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Article

Expanding the mutational and phenotypical spectrum of FHONDA syndrome.

European journal of ophthalmology - 1 Jan 2025

Teixeira Bruno Magalhães, Figueiredo Inês, Raimundo Miguel, Quental Hugo, Carvalho Ana Luísa, Silva Rufino, Murta Joaquim, Marques João Pedro

Abstract excerpt

Foveal hypoplasia, optic nerve decussation, and anterior segment dysgenesis (FHONDA) is a rare recessively inherited syndrome first described in 2013. FHONDA is associated with biallelic disease-causing variants in the SLC38A8 gene, which has a strong expression in the photoreceptor layer. To date, 60 different disease-causing variants in the SLC38A8 gene have been described. In this cross-sectional case series,...

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PMID: 39275842
DOI: 10.1177/11206721241284072

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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