ABSTRACT

Background: We investigated the ocular manifestations in patients with Kabuki syndrome(KS).

Methods: A retrospective chart review was performed in 10 patients with KS were referred to the Department of Ophthalmology for evaluation of ocular manifestations. Data were collected from patient interviews, clinical examinations, and laboratory investigations. Ophthalmologic examinations included best-corrected visual acuity, intraocular pressure, anterior segment, adnexal examination, and dilated fundus examination.

Results: Mutations in the KMT2D gene were identified in all of the 10 patients with KS. No deletion or point mutation was found in the KDM6A gene. In our patients, 20% had ptosis, 60% had strabismus, 90% had lid changes and 10% had amblyopia. Five patients did not undergo the visual acuity test due to intellectual disability.

Conclusions: Ophthalmic abnormalities are frequently associated with KS. The importance of ophthalmological examination in all patients with KS for early detection of ocular anomalies to prevent visual impairment cannot be underemphasized.

Abbreviations: KS: Kabuki syndrome

摘要

背景：我们调查了歌舞伎综合征（KS）患者的眼部表现。

方法：对转诊至眼科的 10 名 KS 患者进行回顾性图表审查，以评估眼部表现。从患者访谈、临床检查和实验室调查中收集数据。眼科检查包括最佳矫正视力、眼压、眼前节、附件检查和散瞳眼底检查。

结果：在所有 10 名 KS 患者中都发现了KMT2D基因突变。在KDM6A基因中未发现缺失或点突变。在我们的患者中，20% 有上睑下垂，60% 有斜视，90% 有眼睑变化，10% 有弱视。五名患者因智力障碍未接受视力测试。

结论：眼科异常常与 KS 相关。对所有 KS 患者进行眼科检查对于早期发现眼部异常以防止视力损害的重要性不容忽视。

缩写: KS: 歌舞伎综合症