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Article

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.

European journal of human genetics : EJHG - 1 May 2014

Perez Yonatan, Gradstein Libe, Flusser Hagit, Markus Barak, Cohen Idan, Langer Yshaia, Marcus Mira, Lifshitz Tova, Kadir Rotem, Birk Ohad S

Abstract excerpt

Foveal hypoplasia, always accompanied by nystagmus, is found as part of the clinical spectrum of various eye disorders such as aniridia, albinism and achromatopsia. However, the molecular basis of isolated autosomal recessive foveal hypoplasia is yet unknown. Individuals of apparently unrelated non consanguineous Israeli families of Jewish Indian (Mumbai) ancestry presented with isolated foveal hypoplasia...

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Share to Amino Acid Transport Systems, Neutral
Share to Eye Diseases, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24045842
DOI: 10.1038/ejhg.2013.212
PMCID: PMC3992574

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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