Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions

Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypically heterogeneous, and characterised clinically by severe congenital/early infancy visual loss, nystagmus, amaurotic pupils and markedly reduced/absent full-field electroretinograms....

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Detalles Bibliográficos
Autores principales: Kumaran, Neruban, Moore, Anthony T, Weleber, Richard G, Michaelides, Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: British Journal of Ophthalmology 2017
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5574398/
https://www.ncbi.nlm.nih.gov/pubmed/28689169
http://dx.doi.org/10.1136/bjophthalmol-2016-309975

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