Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1

Liu, X; Meng, XH; Yang, LZ; Long, YL; Fujinami-Yokokawa, Y; Ren, JY; Kurihara, T; Tsubota, K; Tsunoda, K; Fujinami, K; Li, SY

Li, SY (corresponding author), Army Med Univ, Southwest Hosp, Southwest Eye Hosp, Third Mil Med Univ, 30 Gaotanyan St, Chongqing 400038, Peoples R China.; Fujinami, K (corresponding author), Natl Hosp Org, Tokyo Med Ctr, Lab Visual Physiol, Div Vis Res,Natl Inst Sensory Organs,Meguro Ku, 2-5-1 Higashigaoka, Tokyo 1528902, Japan.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2020; 184 (3): 694

Abstract

Stargardt disease 1 (STGD1) is the most prevalent retinal dystrophy caused by pathogenic biallelicABCA4variants. Forty-two unrelated patients mostly o......

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