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

Rare Disease

primary congenital glaucoma

MONDO:0000365

Also known as:primary congenital glaucoma (disease)

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Overview

Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.

Clinical Trials2 registered

Diagnosis

Biomarker and diagnostic research for primary congenital glaucoma has been reported in the published literature.

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.

2 clinical trials registered. Interventions under study include other interventions and medical devices. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

147 publications have been identified in PubMed for primary congenital glaucoma. Research spans Clinical Trial Publication (23%), Epidemiology / Natural History (18%), and Case Report / Case Series (17%).

Research Type	Count	% of Total
Clinical study results	31

Data assembled from 3 of 12 sources · Last updated Sep 17, 2026, 7:16 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→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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primary congenital glaucoma

Overview

Diagnosis

Research Landscape

Medical References

Subtypes

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Questions for Your Care Team

Questions for Your Care Team

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