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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.
Features include always present findings: Opacification of the corneal stroma, Cloudy or opaque cornea (corneal opacity), Clouding of the cornea (corneal dystrophy), and Corneal erosion; and common findings: Photophobia, Reduced visual acuity, and Palpebral edema. 8 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 5 | Opacification of the corneal stroma, Cloudy or opaque cornea (corneal opacity), Strabismus |
TGFBI function has not been fully characterized.
Reis-Bucklers corneal dystrophy is associated with mutations in the TGFBI gene on chromosome 5.
Genetic testing for TGFBI is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 always present features, 3 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Reis-Bucklers corneal dystrophy.
9 publications have been identified in PubMed for Reis-Bucklers corneal dystrophy. Research spans Case Report / Case Series (56%), Epidemiology / Natural History (22%), and Clinical Trial Publication (11%).
Paoletti T (2026). [PMID: 41949920](https://pubmed.ncbi.nlm.nih.gov/41949920/). *Cornea*. [Clinical Trial Publication]
Zhao H (2026). [PMID: 42070230](https://pubmed.ncbi.nlm.nih.gov/42070230/). *Adv Sci (Weinh)*. [Gene Therapy / Novel Therapeutics]
Touirssa O (2025). [PMID: 40874967](https://pubmed.ncbi.nlm.nih.gov/40874967/). *Journal of epidemiology and global health*. [Case Report / Case Series]
Pantola P (2025). [PMID: 39023340](https://pubmed.ncbi.nlm.nih.gov/39023340/). *Cornea*. [Case Report / Case Series]
Cho EH (2025). [PMID: 40659714](https://pubmed.ncbi.nlm.nih.gov/40659714/). *Scientific reports*. [Epidemiology / Natural History]
Mahoun Z (2025). [PMID: 41474953](https://pubmed.ncbi.nlm.nih.gov/41474953/). *Cornea*. [Epidemiology / Natural History]
Chaurasia S (2024). [PMID: 37713662](https://pubmed.ncbi.nlm.nih.gov/37713662/). *Cornea*. [Case Report / Case Series]
Li D (2024). [PMID: 38735449](https://pubmed.ncbi.nlm.nih.gov/38735449/). *American journal of ophthalmology*. [Case Report / Case Series]
Wang ZW (2024). [PMID: 38871017](https://pubmed.ncbi.nlm.nih.gov/38871017/). *Photodiagnosis and photodynamic therapy*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 6:33 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Reis-Bucklers corneal dystrophy