Cincinnati Children's Hospital, Abrahamson Pediatric Eye Institute, Cincinnati, Ohio, USA.
Department of Ophthalmology, University of Cincinnati, Cincinnati, Ohio, USA.
Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):611-617. doi: 10.1002/ajmg.c.31840. Epub 2020 Sep 10.
To report ophthalmic findings of patients without colobomas, and with a clinical and molecular diagnosis of CHARGE Syndrome. Retrospective study of ophthalmic findings in 67 CHARGE patients-clinically confirmed diagnosis with positive CHD7 mutation-seen in the Ophthalmology department of Cincinnati Children's Hospital Medical Center between January 1, 2008 through September 25, 2018. Criteria for inclusion in this study was absence of any form of a coloboma in either eye. In our cohort, all patients had a positive CHD7 mutation, in addition to a clinical diagnosis. 19.4% (13/67) of CHARGE patients did not have a coloboma in either eye. 69.2% (9/13) had strabismus, 76.9% (10/13) had a refractive error that warranted refractive correction, 23.1% (3/13) had amblyopia, 38.5% (5/13) had nasolacrimal duct obstruction, 30.8% (4/13) had dry eye syndrome and exposure keratopathy, 15.4% (2/13) had ptosis, 15.4% (2/13) had blepharitis, 15.4% (2/13) had Cortical Visual Impairment, 7.7% (1/13) of patients had optic nerve drusen, 7.7% (1/13) had Marcus Gunn Jaw Winking, and 7.7% (1/13) with an eyelid nevus. There are numerous ophthalmic findings in individuals with CHARGE Syndrome without colobomas. No study to date has evaluated the ophthalmic findings in CHD7 positive CHARGE patients without colobomas. These findings need to be assessed and treated to ensure optimal vision in the CHARGE patient population. Absence of coloboma does not rule out a diagnosis of CHARGE syndrome, and if there is a clinical suspicion, clinical confirmation then genetic testing would be warranted.
报告无眼眶裂畸形且临床和分子诊断为 CHARGE 综合征患者的眼部发现。对 2008 年 1 月 1 日至 2018 年 9 月 25 日期间在辛辛那提儿童医院医疗中心眼科就诊的经临床证实诊断为 CHD7 突变阳性的 67 例 CHARGE 患者的眼部发现进行回顾性研究。本研究纳入标准为双眼均无任何形式的眼眶裂畸形。在我们的队列中，所有患者均存在 CHD7 突变阳性，此外还有临床诊断。19.4%（13/67）的 CHARGE 患者双眼均无眼眶裂畸形。69.2%（13/19）的患者有斜视，76.9%（10/13）有需要矫正的屈光不正，23.1%（3/13）有弱视，38.5%（5/13）有鼻泪管阻塞，30.8%（4/13）有干眼症和暴露性角膜病变，15.4%（2/13）有上睑下垂，15.4%（2/13）有睑缘炎，15.4%（2/13）有皮质视觉障碍，7.7%（1/13）的患者有视神经乳头结节，7.7%（1/13）有 Marcus Gunn 下颌眨眼，7.7%（1/13）有眼睑痣。无眼眶裂畸形的 CHARGE 综合征患者存在多种眼部表现。目前尚无研究评估无眼眶裂畸形且 CHD7 阳性的 CHARGE 患者的眼部表现。这些发现需要进行评估和治疗，以确保 CHARGE 患者人群的最佳视力。无眼眶裂畸形并不能排除 CHARGE 综合征的诊断，如果存在临床怀疑，需要进行临床确认，然后进行基因检测。
