Reis-Bucklers corneal dystrophy
Findings
No curated finding names Reis-Bucklers corneal dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.
Definition from the Mondo Disease Ontology (MONDO:0012043), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile 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.
- Corneal dystrophyHPOHP:0001131
- 9 of 9 reported patients
- Corneal erosionHPOHP:0200020
- 2 of 2 reported patients
- Corneal opacityHPOHP:0007957
- 7 of 7 reported patients
- Opacification of the corneal stromaHPOHP:0007759
- 2 of 2 reported patients
- Palpebral edemaHPOHP:0100540
- 1 of 2 reported patients
- PhotophobiaHPOHP:0000613
- 1 of 2 reported patients
- Reduced visual acuityHPOHP:0007663
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
10 names
Resolves to: Reis-Bucklers corneal dystrophy
- Also called
- anterior limiting membrane dystrophy type 1anterior limiting membrane dystrophy type Iatypical granular corneal dystrophycorneal dystrophy of Bowman layer type 1corneal dystrophy of Bowman layer type Igeographic corneal dystrophygranular corneal dystrophy type 3granular corneal dystrophy type IIIRBCDsuperficial granular corneal dystrophy