Division of Medical Genetics, Department of Pediatrics, School of Medicine, Pusan National University, Children's Hospital, Yangsan-si, South Korea.
Department of Ophthalmology, School of Medicine, Pusan National University, Medical Research Institute, Pusan National University Hospital, Busan, South Korea.
Ophthalmic Genet. 2021 Apr;42(2):101-104. doi: 10.1080/13816810.2020.1861308. Epub 2020 Dec 18.
: We investigated the ocular manifestations in patients with Kabuki syndrome(KS).: 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.: Mutations in the gene were identified in all of the 10 patients with KS. No deletion or point mutation was found in the 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.: 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.: KS: Kabuki syndrome.
我们研究了歌舞伎综合征（KS）患者的眼部表现。对 10 例转诊至眼科进行眼部表现评估的 KS 患者进行了回顾性图表审查。从患者访谈、临床检查和实验室研究中收集数据。眼科检查包括最佳矫正视力、眼压、眼前段、附属器检查和散瞳眼底检查。所有 10 例 KS 患者均发现 基因突变。未发现 基因缺失或点突变。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。由于智力残疾，有 5 名患者未进行视力测试。眼部异常常与 KS 相关。眼科检查对所有 KS 患者都很重要，以便早期发现眼部异常，防止视力损害，这一点不容忽视。KS：歌舞伎综合征。
