CRB1 has been associated with retinal dystrophy including Leber’s congenital amaurosis and retinitis pigmentosa [9], whereas CRB2 variations are responsible for a wide phenotypic spectrum ranging from a severe prenatal disease with severe renal anomalies variably associated with hydrocephalus to postnatal isolated renal anomalies, with only few cases with retinal involvement [10–18]. Here, CRB2 is linked to Hydrocephalus.