Objective To investigate the mutations of the gene in Chinese patients with X linked juvenile retinoschisis (XLRS), and to provide the genetic diagnosis and consultation of heredity for the patients and their families. Methods Genomic DNA was isolated from leukocytes of 29 male patients with XLRS, 38 female carriers and 100 normal controls (the patients and the carriers were from 12 families). All 6 exons of XLRS1 gene were amplified by polhism (SSCP) assay. The positions and types of XLRS1 gene mutations were determined by direct sequencing. Results Eleven different XLRS1 mutations were identified in these 12 families, including one frameshift mutation due to base loss of the first exon: c.22delT（L9CfsX20）, one nonsense mutation due to base loss of the first exon (Trp163X), one splice donor site mutation(c.52+2 Trarr;C; IVS1+2T to C), and eight missense mutation due to base replacement（Ser73Pro, Arg102Gln, Asp145His, Arg156Gly, Arg200Cys, Arg209His, Arg213Gln, and Cys223Arg). No gene mutation was detected in the control group. Four new mutations included frmaeshift mutation（L9CfsX20）and mutations of Asp145His, Arg156Gly, and Trp163X at the fifth exon. A newly discovered non-disease-related polymorphism (NSP) was the c.576C to T (Pro192Pro) change at the sixth exon. Conclusion Eleven different XLRS1 mutations were detected, which is the cause of XLRS in Chinese people. The detection of gene mutations may provide the guidance of genetic diagnosis and the consultation of family heredity for the patients and their families. (Chin J Ocul Fundus Dis, 2006, 22: 77-81)
Objective To observe the rate of iris vessels exposure and analyze its relevant factors in normal full-term neonates. Methods A retrospective study. 1855 normal full term neonates, including 947 boys and 908 girls, were enrolled. The mean gestational age (GA) was (38.84±1.10) weeks and mean birth weight (BW) was (3 396.52±402.08) g. There were 1235 neonates from normal term vaginal delivery, 402 cases of cesarean delivery and 218 cases of forceps delivery. All neonates were examined with hand-held portable slit lamp biomicroscopy within 1 to 3 days after birth by two trained ophthalmologist respectively. Iris vessels exposure was defined as radial red blood vessels along iris fibers. Infants were divided into iris vessels exposure group and iris vessels unexposed group according to the findings of slit lamp biomicroscopy. 78 infants with iris vessels exposure were followed up for 42 days after birth till the iris vessels can’t be seen under microscope. The differences between the two groups were compared for gender, mode of delivery (MOD), GA, BW and body length (BL). Multiple logistic regressions were used to determine the factors related to iris vessels exposure. Results There were 298 neonates with iris vessels exposure among 1855 neonates and the rate was 16.1%. 1557 neonates (83.9%) had unexposed iris vessels. There were no different in gender (χ2=0.551) and MOD (χ2=3.036) between iris vessels exposure group and unexposed group (P>0.05), while the differences in GA (χ2=47.216), BW (t=4.603) and BL (t=3.936) between the two groups were statistically significant (P=0.000). Multiple logistic regression analysis revealed that only GA (β=−0.291, odds ratio=0.747, 95% confidence interval: 0.656 - 0.851, P=0.000) was correlated to iris vessels exposure significantly. The iris vessels couldn’t be seen in 77 of 78 infants with iris vessels exposure when followed up to 42 days. Conclusions The iris vessels exposure in normal full-term neonates is frequently observed. There is a significant inverse correlation between GA and iris vessels exposure.