Abstract
Ocular findings in Nijmegen Breakage Syndrome
- Klinika Okulistyki Instytutu „Pomnik – Centrum Zdrowia Dziecka” w Warszawie
- Zakład Genetyki Medycznej Instytutu „Pomnik – Centrum Zdrowia Dziecka” w Warszawie
Introduction
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.
Keywords
palpebral fissure, microcornea, lens opacity, axial length of eyeball, refractive errors
Integrated with
