Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.

Scientific Reports
Yu Fujinami-YokokawaJapan Eye Genetics Consortium

Abstract

Inherited retinal disorder (IRD) is a leading cause of blindness, and CRX is one of a number of genes reported to harbour autosomal dominant (AD) and recessive (AR) causative variants. Eighteen patients from 13 families with CRX-associated retinal disorder (CRX-RD) were identified from 730 Japanese families with IRD. Ophthalmological examinations and phenotype subgroup classification were performed. The median age of onset/latest examination was 45.0/62.5 years (range, 15-77/25-94). The median visual acuity in the right/left eye was 0.52/0.40 (range, -0.08-2.00/-0.18-1.70) logarithm of the minimum angle of resolution (LogMAR) units. There was one family with macular dystrophy, nine with cone-rod dystrophy (CORD), and three with retinitis pigmentosa. In silico analysis of CRX variants was conducted for genotype subgroup classification based on inheritance and the presence of truncating variants. Eight pathogenic CRX variants were identified, including three novel heterozygous variants (p.R43H, p.P145Lfs*42, and p.P197Afs*22). A trend of a genotype-phenotype association was revealed between the phenotype and genotype subgroups. A considerably high proportion of CRX-RD in ADCORD was determined in the Japanese cohort (39.1%), often...Continue Reading

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Citations

Aug 21, 2020·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Kaoru FujinamiUNKNOWN Japan Eye Genetics Consortium study group
Sep 3, 2020·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Kaoru FujinamiUNKNOWN Japan Eye Genetics Consortium Study Group
Apr 22, 2021·The British Journal of Ophthalmology·Yu Fujinami-YokokawaUNKNOWN Japan Eye Genetics Study (JEGC) Group
Jul 25, 2020·American Journal of Ophthalmology·Lizhu YangUNKNOWN East Asia Inherited Retinal Disease Society Study Group

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Methods Mentioned

BETA
exome sequencing

Software Mentioned

Phenopolis
MutationTaster

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