Fundus phenotype in retinitis pigmentosa associated with EYS mutations.

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

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: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：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：:Background Microcephaly and chorioretinopathy (MCCRP) is a rare neuro-ophthalmologic disorder that causes microcephaly and chorioretinopathy. In a recessive inheritance pattern, there are three types: MCCRP1; MCCRP2 and MCCRP3. MCCRP3 results from pathogenic variants in the tubulin-gamma complex-associated protein 4 (...

journal_title：Ophthalmic genetics

authors： Da Palma MM,Motta FL,Takitani GEDS,Salles MV,Lima LH,Ferraz Sallum JM

更新日期：2020-04-01 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 the spectral domain-optical coherence tomography (SD-OCT) findings of two patients with complete defects in the retinal pigment epithelium (RPE) with disruptions in Bruch membrane in Stargardt disease (STGD1). METHODS:Two patients with STGD1 were referred to our clinic for further evaluation. Fundu...

journal_title：Ophthalmic genetics

authors： Park SP,Chang S,Allikmets R,Smith RT,Burke TR,Gregory-Roberts E,Tsang SH

更新日期：2012-03-01 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：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:The hexokinase 1 (HK1) gene encodes one of the four human hexokinases that play essential roles in glucose metabolism. Recently, several cases of E847K mutation in the HK1 gene were reported to cause inherited retinal dystrophy. The purpose of this study was to identify the phenotypical characteristics of patie...

journal_title：Ophthalmic genetics

authors： Kubota D,Matsumoto K,Hayashi M,Oishi N,Gocho K,Yamaki K,Kobayakawa S,Igarashi T,Takahashi H,Kameya S

更新日期：2020-12-01 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：BACKGROUND:Axenfeld-Rieger syndrome is characterized by a spectrum of anterior segment dysgenesis involving neural-crest-derived tissues, most commonly secondary to mutations in the transcription factor genes PITX2 and FOXC1. MATERIALS AND METHODS:Single retrospective case report. RESULTS:A full-term infant presented...

journal_title：Ophthalmic genetics

authors： Kletke SN,Vincent A,Maynes JT,Elbaz U,Mireskandari K,Lam WC,Ali A

更新日期：2020-08-01 00:00:00

abstract：:Background: Patients with intellectual disability syndromes frequently have coexisting abnormalities of ocular structures and the visual pathway system. The microphthalmos, anophthalmos, and coloboma (MAC) spectrum represent structural developmental eye defects that occur as part of a syndrome in one-third of cases. O...

journal_title：Ophthalmic genetics

authors： Mameesh MM,Al-Kindy A,Al-Yahyai M,Ganesh A

更新日期：2019-12-01 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：PURPOSE:To clinically characterize a Swedish family with autosomal dominant retinitis pigmentosa due to a mutation, Arg-172-Trp, in the peripherin/RDS gene. METHODS:Full clinical evaluation including kinetic visual field testing, measurement of dark-adaptation threshold, and full-field electroretinography in seven pat...

journal_title：Ophthalmic genetics

authors： Ekström U,Andréasson S,Ponjavic V,Abrahamson M,Sandgren O,Nilsson-Ehle P,Ehinger B

更新日期：1998-09-01 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：:Clinical findings of a 2.5-year-old girl presenting with barely detectable horizontal nystagmus and high hypermetropia are described. Despite the normal appearing anterior segments, the child had posterior microphthalmus and bilateral papillomacular retinal folds, conforming to a recently described, rare congenital di...

journal_title：Ophthalmic genetics

authors： Kiratli H,Tümer B,Kadayifçilar S

更新日期：2000-09-01 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：: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:Retinoblastoma (Rb) tumor recurrence in the papillary or macular region is a threat to life and visual prognosis respectively, making early detection indispensable. This study demonstrates the value of optical coherence tomography (OCT) in the early detection of subclinical tumor recurrence. METHODS:Since June...

journal_title：Ophthalmic genetics

authors： Gaillard MC,Houghton S,Stathopoulos C,Munier FL

更新日期：2018-06-01 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：: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：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 AND OBJECTIVES:The retinal features of Alport syndrome include a central and peripheral fleck retinopathy, temporal retinal thinning, and a macular hole. Here we describe further retinal abnormalities. METHODS:We identified a case of bull's eye maculopathy 20 years previously in a 68-year-old female, and re...

journal_title：Ophthalmic genetics

authors： Savige J,Wang Y,Crawford A,Smith J,Symons A,Mack H,Nicholls K,Wilson D,Colville D

更新日期：2017-05-01 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：: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：: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：:The electro-oculogram (EOG) was studied in 156 normal patients, 103 patients with Best's disease, and 52 patients with dominant cystoid macular dystrophy (DCMD). Statistical analysis was performed by comparing the distribution of Lp/Dt ratios of the groups. Strength of association between Lp/Dt ratio and age was studi...

journal_title：Ophthalmic genetics

authors： Pinckers A,Cuypers MH,Aandekerk AL

更新日期：1996-09-01 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: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