Glaucoma 3A
- Synonyms
- Glaucoma 3, primary congenital, A
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
Summary
Excerpted from the GeneReview: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
- view full author information
Available tests
41 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of the eye
- Buphthalmos
Buphthalmos
- MedGen UID: 1641795
- Concept ID: C4551507
- Finding: Congenital Abnormality
Abnormality of the eye
- Late onset congenital glaucoma
Late onset congenital glaucoma
- MedGen UID: 341551
- Concept ID: C1856441
- Finding: Disease or Syndrome
Abnormality of the eye
- Raised intraocular pressure
Raised intraocular pressure
- MedGen UID: 68606
- Concept ID: C0234708
- Finding: Finding
Abnormality of the eye
- Buphthalmos
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