Genetic analysis with a single molecule molecular inversion probes-based panel that targets the exons and splice sites of 113 genes associated with retinitis pigmentosa and Leber congenital amaurosis revealed a homozygous rare missense variant in the <i>BBS9</i> gene (c.263C>T;p.(Ser88Leu)). This evidence concerns the gene BBS9 and Leber congenital amaurosis.