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A reference for what the literature reports. Not medical advice.

Disease

ELOVL4-related maculopathy

MONDO:0700227Mondo

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Findings

No curated finding names ELOVL4-related maculopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Any maculopathy caused by a variant in the ELOVL4 gene.

Definition from the Mondo Disease Ontology (MONDO:0700227), read 2026-09-29. CC BY 4.0.

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

ELOVL4HGNC:14415
- Definitive · ClinGen · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025

Where it sits

A kind of: inherited retinal dystrophy
Narrower terms (1): Stargardt disease 3