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Stickler综合征一家系

应用液压冲击颅脑损伤仪建立大鼠外伤性视神经损伤动物模型

Objective　To observe whether the animal model of optic nerve injury in rats can be set up by fluid percussion brain injury device (FPI) or not.Methods　Seventyone healthy female Wister rats were randomly divided into 2 groups, inlcuding model group with 66 rats and control group with 5 rats.The rats in model group were randomly divided into 3 groups. Eight rats in group 1 were examined by flashvisual evoked potential (F-VEP) and magnetic resonance imaging (MRI) examines before and 1, 3 days,1,2,4,6,and 8 weeks after injury; 56 rats in group 2 were randomly divided into 7 subgroups with 8 rats in each subgroup，and were detected by histopathological and terminal deoxynucleotidyl transferasemediated dUTP nick end labeling (TUNEL) apoptosis examines 1, 3 days, 1,2,4,6,8 weeks after injury；2 rats in group 3 were examined by electron microscopy 4 and 8 weeks after injury.According to the degree of injury, the injured eyes were divided into 2 groups including severe injury group with the beat pressure of （699.14plusmn;60.79） kPa and mild injury group with the beat pressure of （243.18plusmn;20.26） kPa.The right and left eyes in rats in each group were in severe and mild injury group, respectively.Results　One day after injury, the latency duration of FVEP prolonged in severe injury group，wich differed much form which in the normal control group (P＜0.05)；the amplitude was gradually reduced during the first 2 weeks after injury and kept steady after that (P＞0.05). The latency duration prolonged in mild injury group,and its difference with the normal control group was statistically significant (P＜0.05)；the amplitude was gradually reduced during the first 4 weeks after injury and kept steady after that (P＞0.05). The abnormal high signal could be seen on optic nerve 1 day after injury, and was still obvious 8 weeks later. The results of histopathological examination showed ruptured capillary in ganglion cell layer 1 day after injury;retinal ganglion cells without nucleus could be seen 4 weeks after injury. The apoptosis of positive cells was found in each layer of the retina 3 days after injury.TUNEL results indicated that the number of apoptotic positive cells increased significantly 1-2 weeks after injury.Conclusion　An animal model of optic nerve injury can be successfully set up using FPI in rats.

Clinical and genetic research on a Chinese family with X-linked complete congenital stationary night blindness

Objective To make the diagnosis of a pedigree of X-linked congenital stational night blindness(CSNB) and to identify the disease-causing gene. Methods Clinical examination and family analysis were made. Venous blood was drawn from 5 affected and 16 unaffected individuals from the family. Genomic DNA was extracted. The locus of the candidate gene was mapped by linkage study. Mutation was screened by polymerase chain reaction (PCR) of the candidate gene exons and flanked introns. The PCR products are directly sequenced. The healthy people in and out of the family who were selected according to certain standards were as the control. Results A Chinese family with X-linked complete congenital stationary night blindness (CSNB1) was diagnosed. A missense mutation A772C (T258P) in exon 2 of NYX gene was identified in all affected patients and all female carriers were heterozygous. This mutation was neither found in normal family members nor among 110 unrelated normal controls. Conclusion A novel mutation of NYX gene with threonine to proline change is responsible for this Chinese CSNB1 family. (Chin J Ocul Fundus Dis, 2007, 23: 184-188)