UNLABELLED: Nijmegen Breakage Syndrome (NBS) is a genomic instability disease caused by inherited mutations in the NBN/NBS1 gene. The clinical symptoms of NBS are: primary microcephaly, characteristic facial appearance, recurring respiratory tract infections caused by immune deficiency and extremely high risk of cancer development at early age. PURPOSE: The aim of the study was to assess the vision organ in patients with NBS. MATERIAL AND METHODS: Ophthalmological examination of 10 NBS patients was performed. The visual acuity, refractive errors, anterior and posterior segment of the eye ball test, tonometry and biometry were assessed. RESULTS: Serious pathology of the sight organ in the study group were found, including upward slanting of the palpebral fissures, reduced visual acuity, small eyes, small cornea diameter, lens opacity, refractive errors. CONCLUSIONS: The patients with Nijmegen breakage syndrome have significant sight organ abnormalities. These pathologies require long-term ophthalmologic care.
UNLABELLED: Nijmegen Breakage Syndrome (NBS) is a genomic instability disease caused by inherited mutations in the NBN/NBS1 gene. The clinical symptoms of NBS are: primary microcephaly, characteristic facial appearance, recurring respiratory tract infections caused by immune deficiency and extremely high risk of cancer development at early age. PURPOSE: The aim of the study was to assess the vision organ in patients with NBS. MATERIAL AND METHODS: Ophthalmological examination of 10 NBSpatients was performed. The visual acuity, refractive errors, anterior and posterior segment of the eye ball test, tonometry and biometry were assessed. RESULTS: Serious pathology of the sight organ in the study group were found, including upward slanting of the palpebral fissures, reduced visual acuity, small eyes, small cornea diameter, lens opacity, refractive errors. CONCLUSIONS: The patients with Nijmegen breakage syndrome have significant sight organ abnormalities. These pathologies require long-term ophthalmologic care.
Authors: Paulo M G Rodrigues; Paulius Grigaravicius; Martina Remus; Gabriel R Cavalheiro; Anielle L Gomes; Maurício Rocha-Martins; Mauricio R Martins; Lucien Frappart; David Reuss; Peter J McKinnon; Andreas von Deimling; Rodrigo A P Martins; Pierre-Olivier Frappart Journal: PLoS One Date: 2013-07-30 Impact factor: 3.240