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glaucoma 3, primary congenital, D - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

glaucoma 3, primary congenital, D

MONDO:0013122

Also known as:glaucoma 3, primary congenital, type DGLC3D

Overview

GeneticsAutosomal recessive · LTBP2 (chr 14)

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include sometimes findings: Ectopia lentis. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Cloudy or opaque cornea (corneal opacity), Primary congenital glaucoma
Pregnancy and birth

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

LTBP2 encodes latent transforming growth factor beta binding protein 2 (1,821 aa). May play an integral structural role in elastic-fiber architectural organization and/or assembly Highest expression in Artery Aorta (706.6 TPM) and Artery Coronary (329.4 TPM).

Glaucoma 3, primary congenital, D is caused by mutations in the LTBP2 gene on chromosome 14.

The LTBP2 protein participates in LTBP1, LTBP3 bind TGF-Beta pathway.

LTBP2 is classified as a druggable target (Druggable Genome category) with score 0.0.

GeneReviews

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Primary congenital glaucoma (PCG) should be suspected in infants or children with the following clinical features:

Photophobia, blepharospasm, and excessive tearing
Edema and opacification of the cornea with rupture of Descemet's membrane, known as Haab's striae
Thinning of the anterior sclera and atrophy of the iris

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for glaucoma 3, primary congenital, D. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with primary congenital glaucoma (PCG), examination under anesthesia or sedation is warranted to make a complete assessment of both eyes. The examination includes the following:

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Lifelong monitoring is necessary to ensure control of IOP to preserve remaining vision and to prevent further loss of vision; the intervals at which monitoring needs to be performed vary depending on the severity of disease and control of IOP. Once IOP is controlled and the child is visually rehabilitated, follow up is typically every three months to keep IOP at the "target" level, which depends on the severity of the glaucomatous optic nerve damage and the age of the individual. Standard clinical follow-up tests include optic nerve photography and visual field testing. The complete ophthalmic evaluation often requires examination under anesthesia or sedation in infants and in young and uncooperative children. This process may be challenging to the individual, the family, and the treating physician .

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 glaucoma 3, primary congenital, D.

5 publications have been identified in PubMed for glaucoma 3, primary congenital, D. Research spans Clinical Trial Publication (40%), Basic Science / Preclinical (40%), and Case Report / Case Series (20%).

Recent Publications

Skálová N (2026). [PMID: 41996229](https://pubmed.ncbi.nlm.nih.gov/41996229/). *Cesk Slov Oftalmol*. [Clinical Trial Publication]
Zhang D (2025). [PMID: 40266593](https://pubmed.ncbi.nlm.nih.gov/40266593/). *Investigative ophthalmology & visual science*. [Basic Science / Preclinical]
Ruppert ADP (2025). [PMID: 40315799](https://pubmed.ncbi.nlm.nih.gov/40315799/). *Clinics (Sao Paulo, Brazil)*. [Clinical Trial Publication]
Torné O (2024). [PMID: 39432401](https://pubmed.ncbi.nlm.nih.gov/39432401/). *Investigative ophthalmology & visual science*. [Basic Science / Preclinical]
Bayoumi N (2024). [PMID: 38377874](https://pubmed.ncbi.nlm.nih.gov/38377874/). *Journal francais d'ophtalmologie*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613086

GARD

Genetic and Rare Diseases Info Center

GARD:18226

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

glaucoma 3, primary congenital, D

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Establishing the Diagnosis

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

glaucoma 3, primary congenital, D

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Establishing the Diagnosis

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials