Phenotype variations within a choroideremia family lacking the entire CHM gene.

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: To characterize the phenotype and genotype of a rare syndrome associating posterior microphthalmos (PM), retinitis pigmentosa (RP), and foveoschisis in a consanguineous Spanish family. Methods: The study involved five family members, consisting of three siblings and their parents. All members underwent com...

journal_title：Ophthalmic genetics

authors： Morillo Sánchez MJ,Llavero Valero P,González-Del Pozo M,Ponte Zuñiga B,Antiñolo G,Ramos Jiménez M,Rodríguez De La Rúa Franch E

更新日期：2019-06-01 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 report phenotypic and genotypic features in a group of autosomal recessive retinitis pigmentosa (arRP) patients associated with EYS mutations. METHODS:we retrospectively reviewed the clinical records and the molecular genetic data of arRP patients carrying mutations in the EYS gene. All the patients underwe...

journal_title：Ophthalmic genetics

authors： Mucciolo DP,Sodi A,Passerini I,Murro V,Cipollini F,Borg I,Pelo E,Contini E,Virgili G,Rizzo S

更新日期：2018-10-01 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：:Aarskog syndrome (faciogenital dysplasia) is an X-linked recessive genetic growth disorder characterized by short stature, dysmorphic facies, shawl scrotum, and digital anomalies. The condition was first described in 1970 and the gene responsible is FGD1 (MIM#305400). There are several reported ophthalmic findings ass...

journal_title：Ophthalmic genetics

authors： Jogiya A,Sandy C

更新日期：2005-09-01 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：:Introduction: Mutations in Kizuna (KIZ), a gene involved in ciliary function, have been previously associated with rod-cone dystrophy with relative macular sparing and a number of other systemic abnormalities.Purpose: We present a patient with a phenotype dominated by retinal dystrophy and macular cysts as a result of...

journal_title：Ophthalmic genetics

authors： Zhao Y,Coussa RG,DeBenedictis MJM,Traboulsi EI

更新日期：2019-10-01 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: 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：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：:A three-generation family presenting with ocular developmental abnormalities, including anterior segment dysgenesis and coloboma, associated with brachydactyly and clinodactyly is presented. Several conditions incorporating ocular and bony limb abnormalities have been described. However, we believe that this family ma...

journal_title：Ophthalmic genetics

authors： Quinn SM,Black GC,Biswas S,Clayton-Smith J,Lloyd IC

更新日期：2004-12-01 00:00:00

abstract：BACKGROUND:To describe the clinical and genetic findings in a Chinese family with three sibs diagnosed with Usher syndrome type IIC. MATERIALS AND METHODS:Four members received ophthalmic and otologic tests to ascertain the clinical characteristics. According to the clinical phenotype, we focused attention on a total ...

journal_title：Ophthalmic genetics

authors： Zhang N,Wang J,Liu S,Liu M,Jiang F

更新日期：2018-08-01 00:00:00

abstract：PURPOSE:To determine the cause of Leber congenital amaurosis (LCA) in a consanguineous Emirati family. METHODS:The clinical diagnosis was made on the basis of medical history, ophthalmoscopy and standard ERG. The diagnosis was confirmed by molecular genetic analysis of known LCA genes by Next-Generation Sequencing (NG...

journal_title：Ophthalmic genetics

authors： Fakhratova M

更新日期：2013-12-01 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：PURPOSE:To characterize the underlying genetic defect in otherwise healthy Saudi newborns with buphthalmos, including those with iris abnormalities. METHODS:Prospective case series of affected Saudi Arabian probands who were referred for genetic counseling over a 4 year period. All had CYP1B1 sequencing. Selected pati...

journal_title：Ophthalmic genetics

authors： Khan AO,Aldahmesh MA,Al-Abdi L,Mohamed JY,Hashem M,Al-Ghamdi I,Alkuraya FS

更新日期：2011-09-01 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：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：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: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：:The visual cycle is essential for vision and several genes encoding proteins of the cycle have been found mutated in various forms of inherited retinal dystrophy. We screened 3 genes of the visual cycle. RGR, encoding the retinal pigment epithelium (RPE) G protein-coupled receptor acting in vitro as a photoisomerase; ...

journal_title：Ophthalmic genetics

authors： Ksantini M,Sénéchal A,Bocquet B,Meunier I,Brabet P,Hamel CP

更新日期：2010-12-01 00:00:00

abstract：:A 6-month-old boy presented with a congenital eye movement disorder consistent with congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Mutational analysis confirmed the most common mutation in the CFEOM1 gene KIF21A. In addition to the typical findings in CFEOM1, distinctive conjunctival changes and small...

journal_title：Ophthalmic genetics

authors： Flaherty MP,Balachandran C,Jamieson R,Engle EC

更新日期：2009-06-01 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：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：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：:Background: Retinitis punctate albescens (RPA) is a rare form of retinal dystrophy characterized by congenital stationary night blindness and a characteristic fundus appearance. Missense or nonsense mutations in RDH5 in homozygous or heterozygous state have been implicated in RPA.Material and methods: Two consanguineo...

journal_title：Ophthalmic genetics

authors： Khan R,Shabbir RMK,Raza I,Abdullah U,Naeem MA,Ahmed A,Malik S,Hu Z,Xia K

更新日期：2020-02-01 00:00:00

abstract：BACKGROUND:A Chinese family with X-linked juvenile retinoschisis (XLRS) was identified. The purpose of this study was to identify genetic defects in this family and to investigate the visual function during the progression of the disease in the proband from childhood to adulthood. METHODS:The family history was collec...

journal_title：Ophthalmic genetics

authors： Xu F,Sui R,Dong F

更新日期：2012-06-01 00:00:00

abstract：PURPOSE:To describe cataracts in classic and early onset Cockayne syndrome (CS). Classic CS typically has an onset after the first year of life; intrauterine growth failure and severe neurologic dysfunction from birth distinguishes the less common early onset CS from the classic form. METHODS:A complete ophthalmic eva...

journal_title：Ophthalmic genetics

authors： Ferreira RC,Roeder ER,Bateman JB

更新日期：1997-12-01 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：:Background: Inherited retinal dystrophies are a leading cause of irreversible blindness in children in the United States. Topical carbonic anhydrase inhibitors have improved central vision and cystoid macular edema in patients with retinal dystrophies, but few studies have assessed their efficacy in children. Material...

journal_title：Ophthalmic genetics

authors： Scruggs BA,Chen CV,Pfeifer W,Wiley JS,Wang K,Drack AV

更新日期：2019-08-01 00:00:00