Allelic and phenotypic heterogeneity in ABCA4 mutations.

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：: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

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：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：: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：: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：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：PURPOSE:To describe and compare ocular findings in patients with Hermansky-Pudlak syndrome (HPS) type 1 and 3. METHODS:This is a retrospective case series of 64 patients with HPS from 1999 to 2009 evaluated at an outpatient private ophthalmologic clinic. Patients underwent genetic analysis of selected albinism (Tyrosi...

journal_title：Ophthalmic genetics

authors： Jardón J,Izquierdo NJ,Renta JY,García-Rodríguez O,Cadilla CL

更新日期：2016-01-01 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：: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：:Etiological investigation of a 15-year-old boy with left ophthalmic artery occlusion led us to a diagnosis of neurofibromatosis type I as there were numerous large cafe-au-lait spots, axillary freckling, and brain MRI changes consistent with a hamartoma. In light of the present case, ophthalmic artery occlusion may be...

journal_title：Ophthalmic genetics

authors： Saatci AO,Saylam GS,Yasti ZO,Söylev M,Saatci I,Kavukçu S,Memişoğlu B

更新日期：1998-06-01 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：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 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：: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: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：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：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: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：: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：: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：: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：: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：: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 report novel mutations in the FZD4 and LRP5 genes, associated with familial exudative vitreoretinopathy (FEVR), and to correlate with clinical features of 7 FEVR patients. Methods: In this retrospective case series, 7 patients who had undergone genetic panel testing and carried a diagnosis of FEVR were ide...

journal_title：Ophthalmic genetics

authors： Carrera W,Ng C,Desler C,Jumper JM,Agarwal A

更新日期：2020-12-10 00:00:00

abstract：:Usher syndrome has classically been described as a combination of hearing loss and rod-cone dystrophy; vestibular dysfunction is present in many patients. Three distinct clinical subtypes were documented in the late 1970s. Genotyping efforts have led to the identification of several genes associated with the disease. ...

journal_title：Ophthalmic genetics

authors： Nolen RM,Hufnagel RB,Friedman TB,Turriff AE,Brewer CC,Zalewski CK,King KA,Wafa TT,Griffith AJ,Brooks BP,Zein WM

更新日期：2020-10-01 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：BACKGROUND:MSX2 mutations are a very rare cause of craniosynostosis. Gain-of-function mutations may lead to the Boston-type craniosynostosis with limb defects and refraction errors, whereas loss-of-function mutations causes primary osseous defects such as enlarged parietal foramina. MATERIALS AND METHODS:Herein we rep...

journal_title：Ophthalmic genetics

authors： Plaisancié J,Collet C,Pelletier V,Perdomo Y,Studer F,Fradin M,Schaefer E,Speeg-Schatz C,Bloch-Zupan A,Flori E,Dollfus H

更新日期：2015-01-01 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