Doolan Emer, O'Brien Colm
Ophthalmology, Mater Misericordiae University Hospital, Dublin, Ireland.
BMJ Open Ophthalmol. 2021 Apr 15;6(1):e000684. doi: 10.1136/bmjophth-2020-000684. eCollection 2021.
We aimed to carry out ocular examination and genetic studies in a family in which some members are affected with osteogenesis imperfecta (OI) and primary open-angle glaucoma (POAG). We compared the corneal properties of affected and unaffected members (ie, cases and controls).
Eight family members from two generations, both affected and unaffected, were examined. Corneal hysteresis (CH), intraocular pressure (IOP) measured with Goldmann applanation tonometer, central corneal thickness (CCT) and cornea-corrected IOP (IOPcc) were recorded. Blood samples were obtained from seven family members, both affected and unaffected, and tested for a panel of genes associated with OI.
Family members affected with OI (n=6) had a heterozygous splice site mutation in intron 26 of the gene. The family members affected with OI had reduced CCT (476.5±24.6 µm) and CH (7.9 ±1.4 mmHg) compared with the unaffected controls (CCT, 575.8±10.8 µm; CH, 12.3±0.8 mmHg). Two of the six patients affected with OI had a glaucoma diagnosis and were on topical therapy and under regular clinical review.
Patients affected with OI have a significant risk of developing POAG due to the effects of abnormal collagen on various ocular structures. Two of these effects which place them at risk are reduced CCT and CH. They should be screened and monitored for glaucoma from a young age, and the examination should include corneal biomechanical measurements and CCT to identify those most at risk. IOPcc may be a more accurate way to monitor IOP in the presence of abnormal corneal properties.
我们旨在对一个家族进行眼科检查和基因研究，该家族中一些成员患有成骨不全症（OI）和原发性开角型青光眼（POAG）。我们比较了患病和未患病成员（即病例和对照）的角膜特性。
检查了来自两代的八名家族成员，包括患病和未患病的。记录角膜滞后（CH）、用戈德曼压平眼压计测量的眼压（IOP）、中央角膜厚度（CCT）和角膜校正眼压（IOPcc）。从七名家族成员（包括患病和未患病的）采集血样，并检测一组与OI相关的基因。
患有OI的家族成员（n = 6）在该基因的第26内含子中有一个杂合剪接位点突变。与未患病的对照相比，患有OI的家族成员CCT降低（476.5±24.6 µm），CH降低（7.9±1.4 mmHg）（CCT，575.8±10.8 µm；CH，12.3±0.8 mmHg）。六名患有OI的患者中有两名被诊断为青光眼，正在接受局部治疗并定期接受临床检查。
由于异常胶原蛋白对各种眼部结构的影响，患有OI的患者有患POAG的显著风险。使他们处于风险中的两种影响是CCT降低和CH降低。应从年轻时就对他们进行青光眼筛查和监测，检查应包括角膜生物力学测量和CCT，以识别风险最高的人群。在存在异常角膜特性的情况下，IOPcc可能是监测眼压的更准确方法。
