Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The
Curr Eye Res. 2010 Jan;35(1):31-6. doi: 10.3109/02713680903374182.
To describe the clinical phenotype in a family with primary open angle glaucoma harboring a p.Gln368X mutation in MYOC.
We identified a proband with primary open angle glaucoma and the p.Gln368X MYOC mutation. She and her six siblings were examined clinically, including Heidelberg Retina Tomography II, and venous blood samples were screened for other variants in MYOC, WDR36, OPTN, and CYP1B1.
Four individuals showed the p.Gln368X MYOC mutation, no other genetic variations were assessed. Two of these four siblings had glaucomatous optic disc changes with corresponding visual field losses and abnormal Heidelberg Retina Tomography results by the Moorfields regression analysis, one had abnormal results by the Moorfields regression analysis but no visual field loss, and one showed no glaucomatous signs or symptoms at all. These findings did not correlate with the age of the affected individuals.
In the primary open angle glaucoma family described here, we documented a wide range in clinical symptoms, demonstrating a highly variable penetrance of the MYOC p.Gln368X mutation.
描述一个携带 MYOC 基因 p.Gln368X 突变的原发性开角型青光眼家系的临床表型。
我们鉴定了一名患有原发性开角型青光眼和 p.Gln368X MYOC 突变的先证者。对她和她的六名兄弟姐妹进行了临床检查，包括海德堡视网膜断层扫描仪 II，并对 MYOC、WDR36、OPTN 和 CYP1B1 中的其他变体进行了静脉血样筛查。
有 4 个人携带 p.Gln368X MYOC 突变，未评估其他遗传变异。这 4 个兄弟姐妹中有 2 个有青光眼性视盘改变，伴有相应的视野丧失和海德堡视网膜断层扫描仪的 Moorfields 回归分析异常，1 个有 Moorfields 回归分析异常但无视野丧失，1 个则完全没有青光眼的迹象或症状。这些发现与受影响个体的年龄无关。
在描述的这个原发性开角型青光眼家系中，我们记录了广泛的临床表现，表明 MYOC p.Gln368X 突变的外显率存在高度变异性。
