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corneal dystrophy, lattice type 3A (CDL3A) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

corneal dystrophy, lattice type 3A

MONDO:0012044

Also known as:CDL3Acorneal dystrophy, lattice type IIIAlattice corneal dystrophy type 3A

Overview

Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically.

GeneticsAutosomal dominant · TGFBI (chr 5)

ResearchLimited published research (6 articles)

Clinical Presentation

Features include always present findings: Lattice corneal dystrophy. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Visual impairment, Corneal erosion, Lattice corneal dystrophy

Explore clinical features

Genetic Landscape

TGFBI function has not been fully characterized.

Corneal dystrophy, lattice type 3A is associated with mutations in the TGFBI gene on chromosome 5.

Diagnosis

Genetic testing for TGFBI is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for corneal dystrophy, lattice type 3A.

7 publications have been identified in PubMed for corneal dystrophy, lattice type 3A. Research spans Basic Science / Preclinical (33%), Epidemiology / Natural History (33%), and Review / Meta-Analysis (17%).

Recent Publications

Berger T (2026). [PMID: 41396443](https://pubmed.ncbi.nlm.nih.gov/41396443/). *Graefes Arch Clin Exp Ophthalmol*. [Epidemiology / Natural History]
Yu Y (2025). [PMID: 40900077](https://pubmed.ncbi.nlm.nih.gov/40900077/). *Invest Ophthalmol Vis Sci*. [Basic Science / Preclinical]
Maimaitiming R (2025). [PMID: 40315281](https://pubmed.ncbi.nlm.nih.gov/40315281/). *Cornea*. [Review / Meta-Analysis]
Matsumoto A (2025). [PMID: 40296953](https://pubmed.ncbi.nlm.nih.gov/40296953/). *Cureus*. [Case Report / Case Series]
Okudan S (2025). [PMID: 39857066](https://pubmed.ncbi.nlm.nih.gov/39857066/). *Diagnostics (Basel)*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608471

GARD

Genetic and Rare Diseases Info Center

GARD:10320

Questions for Your Care Team

→Should I pursue genetic testing for TGFBI, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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corneal dystrophy, lattice type 3A

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team