Inherited retinal degeneration in Malay and Indian populations of Singapore and Malaysia: a prospective multicentre study.

• Tác giả: Yasmin Bylstra, Choi Mun Chan, Saadia Z Farooqui, Beau J Fenner, Kanika Jain, Saumya S Jamuar, Sylvia Kam, Weng Khong Lim, Penny P W Lott, Ranjana S Mathur, Sandy Sao Su, Tien-En Tan, Rachael W C Tang
• Ngôn ngữ: eng
• Ký hiệu phân loại: 133.5266 Astrology
• Thông tin xuất bản: England : Ophthalmic genetics , 2025
• Bộ sưu tập: NCBI
• ID: 741948

Tóm tắt

PURPOSE: To analyze the phenotypic and genotypic characteristics of inherited retinal degeneration (IRD) patients of Malay and Indian ethnicity from Singapore and Malaysia. 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: 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.