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Updated: Jun 18, 2026
A Rhodopsin Transport Assay by High-Content Imaging Analysis
Published on: January 16, 2019
Molecular characterization of retinitis pigmentosa in Saudi Arabia
Mohammed A Aldahmesh1, Leen Abu Safieh, Hisham Alkuraya
1Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
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.
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