Fea Antonio, Grosso Andrea, Rabbione Marilena, Grignolo Federico
Department of Clinical Physiopathology, Ophthalmology Section, University of Turin, Turin, Italy.
Graefes Arch Clin Exp Ophthalmol. 2007 Feb;245(2):315-7. doi: 10.1007/s00417-006-0340-4.
Optic disc anomalies are frequently associated with Alagille syndrome. We report here the first case of a patient with Alagille syndrome combined with optic pit and serous macular detachment.
A male patient with Alagille syndrome was referred from the pediatric hepatology department for investigation of visual loss in the right eye. Anterior segment examination showed evidence of posterior embryotoxon, confirmed by gonioscopic evaluation. Dilated fundus examination revealed serous macular detachment and optic pit.
OCT 3 scans confirmed the clinical findings.
Optic pit is uncommon and should prompt a search for genetic disorders or development abnormalities. The association between the two syndromes in this patient might be due to failure of correct neuroectodermal development, for which a common genetic pathway is likely.
视盘异常常与阿拉吉列综合征相关。我们在此报告首例阿拉吉列综合征合并视盘小凹及浆液性黄斑脱离的患者。
一名患有阿拉吉列综合征的男性患者从儿科肝病科转诊，以调查右眼视力丧失情况。眼前节检查显示有后胚胎环的迹象，经前房角镜评估得以证实。散瞳眼底检查发现浆液性黄斑脱离和视盘小凹。
光学相干断层扫描（OCT 3）证实了临床发现。
视盘小凹并不常见，应促使医生寻找遗传疾病或发育异常。该患者两种综合征之间的关联可能是由于正确的神经外胚层发育失败，这可能存在共同的遗传途径。
