GTR Home > Conditions/Phenotypes > Glaucoma, congenital

Disease characteristics

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 (Haabs 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 (hyperlacrimation). 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 cases, blindness invariably occurs.

Available tests

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Associated genes

Clinical features

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  • Increased intraocular pressure
  • Late onset congenital glaucoma
  • Buphthalmos

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