RT Journal Article SR Electronic T1 Clinical and genetic features of retinoschisis in 120 families with RS1 mutations JF British Journal of Ophthalmology JO Br J Ophthalmol FD BMJ Publishing Group Ltd. SP bjophthalmol-2021-319668 DO 10.1136/bjophthalmol-2021-319668 A1 Sainan Xiao A1 Wenmin Sun A1 Xueshan Xiao A1 Shiqiang Li A1 Hualei Luo A1 Xiaoyun Jia A1 Jiamin Ouyang A1 Xueqing Li A1 Yingwei Wang A1 Yi Jiang A1 Panfeng Wang A1 Qingjiong Zhang YR 2021 UL http://bjo.bmj.com/content/early/2021/11/21/bjophthalmol-2021-319668.abstract AB 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.All data relevant to the study are included in the article or uploaded as supplementary information.