ABSTRACT
Objective To analyze the application value of optical coherence tomography (OCT)in the diagnosis of normal tension glaucoma (NTG).Methods 50 NTG patients (92 eyes)were selected as control group, at the same period 50 cases in our hospital physical examination center for the health examination were selected as the observation group.The optic disc and retinal nerve fiber layer thickness were measured by OCT.The disc diameter, disc area,depending on the cup diameter,optic cup area in the optic disc parameters were observed and compared between the two groups.Results The optic disc diameter between the control group and the observation group had no significant difference (t =1.02,P >0.05),the differences among the remaining nine parameters were significant (t =3.11,2.85,5.63,5.21,4.13,3.06,3.10,6.58,4.36,all P <0.05).Conclusion OCT can measure and analyze the optic disc and retinal nerve fiber layer quantitatively,it is reproducible,clinical early diagnosis of NTG is of great significance,it is worth popularization and application.
ABSTRACT
Objective By detecting the mutations spectrum of phenylalanine hydroxylase(PAH)gene in phe-nylketonuria(PKU)patients and their parents. The researchers analyzed the gene mutation features and high - frequency mutations and determined the relationship between the genotype and the phenotype,which would provide a theoretical basis for the early diagnosis and genetic consultation of PKU children in the region. Methods In this study,13 exons and their flanking introns of the PAH gene in 32 PKU patients and their parents from Wuxi and Suqian in Jiangsu province were sequenced by using the next - generation sequencing(NGS)technology. Results Sixty - one mutant sites and 32 mutant genes were detected in 32 PKU patients,and the mutation detection rate was 95. 31%(61 / 64 cases). The variants at c. 721C ﹥ T,c. 1068C ﹥ A,c. 611A ﹥ G,c. 1197A ﹥ T,c. 728G ﹥ A,c. 331C ﹥ T and c. 442 -1G ﹥ A were common mutations in the region with mutation frequency over 5% . What's more,4 novel variants of c. 699C ﹥ G,c. 265C ﹥ T,c. 722G ﹥ A and c. 1194A ﹥ G were found. Of those,c. 699C ﹥ G was not recorded in the PAH variant database and HGMD database and. c. 265C ﹥ T,c. 722G ﹥ A,and c. 1194A ﹥ G were first reported in the Chi-nese population. Genotype - accurate biochemical phenotype correlation by using the Guldberg AV system revealed con-sistency rate of 38. 0%(8 / 21 cases),which the consistency rate between accurate biochemical phenotype and predic-tive phenotype of moderate to severe genotype was 92. 3%(12 / 13 cases),and mild genotype was 50. 0%(4 / 8 cases). Conclusions The PAH gene variants of PKU patients in Jiangsu province are distributed mainly in exons 7,of which the highest frequency gene mutation is c. 721 c ﹥ T. Moreover,one novel variant c. 699C ﹥ G was reported for the first time. The PKU children inherit the PAH mutation gene mainly from both parents. There are definite correlation between the genotypes and phenotypes.