[Detection and prenatal diagnosis for RS1 gene mutations in two Chinese families with X-linked juvenile retinoschisis].

OBJECTIVE: To identify potential mutations of retinoschisis 1 (RS1) gene responsible for X-linked retinoschisis (XLRS) in two Chinese families. METHODS: The 6 exons and flanking intronic regions were analyzed with PCR and direct sequencing. RESULTS: Two RS1 mutations were identified in the two families, which included 1 frameshift mutation (c.573delG, p.Pro192fs) and 1 missense mutation (c.626G>A, p.Arg209His). CONCLUSION: Two RS1 mutations have been identified, among which Pro192fs mutation is discovered for the first time in Chinese population. Above results may enrich our understanding of the clinical manifestations of XLRS and facilitated early diagnosis and genetic counseling for the disease.

[The surgical timing and effects for vitreous hemorrhage caused by ocular blunt trauma].

OBJECTIVE: To investigate the surgical timing and effects for vitreous hemorrhage caused by blunt ocular trauma. METHOD: 116 eyes of vitreous hemorrhage caused by ocular blunt trauma were divided into two groups, non-vitrectomy group (46 eyes) and vitrectomy group (70 eyes). The treating results and follow-up results were compared. RESULTS: 50 of 70 eyes (71.4%) in vitrectomy group and 10 of 46 eyes (21.7%) in non-vitrectomy group achieved a visual acuity of 0.1 or better over a follow-up period of 1 month, which indicated a significant difference between two groups. In the non-vitrectomy group, visual acuity of 10 eyes were better than 0.1, 7 eyes (70.0%) of them improved within 2 weeks of injury. In surgery group, 27.1% underwent only vitrectomy and 70.9% needed combining with other manipulations. In vitrectomy group the retina detachment was found in 3 eyes (4.3%) post-operatively and were cured by second operation. In non-vitrectomy group, the retinal detachment was found in 14 eyes (30.4%) during the follow-up period, and 8 eyes (72.7%) of 11 eyes received operation were cured. CONCLUSION: Early vitreous surgery can improve curative effect for vitreous hemorrhage caused by blunt ocular trauma when no improvement was observed after applied drugs 2 - 3 weeks.