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Article

Expanding the mutational spectrum of FHONDA syndrome.

Ophthalmic genetics - 1 Dec 2023

Shoji Marissa K, Khodeiry Mohamed M, Sengillo Jesse D, Mendoza Carlos

Abstract excerpt

AIM: The aim of the study is to present a rare case of Foveal Hypoplasia, Optic Nerve Decussation defects, and Anterior segment dysgenesis (FHONDA) confirmed by genetic testing with two separate pathogenic mutations in the SLC38A8 gene. MATERIALS AND METHODS: This was a case report. RESULTS: A 3-month-old female presented to a neuro-ophthalmology clinic with nystagmus. Her past medical and family history was...

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Identifiers

PMID: 36748941
DOI: 10.1080/13816810.2023.2175873

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