AIM: To investigate the phenotype and genotype of a family with X-linked recessive Lowe syndrome. METHODS: All the members in the Chinese pedigree underwent comprehensive ophthalmologic and systemic examinations. Geno...AIM: To investigate the phenotype and genotype of a family with X-linked recessive Lowe syndrome. METHODS: All the members in the Chinese pedigree underwent comprehensive ophthalmologic and systemic examinations. Genomic DNA was isolated from peripheral blood of the pedigree members and 100 unrelated healthy Chinese subjects. Direct sequencing was performed to screen the exons and intron boundaries of OCRL.RESULTS: The ophthalmological and systemic exami nations suggested that the affected individual had Lowe syndrome. The phenotype in the pedigree is severe and consistent among all the affected individuals except for an individual who additionally suffered from congenital heart disease and laryngeal cartilage dysplasia. Directio nal San ger sequenci ng identified a complex mutation c.(2368_2368delG;c.2370A>C) in the Rho-GTPase activating protein domain. This complex mutation causes termination of protein synthesis at amino acid 824 and result in a new peptide with 823 amino acids (p.Ala790ProfsX34). This mutation was not detected in 100 unrelated healthy Chinese subjects.CONCLUSION: Our findings expand the phenotypic and genotypic spectrum of Lowe syndrome.展开更多
AIM:To assess the effectiveness of core vitrectomyphacoemulsification-intraocular lens(IOL)implantationcapsulo-hyaloidotomy in treating phakic eye at least 1 mo after the onset of malignant glaucoma.METHODS:A retrospe...AIM:To assess the effectiveness of core vitrectomyphacoemulsification-intraocular lens(IOL)implantationcapsulo-hyaloidotomy in treating phakic eye at least 1 mo after the onset of malignant glaucoma.METHODS:A retrospective analysis were performed on malignant glaucoma patients treated in Zhongshan Ophthalmic Center between 2016 and 2018.Demographic and clinical data were described.The preoperative and postoperative visual acuity(VA),intraocular pressure(IOP),number of IOP-lowering medications used,and anterior chamber depth(ACD)of the case series were compared by Wilcoxon signed-rank test.RESULTS:Thirteen phakic eyes with long time intervals between onset and surgery were identified in this case series.Core vitrectomy-phacoemulsification-IOL implantation-capsulohyaloidotomy reduced the IOP(P=0.046)and the number of IOP-lowering medications used(P=0.004),deepened the ACD(P=0.005).Complete success was achieved in 38.5%of the eyes,and anatomical success was achieved in 100%of the eyes without any recurrence.The only postoperative complication observed is corneal endothelial decompensation.It occurred in two cases.CONCLUSION:Core vitrectomy-phacoemulsification-IOL implantation-capsulo-hyaloidotomy is safe and effective for treatment of long onset phakic malignant glaucoma.展开更多
基金Supported by the National Natural Science Foundation of China(No.81700812)the Ph.D.Start-up Fund of Natural Science Foundation of Guangdong Province(No.2017A030310214)the Guangdong Provincial Foundation for Medical Scientific Research(No.A2017016)
文摘AIM: To investigate the phenotype and genotype of a family with X-linked recessive Lowe syndrome. METHODS: All the members in the Chinese pedigree underwent comprehensive ophthalmologic and systemic examinations. Genomic DNA was isolated from peripheral blood of the pedigree members and 100 unrelated healthy Chinese subjects. Direct sequencing was performed to screen the exons and intron boundaries of OCRL.RESULTS: The ophthalmological and systemic exami nations suggested that the affected individual had Lowe syndrome. The phenotype in the pedigree is severe and consistent among all the affected individuals except for an individual who additionally suffered from congenital heart disease and laryngeal cartilage dysplasia. Directio nal San ger sequenci ng identified a complex mutation c.(2368_2368delG;c.2370A>C) in the Rho-GTPase activating protein domain. This complex mutation causes termination of protein synthesis at amino acid 824 and result in a new peptide with 823 amino acids (p.Ala790ProfsX34). This mutation was not detected in 100 unrelated healthy Chinese subjects.CONCLUSION: Our findings expand the phenotypic and genotypic spectrum of Lowe syndrome.
基金Supported by the National Natural Science Foundation of China(No.81700812)。
文摘AIM:To assess the effectiveness of core vitrectomyphacoemulsification-intraocular lens(IOL)implantationcapsulo-hyaloidotomy in treating phakic eye at least 1 mo after the onset of malignant glaucoma.METHODS:A retrospective analysis were performed on malignant glaucoma patients treated in Zhongshan Ophthalmic Center between 2016 and 2018.Demographic and clinical data were described.The preoperative and postoperative visual acuity(VA),intraocular pressure(IOP),number of IOP-lowering medications used,and anterior chamber depth(ACD)of the case series were compared by Wilcoxon signed-rank test.RESULTS:Thirteen phakic eyes with long time intervals between onset and surgery were identified in this case series.Core vitrectomy-phacoemulsification-IOL implantation-capsulohyaloidotomy reduced the IOP(P=0.046)and the number of IOP-lowering medications used(P=0.004),deepened the ACD(P=0.005).Complete success was achieved in 38.5%of the eyes,and anatomical success was achieved in 100%of the eyes without any recurrence.The only postoperative complication observed is corneal endothelial decompensation.It occurred in two cases.CONCLUSION:Core vitrectomy-phacoemulsification-IOL implantation-capsulo-hyaloidotomy is safe and effective for treatment of long onset phakic malignant glaucoma.
