Hamdi Talaat, Basheikh Ahmed
Ophthalmology, Jeddah University, Jeddah, SAU.
Ophthalmology, King Abdulaziz University, Jeddah, SAU.
Cureus. 2020 Jun 4;12(6):e8445. doi: 10.7759/cureus.8445.
Kabuki syndrome is an uncommon genetic disease associated with skeletal, cardiac, neurological, and ocular manifestations. Strabismus is an ophthalmic manifestation of Kabuki syndrome; however, it is infrequently documented in detail. We report a case of Kabuki syndrome in a patient who presented with large angle congenital esotropia. This case report highlights the importance of early eye examinations and subsequent interventions in patients diagnosed with Kabuki syndrome.
歌舞伎综合征是一种罕见的遗传性疾病，伴有骨骼、心脏、神经和眼部表现。斜视是歌舞伎综合征的一种眼部表现；然而，对此详细记录的情况并不常见。我们报告一例患有大角度先天性内斜视的歌舞伎综合征患者。本病例报告强调了对诊断为歌舞伎综合征的患者进行早期眼部检查及后续干预的重要性。
