Results 91 to 100 of about 2,008 (179)
Non-syndromic retinitis pigmentosa [PDF]
, 2018 Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading cause of visual disability, with a worldwide prevalence of 1:4000.
Verbakel, S.K. (Sanne K.) +8 more
core +2 more sources
Genetic testing for Leber congenital amaurosis
The EuroBiotech Journal, 2017 We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Leber congenital amaurosis (LCA).
Abeshi Andi +5 more
doaj +1 more source
Development of refractive errors - what can we learn from inherited retinal dystrophies? [PDF]
, 2017 PURPOSE: It is unknown which retinal cells are involved in the retina-to-sclera signaling cascade causing myopia. As inherited retinal dystrophies (IRD) are characterized by dysfunction of a single retinal cell type and have a high risk of refractive ...
Born, L.I. (Ingeborgh) van den +8 more
core +1 more source
Acta Ophthalmologica, Volume 103, Issue 3, Page 327-338, May 2025.Abstract Purpose This study aimed to characterize clinical and genetic findings in a Swedish cohort with inherited retinal disease (IRD), identify predictors for achieving a molecular diagnosis and evaluate the effects of increased genetic testing over time.
Karl De Geer +4 more
wiley +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
Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign. [PDF]
, 2013 BackgroundMany genes have been reported as harboring autosomal dominant mutations causing retinal dystrophy. As newly available gene panel sequencing and whole exome sequencing will open these genes up to greater scrutiny, we assess the rate of rare ...
Gorin, Michael B, Strom, Samuel P
core +2 more sources
Genetic testing for cone rod dystrophies
The EuroBiotech Journal, 2017 We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for cone rod dystrophies (CORDs).
Abeshi Andi +5 more
doaj +1 more source
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results
Orphanet Journal of Rare Diseases, 2020 Background Whole exome sequencing (WES) allows for an unbiased search of the genetic cause of a disease. Employing it as a first-tier genetic testing can be favored due to the associated lower incremental cost per diagnosis compared to when using it ...
Ahra Cho +7 more
doaj +1 more source
Selective Gene Loss of Visual and Olfactory Guanylyl Cyclase Genes Following the Two Rounds of Vertebrate-Specific Whole-Genome Duplications [PDF]
, 2020 Photoreceptors convey visual information and come in two flavors; dim-light and bright-light dedicated rod and cones. Both cell types feature highly specialized phototransduction cascades that convert photonic energy into intracellular signals.
Gesemann, Matthias +1 more
core +1 more source
Molecular Genetics &Genomic Medicine, Volume 12, Issue 12, December 2024.A gene panel, supplemented by deep intronic variant screening, genetically resolved 56% of South African inherited retinal disease patients, including 49% of indigenous Africans. This approach was successfully applied in a low‐resource setting, and contributes knowledge from the understudied, genetically diverse African population.
Nicole Midgley +4 more
wiley +1 more source