Background/aims X-linked retinoschisis (XLRS), associated with RS1, is the most common type of X-linked retinopathy in children. This study aimed to identify clinical and genetic features of retinoschisis in 120 families with RS1 variants in China.
Methods RS1 variants were collected from our in-house exome data and were predicted by multiple-step bioinformatics analysis. Clinical data of 122 patients from 120 families with potential pathogenic RS1 variants were analysed and summarised, respectively.
Result Totally, 79 hemizygous variants (53 missense, 25 truncation and 1 indel), were detected. All except one (78/79, 98.7%), including 22 novels, were classified as potential pathogenic and detected exclusively in 120 families with retinoschisis. Clinical data demonstrated an average age of presentation at 5 years (1 month–41 years). Macular changes were classified as macular schisis (87.5%), macular atrophy (10.7%), normal (0.9%) and unclassified (0.9%). Patients with macular atrophy had older age but similar visual acuity compared with macular schisis. Peripheral retinal changes included flat retinoschisis (52.4%), bullous retinoschisis (BRS) (10.7%) and normal-like (36.9%) patients. Spontaneous regression was observed in two patients with BRS on follow-up examination. Visual acuity in the peripheral retinoschisis group was worse than that without peripheral retinoschisis.
Conclusion Almost all rare RS1 variants were potential pathogenic. All patients with RS1 pathogenic variants showed detectable characteristics in the macula and/or peripheral retina. Our data on RS1 variants and associated clinical phenotypes may be of value for clinical diagnosis and genetic test of retinoschisis.
Data availability statement
All data relevant to the study are included in the article or uploaded as supplementary information.
Statistics from Altmetric.com
Contributors QZ designed the study. XX, XJ, SL and QZ recruited the individuals with different forms of eye conditions. XX, SX and QZ collected the clinical records. XX, SL, WS, PW and QZ performed analysis of whole exome sequencing or targeted exome sequencing. SX, WS, and HL performed the bioinformatic analysis. XL, YW, YJ, SX and WS confirmed the variants by Sanger sequencing and conducted statistical analysis of clinical data. SX, WS and PW discussed the results and wrote the manuscript. PW and QZ made the critical revision of the manuscript. All authors reviewed and approved the manuscript. QZ was the guarantor of this article who is responsible for the overall content.
Funding This work was supported by National Natural Science Foundation of China (81970837), the fundamental research funds of the state key laboratory of ophthalmology (3030901010116) and the Science and Technology Planning Projects of Guangdong Province (2020B1212060033).
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.