The genetic spectrum and clinical features of X-linked juvenile retinoschisis in Central China

ABSTRACT

Purpose

X-linked juvenile retinoschisis (XLRS) is the most common congenital retinoschisis in rare vitreoretinopathy and causes visual disturbances. The study aimed to explore possible genetic mutations associated with XLRS and assess the clinical characteristics in Chinese families.

Methods

Seventeen cases and thirty-four eyes of probands and thirty-nine cases and seventy-eight eyes of their guardians were recruited. Peripheral blood DNA was extracted and PCR-amplified for retinal disease second-generation panel sequencing to screen for mutated genes. Pathogenicity was referred to the guidelines of the American College of Medical Genetics and Genomics (ACMG).

Results

A total of 17 male patients were included, with an average age of 9.73 years (range, 5 ~ 27 years). Clinical data indicate typical macular retinoschisis (97.06%), peripheral retinoschisis (46.67%), retinal holes (32.35%). Fifteen mutations (10 missense mutations, 4 shift mutations, and 3 nonsense mutations) of RS1 gene were identified, including 5 novel mutations. In novel mutations, amino acid conservation analysis shows W33, W50, E62, and G70 were highly conserved, and software predicts mutations to be pathogenic. SWISS-MODEL protein prediction software showed protein structural changes in proband 13.

Conclusions

We have identified and described five novel mutations in the RS1 gene and their corresponding clinical manifestations. These findings not only expand the range of known RS1 mutations and associated clinical phenotypes but also provide a basis for mechanistic studies and diagnosis of XLRS.

KEYWORDS:

• X-linked juvenile retinoschisis
• genetic mutation
• clinical phenotype

Acknowledgments

We are grateful to all patients and relatives participating in the study.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This work was supported by the National Natural Science Foundation of China [82171040].