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

 Yusuke Murakami  ;  Yoshito Koyanagi  ;  Masatoshi Fukushima  ;  Marika Yoshimura  ;  Kohta Fujiwara  ;  Masato Akiyama  ;  Yukihide Momozawa  ;  Shinji Ueno  ;  Hiroko Terasaki  ;  Akio Oishi  ;  Manabu Miyata  ;  Hanako Ikeda  ;  Akitaka Tsujikawa  ;  Kei Mizobuchi  ;  Takaaki Hayashi  ;  Kaoru Fujinami  ;  Kazushige Tsunoda  ;  Jun Young Park  ;  Jinu Han  ;  Min Kim  ;  Christopher Seungkyu Lee  ;  Sang Jin Kim  ;  Tae Kwann Park  ;  Kwangsic Joo  ;  Se Joon Woo  ;  Yasuhiro Ikeda  ;  Koh-Hei Sonoda 
 OPHTHALMOLOGY RETINA, Vol.5(12) : 1269-1279, 2021-12 
Journal Title
Issue Date
Bietti crystalline dystrophy ; CYP4V2 ; East Asia ; Genotype-phenotype
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, best-corrected visual acuity (BCVA), Goldmann perimetry results, fundus photography, OCT findings, fundus autofluorescence results, and electroretinography findings. We compared the clinical course of the patients with homozygous c.802-8_810de117insGC [exon7del], the most common mutation in the East Asian population, with those of the patients with other genotypes.

Main outcome measures: Best-corrected visual acuity, visual field (VF), and their changes during follow-up.

Results: The mean age at the first visit was 55.2 years, with a mean follow-up of 7.1 years. The mean BCVAs at the first and last visits were 0.28 logarithm of the minimum angle of resolution (logMAR) and 0.89 logMAR, respectively. In genetic testing, c.802-8_810de117insGC was detected in 86 of 124 alleles of the patients, and 36 patients were homozygous for this mutation. The age, BCVA, VF area, central foveal thickness, and abnormal hypoautofluorescent area at either the first or last visit were not different between the exon7del homozygotes and the others. The mean BCVA changes per year were 0.089 logMAR in the exon7del homozygotes and 0.089 logMAR in the others. An age- and gender-adjusted linear regression analysis showed no association between the exon7del homozygote status and the rate of vision loss. Characteristic crystalline deposits in the posterior pole were generally observed in younger patients and disappeared over time along with progressive retinochoroidal atrophy.

Conclusions: Patients with BCD and a homozygote for c.802-8_810de117insGC accounted for more than 50% of this cohort of Korean and Japanese patients, and the clinical effect of this deleterious variant was not severe in the spectrum of CYP4V2 retinopathy.
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1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Min(김민) ORCID logo https://orcid.org/0000-0003-1873-6959
Lee, Christopher Seungkyu(이승규) ORCID logo https://orcid.org/0000-0001-5054-9470
Han, Jinu(한진우) ORCID logo https://orcid.org/0000-0002-8607-6625
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