Leber congenital amaurosis type 15

Leber congenital amaurosis type 15

A severe retina dystrophy (OMIM:613843) which appears in early life and is characterised by poor vision, nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. 

Molecular pathology
Caused by defects in TULP1, which encodes a so-called tubby-like protein that is required for normal development of photoreceptor synapses, photoreceptor function and for long-term survival of photoreceptor cells.