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early onset severe retinal dystrophy

Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions
Neruban Kumaran, Anthony T Moore, Richard G Weleber, Michel Michaelides

British Journal of Ophthalmology Sep 2017, 101 (9) 1147-1154; DOI: 10.1136/bjophthalmol-2016-309975