occult macular dystrophy
Findings
No curated finding names occult macular dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severely attenuated focal macular and multifocal electroretinograms.
Definition from the Mondo Disease Ontology (MONDO:0013316), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by age-related disease onset
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
7 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.
- Macular dystrophyHPOHP:0007754
- Very frequent (80% to 99% of cases)
- Abnormal full-field electroretinogramHPOHP:0030466
- 0 of 16 reported patients
- Abnormal fundus fluorescein angiographyHPOHP:0030604
- 0 of 16 reported patients
- Abnormal multifocal electroretinogramHPOHP:0030468
- Macular degenerationMondoHP:0000608
- Slow decrease in visual acuityHPOHP:0007924
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.
- RP1L1HGNC:15946
- Definitive · G2P · Autosomal dominant · 2019
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: occult macular dystrophy
- Also called
- OCMDOMD