Leber congenital amaurosis type 10

Leber congenital amaurosis type 10

A severe autosomal recessive retinal dystrophy (OMIM:611755) causing severe visual impairment at birth or in early infancy, accompanied by olfactory dysfunction. 

Molecular pathology
Caused by defects of CEP290, which encodes a protein of the tectonic-like complex that is required for tissue-specific ciliogenesis and may regulate cilia membrane composition.