Relationship between genotype, phenotype, and refractive status in patients of inherited retinal degeneration

• Published in: Eye (London) 2024-12, Vol.38 (17), p.3301-3308
• Main Authors: Tsai, Wan-Chen, Liu, Yao-Lin, Tsai, Tzu-Hsun, Lai, Ying-Ju, Yang, Chang-Hao, Yang, Chung-May, Ho, Tzyy-Chang, Lin, Chang-Ping, Hsieh, Yi-Ting, Yeh, Po-Ting, Lin, Chao-Wen, Lai, Tso-Ting, Chen, Pei-Lung, Chen, Ta-Ching
• Format: Article
• Language: English
• Subjects: 45/23; 631/208/2489/144; 692/308/174; 692/699/3161/3175; Acuity; Adolescent; Adult; Aged; Asian People - genetics; Child; Disease; Female; Genotype; Genotypes; Humans; Laboratory Medicine; Male; Medicine; Medicine & Public Health; Middle Aged; Mutation; Myopia; Myopia - genetics; Myopia - physiopathology; Ophthalmology; Pharmaceutical Sciences/Technology; Phenotype; Phenotypes; Refraction, Ocular - genetics; Refraction, Ocular - physiology; Refractive Errors - genetics; Refractive Errors - physiopathology; Retina; Retinal degeneration; Retinal Degeneration - genetics; Retinal Degeneration - physiopathology; Retinitis pigmentosa; Retrospective Studies; Surgery; Surgical Oncology; Taiwan - epidemiology; USH2A protein; Visual acuity; Visual Acuity - physiology; Young Adult
• ISSN: 0950-222X; 1476-5454; 1476-5454
• DOI: 10.1038/s41433-024-03283-y

Background To elucidate the relationship between inherited retinal disease, visual acuity and refractive error development in Asian patients. Subjects Five hundred phakic eyes with refractive data were analysed in this retrospective cohort. Diseases were categorized by clinical phenotypes, and the prevalent genotypes identified in the Taiwan Inherited Retinal Degeneration Project were analysed. Consecutive surveys in Taiwan have provided the rates of myopia in the general population. Results No differences were observed among the disease phenotypes with respect to myopia ( P  = 0.098) and high myopia rates ( P  = 0.037). The comparison of refractive error between retinitis pigmentosa and diseases mainly affecting the central retina showed no difference, and the refraction analyses in diseases of different onset ages yielded no significance. Moreover, there was no difference in the myopia rate between the diseases and general population. Among the genotypes, a higher spherical equivalent was seen in RPGR and PROM1 -related patients and emmetropic trends were observed in patients with CRB1 and PRPF31 mutations. Furthermore, significantly poorer visual acuity was found in ABCA4 , CRB1 and PROM1 -related patients, and more preserved visual acuity was seen in patients with EYS , USH2A , and RDH12 mutations. Conclusions No significant differences were observed in visual acuity, refractive state and myopia rate between patients with inherited retinal disease and the general population, and different subtypes of inherited retinal disease shared similar refractive state, except for higher cylindrical dioptres found in patients with Leber’s congenital amaurosis. The heterogeneity of disease-causing genes in Asian patients may lead to variable refractive state.