先天性视网膜劈裂症自然病程的临床观察

Clinical observation of natural course of congenital retinoschisis

目的观察先天性视网膜劈裂症的自然病程。方法回顾性病例研究。对确诊为先天性视网膜劈裂症患者16例32眼的临床资料、眼底检查、荧光素眼底血管造影(FFA)和光学相干断层扫描(OCT)等进行分析,随访0.5～6a。结果 16例患者均为双眼发病,均有黄斑中心凹劈裂,6例患者合并周边部视网膜劈裂,年龄6～29岁,平均14.2岁。随访中,3眼中心凹劈裂进展为黄斑裂孔,3眼进展为视网膜脱离,1眼玻璃体积血,1眼周边视网膜劈裂向赤道部进展,24眼未见明显改变。结论先天性视网膜劈裂症虽可长期保持稳定,但部分患者病情可进展,应定期进行随访。OCT可作为随访检查的主要工具。

BackgroundCongenital retinoschsis is rare X-linked inherited disorder,mainly affects bilateral retina and is seldom in clinic.Some severe complications,such as retinal detachment and vitreous bleeding,remain difficult to treat.ObjectiveThe aim of this study was to observe the natural course of clinical development in patients with congenital retinoschsis.MethodsThis was a retrospective case-observation study.The clinical data and fundus characteristics of 32 eyes from 16 cases with congenital retinoschsis were analyzed.These patients were diagnosed in West China Hospital through fluorescence fundus fluorescein angiography（FFA）and optical coherence tomography（OCT）.ResultsAll of the 16 cases of congenital retinoschesis were bilateral with the foveoschisis.Peripheral retinoschisis was found in 12 eyes of 6 cases.The patients aged from 6 to 29 years old with the average age 14.2 years.During the follow-up period,3 eyes developed macular hole,and 3 eyes progressed retinal detachment,and 1 eye developed vitreous hemorrhage.The macula was involved in 1 eye with peripheral retinoschisis.Twenty-four eyes presented the stable course.ConclusionThe state of illness in majority of patients with congenital retinoschisis can be stabilized for a long duration.But some complications and illness progress are found in partial patients.Regular follow-up should be performed for the patients with congenital retinoschsis.OCT is a useful tool for the monitoring the manifestation of fundus in congenital retinoschsis.