Corneal opacities in the Hallermann-Streiff syndrome.

abstract：PURPOSE:Phototherapeutic keratectomy (PTK) with 193-nm excimer laser is a safe and effective procedure for the treatment of superficial corneal pathology. We aimed to review the use of PTK for the treatment of corneal macular dystrophy (MCD). METHODS:Case report and literature review. RESULTS:A 16-year-old boy presen...

journal_title：Ophthalmic genetics

authors： Shields M,Craig JE,Souzeau E,Gupta A

更新日期：2020-08-01 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：: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：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：: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：PURPOSE:Genetic factors are shown to have a role in the development of primary open-angle glaucoma (POAG). The aim of this study was to determine the effects of genetic polymorphisms of Rho-kinase (ROCK) genes on the risk of POAG in a Turkish population. METHODS:Genomic DNA was extracted from leukocytes of the periphe...

journal_title：Ophthalmic genetics

authors： Demiryürek S,Okumus S,Bozgeyik İ,Oztuzcu S,Coskun E,Mat E,Durucu E,Tatar MG,Erbagci İ,Gürler B,Demiryürek AT

更新日期：2016-01-01 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：PURPOSE:To describe a family with X-linked congenital nystagmus and identify the genetic interval within which the gene is located. METHODS AND DESIGN:Clinical examination with genotyping of 30 individuals from a multi-generational Caucasian family with congenital nystagmus inherited in an X-linked pattern using marke...

journal_title：Ophthalmic genetics

authors： Kerrison JB,Giorda R,Lenart TD,Drack AV,Maumenee IH

更新日期：2001-12-01 00:00:00

abstract：BACKGROUND:Age-related macular degeneration is the leading cause of blindness in elderly individuals in developed countries. The etiology and pathophysiology of age-related macular degeneration have not been elucidated yet. Knowing that the main pathological change of age-related macular degeneration is formation of dr...

journal_title：Ophthalmic genetics

authors： Stasiukonyte N,Liutkeviciene R,Vilkeviciute A,Banevicius M,Kriauciuniene L

更新日期：2017-07-01 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：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：: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: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：: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：: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：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：PURPOSE:To perform genotype-phenotype correlations in a family with choroideremia. METHODS:A three-generation family with two affected males and five carriers was the subject of the study. Molecular genetic analysis using single-strand conformation polymorphism analysis (SSCP) was conducted in all subjects, while elec...

journal_title：Ophthalmic genetics

authors： Rudolph G,Preising M,Kalpadakis P,Haritoglou C,Lang GE,Lorenz B

更新日期：2003-12-01 00:00:00

abstract：:Background: Classical MMA, caused by methylmalonyl-CoA mutase deficiency, may result in late-onset dysfunction in several organ systems. To date, 10 cases of optic neuropathy have been reported. The prevalence of optic neuropathy in visually asymptomatic patients has not been determined. This study sought to identify ...

journal_title：Ophthalmic genetics

authors： AlOwain M,Khalifa OA,Al Sahlawi Z,Hussein MH,Sulaiman RA,Al-Sayed M,Rahbeeni Z,Al-Hassnan Z,Al-Zaidan H,Nezzar H,Al Homoud I,Eldali A,Altonen B,Handoom BS,Mbekeani JN

更新日期：2019-08-01 00:00:00

abstract：BACKGROUND:Wagner vitreoretinopathy (WVR) is a rare non-syndromic autosomal dominant inherited vitreoretinopathy. We studied the phenotypes of two Chinese families with WVR and identified the pathogenic variants. MATERIALS AND METHODS:Four affected individuals were involved in this study. Three of them underwent detai...

journal_title：Ophthalmic genetics

authors： Li H,Li H,Yang L,Sun Z,Wu S,Sui R

更新日期：2020-10-01 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：:Choroideremia (CHM) is an X-linked heritable progressive dystrophy of the choroid and retina. The condition predominantly affects males beginning in early childhood and eventually results in blindness after a period of 30-40 years. The CHM gene was localized to Xq21 and cloned in the past few years. The gene encodes f...

journal_title：Ophthalmic genetics

authors： Nesslinger N,Mitchell G,Strasberg P,MacDonald IM

更新日期：1996-06-01 00:00:00

abstract：:The autoinflammatory syndromes are rare inherited disorders characterized by recurrent attacks of multi-system inflammation caused by genetic mutations that result in abnormal upregulation of key innate immune mediators. The term autoinflammatory syndromes includes a broad variety of disorders, including cryopyrin-ass...

journal_title：Ophthalmic genetics

authors： Tarabishy AB,Hise AG,Traboulsi EI

更新日期：2012-12-01 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：PURPOSE:To characterize the phenotype of two families with high hypermetropia from the Faroe Islands. METHODS:Ophthalmologic evaluation including ultrasound oculometry and anthropometric measurements. RESULTS:Of the 40 examined family members, 15 individuals (8 males, 7 females; ages: 6-77 years; mean: 36.5 years) ha...

journal_title：Ophthalmic genetics

authors： Fuchs J,Holm K,Vilhelmsen K,Rosenberg T,Scherfig E,Fledelius HC

更新日期：2005-03-01 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

abstract：:Several forms of autosomal dominant retinitis pigmentosa (adRP) are caused by mutations in genes encoding proteins that are ubiquitously expressed and involved in the pre-mRNA spliceosome such as PRPF31. This paper provides an overview of the molecular genetics, pathophysiology, and mechanism for incomplete penetrance...

journal_title：Ophthalmic genetics

authors： Utz VM,Beight CD,Marino MJ,Hagstrom SA,Traboulsi EI

更新日期：2013-12-01 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: 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：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：: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