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Glaucoma 3A(GLC3A)

MedGen UID:
383912
Concept ID:
C1856439
Congenital Abnormality; Disease or Syndrome
Synonym: Glaucoma 3, primary congenital, A
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): CYP1B1 (2p22.2)
 
Monarch Initiative: MONDO:0009277
OMIM®: 231300
Orphanet: ORPHA98976

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

Additional description

From OMIM
Primary congenital glaucoma is the most common type of childhood glaucoma, with autosomal recessive inheritance and an incidence ranging from 1 in 30,000 to 1 in 1,250. Signs of the disease include early onset (birth to 3 years of age), increased intraocular pressure, increased corneal diameter, enlarged globe, Haab striae (breaks in Descemet membrane), corneal edema, and optic nerve head cupping. Congenital glaucoma is a chronic disease and a serious cause of blindness worldwide (summary by Azmanov et al., 2011). Genetic Heterogeneity of Primary Congenital Glaucoma Primary congenital glaucoma-3B (GLC3B; 600975) maps to chromosome 1p36.2-p36.1. GLC3C (613085) maps to chromosome 14q24.3. GLC3D (613086) is caused by mutation in the LTBP2 gene (602091) located on chromosome 14q24 but outside the locus for GLC3C. GLC3E (617272) is caused by mutation in the TEK gene (600221) on chromosome 9p21.  http://www.omim.org/entry/231300

Clinical features

From HPO
Raised intraocular pressure
MedGen UID:
68606
Concept ID:
C0234708
Finding
Intraocular pressure that is 2 standard deviations above the population mean.
Late onset congenital glaucoma
MedGen UID:
341551
Concept ID:
C1856441
Disease or Syndrome
Buphthalmos
MedGen UID:
1641795
Concept ID:
C4551507
Congenital Abnormality
Diffusely large eye (with megalocornea) associated with glaucoma.

Term Hierarchy

Professional guidelines

PubMed

Al-Qahtani AA, Almasaud JM, Ghazi NG
Retina 2015 Oct;35(10):2091-9. doi: 10.1097/IAE.0000000000000594. PMID: 25978728
Aktas Z, Unlu M, Uludag K, Erten Y, Hasanreisoglu B
J Glaucoma 2015 Mar;24(3):214-8. doi: 10.1097/IJG.0b013e31829e54ec. PMID: 23835669
Johnson CA, Sample PA, Cioffi GA, Liebmann JR, Weinreb RN
Am J Ophthalmol 2002 Aug;134(2):177-85. doi: 10.1016/s0002-9394(02)01577-5. PMID: 12140023

Curated

UK NICE Guideline NG81, Glaucoma: diagnosis and management

Recent clinical studies

Etiology

Stalmans I, Lim KS, Oddone F, Fichtl M, Belda JI, Hommer A, Laganovska G, Schweitzer C, Voykov B, Zarnowski T, Holló G
Graefes Arch Clin Exp Ophthalmol 2024 Jan;262(1):179-190. Epub 2023 Aug 24 doi: 10.1007/s00417-023-06192-0. PMID: 37615697Free PMC Article
Realini T, McMillan B, Gross RL, Devience E, Balasubramani GK
J Glaucoma 2021 Aug 1;30(8):629-633. doi: 10.1097/IJG.0000000000001892. PMID: 34049350
Jiang Y, Wang W, Wang L, He M
Br J Ophthalmol 2021 Jul;105(7):970-976. Epub 2020 Jul 22 doi: 10.1136/bjophthalmol-2020-315852. PMID: 32699050
Lee JS, Jeoung JW, Oh S, Kim DM, Ahn JH, Kim MJ, Seong MW, Park SS, Kim JY
Ophthalmic Genet 2020 Oct;41(5):427-431. Epub 2020 Jun 28 doi: 10.1080/13816810.2020.1783690. PMID: 32597291
Beckers HJ, De Kroon KE, Nuijts RM, Webers CA
Doc Ophthalmol 2000;100(1):43-7. doi: 10.1023/a:1002778319902. PMID: 11117410

Diagnosis

Stalmans I, Lim KS, Oddone F, Fichtl M, Belda JI, Hommer A, Laganovska G, Schweitzer C, Voykov B, Zarnowski T, Holló G
Graefes Arch Clin Exp Ophthalmol 2024 Jan;262(1):179-190. Epub 2023 Aug 24 doi: 10.1007/s00417-023-06192-0. PMID: 37615697Free PMC Article
Jiang Y, Wang W, Wang L, He M
Br J Ophthalmol 2021 Jul;105(7):970-976. Epub 2020 Jul 22 doi: 10.1136/bjophthalmol-2020-315852. PMID: 32699050
de Vos IJ, Stegmann AP, Webers CA, Stumpel CT
Ophthalmic Genet 2017 Mar-Apr;38(2):101-107. Epub 2016 Apr 12 doi: 10.3109/13816810.2016.1164191. PMID: 27070436
Schweitzer C, Orignac I, Praud D, Chatoux O, Colin J
Acta Ophthalmol 2014 Sep;92(6):529-34. Epub 2013 Oct 7 doi: 10.1111/aos.12276. PMID: 24119141
Loewenstein Y, Gnatt A, Neville LF, Zakut H, Soreq H
Prog Neuropsychopharmacol Biol Psychiatry 1993 Nov;17(6):905-26. doi: 10.1016/0278-5846(93)90019-o. PMID: 8278601

Therapy

Stalmans I, Lim KS, Oddone F, Fichtl M, Belda JI, Hommer A, Laganovska G, Schweitzer C, Voykov B, Zarnowski T, Holló G
Graefes Arch Clin Exp Ophthalmol 2024 Jan;262(1):179-190. Epub 2023 Aug 24 doi: 10.1007/s00417-023-06192-0. PMID: 37615697Free PMC Article
Realini T, McMillan B, Gross RL, Devience E, Balasubramani GK
J Glaucoma 2021 Aug 1;30(8):629-633. doi: 10.1097/IJG.0000000000001892. PMID: 34049350
Jiang Y, Wang W, Wang L, He M
Br J Ophthalmol 2021 Jul;105(7):970-976. Epub 2020 Jul 22 doi: 10.1136/bjophthalmol-2020-315852. PMID: 32699050
Jee D, Huang S, Kang S, Park S
Nutrients 2020 Oct 26;12(11) doi: 10.3390/nu12113282. PMID: 33114701Free PMC Article
Singh D, Gunasekaran S, Hada M, Gogia V
Indian J Ophthalmol 2019 Jul;67(7):1089-1094. doi: 10.4103/ijo.IJO_1509_18. PMID: 31238418Free PMC Article

Prognosis

Khan M, Halim SA, Shafiq Z, Islam M, Shehzad MT, Ibrar A, Khan FA, Marraiki N, Uddin J, Khan A, Al-Harrasi A
Curr Pharm Des 2022;28(36):3010-3022. doi: 10.2174/1381612828666220729105849. PMID: 35909284
Jiang Y, Wang W, Wang L, He M
Br J Ophthalmol 2021 Jul;105(7):970-976. Epub 2020 Jul 22 doi: 10.1136/bjophthalmol-2020-315852. PMID: 32699050
Al-Qahtani AA, Almasaud JM, Ghazi NG
Retina 2015 Oct;35(10):2091-9. doi: 10.1097/IAE.0000000000000594. PMID: 25978728
Marvillet I, Terrada C, Quartier P, Quoc EB, Bodaghi B, Prieur AM
Joint Bone Spine 2009 Jul;76(4):383-8. Epub 2009 Jun 12 doi: 10.1016/j.jbspin.2008.10.015. PMID: 19524473
Loewenstein Y, Gnatt A, Neville LF, Zakut H, Soreq H
Prog Neuropsychopharmacol Biol Psychiatry 1993 Nov;17(6):905-26. doi: 10.1016/0278-5846(93)90019-o. PMID: 8278601

Clinical prediction guides

Stalmans I, Lim KS, Oddone F, Fichtl M, Belda JI, Hommer A, Laganovska G, Schweitzer C, Voykov B, Zarnowski T, Holló G
Graefes Arch Clin Exp Ophthalmol 2024 Jan;262(1):179-190. Epub 2023 Aug 24 doi: 10.1007/s00417-023-06192-0. PMID: 37615697Free PMC Article
Jiang Y, Wang W, Wang L, He M
Br J Ophthalmol 2021 Jul;105(7):970-976. Epub 2020 Jul 22 doi: 10.1136/bjophthalmol-2020-315852. PMID: 32699050
Jee D, Huang S, Kang S, Park S
Nutrients 2020 Oct 26;12(11) doi: 10.3390/nu12113282. PMID: 33114701Free PMC Article
Lee JS, Jeoung JW, Oh S, Kim DM, Ahn JH, Kim MJ, Seong MW, Park SS, Kim JY
Ophthalmic Genet 2020 Oct;41(5):427-431. Epub 2020 Jun 28 doi: 10.1080/13816810.2020.1783690. PMID: 32597291
Amari Y, Hamanaka T, Futa R
J Glaucoma 2015 Apr-May;24(4):316-22. doi: 10.1097/IJG.0b013e31829e1d6e. PMID: 23807356

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.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. 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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