Mutations in the PRPH2 gene cause autosomal dominant retinitis pigmentosa as well as other forms of macular dystrophy and retinopathy. Knowles et al. (1994) used a mononucleotide repeat polymorphism in the peripherin gene to show that PRPH2 was not ...Mutations in the PRPH2 gene cause autosomal dominant retinitis pigmentosa as well as other forms of macular dystrophy and retinopathy. Knowles et al. (1994) used a mononucleotide repeat polymorphism in the peripherin gene to show that PRPH2 was not the site of the mutation in the Dominican kindred. In 2 extended Dominican kindreds, Banerjee et al. (1998) demonstrated a splice site mutation in the TULP1 gene in homozygous state (602280.0005) in affected individuals and heterozygous state in obligate carriers. Among 162 patients with nonsyndromic recessive retinitis pigmentosa and 374 simplex cases of RP, Hagstrom et al. (1998) found 2 who were compound heterozygotes for mutations in the TULP1 gene (e.g., 602280.0001, 602280.0003). Three of the mutations were missense changes affecting the conserved C-terminal region; the fourth mutation (602280.0004) affected a splice donor site upstream of this region. Kondo et al. (2004) found a phe382-to-ser mutation in the TULP1 gene (602280.0006) in a Japanese patient with retinitis pigmentosa and her brother. Although the clinical features of these sibs matched well with previously reported features, the patients lacked severe central vision dysfunction and nystagmus, which had been regarded as characteristic findings at all stages of the disease (Lewis et al., 1999), suggesting that this mutation results in a relatively mild reduction of protein function. Den Hollander et al. (2007) described 5 members of a Surinamese family with RP14 who were compound heterozygous for mutations in the TULP1 gene (602280.0007-602280.0008). All 5 had a severe early-onset retinal dystrophy with a history of nystagmus, low visual acuity, and night blindness since infancy. Scotopic and photopic responses were nonrecordable on electroretinography