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Abnormal anterior eye segment morphology

MedGen UID:
870894
•Concept ID:
C4025355
•
Anatomical Abnormality
Synonyms: Abnormal anterior segment morphology; Abnormality of the anterior segment of the eye; Abnormality of the anterior segment of the eyeball; Abnormality of the anterior segment of the globe
 
HPO: HP:0004328

Definition

An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormal anterior eye segment morphology

Professional guidelines

PubMed

Diagnosis and treatment of microspherophakia.
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J Cataract Refract Surg 2020 Dec;46(12):1674-1679. doi: 10.1097/j.jcrs.0000000000000334. PMID: 32694307
The Immunological Basis of Dry Eye Disease and Current Topical Treatment Options.
Periman LM, Perez VL, Saban DR, Lin MC, Neri P
J Ocul Pharmacol Ther 2020 Apr;36(3):137-146. Epub 2020 Mar 12 doi: 10.1089/jop.2019.0060. PMID: 32175799Free PMC Article
PLATEAU IRIS--DIAGNOSIS AND TREATMENT.
Stefan C, Iliescu DA, Batras M, Timaru CM, De Simone A
Rom J Ophthalmol 2015 Jan-Mar;59(1):14-8. PMID: 27373109Free PMC Article

Recent clinical studies

Etiology

Future directions in managing aniridia-associated keratopathy.
van Velthoven AJH, Utheim TP, Notara M, Bremond-Gignac D, Figueiredo FC, Skottman H, Aberdam D, Daniels JT, Ferrari G, Grupcheva C, Koppen C, Parekh M, Ritter T, Romano V, Ferrari S, Cursiefen C, Lagali N, LaPointe VLS, Dickman MM
Surv Ophthalmol 2023 Sep-Oct;68(5):940-956. Epub 2023 May 4 doi: 10.1016/j.survophthal.2023.04.003. PMID: 37146692
Anterior segment dysgenesis: Insights into the genetics and pathogenesis.
Kaushik S, Dubey S, Choudhary S, Ratna R, Pandav SS, Khan AO
Indian J Ophthalmol 2022 Jul;70(7):2293-2303. doi: 10.4103/ijo.IJO_3223_21. PMID: 35791109Free PMC Article
A systematic approach to the management of microspherophakia.
Venkataraman P, Haripriya A, Mohan N, Rajendran A
Indian J Ophthalmol 2022 Jul;70(7):2262-2271. doi: 10.4103/ijo.IJO_2888_21. PMID: 35791105Free PMC Article
Axenfeld-Rieger syndrome.
Seifi M, Walter MA
Clin Genet 2018 Jun;93(6):1123-1130. Epub 2018 Jan 25 doi: 10.1111/cge.13148. PMID: 28972279
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457

Diagnosis

Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV
J Med Genet 2023 Apr;60(4):368-379. Epub 2022 Jul 26 doi: 10.1136/jmg-2022-108646. PMID: 35882526Free PMC Article
Anterior segment dysgenesis: Insights into the genetics and pathogenesis.
Kaushik S, Dubey S, Choudhary S, Ratna R, Pandav SS, Khan AO
Indian J Ophthalmol 2022 Jul;70(7):2293-2303. doi: 10.4103/ijo.IJO_3223_21. PMID: 35791109Free PMC Article
Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis.
Ma AS, Grigg JR, Jamieson RV
Hum Genet 2019 Sep;138(8-9):899-915. Epub 2018 Sep 21 doi: 10.1007/s00439-018-1935-7. PMID: 30242500
Axenfeld-Rieger syndrome.
Seifi M, Walter MA
Clin Genet 2018 Jun;93(6):1123-1130. Epub 2018 Jan 25 doi: 10.1111/cge.13148. PMID: 28972279
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457

Therapy

A systematic approach to the management of microspherophakia.
Venkataraman P, Haripriya A, Mohan N, Rajendran A
Indian J Ophthalmol 2022 Jul;70(7):2262-2271. doi: 10.4103/ijo.IJO_2888_21. PMID: 35791105Free PMC Article
Descemet membrane detachment.
Singhal D, Sahay P, Goel S, Asif MI, Maharana PK, Sharma N
Surv Ophthalmol 2020 May-Jun;65(3):279-293. Epub 2020 Jan 8 doi: 10.1016/j.survophthal.2019.12.006. PMID: 31923476
Lid wiper epitheliopathy.
Efron N, Brennan NA, Morgan PB, Wilson T
Prog Retin Eye Res 2016 Jul;53:140-174. Epub 2016 Apr 14 doi: 10.1016/j.preteyeres.2016.04.004. PMID: 27094372
Post-operative capsular opacification.
Raj SM, Vasavada AR, Kaid JS, Vasavada VA, Vasavada VA
Nepal J Ophthalmol 2009 Jan-Jun;1(1):43-59. doi: 10.3126/nepjoph.v1i1.3673. PMID: 21141021
Keratoglobus.
Cameron JA
Cornea 1993 Mar;12(2):124-30. doi: 10.1097/00003226-199303000-00006. PMID: 8500319

Prognosis

Biomarkers in the Occurrence and Development of Pterygium.
He S, Wu Z
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Peter's anomaly-A homeotic gene disorder.
Kylat RI
Acta Paediatr 2022 May;111(5):948-951. Epub 2022 Jan 31 doi: 10.1111/apa.16260. PMID: 35044009
Normal and abnormal foveal development.
Thomas MG, Papageorgiou E, Kuht HJ, Gottlob I
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The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457
Ocular coloboma.
Pagon RA
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Clinical prediction guides

Ocular Phenotype of Peters-Plus Syndrome.
Shah PR, Chauhan B, Chu CT, Kofler J, Nischal KK
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Normal and abnormal foveal development.
Thomas MG, Papageorgiou E, Kuht HJ, Gottlob I
Br J Ophthalmol 2022 May;106(5):593-599. Epub 2020 Nov 4 doi: 10.1136/bjophthalmol-2020-316348. PMID: 33148537
Ocular manifestations in classic homocystinuria.
Gus PI, Donis KC, Marinho D, Martins TF, de Souza CFM, Carloto RB, Leivas G, Schwartz IVD
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Childhood glaucoma genes and phenotypes: Focus on FOXC1 mutations causing anterior segment dysgenesis and hearing loss.
Gauthier AC, Wiggs JL
Exp Eye Res 2020 Jan;190:107893. Epub 2019 Dec 11 doi: 10.1016/j.exer.2019.107893. PMID: 31836490Free PMC Article
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457

Recent systematic reviews

Diagnosis and treatment of microspherophakia.
Yu X, Chen W, Xu W
J Cataract Refract Surg 2020 Dec;46(12):1674-1679. doi: 10.1097/j.jcrs.0000000000000334. PMID: 32694307
Tears and Eyewear in Forensic Investigation-A Review.
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PLATEAU IRIS--DIAGNOSIS AND TREATMENT.
Stefan C, Iliescu DA, Batras M, Timaru CM, De Simone A
Rom J Ophthalmol 2015 Jan-Mar;59(1):14-8. PMID: 27373109Free PMC Article
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Martins AC, Rosa AM, Costa E, Tavares C, Quadrado MJ, Murta JN
Biomed Res Int 2015;2015:282405. Epub 2015 Oct 19 doi: 10.1155/2015/282405. PMID: 26558262Free PMC Article
Chromosome abnormalities and the genetics of congenital corneal opacification.
Mataftsi A, Islam L, Kelberman D, Sowden JC, Nischal KK
Mol Vis 2011;17:1624-40. Epub 2011 Jun 17 PMID: 21738392Free PMC Article

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