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Glaucoma 3, primary congenital, E(GLC3E)

MedGen UID:
934606
Concept ID:
C4310639
Disease or Syndrome
Synonym: GLC3E
 
Gene (location): TEK (9p21.2)
 
Monarch Initiative: MONDO:0014998
OMIM®: 617272

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
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Raised intraocular pressure
MedGen UID:
68606
Concept ID:
C0234708
Finding
Intraocular pressure that is 2 standard deviations above the population mean.
Megalocornea
MedGen UID:
138008
Concept ID:
C0344530
Congenital Abnormality
Megalocornea is an inherited eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as 'anterior megalophthalmos,' since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation. X-linked recessive inheritance is the most common pattern, accounting for the male preponderance of the disorder (summary by Skuta et al., 1983). Megalocornea sometimes occurs as part of the Marfan syndrome (154700). Genetic Heterogeneity of Megalocornea Autosomal recessive megalocornea has been reported (249300).
Corneal stromal edema
MedGen UID:
96883
Concept ID:
C0474444
Finding
Abnormal accumulation of fluid and swelling of the stroma of cornea.
Increased cup-to-disc ratio
MedGen UID:
812241
Concept ID:
C3805911
Finding
An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells.

Recent clinical studies

Etiology

Zhang Z, Fu Y, Wang J, Ji X, Li Z, Zhao Y, Chang P, Zhao YE
BMC Ophthalmol 2022 Mar 12;22(1):118. doi: 10.1186/s12886-022-02343-9. PMID: 35279111Free PMC Article
Bayoumi N, El Shakankiry N, Fouad M, Elsayed EN
Eye Contact Lens 2021 Nov 1;47(11):611-616. doi: 10.1097/ICL.0000000000000789. PMID: 33870929
Rolim H, Cronemberger S, Rangel H, Batista WD, Bastos-Rodrigues L, De Marco L
J Glaucoma 2016 Jan;25(1):e24-8. doi: 10.1097/IJG.0000000000000167. PMID: 25265008
Maeda-Chubachi T, Chi-Burris K, Simons BD, Freedman SF, Khaw PT, Wirostko B, Yan E; A6111137 Study Group
Ophthalmology 2011 Oct;118(10):2014-21. Epub 2011 Jun 16 doi: 10.1016/j.ophtha.2011.03.010. PMID: 21680022
Genĉík A
Dev Ophthalmol 1989;16:76-115. PMID: 2676634

Diagnosis

Young TL, Whisenhunt KN, Jin J, LaMartina SM, Martin SM, Souma T, Limviphuvadh V, Suri F, Souzeau E, Zhang X, Dan Y, Anagnos E, Carmona S, Jody NM, Stangel N, Higuchi EC, Huang SJ, Siggs OM, Simões MJ, Lawson BM, Martin JS, Elahi E, Narooie-Nejad M, Motlagh BF, Quaggin SE, Potter HD, Silva ED, Craig JE, Egas C, Maroofian R, Maurer-Stroh S, Bradfield YS, Tompson SW
Invest Ophthalmol Vis Sci 2020 Oct 1;61(12):6. doi: 10.1167/iovs.61.12.6. PMID: 33027505Free PMC Article
Rolim H, Cronemberger S, Rangel H, Batista WD, Bastos-Rodrigues L, De Marco L
J Glaucoma 2016 Jan;25(1):e24-8. doi: 10.1097/IJG.0000000000000167. PMID: 25265008
Maeda-Chubachi T, Chi-Burris K, Simons BD, Freedman SF, Khaw PT, Wirostko B, Yan E; A6111137 Study Group
Ophthalmology 2011 Oct;118(10):2014-21. Epub 2011 Jun 16 doi: 10.1016/j.ophtha.2011.03.010. PMID: 21680022
Omoti AE
Niger Postgrad Med J 2005 Sep;12(3):189-92. PMID: 16160721
Genĉík A
Dev Ophthalmol 1989;16:76-115. PMID: 2676634

Therapy

Greer C, Bhakta H, Ghanem L, Refai F, Linn E, Avella M
Hum Reprod 2021 Feb 18;36(3):734-755. doi: 10.1093/humrep/deaa347. PMID: 33417716
Maeda-Chubachi T, Chi-Burris K, Simons BD, Freedman SF, Khaw PT, Wirostko B, Yan E; A6111137 Study Group
Ophthalmology 2011 Oct;118(10):2014-21. Epub 2011 Jun 16 doi: 10.1016/j.ophtha.2011.03.010. PMID: 21680022

Prognosis

Zhang Z, Fu Y, Wang J, Ji X, Li Z, Zhao Y, Chang P, Zhao YE
BMC Ophthalmol 2022 Mar 12;22(1):118. doi: 10.1186/s12886-022-02343-9. PMID: 35279111Free PMC Article
Rolim H, Cronemberger S, Rangel H, Batista WD, Bastos-Rodrigues L, De Marco L
J Glaucoma 2016 Jan;25(1):e24-8. doi: 10.1097/IJG.0000000000000167. PMID: 25265008
Chak M, Rahi JS; British Congenital Cataract Interest Group
Ophthalmology 2008 Jun;115(6):1013-1018.e2. Epub 2007 Dec 27 doi: 10.1016/j.ophtha.2007.09.002. PMID: 18164065
Genĉík A
Dev Ophthalmol 1989;16:76-115. PMID: 2676634
Inaba Z
Jpn J Ophthalmol 1982;26(4):361-73. PMID: 7166896

Clinical prediction guides

Zhang Z, Fu Y, Wang J, Ji X, Li Z, Zhao Y, Chang P, Zhao YE
BMC Ophthalmol 2022 Mar 12;22(1):118. doi: 10.1186/s12886-022-02343-9. PMID: 35279111Free PMC Article
Bayoumi N, El Shakankiry N, Fouad M, Elsayed EN
Eye Contact Lens 2021 Nov 1;47(11):611-616. doi: 10.1097/ICL.0000000000000789. PMID: 33870929
Woodard DR, Nakahara E, Hulleman JD
Sci Rep 2021 Feb 4;11(1):2998. doi: 10.1038/s41598-020-79570-x. PMID: 33542268Free PMC Article
Young TL, Whisenhunt KN, Jin J, LaMartina SM, Martin SM, Souma T, Limviphuvadh V, Suri F, Souzeau E, Zhang X, Dan Y, Anagnos E, Carmona S, Jody NM, Stangel N, Higuchi EC, Huang SJ, Siggs OM, Simões MJ, Lawson BM, Martin JS, Elahi E, Narooie-Nejad M, Motlagh BF, Quaggin SE, Potter HD, Silva ED, Craig JE, Egas C, Maroofian R, Maurer-Stroh S, Bradfield YS, Tompson SW
Invest Ophthalmol Vis Sci 2020 Oct 1;61(12):6. doi: 10.1167/iovs.61.12.6. PMID: 33027505Free PMC Article
Thomson BR, Souma T, Tompson SW, Onay T, Kizhatil K, Siggs OM, Feng L, Whisenhunt KN, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Tanna CE, Hewitt AW, Mackey DA, Bradfield YS, Souzeau E, Javadiyan S, Wiggs JL, Pasutto F, Liu X, John SW, Craig JE, Jin J, Young TL, Quaggin SE
J Clin Invest 2017 Dec 1;127(12):4421-4436. Epub 2017 Nov 6 doi: 10.1172/JCI95545. PMID: 29106382Free PMC Article

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