Clinical and genetic features of retinoschisis in 120 families withRS1mutations
| Autor: | Xueqing Li, Shiqiang Li, Hualei Luo, Xueshan Xiao, Sainan Xiao, Yi Jiang, Xiaoyun Jia, Yingwei Wang, Jiamin Ouyang, Panfeng Wang, Qingjiong Zhang, Wenmin Sun |
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| Rok vydání: | 2021 |
| Předmět: |
Retina
medicine.medical_specialty Visual acuity business.industry Retinoschisis Retinal medicine.disease Sensory Systems Cellular and Molecular Neuroscience Ophthalmology chemistry.chemical_compound medicine.anatomical_structure chemistry medicine Missense mutation medicine.symptom Indel business Exome Retinopathy |
| Zdroj: | British Journal of Ophthalmology. 107:367-372 |
| ISSN: | 1468-2079 0007-1161 |
| Popis: | Background/aimsX-linked retinoschisis (XLRS), associated withRS1, 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 withRS1variants in China.MethodsRS1variants 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 pathogenicRS1variants were analysed and summarised, respectively.ResultTotally, 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.ConclusionAlmost all rareRS1variants were potential pathogenic. All patients withRS1pathogenic variants showed detectable characteristics in the macula and/or peripheral retina. Our data onRS1variants and associated clinical phenotypes may be of value for clinical diagnosis and genetic test of retinoschisis. |
| Databáze: | OpenAIRE |
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