Dilated and tortuous retinal vessels as a sign of Cantu syndrome.

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：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：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：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：BACKGROUND:Nuclear hormone receptor gene, NR2E3, plays a critical role in retinogenesis and determination of the rod photoreceptor phenotype. Mutations in NR2E3 typically lead to recessive enhanced S-cone syndrome (ESCS), where affected individuals show higher sensitivity to short wavelength light and early onset rod d...

journal_title：Ophthalmic genetics

authors： Cehajic-Kapetanovic J,Cottriall CL,Jolly JK,Shanks M,Clouston P,Charbel Issa P,MacLaren RE

更新日期：2019-02-01 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：:Purpose: To report novel mutations in the FZD4 and LRP5 genes, associated with familial exudative vitreoretinopathy (FEVR), and to correlate with clinical features of 7 FEVR patients. Methods: In this retrospective case series, 7 patients who had undergone genetic panel testing and carried a diagnosis of FEVR were ide...

journal_title：Ophthalmic genetics

authors： Carrera W,Ng C,Desler C,Jumper JM,Agarwal A

更新日期：2020-12-10 00:00:00

abstract：:Purpose: Congenital glaucoma (CG) results from poorly understood developmental abnormalities of the aqueous drainage structures and is clinically characterized by high intraocular pressure (IOP), epiphora, corneal oedema, photophobia, blepharospasm and ocular enlargement. To date, more than 50 pathogenic mutations in ...

journal_title：Ophthalmic genetics

authors： Giuffre' I

更新日期：2011-08-04 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：BACKGROUND:Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by benign hamartomas occurring in multiple organ systems including the brain, kidneys, heart, lungs, liver, skin, and the eyes. Typical retinal findings associated with TSC include astrocytic hamartoma and achromic patch...

journal_title：Ophthalmic genetics

authors： Geffrey AL,Geenen KR,Abati E,Greenstein SH,VanderVeen DK,Levy RL,Davidson SL,McGarrey MP,Thiele EA,Aronow ME

更新日期：2020-08-01 00:00:00

abstract：BACKGROUND:Mutation in eye developmental genes has been reported to cause anophthalmia and microphthalmia. However, in India, especially in the Western Indian population, such reports are scarce. Hence, the present study aims to investigate mutations in 15 ocular developmental genes in patients with anophthalmia and mi...

journal_title：Ophthalmic genetics

authors： Vidya NG,Rajkumar S,Vasavada AR

更新日期：2018-06-01 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：: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：: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: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：PURPOSE:To study the clinical relevance of sequence alterations in the optineurin gene (OPTN) among Japanese patients with open-angle glaucoma, including both primary open-angle glaucoma (POAG) and normal tension glaucoma (NTG). METHODS:Genomic DNA was isolated from 83 patients with open-angle glaucoma (55 with POAG a...

journal_title：Ophthalmic genetics

authors： Umeda T,Matsuo T,Nagayama M,Tamura N,Tanabe Y,Ohtsuki H

更新日期：2004-06-01 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：: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：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

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：: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：: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：: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：: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：: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: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：: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：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：PURPOSE:In this study, we aimed to detect mutations in the SLC7A14 cationic transporter gene, which has recently been reported as a causative gene for retinitis pigmentosa (RP), in Japanese patients with autosomal recessive (AR) or sporadic RP. MATERIALS AND METHODS:We included 146 unrelated Japanese patients with AR ...

journal_title：Ophthalmic genetics

authors： Sugahara M,Oishi M,Oishi A,Ogino K,Morooka S,Gotoh N,Kang I,Yoshimura N

更新日期：2017-01-01 00:00:00

abstract：:A Swedish family with choroideremia and a deletion of the CHM gene has been studied with ophthalmological examination, full-field electroretinography, and DNA analysis in order to characterize the phenotype of the disease. Although all four patients studied had a complete deletion of the gene, they showed a considerab...

journal_title：Ophthalmic genetics

authors： Ponjavic V,Abrahamson M,Andréasson S,Van Bokhoven H,Cremers FP,Ehinger B,Fex G

更新日期：1995-12-01 00:00:00