macular dystrophy with or without cone dysfunction
MONDO:0958326Mondo
Findings
No curated finding names macular dystrophy with or without cone dysfunction yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- 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
- 8 of 8 reported patients
- Hypoautofluorescent retinal lesionHPOHP:0025159
- 7 of 8 reported patients
- Reduced visual acuityHPOHP:0007663
- 7 of 8 reported patients
- Macular atrophyHPOHP:0007401
- 5 of 8 reported patients
- Temporal optic disc pallorHPOHP:0012511
- 2 of 8 reported patients
- Central scotomaHPOHP:0000603
- 1 of 8 reported patients
- Retinal pigment epithelial atrophyHPOHP:0007722
- 1 of 8 reported patients
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.
- SAMD7HGNC:25394
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of