Ontology highlight
ABSTRACT:
SUBMITTER: Diakatou M
PROVIDER: S-EPMC6567127 | biostudies-literature | 2019 May
REPOSITORIES: biostudies-literature
International journal of molecular sciences 20190523 10
<b>:</b> Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of diseases with more than 250 causative genes. The most common form is retinitis pigmentosa. IRDs lead to vision impairment for which there is no universal cure. Encouragingly, a first gene supplementation therapy has been approved for an autosomal recessive IRD. However, for autosomal dominant IRDs, gene supplementation therapy is not always pertinent because haploinsufficiency is not the only ca ...[more]