AIPL1 and Leber congenital amaurosis: After clinical phenotyping, whole-exome sequencing was performed on four families, which revealed two novel and two reported variants of known vision impairment genes, AIPL1, FOXE3, MERTK, and GUCY2D. AIPL1 encodes a molecular chaperon for the key phototransduction enzyme called Phosphodiesterase6 (PDE6), and its pathogenic variants are associated with Leber congenital amaurosis, dominant cone-rod dystrophy and recessive retinitis pigmentosa [2].