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Glaucoma 3, primary infantile, B(GLC3B)

MedGen UID:
331409
Concept ID:
C1832977
Disease or Syndrome
Synonyms: Glaucoma primary congenita type 3B; GLAUCOMA, PRIMARY CONGENITAL, TYPE B; GLC3 type B; GLC3B; Primary congenital glaucoma type 3B
 
Genes (locations): CYP1B1 (2p22.2); LTBP2 (14q24.3); TEK (9p21.2)
 
Monarch Initiative: MONDO:0010968
OMIM®: 600975

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 (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. [from GeneReviews]
Authors:
Khaled K Abu-Amero  |  Deepak P Edward   view full author information

Clinical features

From HPO
Primary congenital glaucoma
MedGen UID:
288550
Concept ID:
C1533041
Disease or Syndrome
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.

Professional guidelines

PubMed

Al-Haddad C, Abdulaal M, Badra R, Barikian A, Noureddine B, Farra C
Ophthalmic Genet 2016;37(1):31-6. Epub 2014 Jun 18 doi: 10.3109/13816810.2014.924015. PMID: 24940937

Curated

UK NICE Guideline NG81, Glaucoma: diagnosis and management

Recent clinical studies

Etiology

Qiao Y, Shao T, Chen Y, Chen J, Sun X, Chen X
Ophthalmic Genet 2023 Apr;44(2):133-138. Epub 2022 Oct 3 doi: 10.1080/13816810.2022.2109683. PMID: 36193031
Al-Haddad C, Abdulaal M, Badra R, Barikian A, Noureddine B, Farra C
Ophthalmic Genet 2016;37(1):31-6. Epub 2014 Jun 18 doi: 10.3109/13816810.2014.924015. PMID: 24940937

Diagnosis

Al-Haddad C, Abdulaal M, Badra R, Barikian A, Noureddine B, Farra C
Ophthalmic Genet 2016;37(1):31-6. Epub 2014 Jun 18 doi: 10.3109/13816810.2014.924015. PMID: 24940937
Ko F, Papadopoulos M, Khaw PT
Prog Brain Res 2015;221:177-89. Epub 2015 Sep 9 doi: 10.1016/bs.pbr.2015.06.005. PMID: 26518078

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2022
      UK NICE Guideline NG81, Glaucoma: diagnosis and management

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