macular dystrophy with central cone involvement
MONDO:0014515Mondo
Findings
No curated finding names macular dystrophy with central cone involvement 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 · Late young adult onset
HPO, annotations 2026-09-02
Features
9 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.
- Central scotomaHPOHP:0000603
- 6 of 6 reported patients
- Macular dystrophyHPOHP:0007754
- 6 of 6 reported patients
- Reduced visual acuityHPOHP:0007663
- 6 of 6 reported patients
- Visual impairmentHPOHP:0000505
- 6 of 6 reported patients
- Red-green dyschromatopsiaHPOHP:0000642
- 4 of 5 reported patients
- Bull's eye maculopathyHPOHP:0011504
- 2 of 4 reported patients
- High myopiaHPOHP:0011003
- 3 of 6 reported patients
- Optic disc pallorHPOHP:0000543
- 1 of 6 reported patients
- Perifoveal ring of hyperautofluorescenceHPOHP:0030629
- 1 of 6 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.
- MFSD8HGNC:28486
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of