GJB2 and retinitis pigmentosa: Patient 46, affected by congenital bilateral profound sensorineural HL and retinitis pigmentosa, was a carrier both of the most frequent variants associated with NSHL (c.35delG, p.(Gly12Valfs * 2) in the GJB2 gene [28]) and of a novel heterozygous frameshift variant in the RPGR gene, which is causative of X-linked retinitis pigmentosa 3 (MIM: #300029).