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granular corneal dystrophy type I (GCD1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

granular corneal dystrophy type I

MONDO:0007377

Also known as:GCD1GCDIclassic GCD

Overview

Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.

GeneticsAutosomal dominant · TGFBI (chr 5)

Clinical Presentation

Features include: Granular corneal dystrophy, Strabismus, Nodular corneal dystrophy, and Cataract and 1 more.

Organ System	Phenotype Count	Example Features
Eyes	5	Granular corneal dystrophy, Strabismus, Nodular corneal dystrophy

Explore clinical features

Genetic Landscape

TGFBI function has not been fully characterized.

Granular 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 granular corneal dystrophy type I.

11 publications have been identified in PubMed for granular corneal dystrophy type I. Research spans Case Report / Case Series (45%), Review / Meta-Analysis (27%), and Clinical Trial Publication (9%).

Research Type	Count	% of Total
Patient case studies	5	45%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:121900

Orphanet

European rare disease database

Orphanet:98962

GARD

Genetic and Rare Diseases Info Center

GARD:9677

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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granular 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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