Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene.

abstract：PURPOSE:To describe the spectral domain-optical coherence tomography (SD-OCT) findings of two patients with complete defects in the retinal pigment epithelium (RPE) with disruptions in Bruch membrane in Stargardt disease (STGD1). METHODS:Two patients with STGD1 were referred to our clinic for further evaluation. Fundu...

journal_title：Ophthalmic genetics

authors： Park SP,Chang S,Allikmets R,Smith RT,Burke TR,Gregory-Roberts E,Tsang SH

更新日期：2012-03-01 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：PURPOSE:To determine the cause of Leber congenital amaurosis (LCA) in a consanguineous Emirati family. METHODS:The clinical diagnosis was made on the basis of medical history, ophthalmoscopy and standard ERG. The diagnosis was confirmed by molecular genetic analysis of known LCA genes by Next-Generation Sequencing (NG...

journal_title：Ophthalmic genetics

authors： Fakhratova M

更新日期：2013-12-01 00:00:00

abstract：:We present six patients with typical Hallermann-Streiff syndrome. All have microphthalmia and were operated for congenital cataract. Three of the patients developed a severe glaucoma and one patient presented repeated uveal effusions. Five of our patients have the same pattern of corneal stromal opacities. The opaciti...

journal_title：Ophthalmic genetics

authors： Roulez FM,Schuil J,Meire FM

更新日期：2008-06-01 00:00:00

abstract：PURPOSE:Genetic factors are shown to have a role in the development of primary open-angle glaucoma (POAG). The aim of this study was to determine the effects of genetic polymorphisms of Rho-kinase (ROCK) genes on the risk of POAG in a Turkish population. METHODS:Genomic DNA was extracted from leukocytes of the periphe...

journal_title：Ophthalmic genetics

authors： Demiryürek S,Okumus S,Bozgeyik İ,Oztuzcu S,Coskun E,Mat E,Durucu E,Tatar MG,Erbagci İ,Gürler B,Demiryürek AT

更新日期：2016-01-01 00:00:00

abstract：:Clinical findings of a 2.5-year-old girl presenting with barely detectable horizontal nystagmus and high hypermetropia are described. Despite the normal appearing anterior segments, the child had posterior microphthalmus and bilateral papillomacular retinal folds, conforming to a recently described, rare congenital di...

journal_title：Ophthalmic genetics

authors： Kiratli H,Tümer B,Kadayifçilar S

更新日期：2000-09-01 00:00:00

abstract：PURPOSE:To characterize the underlying genetic defect in otherwise healthy Saudi newborns with buphthalmos, including those with iris abnormalities. METHODS:Prospective case series of affected Saudi Arabian probands who were referred for genetic counseling over a 4 year period. All had CYP1B1 sequencing. Selected pati...

journal_title：Ophthalmic genetics

authors： Khan AO,Aldahmesh MA,Al-Abdi L,Mohamed JY,Hashem M,Al-Ghamdi I,Alkuraya FS

更新日期：2011-09-01 00:00:00

abstract：BACKGROUND:Cilioretinal arteries (CAs) represent enlargements of microscopic and early established collaterals formed via vasculogenesis between choroidal and retinal circulations. We aimed to investigate whether genetic tendency to thrombosis due to well-known gene polymorphisms may induce CA vasculogenesis in embryon...

journal_title：Ophthalmic genetics

authors： Yilmaz S,Ardagil A,Akalin I,Altinel MG,Dag Y,Kurum E,Koyun E,Ari Yaylali S,Bayramlar H

更新日期：2017-09-01 00:00:00

abstract：:Aicardi syndrome was originally described as a triad of partial or complete agenesis of the corpus callosum, infantile spasms, and pathognomic chorioretinal lacunae. Of approximately 200 cases reported since it was originally described in 1965, there have been no undisputed reports of Aicardi syndrome in a 46 XY male....

journal_title：Ophthalmic genetics

authors： Chappelow AV,Reid J,Parikh S,Traboulsi EI

更新日期：2008-12-01 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：:Background: Patients with intellectual disability syndromes frequently have coexisting abnormalities of ocular structures and the visual pathway system. The microphthalmos, anophthalmos, and coloboma (MAC) spectrum represent structural developmental eye defects that occur as part of a syndrome in one-third of cases. O...

journal_title：Ophthalmic genetics

authors： Mameesh MM,Al-Kindy A,Al-Yahyai M,Ganesh A

更新日期：2019-12-01 00:00:00

abstract：:Background: The extensive phenotypic heterogeneity of monogenic diseases can be largely traced to intragenic variation; however, recent advances in clinical detection and gene sequencing have uncovered the emerging role of non-allelic variation (i.e. genetic trans-modifiers) in shaping disease phenotypes. Identifying ...

journal_title：Ophthalmic genetics

authors： Lee W,Paavo M,Zernant J,Stong N,Laurente Z,Bearelly S,Nagasaki T,Tsang SH,Goldstein DB,Allikmets R

更新日期：2019-08-01 00:00:00

abstract：:Background: Classical MMA, caused by methylmalonyl-CoA mutase deficiency, may result in late-onset dysfunction in several organ systems. To date, 10 cases of optic neuropathy have been reported. The prevalence of optic neuropathy in visually asymptomatic patients has not been determined. This study sought to identify ...

journal_title：Ophthalmic genetics

authors： AlOwain M,Khalifa OA,Al Sahlawi Z,Hussein MH,Sulaiman RA,Al-Sayed M,Rahbeeni Z,Al-Hassnan Z,Al-Zaidan H,Nezzar H,Al Homoud I,Eldali A,Altonen B,Handoom BS,Mbekeani JN

更新日期：2019-08-01 00:00:00

abstract：:Mutations in the peripherin/RDS gene have been identified in families with various retinopathies including those affecting primarily the macula and those restricted to the retinal periphery. Here, we describe the clinical findings of two sisters with late-onset central areolar choroidal dystrophy (CACD). The two sibli...

journal_title：Ophthalmic genetics

authors： Keilhauer CN,Meigen T,Stöhr H,Weber BH

更新日期：2006-12-01 00:00:00

abstract：BACKGROUND:Fuchs' endothelial corneal dystrophy (FECD) is a complex degenerative disease of the corneal endothelium with genetic predisposition. Pathogenic rare variants have been identified in SLC4A11, LOXHD1, ZEB1, and AGBL1. Association of single nucleotide polymorphisms (SNPs) and CTG trinucleotide repeat expansion...

journal_title：Ophthalmic genetics

authors： Rao BS,Ansar S,Arokiasamy T,Sudhir RR,Umashankar V,Rajagopal R,Soumittra N

更新日期：2018-08-01 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：:Etiological investigation of a 15-year-old boy with left ophthalmic artery occlusion led us to a diagnosis of neurofibromatosis type I as there were numerous large cafe-au-lait spots, axillary freckling, and brain MRI changes consistent with a hamartoma. In light of the present case, ophthalmic artery occlusion may be...

journal_title：Ophthalmic genetics

authors： Saatci AO,Saylam GS,Yasti ZO,Söylev M,Saatci I,Kavukçu S,Memişoğlu B

更新日期：1998-06-01 00:00:00

abstract：:Background: The present study aims to identify the underlying genetic defects in a Chinese family with autosomal dominant congenital cataracts (ADCC). Methods: Detailed family histories and clinical data were recorded. Targeted exome sequencing of 54 known cataract-associated genes combined with high-throughput next-g...

journal_title：Ophthalmic genetics

authors： Yu Y,Xu J,Qiao Y,Li J,Yao K

更新日期：2020-12-04 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：OBJECTIVES:Williams-Beuren Syndrome (WBS) is a multisystem disorder caused by the deletion of contiguous genes on chromosome 7q11.23. Ophthalmologic abnormalities and deficits in visual motor integration are important features of WBS. Here we describe our experience with Brazilian WBS patients and their ophthalmologic ...

journal_title：Ophthalmic genetics

authors： Viana MM,Frasson M,Galvão H,Leão LL,Stofanko M,Gonçalves-Dornelas H,da Silva Cunha P,Burle de Aguiar MJ

更新日期：2015-01-01 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：BACKGROUND:Age-related macular degeneration is the leading cause of blindness in elderly individuals in developed countries. The etiology and pathophysiology of age-related macular degeneration have not been elucidated yet. Knowing that the main pathological change of age-related macular degeneration is formation of dr...

journal_title：Ophthalmic genetics

authors： Stasiukonyte N,Liutkeviciene R,Vilkeviciute A,Banevicius M,Kriauciuniene L

更新日期：2017-07-01 00:00:00

abstract：:A genetic register for inherited retinal degenerative disorders (RDDs) has been established at the Division of Human Genetics, UCT Medical School, Cape Town, South Africa. The primary role of the register is to monitor the progress of molecular research and to facilitate the efficient delivery of services, including g...

journal_title：Ophthalmic genetics

authors： Rebello MT,Greenberg LJ,Ramesar RS

更新日期：2002-03-01 00:00:00

abstract：PURPOSE:to report phenotypic and genotypic features in a group of autosomal recessive retinitis pigmentosa (arRP) patients associated with EYS mutations. METHODS:we retrospectively reviewed the clinical records and the molecular genetic data of arRP patients carrying mutations in the EYS gene. All the patients underwe...

journal_title：Ophthalmic genetics

authors： Mucciolo DP,Sodi A,Passerini I,Murro V,Cipollini F,Borg I,Pelo E,Contini E,Virgili G,Rizzo S

更新日期：2018-10-01 00:00:00

abstract：BACKGROUND:Wagner vitreoretinopathy (WVR) is a rare non-syndromic autosomal dominant inherited vitreoretinopathy. We studied the phenotypes of two Chinese families with WVR and identified the pathogenic variants. MATERIALS AND METHODS:Four affected individuals were involved in this study. Three of them underwent detai...

journal_title：Ophthalmic genetics

authors： Li H,Li H,Yang L,Sun Z,Wu S,Sui R

更新日期：2020-10-01 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：PURPOSE:To clinically characterize a Swedish family with autosomal dominant retinitis pigmentosa due to a mutation, Arg-172-Trp, in the peripherin/RDS gene. METHODS:Full clinical evaluation including kinetic visual field testing, measurement of dark-adaptation threshold, and full-field electroretinography in seven pat...

journal_title：Ophthalmic genetics

authors： Ekström U,Andréasson S,Ponjavic V,Abrahamson M,Sandgren O,Nilsson-Ehle P,Ehinger B

更新日期：1998-09-01 00:00:00

abstract：BACKGROUND:Posterior column ataxia retinitis pigmentosa (PCARP) with feline leukemia virus subgroup C cellular receptor 1 (FLVCR1) gene mutation is a rare disorder with significant ophthalmic features. MATERIALS AND METHODS:We conducted a retrospective case series study of patients diagnosed with PCARP and genetic tes...

journal_title：Ophthalmic genetics

authors： Lee J,Scanga HL,Dansingani KK,Taubenslag KJ,Zlotcavitch L,Chauhan BK,Sylvester CL,Morton DH,Nischal KK

更新日期：2018-12-01 00:00:00

abstract：BACKGROUND:Diabetic retinopathy (DR) is a severe complication of diabetes and a common cause of visual loss in adults. We aimed to assess the correlation between IL gene-related SNPs and the incidence of DR and attempted to predict DR with combined mutation site detection. METHODS:A systematic search of databases was ...

journal_title：Ophthalmic genetics

authors： Sun X,Guo S

更新日期：2020-06-01 00:00:00

abstract：BACKGROUND:Axenfeld-Rieger syndrome is characterized by a spectrum of anterior segment dysgenesis involving neural-crest-derived tissues, most commonly secondary to mutations in the transcription factor genes PITX2 and FOXC1. MATERIALS AND METHODS:Single retrospective case report. RESULTS:A full-term infant presented...

journal_title：Ophthalmic genetics

authors： Kletke SN,Vincent A,Maynes JT,Elbaz U,Mireskandari K,Lam WC,Ali A

更新日期：2020-08-01 00:00:00