Results 61 to 70 of about 1,104 (159)
Scientific Reports, 2022 Inherited retinal diseases (IRDs) are the leading cause of vision loss in the working-age population. We performed a retrospective epidemiological study to determine the genetic basis of IRDs in a large Italian cohort (n = 2790) followed at a single ...
Marianthi Karali +17 more
doaj +1 more source
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)
Orphanet Journal of Rare Diseases, 2020 Background Leber congenital amaurosis (LCA) is a rare retinal disease that is the most frequent cause of congenital blindness in children and the most severe form of inherited retinal dystrophies.
Anna Skorczyk-Werner +3 more
doaj +1 more source
Rapid cohort generation and analysis of disease spectrum of large animal model of cone dystrophy.
PLoS ONE, 2013 Large animal models are an important resource for the understanding of human disease and for evaluating the applicability of new therapies to human patients.
Corinne Kostic +11 more
doaj +1 more source
Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing. [PDF]
PLoS ONE, 2015 PURPOSE:To define the molecular basis of retinal degeneration in consanguineous Pakistani pedigrees with early onset retinal degeneration. METHODS:A cohort of 277 individuals representing 26 pedigrees from the Punjab province of Pakistan was analyzed ...
Bruno Maranhao +14 more
doaj +1 more source
Novel Complex GUCY2D Mutation in Japanese Family with Cone-Rod Dystrophy
Investigative Ophthalmology & Visual Science, 2004 All mutations in the retinal guanylate cyclase gene (GUCY2D) that causes autosomal dominant cone-rod dystrophy (CORD) are associated with an amino acid substitution in codon 838. A novel heterozygous complex missense mutation of I915T and G917R in the GUCY2D gene was found in a Japanese family with autosomal dominant CORD.
Yoshitaka Ohnishi +5 more
openaire +3 more sources
PLoS ONE, 2015 BackgroundHomozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset that
Maleeha Maria +20 more
doaj +1 more source
Consensus guidelines for nomenclature of companion animal inherited retinal disorders
Veterinary Ophthalmology, Volume 28, Issue 3, Page 663-667, May 2025.Abstract Companion animals, namely dogs, cats, and horses, can be affected with many forms of hereditary retinal disease. The number of such diseases characterized in the last decade has increased substantially, and nomenclature is nonstandardized, heterogenous, and confusing.
Freya M. Mowat +3 more
wiley +1 more source
PLoS Medicine, 2006 BackgroundLeber congenital amaurosis (LCA) is a genetically heterogeneous group of retinal diseases that cause congenital blindness in infants and children.
Melissa L Williams +8 more
doaj +1 more source
Genetic testing for central areolar choroidal dystrophy
The EuroBiotech Journal, 2017 We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for central areolar choroidal dystrophy (CACD). CACD is mostly inherited in an autosomal dominant manner.
Abeshi Andi +5 more
doaj +1 more source
Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families. [PDF]
PLoS ONE, 2015 Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP) are retinal degenerative diseases which cause severe retinal dystrophy affecting the photoreceptors.
Sundaramurthy Srilekha +7 more
doaj +1 more source