Retinitis pigmentosa associated with the EYS C2139Y variant: an important cause of blindness in East Asian populations.

Choi Mun ChanTien-En TanKanika JainYasmin BylstraRanjana S MathurRachael W C Tang GdnBrian J H LeeSaumya S JamuarSylvia KamEranga N VithanaWeng Khong LimBeau J Fenner

Published in: Retina (Philadelphia, Pa.) (2023)

The EYS C2139Y variant is common in Singaporean RP patients and other ethnic Chinese populations. Targeted molecular therapy for this single variant could potentially treat a significant proportion of RP cases worldwide.

Keyphrases

end stage renal disease
ejection fraction
chronic kidney disease
newly diagnosed
prognostic factors
cancer therapy
genetic diversity
drug delivery