After the identification of a homozygous truncating mutation in a known disease gene, ABHD12, one patient was re-examined and found to display ataxia, reversing the diagnosis to a neurodegenerative disease, PHARC, that is characterized by polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract. The gene discussed is ABHD12; the disease is retinitis pigmentosa.