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RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT : An Important Cause of Blindness in East Asian Populations.

Retina (Philadelphia, Pa.) - 1 Oct 2023

Chan Choi Mun, Tan Tien-En, Jain Kanika, Bylstra Yasmin, Mathur Ranjana S, Tang Rachael W C, Lee Brian J H, Jamuar Saumya S, Kam Sylvia, Vithana Eranga N, Lim Weng Khong, Fenner Beau J

Abstract excerpt

PURPOSE: The study aimed to describe the phenotypic features of retinitis pigmentosa (RP) associated with the previously described EYS C2139Y variant in Singaporeans and establish the importance of this variant as a prevalent cause of RP among East Asians. METHODS: A clinical phenotyping and exome-sequencing study was conducted on consecutive patients with nonsyndromic RP. Epidemiological analysis was performed...

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PMID: 37418643
DOI: 10.1097/IAE.0000000000003874

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