Genetic susceptibility to hydroxychloroquine retinal toxicity.

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：: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：:Ligneous conjunctivitis is an uncommon and recurrent type of chronic conjunctivitis. A prevalent cause of this disease is a Plasminogen deficiency, resulting from recessive mutations in the human encoding plasminogen (PLG) gene. This deficiency affects the conjunctiva and also other mucous membranes. Only few hundred ...

journal_title：Ophthalmic genetics

authors： Raimann R,Moya R,Anguita R,Kobus R,Pérez M,Gonzalez P

更新日期：2018-10-01 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：:Background: Retinitis punctate albescens (RPA) is a rare form of retinal dystrophy characterized by congenital stationary night blindness and a characteristic fundus appearance. Missense or nonsense mutations in RDH5 in homozygous or heterozygous state have been implicated in RPA.Material and methods: Two consanguineo...

journal_title：Ophthalmic genetics

authors： Khan R,Shabbir RMK,Raza I,Abdullah U,Naeem MA,Ahmed A,Malik S,Hu Z,Xia K

更新日期：2020-02-01 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：PURPOSE:To characterize the phenotype of two families with high hypermetropia from the Faroe Islands. METHODS:Ophthalmologic evaluation including ultrasound oculometry and anthropometric measurements. RESULTS:Of the 40 examined family members, 15 individuals (8 males, 7 females; ages: 6-77 years; mean: 36.5 years) ha...

journal_title：Ophthalmic genetics

authors： Fuchs J,Holm K,Vilhelmsen K,Rosenberg T,Scherfig E,Fledelius HC

更新日期：2005-03-01 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：: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: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:Age-related macular degeneration (ARMD), a progressive retinal disease, is responsible for an impaired central vision in about 180 million people worldwide. Current options for ARMD prevention and treatment are limited due to an incomplete understanding of disease etiopathogenesis. We aimed to test the hypot...

journal_title：Ophthalmic genetics

authors： Stanislovaitiene D,Zaliuniene D,Krisciukaitis A,Petrolis R,Smalinskiene A,Lesauskaite V,Tamosiunas A,Lesauskaite V

更新日期：2017-05-01 00:00:00

abstract：BACKGROUND:A number of mutations in the VSX1 and SOD1 genes have been reported to be associated with keratoconus (KC), however the results from different studies are controversial. In this study, we conducted the genotyping of common polymorphisms [VSX1: D144E, H244R, R166W, G160D; SOD1: intronic 7-base deletion (c.169...

journal_title：Ophthalmic genetics

authors： Moschos MM,Kokolakis N,Gazouli M,Chatziralli IP,Droutsas D,Anagnou NP,Ladas ID

更新日期：2015-01-01 00:00:00

abstract：BACKGROUND:H syndrome is an autosomal recessive histiocytosis with multisystemic involvement caused by mutations in the SLC29A3 gene. The term H syndrome was coined to denote the major clinical findings which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hypogonadism, hyperglycemia/diabet...

journal_title：Ophthalmic genetics

authors： Molho-Pessach V,Mechoulam H,Siam R,Babay S,Ramot Y,Zlotogorski A

更新日期：2015-01-01 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：:A considerable volume of literature has been published on the association of lacrimal outflow dysgenesis with developmental anomalies or systemic syndromes. We report three affected individuals in a consanguineous family those are associated with bilateral ptosis, upper ocular movement limitation, and absence of the l...

journal_title：Ophthalmic genetics

authors： Guran S,Torun D,Mutlu FM,Uysal Y,Ugurel MS,Bahce M

更新日期：2009-09-01 00:00:00

abstract：PURPOSE:The age-related maculopathy susceptibility2 (ARMS2)/LOC387715 A69S (rs10490924) polymorphism and cigarette smoking have been shown to have significant association with AMD. In this meta-analysis we used the results of available association studies of combined ARMS2/LOC387715 genotypes and cigarette smoking with...

journal_title：Ophthalmic genetics

authors： Jabbarpoor Bonyadi MH,Yaseri M,Bonyadi M,Soheilian M,Nikkhah H

更新日期：2017-07-01 00:00:00

abstract：BACKGROUND:Wildervanck Syndrome (WS; cervico-oculo-acoustic syndrome) consists of Duane retraction syndrome (DRS), the Klippel-Feil anomaly, and congenital deafness. It is much more common in females than males and could be due to an X-linked mutation that is lethal to hemizygous males. We present the genetic evaluatio...

journal_title：Ophthalmic genetics

authors： Abu-Amero KK,Kondkar AA,Alorainy IA,Khan AO,Al-Enazy LA,Oystreck DT,Bosley TM

更新日期：2014-03-01 00:00:00

abstract：OBJECTIVE:To characterize visual function in defined genotypes including siblings with Usher syndrome. METHODS:Thirteen patients with phenotypically different subtypes of Usher syndrome, including 3 families with affected siblings, were selected. Genetic analysis and ophthalmological examinations including visual fiel...

journal_title：Ophthalmic genetics

authors： Malm E,Ponjavic V,Möller C,Kimberling WJ,Andréasson S

更新日期：2011-06-01 00:00:00

abstract：PURPOSE:Early-onset retinal dystrophy is usually isolated but can also be the presenting manifestation of an undiagnosed systemic disease. The purpose of this report is to highlight the initial presentation of a girl with early-onset retinal dystrophy and chronic dermatitis who was found to have an undiagnosed congenit...

journal_title：Ophthalmic genetics

authors： Khan AO

更新日期：2018-10-01 00:00:00

abstract：PURPOSE:To describe the clinical phenotype in a family with Best's vitelliform macular dystrophy (BMD) and a new mutation (Val89Ala) in the VMD2 gene. METHODS:The genotype was determined by direct sequence analysis of the individual exons of VMD2. Nine members of a family with BMD were examined. The examination includ...

journal_title：Ophthalmic genetics

authors： Eksandh L,Bakall B,Bauer B,Wadelius C,Andréasson S

更新日期：2001-06-01 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：BACKGROUND:Functional polymorphisms in genes encoding antioxidant enzymes may result in reduced enzyme activity and increased levels of reactive oxygen species, such as superoxide radicals, which in turn may contribute to increased risk of age-related disorders. Copper-zinc superoxide dismutases, SOD-1 and SOD-3, and m...

journal_title：Ophthalmic genetics

authors： Celojevic D,Nilsson S,Behndig A,Tasa G,Juronen E,Karlsson JO,Zetterberg H,Petersen A,Zetterberg M

更新日期：2013-09-01 00:00:00

abstract：:Cryptophthalmos is a condition of congenital eyelid malformation most commonly accompanied by syndactyly, urogenital anomalies, and cognitive impairments as in Fraser syndrome. We report on a patient with characteristic features consistent with autosomal dominant bilateral complete isolated cryptophthalmos. This patie...

journal_title：Ophthalmic genetics

authors： Egier D,Orton R,Allen L,Siu VM

更新日期：2005-12-01 00:00:00

abstract：:Since the discovery of the ABCA4 gene as the cause of autosomal recessive Stargardt disease/fundus flavimaculatus much has been written of the phenotypic variability in ABCA4 retinopathy. In this review the authors discuss the findings seen on examination and the disease features detected using various clinical tests....

journal_title：Ophthalmic genetics

authors： Burke TR,Tsang SH

更新日期：2011-09-01 00:00:00

abstract：PURPOSE:To describe and compare ocular findings in patients with Hermansky-Pudlak syndrome (HPS) type 1 and 3. METHODS:This is a retrospective case series of 64 patients with HPS from 1999 to 2009 evaluated at an outpatient private ophthalmologic clinic. Patients underwent genetic analysis of selected albinism (Tyrosi...

journal_title：Ophthalmic genetics

authors： Jardón J,Izquierdo NJ,Renta JY,García-Rodríguez O,Cadilla CL

更新日期：2016-01-01 00:00:00

abstract：:A novel rhodopsin missense mutation (M216R) was found in a Danish patient with autosomal dominant retinitis pigmentosa. Clinical examination of the proband disclosed a phenotype of intermediate severity. In view of the predicted amino acid substitution in the 5th transmembrane domain of rhodopsin, the clinical picture...

journal_title：Ophthalmic genetics

authors： Haim M,Grundmann K,Gal A,Rosenberg T

更新日期：1996-12-01 00:00:00

abstract：:A three-generation family presenting with ocular developmental abnormalities, including anterior segment dysgenesis and coloboma, associated with brachydactyly and clinodactyly is presented. Several conditions incorporating ocular and bony limb abnormalities have been described. However, we believe that this family ma...

journal_title：Ophthalmic genetics

authors： Quinn SM,Black GC,Biswas S,Clayton-Smith J,Lloyd IC

更新日期：2004-12-01 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：: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：OBJECTIVE:This study was undertaken with the objective to investigate the potential involvement of VAX2 in retinal degeneration. METHODS:A cohort of macular and cone dystrophy patients (n = 70) was screened for variant identification. Polymerase chain reaction (PCR) products were purified using ExoSAP-IT. Direct seque...

journal_title：Ophthalmic genetics

authors： Alfano G,Waseem NH,Webster AR,Bhattacharya SS

更新日期：2018-08-01 00:00:00