X连锁视网膜裂孔(XLRS)是一种视网膜营养不良,导致神经视网膜裂孔并导致视敏度降低。本研究旨在探讨中国早发性XLRS患者的临床表现和视网膜裂素1(RS1)突变。
招募了38名早发性XLRS先证者,进行了全面的眼科检查。使用靶向基因组来测试RS1突变。
所有先证者都有RS1半合子突变,包括16个已知突变和14个新突变。中位发病年龄为2岁(范围0.1-6岁)。发病年龄≤1岁的前兆。有更多的并发症(视网膜脱离和玻璃体出血,p<0.001),与发病年龄>1岁的先证者相比,盘状结构域外的突变更多,非移码突变更多。77.27%的先证者存在黄斑和外周受累,53.57%的先证者存在内核层和外核层分裂。视网膜电图显示电负性波形。在三个先证者的单侧眼中存在层状黄斑裂孔和黄斑裂孔的相对罕见表型。
总之,早期发作的XLRS出现了更严重的并发症,需要密切监测,此处说明的临床表现可能有助于视网膜裂开的早期诊断.
X-linked retinoschisis (XLRS) is one type of retinal dystrophy leading to the schisis of the neural retina and causing reduced visual acuity. The study aimed to investigate the clinical manifestations and retinoschisin 1 (RS1) mutations in Chinese patients with early onset XLRS.
Thirty-eight probands with early onset XLRS were recruited, comprehensive ophthalmic examination was performed. A targeted gene panel was used to test the RS1 mutations.
All probands had RS1 hemizygous mutations including 16 known and 14 novel mutations. The median onset age was 2 years old (range 0.1-6 years). Probands with onset age ≤1 years. had more complications (retinal detachment and vitreous hemorrhage, p < 0.001), more mutations outside the discoidin domain and more non-frameshift mutations than probands with onset age >1 years. Macular and peripheral involvement was present in 77.27% of probands, and inner and outer nuclear layer splitting were present in 53.57% of probands. Electroretinography showed an electronegative waveform. The relatively rare phenotypes of lamellar macular hole and macular hole were present in a unilateral eye in three probands.
In conclusion, the early onset XLRS developed more severe complications which need close monitoring and clinical manifestations illustrated here may facilitate the early diagnosis of retinoschisis.