Purpose: To catalog mutations that underlie retinitis pigmentosa (RP) in Saudi Arabia using a representative sample.
Methods: Fifty-two patients with RP were recruited and their homozygosity mapping, with or without linkage analysis, was used to suggest the causative genes followed by bidirectional sequencing.
Results: Mutations were identified in 94% of our study cohort, including seven that were novel.
Conclusions: Homozygosity mapping is an extremely robust approach in the study of retinitis pigmentosa in the setting of high rates of consanguinity. BBS3 mutations can rarely present as nonsyndromic RP.