Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion.

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：: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：:Twenty-one probands, twelve with bilateral and nine with unilateral retinoblastoma, were screened for mutations in the RB1 gene using genomic DNA from peripheral blood leukocytes as well as tumors. Amplification of individual exons and flanking regions of the RB1 gene were carried out, followed by direct sequencing of...

journal_title：Ophthalmic genetics

authors： Ata-ur-Rasheed M,Vemuganti Gk,Honavar Sg,Ahmed N,Hasnain Se,Kannabiran C

更新日期：2002-06-01 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：BACKGROUND:Although the pathogenicity of the prominin-1 (PROM1) gene has already been described as associated with autosomal dominant Stargardt disease, little is known about sequence variations in this gene. PURPOSE:The aim of this study was to evaluate PROM1 gene sequence variations in patients with macular dystroph...

journal_title：Ophthalmic genetics

authors： Salles MV,Motta FL,Dias da Silva E,Varela Lima Teixeira P,Antunes Costa K,Filippelli-Silva R,Martin R,Pesquero JB,Ferraz Sallum JM

更新日期：2017-01-01 00:00:00

abstract：PURPOSE:Mutations in the gene encoding rhodopsin, the visual pigment in rod photoreceptors, were shown to be the most common cause of autosomal retinitis pigmentosa (RP). In order to determine the prevalence of rhodopsin alterations in southern French populations, we examined 52 unrelated patients/families with autosom...

journal_title：Ophthalmic genetics

authors： Bareil C,Hamel C,Pallarès-Ruiz N,Arnaud B,Demaille J,Claustres M

更新日期：1999-09-01 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: 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：: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：BACKGROUND:Optic disc pit is a very rare clinical entity. The main complication of this condition is the maculopathy. Report of cases: A 40-year-old Caucasian man and his 6-year-old daughter underwent a complete ophthalmological examination. In both cases ophthalmoscopy examination showed a bilateral white-yellow oval ...

journal_title：Ophthalmic genetics

authors： Rossi S,De Rosa G,D'Alterio FM,Orrico A,Banfi S,Testa F,Simonelli F

更新日期：2017-05-01 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：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：PURPOSE:To investigate the retinal structure and function during the progression of X-linked retinoschisis (XLRS) from childhood to adulthood. METHODS:Ten patients clinically diagnosed with XLRS were investigated at 6-15 years of age (mean age 9 years) with a follow-up 8 to 14 years later (mean 12 years). The patients...

journal_title：Ophthalmic genetics

authors： Kjellström S,Vijayasarathy C,Ponjavic V,Sieving PA,Andréasson S

更新日期：2010-09-01 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：:Isolated congenital lens coloboma is a sectoral indentation of the crystalline lens due to zonular weakness or absence. The purpose of this report is to describe the association of lens coloboma with an adjacent cyst in the ciliary body and to suggest that ciliary body cysts may be an under-recognized cause of congeni...

journal_title：Ophthalmic genetics

authors： Khan AO,Al-Assiri A

更新日期：2007-12-01 00:00:00

abstract：PURPOSE:Age-related macular degeneration (AMD) as the leading cause of central visual loss in the developed countries has extensive pathologic similarities with Alzheimer's disease (AD). Saitohin rs62063857 Q7 R polymorphism is associated with increased risk of AD though we decided to evaluate the possible association ...

journal_title：Ophthalmic genetics

authors： Bonyadi M,Ahmadieh H,Jabbarpoor Bonyadi MH,Shahpasand K,Suri F,Nasrabadi N,Yaseri M,Kheiri B,Soheilian M

更新日期：2020-10-01 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：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：PURPOSE:To report on a novel translocation related to a suprasellar primitive neuroectodermal tumor (sPNET) and retinoblastoma. DESIGN:Case report. METHODS:A 6-year-old girl underwent genetic testing after developing unilateral retinoblastoma subsequent to treatment (surgery, chemotherapy, and stem-cell rescue) for a...

journal_title：Ophthalmic genetics

authors： Huddleston S,McNall-Knapp RY,Siatkowski M,Odom C,Brennan R,Wilson MW

更新日期：2013-03-01 00:00:00

abstract：PURPOSE:Phototherapeutic keratectomy (PTK) with 193-nm excimer laser is a safe and effective procedure for the treatment of superficial corneal pathology. We aimed to review the use of PTK for the treatment of corneal macular dystrophy (MCD). METHODS:Case report and literature review. RESULTS:A 16-year-old boy presen...

journal_title：Ophthalmic genetics

authors： Shields M,Craig JE,Souzeau E,Gupta A

更新日期：2020-08-01 00:00:00

abstract：BACKGROUND:Senior-Løken syndrome (SLS) is a rare autosomal recessive disease characterised by nephronophthisis and retinal degeneration, and belongs to a group of genetically heterogeneous disorders known as the ciliopathies. MATERIALS AND METHODS:Case report of a  patient with genetically proven SLS presenting with h...

journal_title：Ophthalmic genetics

authors： Tay SA,Vincent AL

更新日期：2020-08-01 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：OBJECTIVE:To describe the clinical and pathological findings of two large mainland Chinese kindreds with vitreous amyloidosis and associated transthyretin mutation. METHODS:Twenty individuals from two kindreds with vitreous amyloidosis were ascertained. The transtheretin (TTR) gene of each individual was analyzed, and...

journal_title：Ophthalmic genetics

authors： Long D,Zeng J,Wu LQ,Tang LS,Wang HL,Wang H

更新日期：2012-03-01 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：: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:SPATA7 mutations have been associated with different autosomal recessive retinal degeneration phenotypes. Long-term follow-up has not been described in detail. MATERIALS AND METHODS:A Hispanic patient with SPATA7 mutations was evaluated serially over a 12-year period with kinetic and static chromatic perime...

journal_title：Ophthalmic genetics

authors： Matsui R,McGuigan Iii DB,Gruzensky ML,Aleman TS,Schwartz SB,Sumaroka A,Koenekoop RK,Cideciyan AV,Jacobson SG

更新日期：2016-09-01 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：: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：:Choroideremia (CHM) is an X-linked heritable progressive dystrophy of the choroid and retina. The condition predominantly affects males beginning in early childhood and eventually results in blindness after a period of 30-40 years. The CHM gene was localized to Xq21 and cloned in the past few years. The gene encodes f...

journal_title：Ophthalmic genetics

authors： Nesslinger N,Mitchell G,Strasberg P,MacDonald IM

更新日期：1996-06-01 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