Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients.

doi:10.1016/j.oret.2021.02.009

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Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients.

Ophthalmology. Retina - 1 Dec 2021

Murakami Yusuke, Koyanagi Yoshito, Fukushima Masatoshi, Yoshimura Marika, Fujiwara Kohta, Akiyama Masato, Momozawa Yukihide, Ueno Shinji, Terasaki Hiroko, Oishi Akio, Miyata Manabu, Ikeda Hanako, Tsujikawa Akitaka, Mizobuchi Kei, Hayashi Takaaki, Fujinami Kaoru, Tsunoda Kazushige, Park Jun Young, Han Jinu, Kim Min, Lee Christopher Seungkyu, Kim Sang Jin, Park Tae Kwann, Joo Kwangsic, Woo Se Joon, Ikeda Yasuhiro, Sonoda Koh-Hei

Abstract excerpt

PURPOSE: To investigate the genotype and long-term clinical phenotype of patients with Bietti crystalline dystrophy (BCD) in Korea and Japan. DESIGN: Retrospective case series. PARTICIPANTS: We analyzed 62 patients with clinical features of BCD who harbor pathogenic biallelic CYP4V2 variants in their homozygote or compound heterozygote. METHODS: Data were collected from patient charts, including age,...

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PMID: 33636399
DOI: 10.1016/j.oret.2021.02.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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