METHODS: Ethnic Malay and Indian IRD patients were consecutively enrolled from retina clinics in Singapore and Malaysia. Phenotypic and genetic data were reviewed.
RESULTS: A total of 100 unrelated individuals (Malay: n = 46, Indian: n = 54) were enrolled. Sixteen distinct IRD phenotypes were identified, with nonsyndromic retinitis pigmentosa (RP) comprising 46% of all cases. Stargardt disease and cone-rod dystrophy accounted for 20% and 11% of cases, respectively. Exome sequencing yielded genotypes in 64.3% of Malay and 68.9% of Indian cases. Variants in ABCA4 were the most common cause of IRD overall. Recurrent variants were identified in ABCA4, GUCY2D, PRPH2, and TULP1 for Malays, and in ABCA4 and MFSD8 (CLN7) for Indians. Homozygosity was more frequent among Indians than Malays (58.1% vs. 19.2%; p = 0.003).
CONCLUSIONS: This study demonstrated diverse phenotypic and genotypic outcomes in Malay and Indian populations of Singapore and Malaysia, with distinct differences between them. Homozygosity was common among ethnic Indian IRD cases, explaining phenotypic diversity. These findings inform the identification of regionally relevant IRDs for developing targeted therapies in Malay and Indian patients from Southeast Asia.
METHODS: The present aims to examine the impact of CFH rs1061170 (Y402H), C2 rs9332739 (E318D), and C3 rs2230199 (R102G) gene polymorphisms and AMD risk, in addition, Deleterious missense SNPs in CFH, C2, and C3 were analyzed for stability, conservation, and structural impact using multiple computational approaches. Relevant studies were searched in PubMed, Web of Science, and Google Scholar databases between the years Jan 2020 and 30 April 2026 and covered a total of nine case-control articles.
RESULTS: Meta-analysis demonstrated significant associations of CFH rs1061170 and C3 rs2230199 polymorphisms with AMD susceptibility under specific genetic models (p