Department of Ophthalmology, University of Wuerzburg, Wuerzburg, Germany.
J Glaucoma. 2013 Jun-Jul;22(5):e7-8. doi: 10.1097/IJG.0b013e31824477ef.
We report a case of a patient with Klinefelter syndrome and glaucoma.
A 30-year-old patient with karyotype 47, XXY, presented with a known medical history of glaucoma. Besides reduced fertility, no characteristic physical or behavioral symptoms for Klinefelter syndrome were found on clinical examination. While both eyes were treated with topical intraocular pressure-lowering medications, an increased intraocular pressure, visual field losses, and advanced optic disc damage with a cup-disc ratio of 0.9 were assessed only in the right eye. However, gonioscopy revealed goniodysgenesis in both eyes.
Klinefelter syndrome is the most common cause of male hypogonadism with a variety of clinical signs and symptoms. The principal effect is the hypogonadism predisposing to infertility and requiring testosterone replacement therapy. Several other classical features of the syndrome including mental retardation, gynecomastia, and breast cancer are described. However, the association between Klinefelter syndrome and ocular manifestations is rare.
: Glaucoma or in fact any other ocular manifestations associated with Klinefelter syndrome are rarely described. Here, we report a case of glaucoma and its treatment combining trabeculotomy and trabeculectomy in a patient with Klinefelter syndrome.
我们报告一例克氏综合征合并青光眼患者的病例。
一位 30 岁患者，核型为 47, XXY，有已知的青光眼病史。除了生育能力降低外，临床检查未发现克氏综合征的典型身体或行为症状。尽管双眼均接受了局部降眼压药物治疗，但仅在右眼评估到眼压升高、视野丧失和晚期视神经盘损伤，杯盘比为 0.9。然而，房角镜检查显示双眼均存在房角发育不良。
克氏综合征是男性性腺功能减退症最常见的原因，具有多种临床体征和症状。主要影响是性腺功能减退症导致不孕，需要进行睾酮替代治疗。描述了该综合征的其他几个经典特征，包括智力障碍、乳腺增生和乳腺癌。然而，克氏综合征与眼部表现之间的关联很少见。
克氏综合征与青光眼或实际上任何其他眼部表现相关的情况很少见。在这里，我们报告一例克氏综合征患者的青光眼病例，并结合小梁切开术和小梁切除术进行治疗。
