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Published on: September 16, 2020
Geographic and Phenotypic Variability in RHO-Associated Retinopathy: Evidence From a Chinese Cohort and Global
Chenyue Hang1, Tianyuan Zhao1, Zhixuan Chen1
1From the Department of Ophthalmology (C.H., T.Z., Z.C., H.W., L.C., T.Z., Y.J., T.L., J.S., S.Y., Y.G., H.Z., X.J., X.L., H.J., K.Z., X.W., J.C., X.S.), Shanghai General Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai, China; Shanghai Key Laboratory of Ocular Fundus Diseases (C.H., T.Z., Z.C., H.W., L.C., T.Z., Y.J., T.L., J.S., S.Y., Y.G., H.Z., X.J., X.L., H.J., K.Z., X.W., J.C., X.S.), Shanghai, China.
Genetic variations in RHO-associated retinopathy show ethnic differences. Biological classification of variants predicts disease severity, with Class 1, 2, and 3 variants impacting onset and progression.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- RHO-associated retinopathy presents with diverse clinical manifestations.
- Understanding genotype-phenotype correlations is crucial for patient management and therapeutic development.
Purpose of the Study:
- To investigate genotype-phenotype correlations in RHO-associated retinopathy.
- To identify ethnic-specific variant frequencies.
- To compare clinical severity across different variant classes and common mutations.
Main Methods:
- Retrospective cohort study and systematic literature review of 2196 patients.
- Analysis of clinical, genetic, and imaging data from institutional cohorts.
- Categorization of variants by type, biological class (1-7), and comparison of phenotypes.
Main Results:
- Significant geographic divergence in common variants: P23H (North America), P347L and R135W (Europe/Asia).
- Class 2 variants linked to later onset and slower progression; Class 1 and 3 variants associated with earlier onset and aggressive phenotypes.
- R135W (Class 3) identified as a highly aggressive variant with earlier onset and potential macular involvement.
Conclusions:
- This study is the largest integrating ethnic, genotypic, and clinical data for RHO-associated retinopathy.
- Ethnic differences in common variants are substantial.
- Biological classification is clinically relevant for predicting disease course, with R135W and P347L requiring close attention for potential gene therapy prioritization and personalized management.
