00

abstract：PURPOSE:To identify the mutation in the RB1 gene in a Syrian family showing incomplete penetrance of retinoblastoma (RB). METHODS:Genomic DNA was used as a template for the PCR reaction to amplify all exons as well as the promoter region of RB1 gene. These PCR products were screened by conformational sensitive gel ele...

journal_title：Ophthalmic genetics

authors： Ahmad NN,Melo MB,Singh AD,Donoso LA,Shields JA

更新日期：1999-12-01 00:00:00

abstract：:Objectives: Optic neuritis (ON) is defined as inflammation of the optic nerve, which is mostly idiopathic. However, it can be associated with various causes (demyelinating lesions, autoimmune disorders, infectious and inflammatory conditions). Inflammatory demyelinating disorder of the optic nerve can be associated wi...

journal_title：Ophthalmic genetics

authors： Gedvilaite G,Vilkeviciute A,Kriauciuniene L,Asmoniene V,Liutkeviciene R

更新日期：2019-06-01 00:00:00

abstract：:A Swedish family with choroideremia and a deletion of the CHM gene has been studied with ophthalmological examination, full-field electroretinography, and DNA analysis in order to characterize the phenotype of the disease. Although all four patients studied had a complete deletion of the gene, they showed a considerab...

journal_title：Ophthalmic genetics

authors： Ponjavic V,Abrahamson M,Andréasson S,Van Bokhoven H,Cremers FP,Ehinger B,Fex G

更新日期：1995-12-01 00:00:00

abstract：BACKGROUND:Mutation in eye developmental genes has been reported to cause anophthalmia and microphthalmia. However, in India, especially in the Western Indian population, such reports are scarce. Hence, the present study aims to investigate mutations in 15 ocular developmental genes in patients with anophthalmia and mi...

journal_title：Ophthalmic genetics

authors： Vidya NG,Rajkumar S,Vasavada AR

更新日期：2018-06-01 00:00:00

abstract：:Background: Inherited retinal dystrophies are a leading cause of irreversible blindness in children in the United States. Topical carbonic anhydrase inhibitors have improved central vision and cystoid macular edema in patients with retinal dystrophies, but few studies have assessed their efficacy in children. Material...

journal_title：Ophthalmic genetics

authors： Scruggs BA,Chen CV,Pfeifer W,Wiley JS,Wang K,Drack AV

更新日期：2019-08-01 00:00:00

abstract：:DNA samples are the fundamental research substrate in genetics. Although methodology and cost-effectiveness in molecular biology have improved dramatically, collecting biological samples and extracting DNA continue to be expensive and time-consuming steps of genetic research. This article reviews the issues surroundin...

journal_title：Ophthalmic genetics

authors： Dickinson JL,Sale MM,Craig JE,Mackey DA

更新日期：2001-03-01 00:00:00

abstract：INTRODUCTION:Branchio-Oculo-Facial Syndrome (BOFS) is a rare autosomal dominant congenital disorder defined by branchial defects, ocular anomalies and craniofacial malformations, including variable degrees of cleft lip with or without cleft palate. In addition, temporal bone anomalies, renal and ectodermal manifestatio...

journal_title：Ophthalmic genetics

authors： Aliferis K,Stoetzel C,Pelletier V,Hellé S,Angioï-Duprez K,Vigneron J,Leheup B,Marion V,Dollfus H

更新日期：2011-11-01 00:00:00

abstract：PURPOSE:To perform genotype-phenotype correlations in a family with choroideremia. METHODS:A three-generation family with two affected males and five carriers was the subject of the study. Molecular genetic analysis using single-strand conformation polymorphism analysis (SSCP) was conducted in all subjects, while elec...

journal_title：Ophthalmic genetics

authors： Rudolph G,Preising M,Kalpadakis P,Haritoglou C,Lang GE,Lorenz B

更新日期：2003-12-01 00:00:00

abstract：:The authors reviewed the charts of 22 patients with Peters' anomaly. Various surgical procedures were performed on 30 eyes of 18 patients (mean number of procedures = 3.3 per eye). Follow-up averaged six years. Visual acuity varied widely, with six eyes having an acuity of 20/400 or better, and 11 eyes with no light p...

journal_title：Ophthalmic genetics

authors： Gollamudi SR,Traboulsi EI,Chamon W,Stark WJ,Maumenee IH

更新日期：1994-03-01 00:00:00

abstract：:Introduction: Mutations in Kizuna (KIZ), a gene involved in ciliary function, have been previously associated with rod-cone dystrophy with relative macular sparing and a number of other systemic abnormalities.Purpose: We present a patient with a phenotype dominated by retinal dystrophy and macular cysts as a result of...

journal_title：Ophthalmic genetics

authors： Zhao Y,Coussa RG,DeBenedictis MJM,Traboulsi EI

更新日期：2019-10-01 00:00:00

abstract：:A 6-month-old boy presented with a congenital eye movement disorder consistent with congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Mutational analysis confirmed the most common mutation in the CFEOM1 gene KIF21A. In addition to the typical findings in CFEOM1, distinctive conjunctival changes and small...

journal_title：Ophthalmic genetics

authors： Flaherty MP,Balachandran C,Jamieson R,Engle EC

更新日期：2009-06-01 00:00:00

abstract：BACKGROUND:A Chinese family with X-linked juvenile retinoschisis (XLRS) was identified. The purpose of this study was to identify genetic defects in this family and to investigate the visual function during the progression of the disease in the proband from childhood to adulthood. METHODS:The family history was collec...

journal_title：Ophthalmic genetics

authors： Xu F,Sui R,Dong F

更新日期：2012-06-01 00:00:00

abstract：:A new syndrome with abnormalities along the first branchial arch and the milk list is described in a family of four affected generations. The characteristics of the syndrome are epibulbar lipodermoids, preauricular appendages and polythelia. The expressivity varies but all affected have supernumerary nipples and preau...

journal_title：Ophthalmic genetics

authors： Goldschmidt E,Jacobsen N

更新日期：2010-06-01 00:00:00

abstract：:The autoinflammatory syndromes are rare inherited disorders characterized by recurrent attacks of multi-system inflammation caused by genetic mutations that result in abnormal upregulation of key innate immune mediators. The term autoinflammatory syndromes includes a broad variety of disorders, including cryopyrin-ass...

journal_title：Ophthalmic genetics

authors： Tarabishy AB,Hise AG,Traboulsi EI

更新日期：2012-12-01 00:00:00

abstract：PURPOSE:To determine the impact of subtle differences (most notably in their classification of group E eyes) in two published versions of the ICRB (Philadelphia and the Children's Hospital Los Angeles). METHODS:Analysis of a series of 96 eyes with intra-ocular retinoblastoma. RESULTS:The disparate criteria of the 2 p...

journal_title：Ophthalmic genetics

authors： Novetsky DE,Abramson DH,Kim JW,Dunkel IJ

更新日期：2009-03-01 00:00:00

abstract：PURPOSE:To present a boy with unilateral duplication of the eye. METHOD:The case history is described from the first visit at birth to the age of 14 years. RESULTS:A review of the literature shows that this malformation is compatible with life although malformations of the brain and epilepsy have been reported in all...

journal_title：Ophthalmic genetics

authors： Jensen H,Pedersen SA,Jensen OA,Herning M,Warburg M

更新日期：2007-06-01 00:00:00

abstract：BACKGROUND:Alström syndrome is a rare genetic ciliopathy caused by a mutation in the ALMS1 gene. The syndrome is characterized by cone-rod dystrophy, dilated myocardiopathy, childhood obesity and sensorineural hearing loss. To date, cystoid macular edema has not been reported. METHODS:A female affected by Alström synd...

journal_title：Ophthalmic genetics

authors： Larrañaga-Fragoso P,Pastora N,Bravo-Ljubetic L,Peralta J,Abelairas-Gómez J

更新日期：2016-12-01 00:00:00

abstract：:Purposes: To describe the long-term follow-up of a patient affected by Pseudoxanthoma Elasticum (PXE) and acquired macular vitelliform lesions in both eyes. Material and methods: Case report Results: We reported the 9-year follow-up of a patient affected by PXE. We described the onset and the resolution of the vitelli...

journal_title：Ophthalmic genetics

authors： Murro V,Mucciolo DP,Giorgio D,Sodi A,Boraldi F,Quaglino D,Virgili G,Rizzo S

更新日期：2019-08-01 00:00:00

abstract：OBJECTIVE:To describe the clinical and electrophysiological characterization of four family members from three generations who have X-linked infantile periodic alternating nystagmus (XIPAN). METHODS:Complete clinical ophthalmological evaluation, pedigree analysis, electroretinograms (ERG), eye movement recordings (EMR...

journal_title：Ophthalmic genetics

authors： Hertle RW,Yang D,Kelly K,Hill VM,Atkin J,Seward A

更新日期：2005-06-01 00:00:00

abstract：BACKGROUND:Glaucoma is considered as a neurodegenerative disorder in which the optic nerve damage leads to irreversible blindness. Many scientific findings indicate miRNA implication in the neurodegeneration process. In this study, we aimed to evaluate the polymorphic variants of miRNA processing genes, RAN (rs14035) a...

journal_title：Ophthalmic genetics

authors： Molasy M,Walczak A,Przybyłowska-Sygut K,Zaleska-Żmijewska A,Szaflik J,Szaflik JP,Majsterek I

更新日期：2018-04-01 00:00:00