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Article

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

The British journal of ophthalmology - 1 Sept 2017

Kumaran Neruban, Moore Anthony T, Weleber Richard G, Michaelides Michel

Abstract excerpt

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. The vast genetic heterogeneity of inherited retinal disease has been established over the last 10 - 20 years, with...

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Identifiers

PMID: 28689169
DOI: 10.1136/bjophthalmol-2016-309975
PMCID: PMC5574398

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