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lattice corneal dystrophy type I - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lattice corneal dystrophy type I

MONDO:0007380

Also known as:Biber-Haab-Dimmer dystrophyLCD1LCDI

Overview

Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.

GeneticsAutosomal dominant · TGFBI (chr 5)

Clinical Presentation

Features include: Recurrent corneal erosions, Progressive visual loss, and Lattice corneal dystrophy.

Organ System	Phenotype Count	Example Features
Eyes	2	Recurrent corneal erosions, Lattice corneal dystrophy

Explore clinical features

Genetic Landscape

TGFBI function has not been fully characterized.

Lattice corneal dystrophy type I 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

Estimated prevalence: Unknown (Unknown prevalence).

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 lattice corneal dystrophy type I.

13 publications have been identified in PubMed for lattice corneal dystrophy type I. Research spans Case Report / Case Series (77%) and Review / Meta-Analysis (23%).

Research Type	Count	% of Total
Patient case studies	10	77%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 8:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:122200

Orphanet

European rare disease database

Orphanet:98964

GARD

Genetic and Rare Diseases Info Center

GARD:9678

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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lattice corneal dystrophy type I

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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