Quaranta L, Quaranta C A
Centro Glaucoma - Clinica Oculistica dell' Universita' degli Studi di Brescia, Italy.
Acta Ophthalmol Scand. 1998 Feb;76(1):112-3. doi: 10.1034/j.1600-0420.1998.760122.x.
PURPOSE/METHODS: Rubinstein-Taybi syndrome is a constellation of clinical findings characterized by mental and motor retardation, broad thumbs and broad first toes, marked growth retardation, microcrania, typical facies, high-arched palate, and cryptorchidism in males. Ocular and adnexal abnormalities are quite common and include antimongoloid slant of the palpebral fissures, epicanthal folds, congenital obstruction of the lacrimal excretory system, ptosis, strabismus, and severe ametropia. Macrocornea, microophthalmos, colobomas of the iris and of the optic nerve head, congenital cataract, and optic nerve atrophy have also been described. Congenital glaucoma is a rare complication. We examined a patient with Rubinstein-Taybi syndrome with bilateral congenital glaucoma.
RESULTS/CONCLUSIONS: Examination of this patient revealed bilateral antimongoloid slants of the palpebral fissures, and bilateral congenital glaucoma. Gonioscopic examination revealed the iris to be inserted flatly into the trabecular meshwork. This case emphasizes the importance of detailed, complete ocular examinations in patients with Rubinstein-Taybi syndrome, and also highlights the occurrence of ocular abnormalities rarely associated with this disease.
目的/方法：鲁宾斯坦-泰比综合征是一组临床症状，其特征为智力和运动发育迟缓、拇指和第一趾宽大、明显的生长发育迟缓、小头畸形、典型面容、高拱腭以及男性隐睾。眼部和附属器异常相当常见，包括睑裂反蒙古样倾斜、内眦赘皮、泪道系统先天性阻塞、上睑下垂、斜视和严重屈光不正。也有关于大角膜、小眼球、虹膜和视神经乳头缺损、先天性白内障以及视神经萎缩的描述。先天性青光眼是一种罕见的并发症。我们检查了一名患有鲁宾斯坦-泰比综合征并伴有双侧先天性青光眼的患者。
结果/结论：对该患者的检查发现双侧睑裂反蒙古样倾斜以及双侧先天性青光眼。房角镜检查显示虹膜平坦地插入小梁网。该病例强调了对鲁宾斯坦-泰比综合征患者进行详细、全面眼部检查的重要性，同时也突出了与该疾病很少相关的眼部异常的发生情况。
