Molecular characterization of retinitis pigmentosa in Saudi Arabia.
Year: 2009
Type: article
Study design: Observational Study
Abstract: 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.
Source: PubMed Central
Authors: Mohammed A Aldahmesh, Leen Abu Safieh, Hisham Alkuraya, Ali Al-Rajhi, Hanan Shamseldin, Mais Hashem, Fatemah Alzahrani, Arif O Khan, Faisal Alqahtani, Zuhair Rahbeeni, Mohammed Alowain, Hanif Khalak, Salwa Al-Hazzaa, Brian F Meyer, Fowzan S Alkuraya
Institution: King Faisal Specialist Hospital & Research Centre
Language: English
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W1592569150