Clinical and genetic characteristics of 10 Japanese patients withPROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population

Fujinami, K; Oishi, A; Yang, LZ; Arno, G; Pontikos, N; Yoshitake, K; Fujinami-Yokokawa, Y; Liu, X; Hayashi, T; Katagiri, S; Mizobuchi, K; Mizota, A; Shinoda, K; Nakamura, N; Kurihara, T; Tsubota, K; Miyake, Y; Iwata, T; Tsujikawa, A; Tsunoda, K

Fujinami, K (corresponding author), Natl Hosp Org Tokyo Med Ctr, Natl Inst Sensory Organs, Div Vis Res, Lab Visual Physiol, 2-5-1 Higashigaoka, Tokyo 1528902, Japan.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2020; 184 (3): 656

Abstract

Variants in thePROM1gene are associated with cone (-rod) dystrophy, macular dystrophy, and other phenotypes. We describe the clinical and genetic char......

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