Aicardi syndrome in a genotypic male.

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：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：: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：PURPOSE:The associations between genetic variants located in CFH, CFB, ARMS2 and HTRA1 and the risk of age-related macular degeneration (AMD) in a northern Chinese population were investigated. METHODS:A case-control association study of 150 AMD patients and 145 ethnicity- and gender-matched controls were recruited. G...

journal_title：Ophthalmic genetics

authors： Zhuang W,Li H,Liu Y,Zhao J,Ha S,Xiang W,Bai X,Li Z,Han Y,Sheng X

更新日期：2014-09-01 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：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：:A new syndrome with abnormalities along the first branchial arch and the milk list is described in a family of four affected generations. The characteristics of the syndrome are epibulbar lipodermoids, preauricular appendages and polythelia. The expressivity varies but all affected have supernumerary nipples and preau...

journal_title：Ophthalmic genetics

authors： Goldschmidt E,Jacobsen N

更新日期：2010-06-01 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：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：INTRODUCTION:Diagnostic next generation sequencing (NGS) services for patients with inherited retinal diseases (IRD) traditionally use gene panel based approaches, which have cost and resource implications. Phenotype-based gene panels use a targeted strategy with further testing protocols, if initial results are negati...

journal_title：Ophthalmic genetics

authors： Shah M,Shanks M,Packham E,Williams J,Haysmoore J,MacLaren RE,Németh AH,Clouston P,Downes SM

更新日期：2020-08-01 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：: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：:The H402 allele of the CFH gene is an established risk factor for age-related maculopathy (ARMD) in Caucasians, accounting for approximately 60% of the genetic risk at the population level. In general, the advanced forms of ARMD are rare in Black populations in Africa, as well as Black populations who have lived for g...

journal_title：Ophthalmic genetics

authors： Ziskind A,Bardien S,van der Merwe L,Webster AR

更新日期：2008-09-01 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：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: 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：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：: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：: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：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：:One of the treatment options for intraocular retinoblastoma is thermochemotherapy with diode laser combined with chemotherapy. Very little is known about the evolution of laser scars resulting from diode laser treatment for retinoblastoma. We report a case of atrophic chorioretinal scar and focal scleral bowing after ...

journal_title：Ophthalmic genetics

authors： de Graaf P,Castelijns JA,Moll AC,Imhof SM,Schouten-van Meeteren AY

更新日期：2006-03-01 00:00:00

abstract：PURPOSE:To present a boy with unilateral duplication of the eye. METHOD:The case history is described from the first visit at birth to the age of 14 years. RESULTS:A review of the literature shows that this malformation is compatible with life although malformations of the brain and epilepsy have been reported in all...

journal_title：Ophthalmic genetics

authors： Jensen H,Pedersen SA,Jensen OA,Herning M,Warburg M

更新日期：2007-06-01 00:00:00

abstract：:A case report of Stickler's syndrome associated with congenital glaucoma is presented. Stickler's syndrome is an autosomal dominant disorder characterised by progressive arthropathy, midfacial flattening, Pierre Robin anomaly or cleft palate, sensorineural hearing loss, progressive myopia, vitreoretinal degeneration, ...

journal_title：Ophthalmic genetics

authors： Ziakas NG,Ramsay AS,Lynch SA,Clarke MP

更新日期：1998-03-01 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：: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 describe bilateral vitreous opacities and maculopathy in a child with Hunter syndrome. METHODS:A case involving fundus examination, photography, and optical coherence tomography. Medline and Embase searches found no reference to vitreous or macular abnormalities in Hunter syndrome. RESULTS:A two-year-old b...

journal_title：Ophthalmic genetics

authors： Anawis MA

更新日期：2006-06-01 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：: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：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：OBJECTIVES:Williams-Beuren Syndrome (WBS) is a multisystem disorder caused by the deletion of contiguous genes on chromosome 7q11.23. Ophthalmologic abnormalities and deficits in visual motor integration are important features of WBS. Here we describe our experience with Brazilian WBS patients and their ophthalmologic ...

journal_title：Ophthalmic genetics

authors： Viana MM,Frasson M,Galvão H,Leão LL,Stofanko M,Gonçalves-Dornelas H,da Silva Cunha P,Burle de Aguiar MJ

更新日期：2015-01-01 00:00:00