Expansion of the ophthalmic phenotype of SPINT2-related syndromic congenital sodium diarrhea.
Am J Med Genet A
; 185(4): 1270-1274, 2021 04.
Article
em En
| MEDLINE
| ID: mdl-33547739
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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Sódio
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Anormalidades Múltiplas
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Glicoproteínas de Membrana
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Diarreia
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Erros Inatos do Metabolismo
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
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Humans
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article