1. Expansion of the ophthalmic phenotype of SPINT2-related syndromic congenital sodium diarrhea.
- Author
-
Ernst J, Hiasat J, Alabek ML, Scanga HL, Motley W, and Nischal KK
- Subjects
- Abnormalities, Multiple diagnosis, Abnormalities, Multiple diagnostic imaging, Abnormalities, Multiple pathology, Child, Preschool, Cornea metabolism, Cornea pathology, Diarrhea diagnosis, Diarrhea diagnostic imaging, Diarrhea genetics, Diarrhea pathology, Humans, Metabolism, Inborn Errors diagnosis, Metabolism, Inborn Errors diagnostic imaging, Metabolism, Inborn Errors pathology, Mutation genetics, Phenotype, Tomography, Optical Coherence methods, Abnormalities, Multiple genetics, Diarrhea congenital, Membrane Glycoproteins genetics, Metabolism, Inborn Errors genetics, Sodium metabolism
- Abstract
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., (© 2021 Wiley Periodicals LLC.)
- Published
- 2021
- Full Text
- View/download PDF