The remaining family was originally diagnosed as USH3, but the diagnosis was revised to PHARC (a neurodegenerative disease characterized by polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract) after the identification of a homozygous mutation in ABHD12 and clinical re-evaluation [47]. The gene discussed is ABHD12; the disease is retinitis pigmentosa.