Premium
Expansion of the ophthalmic phenotype of SPINT2 ‐related syndromic congenital sodium diarrhea
Author(s) -
Ernst Julia,
Hiasat Jamila,
Alabek Michelle L.,
Scanga Hannah L.,
Motley William,
Nischal Ken K.
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62094
Subject(s) - medicine , ophthalmology , refractory (planetary science) , optical coherence tomography , diarrhea , pathology , astrobiology , physics
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.