TY - JOUR
T1 - Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients
AU - Murakami, Yusuke
AU - Koyanagi, Yoshito
AU - Fukushima, Masatoshi
AU - Yoshimura, Marika
AU - Fujiwara, Kohta
AU - Akiyama, Masato
AU - Momozawa, Yukihide
AU - Ueno, Shinji
AU - Terasaki, Hiroko
AU - Oishi, Akio
AU - Miyata, Manabu
AU - Ikeda, Hanako
AU - Tsujikawa, Akitaka
AU - Mizobuchi, Kei
AU - Hayashi, Takaaki
AU - Fujinami, Kaoru
AU - Tsunoda, Kazushige
AU - Park, Jun Young
AU - Han, Jinu
AU - Kim, Min
AU - Lee, Christopher Seungkyu
AU - Kim, Sang Jin
AU - Park, Tae Kwann
AU - Joo, Kwangsic
AU - Woo, Se Joon
AU - Ikeda, Yasuhiro
AU - Sonoda, Koh Hei
N1 - Publisher Copyright:
© 2021 American Academy of Ophthalmology
PY - 2021/12
Y1 - 2021/12
N2 - 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.
AB - 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.
KW - Bietti crystalline dystrophy
KW - CYP4V2
KW - East Asia
KW - Genotype-phenotype
UR - https://www.scopus.com/pages/publications/85103717688
U2 - 10.1016/j.oret.2021.02.009
DO - 10.1016/j.oret.2021.02.009
M3 - Article
C2 - 33636399
AN - SCOPUS:85103717688
SN - 2468-6530
VL - 5
SP - 1269
EP - 1279
JO - Ophthalmology Retina
JF - Ophthalmology Retina
IS - 12
ER -