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GTR Home > Conditions/Phenotypes > Glaucoma 3, primary infantile, B

Glaucoma 3, primary infantile, B

Synonyms
GLAUCOMA, PRIMARY CONGENITAL, TYPE B; GLC3 type B; GLC3B; Glaucoma primary congenita type 3B; Primary congenital glaucoma type 3B

Summary

Excerpted from the GeneReview: Primary Congenital Glaucoma
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.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Khaled K Abu-Amero
Deepak P Edward
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Available tests

28 tests are in the database for this condition.

Clinical tests (27 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: ASGD6, CP1B, CYPIB1, GLC3A, P4501B1, CYP1B1
    Summary: cytochrome P450 family 1 subfamily B member 1

  • Also known as: C14orf141, GLC3D, LTBP3, MSPKA, MSTP031, WMS3, LTBP2
    Summary: latent transforming growth factor beta binding protein 2

  • Also known as: CD202B, GLC3E, TIE-2, TIE2, VMCM, VMCM1, TEK
    Summary: TEK receptor tyrosine kinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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