Leber congenital amaurosis 15

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Leber congenital amaurosis 152016-11-26T15:10:07+00:00

Leber congenital amaurosis 15

OPHTHALMOLOGY

A severe form of hereditary retinal dystrophy (OMIM:613843) first seen in early infancy, which is characterised by poor vision, nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus

Molecular pathology Defects in TULP1, which encodes a tubby-like protein required for normal development of photoreceptor synapses, photoreceptor function and for long-term survival of photoreceptor cells, cause Leber congenital amaurosis 15. 

References http://www.uniprot.org/uniprot/O00294

http://www.omim.org/entry/613843

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