macular corneal dystrophy
Findings
No curated finding names macular corneal dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.
Definition from the Mondo Disease Ontology (MONDO:0009020), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
13 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.
- Abnormality of metabolism/homeostasisHPOHP:0001939
- Very frequent (80% to 99% of cases)
- Corneal crystalsHPOHP:0000531
- Very frequent (80% to 99% of cases)
- Opacification of the corneal stromaHPOHP:0007759
- Very frequent (80% to 99% of cases)
- Punctate opacification of the corneaHPOHP:0007856
- Very frequent (80% to 99% of cases)
- Decreased corneal thicknessHPOHP:0100689
- Frequent (30% to 79% of cases)
- Recurrent corneal erosionsHPOHP:0000495
- Frequent (30% to 79% of cases)
Show the remaining 1
- Macular dystrophyHPOHP:0007754
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.
- CHST6HGNC:6938
- Definitive · G2P · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: macular corneal dystrophy
- Also called
- corneal dystrophy Groenouw type IIFehr corneal dystrophyMCD