[Ocular findings in Nijmegen breakage syndrome].
[Ocular findings in Nijmegen breakage syndrome].
复制标题
[奈梅亨断裂综合征的眼部表现]。
作者：
M. Grałek;K. Chrzanowska;K. Kanigowska;Beata Kocyła
未标记
奈梅亨断裂综合征（NBS）是由NBN/NBS 1基因遗传突变引起的基因组不稳定性疾病。NBS的临床症状是：原发性小头畸形，特征性面部外观，由免疫缺陷引起的反复呼吸道感染以及极高的早期癌症发展风险。
目的
本研究的目的是评估NBS患者的视觉器官。
材料和方法
对10例NBS患者进行了眼科检查。评估视力、屈光不正、眼球前节和后节测试、张力测量和生物测量。
结果
研究组视力器官病变严重，睑裂上斜，视力下降，小眼，角膜直径小，透镜混浊，屈光不正。
结论
Nijmegen断裂综合征患者有明显的视觉器官异常。这些疾病需要长期的眼科护理。
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.