Analysis of candidate genes ZEB1 and LOXHD1 in late-onset Fuchs' endothelial corneal dystrophy in an Indian cohort.

abstract：:Ligneous conjunctivitis is an uncommon and recurrent type of chronic conjunctivitis. A prevalent cause of this disease is a Plasminogen deficiency, resulting from recessive mutations in the human encoding plasminogen (PLG) gene. This deficiency affects the conjunctiva and also other mucous membranes. Only few hundred ...

journal_title：Ophthalmic genetics

authors： Raimann R,Moya R,Anguita R,Kobus R,Pérez M,Gonzalez P

更新日期：2018-10-01 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: 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：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

abstract：:Mutations in the peripherin/RDS gene have been identified in families with various retinopathies including those affecting primarily the macula and those restricted to the retinal periphery. Here, we describe the clinical findings of two sisters with late-onset central areolar choroidal dystrophy (CACD). The two sibli...

journal_title：Ophthalmic genetics

authors： Keilhauer CN,Meigen T,Stöhr H,Weber BH

更新日期：2006-12-01 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：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：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：: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：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:To report two memorable clinical comorbid cases of Williams-Beuren syndrome (WBS) associated with keratoconus (KC). WBS is known to be an abnormal systemic development caused by a microdeletion of contiguous genes in chromosome 7q11.23, which includes the elastin gene. KC is currently suspected to have a geneti...

journal_title：Ophthalmic genetics

authors： Pinsard L,Touboul D,Vu Y,Lacombe D,Leger F,Colin J

更新日期：2010-12-01 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：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: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：: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：:We present six patients with typical Hallermann-Streiff syndrome. All have microphthalmia and were operated for congenital cataract. Three of the patients developed a severe glaucoma and one patient presented repeated uveal effusions. Five of our patients have the same pattern of corneal stromal opacities. The opaciti...

journal_title：Ophthalmic genetics

authors： Roulez FM,Schuil J,Meire FM

更新日期：2008-06-01 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：PURPOSE:To characterize a Chinese family with inherited retinitis pigmentosa (RP). METHODS:Linkage studies and haplotype analysis were used for gene mapping, and single-strand conformation polymorphism (SSCP) analysis and direct DNA sequence analysis were used for identifying the responsible mutation. RESULTS:Pedigre...

journal_title：Ophthalmic genetics

authors： Zhao K,Wang L,Wang L,Wang L,Zhang Q,Wang Q

更新日期：2001-09-01 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：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：BACKGROUND:Functional polymorphisms in genes encoding antioxidant enzymes may result in reduced enzyme activity and increased levels of reactive oxygen species, such as superoxide radicals, which in turn may contribute to increased risk of age-related disorders. Copper-zinc superoxide dismutases, SOD-1 and SOD-3, and m...

journal_title：Ophthalmic genetics

authors： Celojevic D,Nilsson S,Behndig A,Tasa G,Juronen E,Karlsson JO,Zetterberg H,Petersen A,Zetterberg M

更新日期：2013-09-01 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：:Since the discovery of the ABCA4 gene as the cause of autosomal recessive Stargardt disease/fundus flavimaculatus much has been written of the phenotypic variability in ABCA4 retinopathy. In this review the authors discuss the findings seen on examination and the disease features detected using various clinical tests....

journal_title：Ophthalmic genetics

authors： Burke TR,Tsang SH

更新日期：2011-09-01 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

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: 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: 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：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：:Background: Syndromic ciliopathies have been variably linked to different retinal dystrophies. However, to date, few reports have characterized by means of multimodal imaging the retinal degeneration occurring in Mainzer-Saldino syndrome (MSS). Methods: Two siblings with history of kidney disease and other systemic ab...

journal_title：Ophthalmic genetics

authors： Romano F,Dautaj A,Esposito RA,Bertelli M,Staurenghi G,Salvetti AP

更新日期：2021-01-03 00:00:00

abstract：PURPOSE:To determine the impact of subtle differences (most notably in their classification of group E eyes) in two published versions of the ICRB (Philadelphia and the Children's Hospital Los Angeles). METHODS:Analysis of a series of 96 eyes with intra-ocular retinoblastoma. RESULTS:The disparate criteria of the 2 p...

journal_title：Ophthalmic genetics

authors： Novetsky DE,Abramson DH,Kim JW,Dunkel IJ

更新日期：2009-03-01 00:00:00