Stargardt disease
Findings
No curated finding names Stargardt disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.
Definition from the Mondo Disease Ontology (MONDO:0019353), read 2026-09-29. CC BY 4.0.
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Reduced visual acuityHPOHP:0007663
- Obligate (100% of cases)
- Abnormal choroid morphologyHPOHP:0000610
- Very frequent (80% to 99% of cases)
- Abnormal foveal morphologyHPOHP:0000493
- Very frequent (80% to 99% of cases)
- Abnormal macular pigmentationHPOHP:0008002
- Very frequent (80% to 99% of cases)
- Abnormality of visual evoked potentialsHPOHP:0000649
- Very frequent (80% to 99% of cases)
- Central scotomaHPOHP:0000603
- Very frequent (80% to 99% of cases)
- Color vision defectHPOHP:0000551
- Very frequent (80% to 99% of cases)
- Macular degenerationHPOHP:0000608
- Very frequent (80% to 99% of cases)
- NyctalopiaHPOHP:0000662
- Very frequent (80% to 99% of cases)
- Paroxysmal involuntary eye movementsHPOHP:0007704
- Very frequent (80% to 99% of cases)
- Retinal pigment epithelial atrophyHPOHP:0007722
- Very frequent (80% to 99% of cases)
- Retinal pigment epithelial mottlingHPOHP:0007814
- Very frequent (80% to 99% of cases)
Show the remaining 4
- Retinal thinning on OCTHPOHP:0030329
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the maculaHPOHP:0008059
- Frequent (30% to 79% of cases)
- PhotopsiaHPOHP:0030786
- Frequent (30% to 79% of cases)
- Yellow/white macular lesionHPOHP:0030500
- Frequent (30% to 79% of cases)
Genes
3 genes
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.
Where it sits
Other names
2 names
Resolves to: Stargardt disease
- Also called
- fundus flavimaculatusStargardt 1