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

Eye (2024)Cite this article

Subjects

Abstract

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.

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Fig. 1: Refractive error and visual acuity distribution among disease subtypes.
Fig. 2: Myopia rates and high myopia rates of different age groups among disease subtypes and the general population.
Fig. 3: Refractive error distribution of both eyes (N = 420) among the nine major genotypes after age adjustment using the ANCOVA test.

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Data availability

The data supporting the findings of this study are not publicly accessible due to privacy concerns and can be available from the corresponding author upon reasonable request. The data are stored in a controlled access data repository at National Taiwan University Hospital.

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Author information

Authors and Affiliations

  1. Department of Medical Education, National Taiwan University Hospital, No. 7, Zhongshan S. Rd., Zhongzheng Dist., Taipei City, 10002, Taiwan

    Wan-Chen Tsai

  2. Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Branch, No. 5, Fuxing St., Guishan Dist., Taoyuan City, 33305, Taiwan

    Wan-Chen Tsai

  3. Department of Ophthalmology, National Taiwan University Hospital, No. 7, Zhongshan S. Rd., Zhongzheng Dist., Taipei City, 10002, Taiwan

    Yao-Lin Liu, Tzu-Hsun Tsai, Chang-Hao Yang, Chung-May Yang, Tzyy-Chang Ho, Chang-Ping Lin, Yi-Ting Hsieh, Po-Ting Yeh, Chao-Wen Lin, Tso-Ting Lai & Ta-Ching Chen

  4. Department of Biostatistics, University of Pittsburgh, 130 De Soto Street, Pittsburgh, PA, 15261, USA

    Ying-Ju Lai

  5. Department of Ophthalmology, College of Medicine, National Taiwan University, No. 1, Jen Ai road section 1, Taipei City, 10002, Taiwan

    Chang-Hao Yang & Chung-May Yang

  6. Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, 5F, No. 2, Xuzhou Road, Taipei City, 100, Taiwan

    Pei-Lung Chen

  7. Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, 5F, No. 2, Xuzhou Road, Taipei City, 100, Taiwan

    Pei-Lung Chen

  8. Department of Medical Genetics, National Taiwan University Hospital, 5F, No. 2, Xuzhou Road, Taipei City, 100, Taiwan

    Pei-Lung Chen

  9. Center of Frontier Medicine, National Taiwan University Hospital, No. 7, Zhongshan S. Rd., Zhongzheng Dist., Taipei City, 10002, Taiwan

    Ta-Ching Chen

  10. Research Center for Developmental Biology and Regenerative Medicine, National Taiwan University, No. 7, Zhongshan S. Rd., Zhongzheng Dist., Taipei City, 10002, Taiwan

    Ta-Ching Chen

  11. Department of Medical Research, National Taiwan University Hospital, No. 7, Zhongshan S. Rd., Zhongzheng Dist., Taipei City, 10002, Taiwan

    Ta-Ching Chen

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  1. Wan-Chen Tsai
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Contributions

Wan-Chen Tsai (WT), Yao-Lin Liu (YL), Tzu-Hsun Tsai (TT), Ying-Ju Lai (YL), Chang-Hao Yang (C-HY), Chung-May Yang (C-MY), Tzyy-Chang Ho (TH), Chang-Ping Lin (C-PL), Yi-Ting Hsieh (YH), Po-Ting Yeh (PY), Chao-Wen Lin (C-WL), Tso-Ting Lai (TL), Pei-Lung Chen (PC), and Ta-Ching Chen (TC). Research Design: WT, TC. Data acquisition and/or research execution: WT, YL, TT, C-HY, C-MY, TH, C-PL, YH, PY, C-WL, TL, PC, TC. Data analysis and/or interpretation: WT, YL, TT, YL, TC. Manuscript preparation: WT, YL, TT, YL, TC.

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Correspondence to Ta-Ching Chen.

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Tsai, WC., Liu, YL., Tsai, TH. et al. Relationship between genotype, phenotype, and refractive status in patients of inherited retinal degeneration. Eye (2024). https://doi.org/10.1038/s41433-024-03283-y

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