Glaucoma 3, Primary Congenital, A

Alternative Names

  • GLC3A
  • Glaucoma, Congenital
  • GLC3
  • Buphthalmos
  • Glaucoma, Primary Open Angle, Adult-Onset
  • Glaucoma, Primary Open Angle, Juvenile-Onset
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

OMIM Number

231300

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2p22-p21

Description

Glaucoma is a progressive optic neuropathy characterized by a degeneration of the optic nerve, which is usually associated with elevated intraocular pressure. The increase in intraocular pressure is probably caused by a reduction in outflow of aqueous humor through the trabecular outflow pathways. The degeneration of the optic nerve is the result of the loss of individual retinal ganglion cells, where the ganglion cells die by an apoptotic mechanism. The prevalence of primary congenital glaucoma varies across ethnic communities and geographical boundaries, ranging from 1 in 10,000-20,000 in the western populations to 1 in 2,500 and 1 in 1,250 in the Saudi Arabian and Gypsy populations of Slovakia, respectively.

More than 55 different mutations in the coding region of this gene have been identified in CYP1B1 to be causal for primary congenital glaucoma in different ethnic backgrounds and populations highlighting the allelic heterogeneity of the condition. Molecular modeling experiments suggest that mutations observed in primary congenital glaucoma patients interfere with the integrity of the CYP1B1 molecule as well as its ability to adopt a normal conformation and bind heme.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
231300.1KuwaitUnknownYes Primary congenital glaucoma; Abnormal i...NM_000104.3:c.182G>AHomozygousAutosomal, RecessiveAlfadhli et al. 2006 Bad prognosis
231300.1.1Saudi ArabiaMaleYesYes Primary congenital glaucoma; Abnormal i...NM_000104.3:c.182G>AHomozygousAutosomal, RecessiveKhan et al. 2011
231300.1.2Saudi ArabiaFemaleYesYes Primary congenital glaucoma; Abnormal i...NM_000104.3:c.182G>AHomozygousAutosomal, RecessiveKhan et al. 2011 Sister of 231300.1.1
231300.2KuwaitUnknownYes Primary congenital glaucoma; Abnormal i...NM_000104.3:c.182G>A, NM_000104.3:c.1265T>CHomozygousAutosomal, RecessiveAlfadhli et al. 2006 Good prognosis with ...
231300.3KuwaitUnknownYes Primary congenital glaucoma; Abnormal i...NM_000104.3:c.182G>A, NM_000104.3:c.1265T>CHomozygousAutosomal, RecessiveAlfadhli et al. 2006 Good prognosis with ...
231300.4KuwaitUnknownYes Primary congenital glaucoma; Abnormal i...NM_000104.3:c.182G>AHomozygousAutosomal, RecessiveAlfadhli et al. 2006 Bad prognosis
231300.5KuwaitUnknownYes Primary congenital glaucoma; Abnormal i...NM_000104.3:c.182G>AHomozygousAutosomal, RecessiveAlfadhli et al. 2006
231300.6KuwaitUnknownYes Primary congenital glaucoma; Abnormal i...NM_000104.3:c.182G>AHomozygousAutosomal, RecessiveAlfadhli et al. 2006 Good prognosis with ...
231300.7KuwaitUnknownYes Primary congenital glaucoma; Abnormal i...NM_000104.3:c.182G>AHomozygousAutosomal, RecessiveAlfadhli et al. 2006 Good prognosis with ...
231300.8KuwaitUnknownYes Primary congenital glaucoma; Abnormal i...NM_000104.3:c.182G>AHomozygousAutosomal, RecessiveAlfadhli et al. 2006 Good prognosis with ...
231300.9KuwaitUnknownYes Primary congenital glaucoma; Abnormal i...NM_000104.3:c.182G>AHomozygousAutosomal, RecessiveAlfadhli et al. 2006 Good prognosis with ...
231300.10KuwaitUnknown Primary congenital glaucoma; Abnormal i...NM_000104.3:c.1265T>C, NM_000104.3:c.1103G>A, NM_000104.3:c.1162G>AHeterozygous, HomozygousAutosomal, RecessiveAlfadhli et al. 2006 Good prognosis with ...
231300.11KuwaitUnknown Primary congenital glaucoma; Abnormal i...NM_000104.3:c.182G>A, NM_000104.3:c.1265T>C, NM_000104.3:c.1162G>AHeterozygous, HomozygousAutosomal, RecessiveAlfadhli et al. 2006 Good prognosis with ...
231300.12KuwaitUnknown Primary congenital glaucoma; Abnormal i...NM_000104.3:c.1162G>AHeterozygousAutosomal, RecessiveAlfadhli et al. 2006 Bad prognosis
231300.13Saudi ArabiaFemaleNoYes Primary congenital glaucomaNM_000104.3:c.182G>AHomozygousAutosomal, RecessiveKhan et al. 2011 Stromal loss
231300.14Saudi Arabia Primary congenital glaucoma;NM_000104.3:c.182G>A, NM_000104.3:c.1103G>AHeterozygousX-linked, RecessiveKhan et al. 2011
231300.15Saudi Arabia Primary congenital glaucoma;NM_000104.3:c.182G>A, NM_000104.3:c.1379T>AHeterozygousX-linked, RecessiveKhan et al. 2011
231300.16Saudi Arabia Primary congenital glaucoma;NM_000104.3:c.182G>A, NM_000104.3:c.442delGHeterozygousX-linked, RecessiveKhan et al. 2011
231300.17Saudi Arabia Primary congenital glaucoma;NM_000104.3:c.1555A>GHeterozygousX-linked, RecessiveKhan et al. 2011
231300.18Saudi Arabia Primary congenital glaucoma;NM_000104.3:c.1064_1076delGAGTGCAGGCAGHomozygousX-linked, RecessiveKhan et al. 2011
231300.19Saudi Arabia Primary congenital glaucoma;NM_000104.3:c.868dupHomozygousX-linked, RecessiveKhan et al. 2011
231300.20Saudi Arabia Primary congenital glaucoma;NM_000104.3:c.1405C>T, NM_000104.3:c.517G>AHeterozygousX-linked, RecessiveKhan et al. 2011
231300.21Saudi Arabia Primary congenital glaucoma;NM_000104.3:c.1405C>T, NM_000104.3:c.868dupHeterozygousX-linked, RecessiveKhan et al. 2011
231300.22OmanMaleNoNo Primary congenital glaucomaNM_000104.3:c.1103G>AHomozygousAutosomal, RecessiveEl-Gayar et al. 2009
231300.23OmanFemaleYesYes Primary congenital glaucomaNM_000104.3:c.1120G>AHomozygousAutosomal, RecessiveEl-Gayar et al. 2009
231300.24OmanFemaleNoYes Primary congenital glaucomaNM_000104.3:c.182G>AHomozygousAutosomal, RecessiveEl-Gayar et al. 2009
231300.25OmanFemaleYesYes Primary congenital glaucomaNM_000104.3:c.685G>AHeterozygousAutosomal, RecessiveEl-Gayar et al. 2009
231300.26OmanMaleNoYes Primary congenital glaucomaNM_000104.3:c.182G>A, NM_000104.3:c.1103G>AHeterozygousAutosomal, RecessiveEl-Gayar et al. 2009
231300.27OmanMaleYesYes Primary congenital glaucomaNM_000104.3:c.1120G>AHomozygousAutosomal, RecessiveEl-Gayar et al. 2009
231300.28OmanFemaleYesYes Primary congenital glaucomaNM_000104.3:c.182G>AHomozygousAutosomal, RecessiveEl-Gayar et al. 2009
231300.29OmanMaleNoYes Primary congenital glaucomaNM_000104.3:c.1103G>AHomozygousAutosomal, RecessiveEl-Gayar et al. 2009
231300.30MoroccoMaleYes Primary congenital glaucomaNM_000104.3:c.517G>A, NM_000104.3:c.535delGHeterozygousAutosomal, RecessiveHilal et al. 2010 No response to surge...
231300.31MoroccoMaleNo Primary congenital glaucomaNM_000104.3:c.535delG, NM_000104.3:c.1090G>AHeterozygousAutosomal, RecessiveHilal et al. 2010 Bad prognosis
231300.32MoroccoMaleNo Primary congenital glaucomaNM_000104.3:c.1103G>AHeterozygousAutosomal, RecessiveHilal et al. 2010 No response to surge...
231300.33MoroccoMaleNo Primary congenital glaucomaNM_000104.3:c.182G>AHomozygousAutosomal, RecessiveHilal et al. 2010 Bad prognosis
231300.34MoroccoFemaleYes Primary congenital glaucomaNM_000104.3:c.517G>A, NM_000104.3:c.535delGHeterozygousAutosomal, RecessiveHilal et al. 2010
231300.35MoroccoMaleNo Primary congenital glaucomaNM_000104.3:c.182G>A, NM_000104.3:c.535delGHeterozygousAutosomal, RecessiveHilal et al. 2010 No response to surge...
231300.36MoroccoMaleYes Primary congenital glaucomaNM_000104.3:c.1168C>AHomozygousAutosomal, RecessiveHilal et al. 2010 Bad prognosis
231300.37MoroccoFemaleYes Primary congenital glaucomaNM_000104.3:c.182G>AHomozygousAutosomal, RecessiveHilal et al. 2010 Bad prognosis
231300.38MoroccoMaleNo Primary congenital glaucomaNM_000104.3:c.182G>AHomozygousAutosomal, RecessiveHilal et al. 2010 Bad prognosis
231300.39MoroccoFemaleYes Primary congenital glaucomaNM_000104.3:c.1405C>THomozygousAutosomal, RecessiveHilal et al. 2010
231300.40MoroccoMaleNo Primary congenital glaucomaNM_000104.3:c.182G>A, NM_000104.3:c.1090G>AHeterozygousAutosomal, RecessiveHilal et al. 2010 Bad prognosis
231300.41MoroccoFemaleYes Primary congenital glaucomaNM_000104.3:c.182G>AHomozygousAutosomal, RecessiveHilal et al. 2010 No response to surge...
231300.42MoroccoMaleYes Primary congenital glaucomaNM_000104.3:c.182G>AHomozygousAutosomal, RecessiveHilal et al. 2010 Bad prognosis
231300.43MoroccoFemaleYes Primary congenital glaucomaNM_000104.3:c.1409G>AHomozygousAutosomal, RecessiveHilal et al. 2010 Bad prognosis
231300.44MoroccoFemaleYes Primary congenital glaucomaNM_000104.3:c.487C>THomozygousAutosomal, RecessiveHilal et al. 2010
231300.45LebanonMaleYes Primary congenital glaucoma; Corneal st...NM_000104.3:c.685G>A, NM_000104.3:c.1331G>AHeterozygousAutosomal, RecessiveAl-Haddad et al. 2016
231300.46LebanonFemaleYes Primary congenital glaucomaNM_000104.3:c.182G>AHomozygousAutosomal, RecessiveAl-Haddad et al. 2016
231300.47LebanonMaleNo Primary congenital glaucoma; Corneal st...NM_000104.3:c.1405C>THomozygousAutosomal, RecessiveAl-Haddad et al. 2016
231300.48LebanonMaleNo Primary congenital glaucoma; Corneal st...NM_000104.3:c.2T>CHomozygousAutosomal, RecessiveAl-Haddad et al. 2016
231300.49LebanonFemaleNo Primary congenital glaucoma; Corneal st...NM_000104.3:c.182G>AHomozygousAutosomal, RecessiveAl-Haddad et al. 2016
601631.1.1LebanonFemaleYesYes Primary congenital glaucoma; Aniridia; ...NM_001937.5:c.446A>GHeterozygousAutosomal, DominantKhalil et al, 2017
601631.1.2LebanonMaleYesYes Primary congenital glaucoma; AniridiaNM_001937.5:c.446A>GHeterozygousAutosomal, DominantKhalil et al, 2017 Sibling of 601631.1....
601631.1.3LebanonFemaleYesYes Primary congenital glaucoma; Aniridia; ...NM_001937.5:c.446A>GHeterozygousAutosomal, DominantKhalil et al, 2017 Sibling of 601631.1....
231300.G.2Saudi ArabiaUnknown Primary congenital glaucomaNM_000104.3:c.182G>AHomozygousAutosomal, RecessiveBejjani et al. 2000 Group of 39 families...
231300.G.3Saudi ArabiaUnknown Primary congenital glaucomaNM_000104.3:c.182G>A, NM_000104.3:c.1120G>AHeterozygousAutosomal, RecessiveBejjani et al. 2000 Group of 2 families ...
231300.G.4Saudi ArabiaUnknown Primary congenital glaucomaNM_000104.3:c.182G>A, NM_000104.3:c.1405C>THeterozygousAutosomal, RecessiveBejjani et al. 2000 Group of 2 families ...
231300.G.5Saudi ArabiaUnknown Primary congenital glaucomaNM_000104.3:c.1405C>THomozygousAutosomal, RecessiveBejjani et al. 2000 Group of 6 families ...
231300.G.6Saudi ArabiaUnknown Primary congenital glaucomaNM_000104.3:c.1120G>AHomozygousAutosomal, RecessiveBejjani et al. 2000 Group of 3 families ...
231300.G.7Saudi ArabiaUnknown Primary congenital glaucomaNM_000104.3:c.1103G>AHomozygousAutosomal, RecessiveBejjani et al. 2000 One affected family;...
231300.G.8Saudi ArabiaUnknown Primary congenital glaucomaNM_000104.3:c.1168C>AHomozygousAutosomal, RecessiveBejjani et al. 2000 One affected family
231300.G.9Saudi ArabiaUnknown Primary congenital glaucomaNM_000104.3:c.230T>CHomozygousAutosomal, RecessiveBejjani et al. 2000 One affected family
231300.G.10Saudi Arabia Primary congenital glaucoma;NM_000104.3:c.182G>AHomozygousX-linked, RecessiveKhan et al. 2011 38 affected individu...
231300.G.11Saudi Arabia Primary congenital glaucoma;NM_000104.3:c.182G>A, NM_000104.3:c.1405C>THeterozygousX-linked, RecessiveKhan et al. 2011 4 affected individua...
231300.G.12Saudi Arabia Primary congenital glaucoma;NM_000104.3:c.1405C>THomozygousX-linked, RecessiveKhan et al. 2011 3 affected individua...
231300.G.13Saudi Arabia Primary congenital glaucoma;NM_000104.3:c.1454C>THomozygousX-linked, RecessiveKhan et al. 2011 3 affected individua...
231300.G.14Saudi Arabia Primary congenital glaucoma;NM_000104.3:c.1517_1536delHomozygousX-linked, RecessiveKhan et al. 2011 2 affected individua...
231300.G.15Saudi Arabia Primary congenital glaucoma;NM_000104.3:c.756C>AHomozygousX-linked, RecessiveKhan et al. 2011 2 affected individua...
231300.G.16Morocco Primary congenital glaucomaNM_000104.3:c.535delGHomozygousAutosomal, RecessiveBelmouden et al. 2002 7 affected patients
231300.G.17Morocco Primary congenital glaucomaNM_000104.3:c.182G>AHomozygousAutosomal, RecessiveBelmouden et al. 2002 2 affected patients

Other Reports

Lebanon

Noureddin et al (2006) described eight patients with primary congenital glaucoma who were managed with either viscoanalostomy or trabeculotomy. Only one of these patients had a positive family history.  

Palestine

Levy et al. (2005) analyzed the final outcome of surgery in 25 Arab Bedouin children with primary congenital glaucoma (PCG) presenting within the age of three months. Of the 45 eyes operated upon, 39 eyes (86.5%) were successfully surgically corrected. Cases with no family history showed a better rate of success. 

Saudi Arabia

Al-Zahrani (2002) reported a 5 and half year-old Saudi girl, born to first-degree consanguineous parents, who presented at birth with severe bilateral congenital glaucoma and ambiguous genitalia.  Her 14-year-old brother had severe bilateral congenital glaucoma and lostvision in both eyes.  In addition, her 10 and a half-year-old sister had ambiguous genitalia with large clitoris, no palpable gonads, and labioscrotal fusion. One of her first cousins had died at 4-months of age had ambiguous genitalia as well.

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