Hereditary Retinal Dystrophy.
Sign Up to like & getrecommendations! Published in 2017 at "Handbook of experimental pharmacology"
DOI: 10.1007/164_2016_91
Abstract: As our understanding of the genetic basis for inherited retinal disease has expanded, gene therapy has advanced into clinical development. When the gene mutations associated with inherited retinal dystrophies were identified, it became possible to… read more here.
Keywords: hereditary retinal; clinical development; disease; gene ... See more keywords
[Molecular genetics in diagnosis of Coats disease: combination of oligogenic variants associated with different forms of hereditary retinal dystrophy].
Sign Up to like & getrecommendations! Published in 2023 at "Vestnik oftalmologii"
DOI: 10.17116/oftalma202313901169
Abstract: Coats disease (OMIM 300216) is a form of hereditary retinal dystrophy, which occurs due to congenital abnormality of retinal vessels and features unilateral exudative vitreoretinopathy. Coats disease mostly occurs sporadically; its genetic cause is still… read more here.
Keywords: retinal dystrophy; coats disease; hereditary retinal; gene ... See more keywords
Clinical Observation and Genotype-Phenotype analysis of ABCA4- related Hereditary retinal degeneration before Gene Therapy.
Sign Up to like & getrecommendations! Published in 2022 at "Current gene therapy"
DOI: 10.2174/1566523222666220216101539
Abstract: BACKGROUND Hereditary retinal degeneration (HRD) is an irreversible eye disease that results in blindness in severe cases. It is most commonly caused by variants in the ABCA4 gene. HRD presents a high degree of clinical… read more here.
Keywords: hereditary retinal; retinal degeneration; clinical observation; gene therapy ... See more keywords
Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Turkish Journal of Ophthalmology"
DOI: 10.4274/tjo.galenos.2021.74944
Abstract: Objectives: Hereditary retinal dystrophies are a rare group of diseases which are heterogeneous in genotype and phenotype and result in total blindness. One of the genetic defects that cause hereditary retinal dystrophy is mutation of… read more here.
Keywords: retinal dystrophy; rpe65 gene; mutation; hereditary retinal ... See more keywords