Results 171 to 179 of about 2,008 (179)

Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis

Ophthalmology, 2003
To study the retinal degeneration in an 11 -year-old patient with Leber congenital amaurosis (LCA) caused by mutation in GUCY2D.Comparative human tissue study.Two subjects with LCA; postmortem eye from one LCA patient and three normal donors.Clinical and visual function studies were performed between the ages of 6 and 10 years in the LCA eye donor and ...
Ann H, Milam, Mark R, Barakat, Nisha, Gupta, Linda, Rose, Tomas S, Aleman, Michael J, Pianta, Artur V, Cideciyan, Val C, Sheffield, Edwin M, Stone, Samuel G, Jacobson   +9 more
openaire   +2 more sources

GUCY2D- OR GUCA1A-RELATED AUTOSOMAL DOMINANT CONE–ROD DYSTROPHY

Retina, 2014
To compare the phenotype of patients with heterozygous mutation in GUCY2D or GUCA1A causing autosomal dominant cone or cone-rod dystrophies.Five patients from one family with GUCA1A and nine patients from four families with GUCY2D mutations were included.
Ditta, Zobor, Eberhart, Zrenner, Bernd, Wissinger, Susanne, Kohl, Herbert, Jägle   +4 more
openaire   +2 more sources

Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D

American Journal of Ophthalmology, 2018
GUCY2D has been associated with autosomal recessive Leber congenital amaurosis and autosomal dominant cone-rod dystrophy. This report expands the phenotype of autosomal recessive mutations to congenital night blindness, which may slowly progress to mild retinitis pigmentosa.Retrospective case series.Multicenter study of 5 patients (3 male, 2 female ...
Maria L, Stunkel, Scott E, Brodie, Artur V, Cideciyan, Wanda L, Pfeifer, Elizabeth L, Kennedy, Edwin M, Stone, Samuel G, Jacobson, Arlene V, Drack   +7 more
openaire   +2 more sources

GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone–rod dystrophies

Documenta Ophthalmologica, 2015
To report the results of the GUCY2D gene mutation analysis in a cohort of Chinese patients with cone or cone-rod dystrophies (COD or CORD) and to describe the clinical features observed in patients with molecularly confirmed COD or CORD.A total of 74 probands clinically diagnosed with COD or CORD were recruited for genetic analysis; these included 15 ...
Feng, Jiang, Ke, Xu, Xiaohui, Zhang, Yue, Xie, Fengge, Bai, Yang, Li   +5 more
openaire   +2 more sources

Autosomal Dominant Cone-Rod Dystrophy with R838H and R838C Mutations in the GUCY2D Gene in Japanese Patients

Japanese Journal of Ophthalmology, 2004
To describe the clinical phenotypes of two Japanese families with autosomal dominant cone-rod dystrophy (CORD) caused by an R838H or R838C mutation.Complete ophthalmological examinations were performed on three affected individuals from two Japanese families with autosomal dominant CORD.
Sei, Ito, Makoto, Nakamura, Yoshitaka, Ohnishi, Yozo, Miyake   +3 more
openaire   +2 more sources

A Mini-review: Animal Models of GUCY2D Leber Congenital Amaurosis (LCA1)

2015
GUCY2D encodes retinal guanylate cylase-1 (retGC1), a protein that plays a pivotal role in the recovery phase of phototransduction. Mutations in GUCY2D are associated with a leading cause of recessive Leber congenital amaurosis (LCA1). Patients present within the first year of life with aberrant or unrecordable electroretinogram (ERG), nystagmus and a ...
openaire   +2 more sources

GUCY2D

2018
Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively, Thiran Jayasundera   +6 more
openaire   +1 more source

Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis.

Human genetics, 2009
Carmen-Laura, Auz-Alexandre, E, Vallespin, J, Aguirre-Lamban, D, Cantalapiedra, A, Avila-Fernandez, C, Villaverde-Montero, E, Ainse, M J, Trujillo-Tiebas, C, Ayuso   +8 more
openaire   +1 more source

Novel human pathological mutations. Gene symbol: GUCY2D. Disease: early onset retinitis pigmentosa.

Human genetics, 2007
A, Avila-Fernandez, E, Vallespin, D, Cantalapiedra, R, Riveiro-Alvarez, A, Gimenez, M J, Trujillo-Tiebas, C, Ayuso   +6 more
openaire   +1 more source