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

Rare Disease

congenital glaucoma

MONDO:0020366

Also known as:Buphthalmusbuphthalmiabuphthalmos

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Overview

A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.

Clinical Trials2 registered

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.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

TEK-related venous malformations (VM) encompass several phenotypes including isolated (or unifocal) VM, multifocal sporadic VM (MSVM), multiple cutaneous and mucosal VM (VMCM), and blue rubber bleb nevus (BRBN) syndrome. Table 2. TEK-Related Venous Malformations: Comparison of Phenotypes by Select Features

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

TEK-related venous malformations (VM) encompass a range of VM caused by germline (familial or inherited) or somatic (mosaic) pathogenic variants in TEK. Based on the phenotype and type of TEK variant, several phenotypes are delineated .

Suggestive Findings

TEK-related VM should be suspected in a proband with the following clinical features, laboratory findings, and family history.

Clinical Features

Cutaneous and/or mucosal bluish-purple VM can be either single or multiple, and can vary in size from a few millimeters in diameter to larger lesions affecting an entire extremity (see and ).

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 congenital glaucoma. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for TEK-related venous malformations (VM) have been published. However, diagnostic and management recommendations have been proposed by the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN) (full text). Evaluations Following Initial Diagnosis To establish the extent of disease and management needs in an individual diagnosed with TEK-related VM, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with TEK-Related Venous Malformations

Prognosis

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

GeneReviews

Surveillance Guidelines

To monitor existing manifestations of TEK-related VM, the individual's response to treatment, and the emergence of new manifestations, the evaluations in are recommended. Table 7. Recommended Surveillance for Individuals with TEK-Related Venous Malformations

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.

217 publications have been identified in PubMed for congenital glaucoma. Research spans Clinical Trial Publication (26%), Case Report / Case Series (25%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Clinical study results	56

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:53 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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GeneReviews

Differential Diagnosis

Table 3. Genes of Interest in the Differential Diagnosis of TEK-Related Venous Malformations

Gene	Disorder	MOI	Phenotype	Comment
GLMN	Glomuvenous malformations (OMIM 138000)	AD1,2	Similar to VMCM:; Inherited; Multifocal; Small cutaneous venous-like lesions; Most lesions located on extremities Unlike VMCM:; Not usually seen on mucous membranes; Cobblestone appearance	Deeper purple in color than VMCM; Painful on palpation; Less invasive than sporadic VM
PIK3CA	PIK3CA-related vascular malformations (See PIK3CA-Related Overgrowth Spectrum.)	Mosaic (not known to be inherited)3	GoF of PIK3CA in 20% of isolated VM	A pathogenic variant in PIK3CA is observed in various PIK3CA-related overgrowth syndromes, in which combined vascular malformations are assoc w/hypertrophy of soft tissues often involve the skeleton.
KRIT1 (CCM1)CCM2CCM3	Cerebral cavernous malformation (CCM) (OMIM 116860)	Sporadicor AD (20% of CCM)4	9% of persons w/CCM have cutaneous vascular malformations, incl nodular cutaneous VM; Single or multiple nodules, typically all over body; Most lesions are not present at birth, new lesions may emerge into adulthood.; Size ranges from 1 mm to 5 cm.	CCM affects up to 0.5% of population.; Vascular lesions typically arise in central nervous system.; CCM usually manifests between age 20-30 years, but clinical manifestations can occur at any age.
MAP3K3	Verrucous VM (VVM)	Mosaic (not known to be inherited)5	VVM present at birth or early during infancy.; Most commonly affecting lower limbs; Well-circumscribed purple hyperkeratotic linear plaques	Very similar lesions, called hyperkeratotic cutaneous capillary-venous malformations (HCCVM), can occur in CCM, mostly in CCM1.

Source: GeneReviews — "TEK-Related Venous Malformations"

System/Concern	Evaluation	Comment
Gastrointestinal VM	Endoscopic eval abdominal imaging	To evaluate risk of bleeding, obstruction, involvement, occlusion Coagulopathy
Genetic counseling	By genetics professionals3	To inform affected persons their families re nature, MOI, implications of TEK-related VM to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with TEK-Related Venous Malformations Manifestation/Concern	Treatment	Considerations/Other
VM	Sclerotherapy (treatment of choice); foam aethoxysclerol bleomycin are preferentially used as sclerosing agents	Mgmt depends largely on size location of lesion(s).; Although sclerotherapy is the treatment of choice, sclerosing agents are not specific can lead to ulceration if the VM is mucosal or involves the epidermis.1 Surgical resection

Kisho

congenital glaucoma

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Clinical Features

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

congenital glaucoma

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Clinical Features

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications