Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations.

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：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：:Retinitis Pigmentosa (RP) is a major cause of heritable human blindness with a high genetic heterogeneity. It is characterized by the initial degeneration of rod photoreceptors followed by cone photoreceptors. RP is also a prominent reason of visual impairment, by a global prevalence of 1:4000. RP is usually specified...

journal_title：Ophthalmic genetics

authors： Salmaninejad A,Motaee J,Farjami M,Alimardani M,Esmaeilie A,Pasdar A

更新日期：2019-10-01 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：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: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：PURPOSE:To describe a family with X-linked congenital nystagmus and identify the genetic interval within which the gene is located. METHODS AND DESIGN:Clinical examination with genotyping of 30 individuals from a multi-generational Caucasian family with congenital nystagmus inherited in an X-linked pattern using marke...

journal_title：Ophthalmic genetics

authors： Kerrison JB,Giorda R,Lenart TD,Drack AV,Maumenee IH

更新日期：2001-12-01 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：: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: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：:Fundal opacities have been reported in patients with Gaucher disease, a rare autosomal recessive lysosomal storage disease, prior to the advent of optical coherent tomography. This report provides a detailed analysis of the fundal opacities in a 14-year-old girl with genetically proven Gaucher disease using spectral d...

journal_title：Ophthalmic genetics

authors： Sheck LH,Wilson CJ,Vincent AL

更新日期：2012-12-01 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：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：: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：: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：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：: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：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：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：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：: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：BACKGROUND:The use of intravitreal triamcinolone acetonide (IVTA) can cause ocular hypertension. This steroid response appears to be heritable and alleles in the SFRS3 and FKBP4 genes have recently been suggested to play a role. The purpose of the present study was to perform an independent replication study to determi...

journal_title：Ophthalmic genetics

authors： Hogewind BF,Micheal S,Bakker B,Hoyng CB,den Hollander AI

更新日期：2012-12-01 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：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: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：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：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：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：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