Study examines relationship between genotype, phenotype, and refractive status in patients of inherited retinal degeneration
Researchers at National Taiwan University Hospital concluded that significant differences were observed in visual acuity, refractive state and myopia rate between patients with inherited retinal disease and the general population.
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Investigators at National Taiwan University Hospital conducted research to elucidate the relationship between inherited retinal disease, visual acuity and refractive error development in Asian patients.
In the study, published in the British Journal of Cancer, 500 phakic eyes with refractive data were analyzed in this retrospective cohort. Diseases were categorized by clinical phenotypes, and the prevalent genotypes identified in the Taiwan Inherited Retinal Degeneration Project were analyzed. Consecutive surveys in Taiwan have provided the rates of myopia in the general population.1
Results
The researchers noted they observed no differences among the disease phenotypes with respect to myopia (P = 0.098) and high myopia rates (P = 0.037). They added that 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 detected 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.1
The researchers also noted in the study that 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 RDH12mutations.
Conclusions
The researchers concluded that 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 diopters found in patients with Leber’s congenital amaurosis.
“The heterogeneity of disease-causing genes in Asian patients may lead to variable refractive state,” they concluded.
