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Войти в исследования Frontiers in genetics · 2026
Clinical characterization and molecular analysis of X-linked juvenile retinoschisis in a northern Chinese cohort.
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Sun Huihui, Shi Jindou, Wang Jiancang, Yang Suling, Liu Xiexie, Jin Peiyao, Zheng Zheng
Аннотация
PURPOSE: This study aims to explore the clinical features and genetic findings associated with X-linked juvenile retinoschisis (XLRS) in affected patients.
METHODS: This study included 16 patients with XLRS from 13 unrelated families between 2016 and 2024. Genomic DNA from peripheral blood leukocytes of the probands were subjected to whole-exome sequencing or direct sequence. Comprehensive analyses of molecular genetic profiles and detailed ophthalmic evaluations were performed.
RESULTS: We identified 12 retinoschisin 1 (RS1) variants, and five of them were novel. Missense variants (7/9, 75%) in the discoidin domain were the most common mutations. All 16 patients aged 4-45 years old were males, and the mean visual acuity was 0.58 ± 0.49 (Log MAR). The funduscopic observations were consistent with typical XLRS presentations. Notably, distinctive clustered pigmentation exhibited 75% penetrance (3/4 cases) in individuals harboring the novel Q43* mutation. Optical coherence tomography revealed macular schisis in 27 eyes (87.1%), peripheral schisis in six eyes (19.35%), and retinal atrophic changes in five eyes (16.13%). Schisis predominantly affected the inner nuclear layer (27/31, 87.10%). Additionally, other less common abnormalities included asymmetric schisis in patients with the R182C variant, presenting with schisis in one eye and a relatively normal fellow eye. Furthermore, two individuals with the Q43* nonsense mutation exhibited mild electroretinogram abnormalities with a preserved b-to-a amplitude ratio. Given these findings, larger multicenter studies are warranted to validate the observed associations.
CONCLUSION: This study comprehensively analyzed the genetic and clinical features of XLRS in a northern Chinese cohort. Five novel variants were identified, expanding the known mutational spectrum and enriching the clinical manifestation. Distinct pigment clusters (Q43*) and asymmetric schisis (R182C) appeared consistently within our limited cohort carrying specific mutations, which may potentially facilitate the diagnosis of XLRS.
METHODS: This study included 16 patients with XLRS from 13 unrelated families between 2016 and 2024. Genomic DNA from peripheral blood leukocytes of the probands were subjected to whole-exome sequencing or direct sequence. Comprehensive analyses of molecular genetic profiles and detailed ophthalmic evaluations were performed.
RESULTS: We identified 12 retinoschisin 1 (RS1) variants, and five of them were novel. Missense variants (7/9, 75%) in the discoidin domain were the most common mutations. All 16 patients aged 4-45 years old were males, and the mean visual acuity was 0.58 ± 0.49 (Log MAR). The funduscopic observations were consistent with typical XLRS presentations. Notably, distinctive clustered pigmentation exhibited 75% penetrance (3/4 cases) in individuals harboring the novel Q43* mutation. Optical coherence tomography revealed macular schisis in 27 eyes (87.1%), peripheral schisis in six eyes (19.35%), and retinal atrophic changes in five eyes (16.13%). Schisis predominantly affected the inner nuclear layer (27/31, 87.10%). Additionally, other less common abnormalities included asymmetric schisis in patients with the R182C variant, presenting with schisis in one eye and a relatively normal fellow eye. Furthermore, two individuals with the Q43* nonsense mutation exhibited mild electroretinogram abnormalities with a preserved b-to-a amplitude ratio. Given these findings, larger multicenter studies are warranted to validate the observed associations.
CONCLUSION: This study comprehensively analyzed the genetic and clinical features of XLRS in a northern Chinese cohort. Five novel variants were identified, expanding the known mutational spectrum and enriching the clinical manifestation. Distinct pigment clusters (Q43*) and asymmetric schisis (R182C) appeared consistently within our limited cohort carrying specific mutations, which may potentially facilitate the diagnosis of XLRS.