Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)3 (OMIM 612674) is a rare autosomally recessive neurological disorder caused by homozygous or compound heterozygous mutations in the Abhd12 gene on chromosome 20p11 in humans (1, –, 4). This evidence concerns the gene ABHD12 and retinitis pigmentosa.