Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation

Mutations in the beta subunit of the rod cGMP-phosphodiesterase gene, 2- 5 in the ATP binding cassette receptor gene, 6 and in the TULP1 gene 7 account for a small percentage of Spanish ARRP families. Key points The USH2A gene has been shown to be associated with Usher syndrome type II and recent data indicate that mutations in this gene could also cause non-syndromic autosomal recessive retinitis pigmentosa (ARRP).