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Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.
Features include: Clouding of the cornea (corneal dystrophy), Photophobia, Corneal scarring, and Juvenile epithelial corneal dystrophy.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 3 | Clouding of the cornea (corneal dystrophy), Corneal scarring, Juvenile epithelial corneal dystrophy |
TGFBI function has not been fully characterized.
Thiel-Behnke 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.
Biomarker and diagnostic research for Thiel-Behnke corneal dystrophy has been reported in the published literature.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for Thiel-Behnke corneal dystrophy.
161 publications have been identified in PubMed for Thiel-Behnke corneal dystrophy. Research spans Basic Science / Preclinical (34%), Review / Meta-Analysis (18%), and Clinical Trial Publication (16%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 55 | 34% |
Research summaries | 29 | 18% |
Clinical study results | 26 | 16% |
Disease patterns and progression | 23 | 14% |
Patient case studies | 14 | 9% |
New treatment approaches | 7 | 4% |
Testing and diagnosis research | 4 | 2% |
Other research | 3 | 2% |
Kaiser KP (2026). [PMID: 41499048](https://pubmed.ncbi.nlm.nih.gov/41499048/). *Int Ophthalmol*. [Basic Science / Preclinical]
Mohammed G (2026). [PMID: 42183087](https://pubmed.ncbi.nlm.nih.gov/42183087/). *Front Ophthalmol (Lausanne)*. [Review / Meta-Analysis]
Parekh M (2026). [PMID: 41629264](https://pubmed.ncbi.nlm.nih.gov/41629264/). *Cell Death Dis*. [Basic Science / Preclinical]
Chaudhari I (2026). [PMID: 41994241](https://pubmed.ncbi.nlm.nih.gov/41994241/). *Saudi J Ophthalmol*. [Review / Meta-Analysis]
Yao S (2026). [PMID: 42080792](https://pubmed.ncbi.nlm.nih.gov/42080792/). *Invest Ophthalmol Vis Sci*. [Clinical Trial Publication]
Yang L (2026). [PMID: 41448387](https://pubmed.ncbi.nlm.nih.gov/41448387/). *Progress in retinal and eye research*. [Clinical Trial Publication]
Nayak D (2026). [PMID: 42061480](https://pubmed.ncbi.nlm.nih.gov/42061480/). *Free Radic Biol Med*. [Basic Science / Preclinical]
Paoletti T (2026). [PMID: 41949920](https://pubmed.ncbi.nlm.nih.gov/41949920/). *Cornea*. [Clinical Trial Publication]
Böhm M (2026). [PMID: 41030828](https://pubmed.ncbi.nlm.nih.gov/41030828/). *Ophthalmology science*. [Epidemiology / Natural History]
Zhao H (2026). [PMID: 42070230](https://pubmed.ncbi.nlm.nih.gov/42070230/). *Adv Sci (Weinh)*. [Gene Therapy / Novel Therapeutics]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:50 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Thiel-Behnke corneal dystrophy