A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration.

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：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：: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 identification by fundus examination of those females carrying an X-linked retinitis pigmentosa (RP) gene can reportedly be as high as 87%. In genetic counselling sessions with young females with a 50% risk of being a carrier who wished to know their status, it has not been possible to achieve such a level of succ...

journal_title：Ophthalmic genetics

authors： Bech-Hansen NT,Pearce WG

更新日期：1995-09-01 00:00:00

abstract：PURPOSE:To characterize a Chinese family with inherited retinitis pigmentosa (RP). METHODS:Linkage studies and haplotype analysis were used for gene mapping, and single-strand conformation polymorphism (SSCP) analysis and direct DNA sequence analysis were used for identifying the responsible mutation. RESULTS:Pedigre...

journal_title：Ophthalmic genetics

authors： Zhao K,Wang L,Wang L,Wang L,Zhang Q,Wang Q

更新日期：2001-09-01 00:00:00

abstract：:Angioid streaks were observed in two patients with abetalipoproteinemia. The progression of the angioid streaks was minimal over the years that these patients received vitamin A and E supplementation, though in one patient the development of subretinal neovascular membranes within the angioid streaks was the cause of ...

journal_title：Ophthalmic genetics

authors： Gorin MB,Paul TO,Rader DJ

更新日期：1994-09-01 00:00:00

abstract：PURPOSE:To identify the genetic basis of a recessive inheritance form of retinal dystrophy (RD) in a Lebanese family. MATERIALS AND METHODS:Clinical data were recorded for five patients of the 14 family members. Genetic linkage was carried out using Affymetrix 250 K Nspl SNP array followed by sequencing. RESULTS:The ...

journal_title：Ophthalmic genetics

authors： Jalkh N,Guissart C,Chouery E,Yammine T,El Ali N,Farah HA,Mégarbané A

更新日期：2014-03-01 00:00:00

abstract：:A case report of Stickler's syndrome associated with congenital glaucoma is presented. Stickler's syndrome is an autosomal dominant disorder characterised by progressive arthropathy, midfacial flattening, Pierre Robin anomaly or cleft palate, sensorineural hearing loss, progressive myopia, vitreoretinal degeneration, ...

journal_title：Ophthalmic genetics

authors： Ziakas NG,Ramsay AS,Lynch SA,Clarke MP

更新日期：1998-03-01 00:00:00

abstract：PURPOSE:The study was undertaken to investigate whether anterior segment findings are different in children with Down syndrome (DS) to normal children and to focus on its clinical significance. METHODS:A cross-sectional case control study was conducted in a total of 38 children with DS and 42 healthy children. This is...

journal_title：Ophthalmic genetics

authors： Aslan L,Aslankurt M,Aksoy A,Gümüşalan Y

更新日期：2014-06-01 00:00:00

abstract：BACKGROUND:Age-related cataract (ARC) is profoundly associated with oxidative stress. Iron plays a pivotal role in generating oxidative stress and promoting deleterious irreversible damage to the macromolecules. Divalent metal transporter 1 (DMT1) mediates the uptake of iron into the cell. Aberrant transcript expressio...

journal_title：Ophthalmic genetics

authors： Sankaranarayanan R,Vidya NG,Vasavada AR

更新日期：2019-04-01 00:00:00

abstract：:Photoaversion is a prominent symptom of a number of infantile genetic ocular disorder such as congenital glaucoma, aniridia, albinism, and cone dystrophies including achromatopsia. Photoaversion has not been widely recognized as a clinical feature of Leber's congenital amaurosis. We present two patients who were diagn...

journal_title：Ophthalmic genetics

authors： Traboulsi EI,Maumenee IH

更新日期：1995-03-01 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：:The PCR/restriction endonuclease digestion (RE) assay and PCR/SSCP analysis of the rhodopsin gene in 13 Japanese families with autosomal dominant retinitis pigmentosa (ad RP) revealed a G-A substitution of the first nucleotide of codon 181, replacing Glu (GAG) with Lys (AAG), in one family. The proband showed an early...

journal_title：Ophthalmic genetics

authors： Saga M,Mashima Y,Akeo K,Oguchi Y,Kudoh J,Shimizu N

更新日期：1994-06-01 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：:Background: Syndromic ciliopathies have been variably linked to different retinal dystrophies. However, to date, few reports have characterized by means of multimodal imaging the retinal degeneration occurring in Mainzer-Saldino syndrome (MSS). Methods: Two siblings with history of kidney disease and other systemic ab...

journal_title：Ophthalmic genetics

authors： Romano F,Dautaj A,Esposito RA,Bertelli M,Staurenghi G,Salvetti AP

更新日期：2021-01-03 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:MSX2 mutations are a very rare cause of craniosynostosis. Gain-of-function mutations may lead to the Boston-type craniosynostosis with limb defects and refraction errors, whereas loss-of-function mutations causes primary osseous defects such as enlarged parietal foramina. MATERIALS AND METHODS:Herein we rep...

journal_title：Ophthalmic genetics

authors： Plaisancié J,Collet C,Pelletier V,Perdomo Y,Studer F,Fradin M,Schaefer E,Speeg-Schatz C,Bloch-Zupan A,Flori E,Dollfus H

更新日期：2015-01-01 00:00:00

abstract：:Patients with a deletion at the terminal end of chromosome 6p can present with a variety of ophthalmological and systemic malformations. In this paper we present two patients with this chromosomal anomaly and similar anterior eye-segment abnormalities. We also give an overview of the literature on the ophthalmological...

journal_title：Ophthalmic genetics

authors： Cornelis T,Rayyan M,Devriendt K,Casteels I

更新日期：2015-06-01 00:00:00

abstract：:This review will cover the state of the field in retinal degeneration and gene therapy with a focus on the great strides that have been made in retina gene therapy. Topics ranging from the development of animal models to clinical trials (for the treatment of Leber congenital amaurosis, age-related macular degeneration...

journal_title：Ophthalmic genetics

authors： Rex TS

更新日期：2007-09-01 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：:Usher syndrome has classically been described as a combination of hearing loss and rod-cone dystrophy; vestibular dysfunction is present in many patients. Three distinct clinical subtypes were documented in the late 1970s. Genotyping efforts have led to the identification of several genes associated with the disease. ...

journal_title：Ophthalmic genetics

authors： Nolen RM,Hufnagel RB,Friedman TB,Turriff AE,Brewer CC,Zalewski CK,King KA,Wafa TT,Griffith AJ,Brooks BP,Zein WM

更新日期：2020-10-01 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：:Mutations in sequestosome 1 (SQSTM1) gene are associated with neurodegenerative diseases, such as frontotemporal dementia and amyotrophic lateral sclerosis. Recently, mutation in SQSTM1 was also found to cause a progressive childhood-onset cerebellar ataxia. We describe here a case of progressive childhood-onset cereb...

journal_title：Ophthalmic genetics

authors： Vedartham V,Sundaram S,Nair SS,Ganapathy A,Mannan A,Menon R

更新日期：2019-08-01 00:00:00

abstract：BACKGROUND:We estimated the incidence and prevalence of diagnosed cataracts among patients with cystic fibrosis (CF) versus the general population (GP). METHODS:Using a large US health insurance claims database, we identified a CF cohort and a GP cohort matched with respect to age, gender, and calendar year. The preva...

journal_title：Ophthalmic genetics

authors： Everage NJ,Bai Y,Loop B,Volkova N,Liu N,Enger C

更新日期：2017-12-01 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

abstract：:The H402 allele of the CFH gene is an established risk factor for age-related maculopathy (ARMD) in Caucasians, accounting for approximately 60% of the genetic risk at the population level. In general, the advanced forms of ARMD are rare in Black populations in Africa, as well as Black populations who have lived for g...

journal_title：Ophthalmic genetics

authors： Ziskind A,Bardien S,van der Merwe L,Webster AR

更新日期：2008-09-01 00:00:00

abstract：:Background: Chromosomal deletion involving the 6p25 region results in a clinically recognizable syndrome characterized by anterior eye chamber anomalies with risk of glaucoma and non-ocular malformations (6p25 deletion syndrome). We report a newborn infant case of childhood glaucoma with a combination of partial monos...

journal_title：Ophthalmic genetics

authors： Hosono K,Kawase K,Kurata K,Niimi Y,Saitsu H,Minoshima S,Ohnishi H,Yamamoto T,Hikoya A,Tachibana N,Fukao T,Yamamoto T,Hotta Y

更新日期：2020-04-01 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：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：: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