Eye Center, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
The Division of Pediatric Ophthalmology, Strabismus and Adult Motility, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Am J Med Genet A. 2021 Apr;185(4):1270-1274. doi: 10.1002/ajmg.a.62094. Epub 2021 Feb 5.
A 5-year-old girl presented with treatment-refractory dry eye and recurrent episodes of eye pain. She had been previously diagnosed with syndromic congenital sodium diarrhea (SCSD) caused by a pathogenic variant in SPINT2. Her local pediatric ophthalmologist had made the diagnosis of severe dry eye with corneal erosions, based on which, we arranged an eye exam under anesthesia (EUA) and punctal plug placement. Anterior segment optical coherence tomography (OCT) and corneal photographs were taken during the procedure. There are reports describing similar ophthalmic findings in this syndrome. However, to the best of our knowledge, this is the first case report to document OCT imaging and corneal photographs in a patient with SCSD, which we feel expands the ophthalmic phenotype of this rare genetic disorder.
一位 5 岁女孩因治疗抵抗性干眼和反复发作的眼痛就诊。她曾被诊断为 SPINT2 致病性变异引起的综合征型先天性钠腹泻（SCSD）。她的当地儿科眼科医生根据严重干眼伴角膜糜烂的诊断，安排了全身麻醉下的眼部检查（EUA）和泪小点塞放置。在手术过程中拍摄了眼前节光学相干断层扫描（OCT）和角膜照片。有报道描述了该综合征的类似眼科发现。然而，据我们所知，这是首例报道 SCSD 患者的 OCT 成像和角膜照片的病例报告，我们认为这扩展了这种罕见遗传疾病的眼科表型。
