early-onset severe retinal dystrophy(English)

• part of a genetically and phenotypically heterogeneous group, and characterized clinically by severe congenital/early infancy visual loss, nystagmus, amaurotic pupils and markedly reduced/absent full-field electroretinograms. There is significant overlap between the molecular causes of LCA and EOSRD, with some genes causing both clinical phenotypes. Mutations in RPE65, LRAT and RDH12, more commonly result in an EOSRD phenotype
• ERG, LCA, SECORD, IRD
• Ophthalmology, Congenital disorders
• https://doi.org…mol-2016-309975