The central retinal thickness and its related genotype in ABCA4-related retinopathy

• Published in: Eye (London) 2024-10, Vol.38 (14), p.2718-2723
• Main Authors: Wang, Yimin, Li, Tong, Yu, Suqin, Gong, Yuanyuan, Zhang, Min, Wu, Yidong, Liu, Wenjia, Sun, Junran, Chen, Jieqiong, Sun, Xiaodong
• Format: Article
• Language: English
• Subjects: 38/43; 692/499; 692/699/3161/3175; Acuity; Adolescent; Adult; Age; ATP-Binding Cassette Transporters - genetics; Atrophy; Child; Disease; DNA Mutational Analysis; Families & family life; Female; Fluorescein Angiography - methods; Genotype; Genotype & phenotype; Genotypes; Hospitals; Humans; Laboratory Medicine; Male; Medicine; Medicine & Public Health; Middle Aged; Mutation; Ophthalmology; Patients; Pharmaceutical Sciences/Technology; Photoreceptors; Retina; Retina - diagnostic imaging; Retina - pathology; Retinopathy; Retrospective Studies; Statistical analysis; Surgery; Surgical Oncology; Tomography; Tomography, Optical Coherence - methods; Visual acuity; Visual Acuity - physiology; Young Adult
• ISSN: 0950-222X; 1476-5454; 1476-5454
• DOI: 10.1038/s41433-024-03104-2

Purpose To further explore the influence of genotype, including mutation type and structural domain, on the severity of macular atrophy, we measured the central retinal thickness (CRT) in patients with ABCA4 -related retinopathy. Methods A total of 66 patients were included in the cohort. This was a retrospective investigation. The patients were tested using whole exon sequencing and ophthalmic exams, including slip lamp exams, best-corrected visual acuity, optical coherence tomography, fundus photo, and fundus autofluorescence. Results In this study, we discovered that mutations on nucleotide binding domains (NBD) lead to less CRT (45.00 ± 25.25μm, 95% CI: 31.54–58.46) had significantly less CRT than the others (89.75 ± 71.17μm, 95% CI: 30.25–149.25, p  = 0.032), and could accelerate the rate of CRT decrease. Conclusions Our study provides new perspectives in the understanding of ABCA4 -related retinopathy.