granular corneal dystrophy type I
Findings
No curated finding names granular corneal dystrophy type I yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.
Definition from the Mondo Disease Ontology (MONDO:0007377), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
10 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 corneal dystrophyHPOHP:0007881
- Very frequent (80% to 99% of cases)
- Corneal crystalsHPOHP:0000531
- Very frequent (80% to 99% of cases)
- Central opacification of the corneaHPOHP:0011493
- Frequent (30% to 79% of cases)
- Recurrent corneal erosionsHPOHP:0000495
- Frequent (30% to 79% of cases)
- Visual impairmentHPOHP:0000505
- Frequent (30% to 79% of cases)
- Abnormal corneal epithelium morphologyHPOHP:0011495
- Occasional (5% to 29% of cases)
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.
- TGFBIHGNC:11771
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: granular corneal dystrophy type I
- Also called
- classic GCDclassic granular corneal dystrophycorneal dystrophy Groenouw type IGCD1GCDIgranular corneal dystrophy type 1