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.
References in periodicals archive ?
Leber Congenital Amaurosis type 10 (LCA10), the most common type of LCA, is an orphan inherited retinal disease caused by mutations in the CEP290 gene.
Editas Medicine (EDIT) announced the FDA has accepted the company's investigational new drug, or IND, application for EDIT-101, an experimental CRISPR genome editing medicine being investigated for the treatment of Leber Congenital Amaurosis type 10, or LCA10.