granular corneal dystrophy type II
Findings
No curated finding names granular corneal dystrophy type II yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.
Definition from the Mondo Disease Ontology (MONDO:0011855), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset
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.
- Lattice corneal dystrophyHPOHP:0001149
- 5 of 5 reported patients
- Reduced visual acuityHPOHP:0007663
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Visual impairmentHPOHP:0000505
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Central opacification of the corneaHPOHP:0011493
- Very frequent (80% to 99% of cases)
- Corneal crystalsHPOHP:0000531
- Very frequent (80% to 99% of cases)
- Granular corneal dystrophyHPOHP:0007802
- Very frequent (80% to 99% 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
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: granular corneal dystrophy type II
- Also called
- Avellino corneal dystrophyCGD2combined granular-lattice corneal dystrophyGCD2GCDIIgranular corneal dystrophy type 2granular-lattice corneal dystrophy