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Congenital glaucoma(GLC3)

MedGen UID:
42532
•Concept ID:
C0020302
•
Congenital Abnormality
Synonyms: Buphthalmos; Hydrophthalmos
SNOMED CT: Congenital glaucoma (204113001)
 
Monarch Initiative: MONDO:0020366
OMIM®: 231300

Definition

Glaucoma, the cause of which is present at birth. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital glaucoma

Professional guidelines

PubMed

Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A, Han Y, Oatts JT
PLoS One 2024;19(2):e0298883. Epub 2024 Feb 22 doi: 10.1371/journal.pone.0298883. PMID: 38386645Free PMC Article
Genetics in primary congenital glaucoma: Implications in disease management and counseling.
Leysen L, Cassiman C, Vermeer S, Casteels I, Balikova I
Eur J Med Genet 2022 Jan;65(1):104378. Epub 2021 Nov 5 doi: 10.1016/j.ejmg.2021.104378. PMID: 34748994
Primary congenital glaucoma: making strides in genetic testing, early detection and treatment.
O'Connor KA
Insight 2009 Jan-Mar;34(1):11-3. PMID: 19402463

Recent clinical studies

Etiology

The genetics of glaucoma: Disease associations, personalised risk assessment and therapeutic opportunities-A review.
Aboobakar IF, Wiggs JL
Clin Exp Ophthalmol 2022 Mar;50(2):143-162. Epub 2022 Jan 17 doi: 10.1111/ceo.14035. PMID: 35037362Free PMC Article
Approach to childhood glaucoma: A review.
Karaconji T, Zagora S, Grigg JR
Clin Exp Ophthalmol 2022 Mar;50(2):232-246. Epub 2022 Jan 25 doi: 10.1111/ceo.14039. PMID: 35023613
Early Experience with Netarsudil in Pediatric Patients: A Retrospective Case Series.
Rapuano PB, Levin AV, Price JM, Myers JS, Lee D, Shukla AG
Ophthalmol Glaucoma 2021 Mar-Apr;4(2):232-234. Epub 2020 Oct 14 doi: 10.1016/j.ogla.2020.10.005. PMID: 33065376
Corneal hysteresis and glaucoma.
Liang L, Zhang R, He LY
Int Ophthalmol 2019 Aug;39(8):1909-1916. Epub 2018 Sep 5 doi: 10.1007/s10792-018-1011-2. PMID: 30187195
Trabeculectomy.
Ferguson JG Jr, Macdonald R
South Med J 1977 Jan;70(1):73-4. doi: 10.1097/00007611-197701000-00032. PMID: 841379

Diagnosis

Vitiligo iridis in primary congenital glaucoma.
Singh A, Panigrahi A, Gupta V, Gupta S
J Fr Ophtalmol 2024 Jan;47(1):103960. Epub 2023 Sep 29 doi: 10.1016/j.jfo.2023.07.011. PMID: 37777421
Examination under anesthesia: Preferred Practice.
Dhillon HK, Agarkar S, Vijaya L, Bhende M, Baskaran M, Jaichandran VV
Indian J Ophthalmol 2023 Nov;71(11):3438-3445. doi: 10.4103/IJO.IJO_3259_22. PMID: 37870002Free PMC Article
Approach to childhood glaucoma: A review.
Karaconji T, Zagora S, Grigg JR
Clin Exp Ophthalmol 2022 Mar;50(2):232-246. Epub 2022 Jan 25 doi: 10.1111/ceo.14039. PMID: 35023613
Primary megalocornea: Case report.
de Sousa Veiga A, Nunes Rabelo N, Duarte Batista W, Mayumi Matucuma A, da Silva Brito J, Cintra Husni M
Arch Soc Esp Oftalmol (Engl Ed) 2020 Apr;95(4):201-204. Epub 2020 Feb 11 doi: 10.1016/j.oftal.2019.12.016. PMID: 32057558
Congenital glaucoma.
Yonekawa Y, Vanderveen DK, Shah AS
J Pediatr 2013 Jul;163(1):301. Epub 2013 Mar 14 doi: 10.1016/j.jpeds.2013.01.067. PMID: 23498156

Therapy

Comparative efficacies of 13 surgical interventions for primary congenital glaucoma in children: a network meta-analysis of randomized clinical trials.
Fan N, Yan L, Li M, Li S
Int J Surg 2024 May 1;110(5):3081-3082. doi: 10.1097/JS9.0000000000001046. PMID: 38748501Free PMC Article
Complicated trabeculectomy converted into ab externo cyclodialysis.
Beutinger D, Costa CCM, Kasahara N
Arq Bras Oftalmol 2024;87(2):e20220046. Epub 2024 Mar 4 doi: 10.5935/0004-2749.2022-0046. PMID: 38451677Free PMC Article
Urrets-Zavalia syndrome following goniotomy in a child.
Chelnis JG, Sieminski SF, Reynolds JD
J AAPOS 2012 Jun;16(3):312-3. doi: 10.1016/j.jaapos.2012.01.014. PMID: 22681954
Recognising congenital glaucoma.
Rudkin AK, Khong JJ, Casey TM
Med J Aust 2009 Oct 19;191(8):466-7. doi: 10.5694/j.1326-5377.2009.tb02889.x. PMID: 19835546
Pseudocholinesterase, cholinesterase and congenital glaucoma.
Alfano JE
Am J Ophthalmol 1966 May;61(5 Pt 2):985-7. doi: 10.1016/0002-9394(66)90211-x. PMID: 5938023

Prognosis

Primary congenital glaucoma in Vietnam: analysis and identification of novel CYP1B1 variants.
Tran HT, Tran HT, Luong LH, Nguyen TS, Nguyen HQ, Vu TT, Ta TD, Dao TMA, Bui TH, Ta TV, Tran VK
Ophthalmic Genet 2019 Jun;40(3):286-287. Epub 2019 May 31 doi: 10.1080/13816810.2019.1616304. PMID: 31149863
Corneal hysteresis and glaucoma.
Liang L, Zhang R, He LY
Int Ophthalmol 2019 Aug;39(8):1909-1916. Epub 2018 Sep 5 doi: 10.1007/s10792-018-1011-2. PMID: 30187195
Pediatric ocular inflammation.
Wagner RS, Aquino M
Immunol Allergy Clin North Am 2008 Feb;28(1):169-88, vii. doi: 10.1016/j.iac.2007.12.003. PMID: 18282551
Trabeculectomy.
Ferguson JG Jr, Macdonald R
South Med J 1977 Jan;70(1):73-4. doi: 10.1097/00007611-197701000-00032. PMID: 841379
Congenital glaucoma.
Williams H
Dev Med Child Neurol 1971 Apr;13(2):231-4. doi: 10.1111/j.1469-8749.1971.tb03249.x. PMID: 5562864

Clinical prediction guides

Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.
Hadrami M, Bonnet C, Zeitz C, Veten F, Biya M, Hamed CT, Condroyer C, Wang P, Sidi MM, Cheikh S, Zhang Q, Audo I, Petit C, Houmeida A
Mol Vis 2019;25:373-381. Epub 2019 Jul 13 PMID: 31367175Free PMC Article
Corneal hysteresis and glaucoma.
Liang L, Zhang R, He LY
Int Ophthalmol 2019 Aug;39(8):1909-1916. Epub 2018 Sep 5 doi: 10.1007/s10792-018-1011-2. PMID: 30187195
Phacomatosis pigmentovascularis: Report of four new cases.
Nanda A, Al-Abdulrazzaq HK, Habeeb YK, Zakkiriah M, Alghadhfan F, Al-Noun R, Al-Ajmi H
Indian J Dermatol Venereol Leprol 2016 May-Jun;82(3):298-303. doi: 10.4103/0378-6323.178905. PMID: 27088932
The Genetics and the Genomics of Primary Congenital Glaucoma.
Cascella R, Strafella C, Germani C, Novelli G, Ricci F, Zampatti S, Giardina E
Biomed Res Int 2015;2015:321291. Epub 2015 Sep 16 doi: 10.1155/2015/321291. PMID: 26451367Free PMC Article
Endophthalmitis following pediatric intraocular surgery for congenital cataracts and congenital glaucoma.
Wheeler DT, Stager DR, Weakley DR Jr
J Pediatr Ophthalmol Strabismus 1992 May-Jun;29(3):139-41. doi: 10.3928/0191-3913-19920501-04. PMID: 1432496

Recent systematic reviews

Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A, Han Y, Oatts JT
PLoS One 2024;19(2):e0298883. Epub 2024 Feb 22 doi: 10.1371/journal.pone.0298883. PMID: 38386645Free PMC Article
Prenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review.
Mahmoud A, Pomar L, Lambert V, Picone O, Hcini N
Ocul Immunol Inflamm 2024 Nov;32(9):2217-2227. Epub 2024 Feb 13 doi: 10.1080/09273948.2024.2314086. PMID: 38350011
Comparing Gene Panels for Non-Retinal Indications: A Systematic Review.
Procopio R, Pulido JS, Gunton KB, Syed ZA, Lee D, Moster ML, Sergott R, Neidich JA, Reynolds MM
Genes (Basel) 2023 Mar 17;14(3) doi: 10.3390/genes14030738. PMID: 36981008Free PMC Article
Biallelic variants in CPAMD8 are associated with primary open-angle glaucoma and primary angle-closure glaucoma.
Li X, Sun W, Xiao X, Fang L, Li S, Liu X, Zhang Q
Br J Ophthalmol 2022 Dec;106(12):1710-1715. Epub 2021 Jun 21 doi: 10.1136/bjophthalmol-2020-318668. PMID: 34154991
Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.
Jemmeih S, Malik S, Okashah S, Zayed H
Ophthalmic Epidemiol 2022 Feb;29(1):1-12. Epub 2021 Feb 28 doi: 10.1080/09286586.2021.1883676. PMID: 33641569

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