Results 41 to 50 of about 2,008 (179)

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus [PDF]

, 2003
BACKGROUND: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist.
Inglehearn, C.F., Jafri, H., McKibbin, M.A., Mohamed, M.D., Raashed, Y., Topping, N.C   +5 more
core   +1 more source

Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness. [PDF]

Invest Ophthalmol Vis Sci
PURPOSE: To clinically and biochemically characterize a rare autosomal recessive rod-cone dysfunction, with electroretinographic similarities to some forms of stationary night blindness (SNB), associated with biallelic variants in GUCY2D. METHODS: Six patients from five families with a history of longstanding night blindness, no fundus features ...
Ba-Abbad R, Peshenko IV, Daich Varela M, Lin S, Arno G, Mahroo OA, Egan C, Robson AG, Olshevskaya EV, Dizhoor AM, Webster AR.   +10 more
europepmc   +2 more sources

Mutation in the guanine nucleotide-binding protein beta-3 causes retinal degeneration and embryonic mortality in chickens [PDF]

, 2006
PURPOSE. To identify the gene defect that causes blindness and the predisposition to embryonic death in the retinopathy globe enlarged (rge) chicken. METHODS.
Ali, Manir, Burt, David W., Getty, Paul, Hocking, Paul M., Inglehearn, Chris F., Lester, Douglas H., Tummala, Hemanth   +6 more
core   +1 more source

A NovelGUCY2DMutation, V933A, Causes Central Areolar Choroidal Dystrophy

Investigative Opthalmology & Visual Science, 2012
To identify the genetic cause of central areolar choroidal dystrophy (CACD) in a large Northern Irish family.We previously reported linkage of the locus for CACD in this family to an interval of approximately 5 cM on chromosome 17p13 flanked by polymorphic markers D17S1810 and CHLC GATA7B03.
Hughes, Anne E., Meng, Weihua, Lotery, Andrew J., Bradley, Declan T.   +3 more
openaire   +3 more sources

Animal modelling for inherited central vision loss. [PDF]

, 2016
Disease-causing variants of a large number of genes trigger inherited retinal degeneration leading to photoreceptor loss. Because cones are essential for daylight and central vision such as reading, mobility, and face recognition, this review focuses on ...
Aguirre GD, Aguirre GD, Bernstein PS, Du W, Gerke CG, Goldstein O, Hood DC, Miyadera K, Mowat FM, Pang JJ, Parsons JT, Xiao X   +11 more
core   +1 more source

GUCY2D-Related Retinal Dystrophy with Autosomal Dominant Inheritance—A Multicenter Case Series and Review of Reported Data [PDF]

Genes, 2022
To report the clinical phenotype and associated genotype of a European patient cohort with GUCY2D-related autosomal-dominant (AD) cone–/cone–rod dystrophy (COD/CORD), we retrospectively analyzed 25 patients (17 female, range 12–68) with GUCY2D-related AD-COD/CORD from three major academic centers in Europe and reviewed the previously published data of ...
Jonas Neubauer, Leo Hahn, Johannes Birtel, Camiel J. F. Boon, Peter Charbel Issa, M. Dominik Fischer   +5 more
openaire   +3 more sources

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. [PDF]

, 2017
PurposeThe Pakistan Punjab population has been a rich source for identifying genes causing or contributing to autosomal recessive retinal degenerations (arRD).
Akram, Javed, Ayyagari, Radha, Cabrera, Patricia E, Chen, Jianjun, Chen, Yabin, Govindarajan, Gowthaman, Gupta, Nikhil, Hejtmancik, J Fielding, Huang, Li, Jiang, Dan, Jiao, Xiaodong, Jin, Chongfei, Khan, Shaheen N, Li, Jiali, Li, Lin, M'hamdi, Oussama, Ma, Xiaoyin, Ma, Yan, Ma, Zhiwei, Naeem, Muhammad Asif, Riazuddin, S Amer, Riazuddin, Sheikh, Sieving, Paul A, Sun, Wenmin, Tanwar, Mukesh   +24 more
core   +1 more source

Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations

American Journal of Ophthalmology, 2017
To determine outcome measures for a clinical trial of Leber congenital amaurosis (LCA) associated with mutations in the GUCY2D gene.Retrospective observational case series.Twenty-eight patients with GUCY2D-LCA (aged 2-59 years) were studied clinically and with chromatic full-field sensitivity testing (FST), optical coherence tomography (OCT ...
Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania ( host institution ), Jacobson, Samuel G. ( author ), Cideciyan, Artur V. ( author ), Sumaroka, Alexander ( author ), Roman, Alejandro J. ( author ), Charng, Jason ( author ), Lu, Monica ( author ), Choudhury, Shreyasi ( UF author ), Schwartz, Sharon B. ( author ), Heon, Elise ( author ), Fishman, Gerald A. ( author ), Boye, Shannon E. ( UF author )   +11 more
openaire   +3 more sources

Grueneberg ganglion olfactory subsystem employs a cGMP signaling pathway [PDF]

, 2009
The mammalian olfactory sense employs several olfactory subsystems situated at characteristic locations in the nasal cavity to detect and report on different classes of odors. These olfactory subsystems use different neuronal signal transduction pathways,
Fraser, Scott E., Koos, David S., Liu, Cambrian Y.   +2 more
core   +1 more source

A novel recessive GUCY2D mutation causing cone–rod dystrophy and not Leber's congenital amaurosis [PDF]

European Journal of Human Genetics, 2010
Cone-rod dystrophies are inherited retinal dystrophies that are characterized by progressive degeneration of cones and rods, causing an early decrease in central visual acuity and colour vision defects, followed by loss of peripheral vision in adolescence or early adult life. Both genetic and clinical heterogeneity are well known.
Sibel A, Ugur Iseri, Yusuf K, Durlu, Aslihan, Tolun   +2 more
openaire   +2 more sources