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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 humour [from HPO]

Term Hierarchy

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

Professional guidelines

PubMed

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
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
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

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
Injection of Cultured Cells with a ROCK Inhibitor for Bullous Keratopathy.
Kinoshita S, Koizumi N, Ueno M, Okumura N, Imai K, Tanaka H, Yamamoto Y, Nakamura T, Inatomi T, Bush J, Toda M, Hagiya M, Yokota I, Teramukai S, Sotozono C, Hamuro J
N Engl J Med 2018 Mar 15;378(11):995-1003. doi: 10.1056/NEJMoa1712770. PMID: 29539291
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
Keratoglobus.
Cameron JA
Cornea 1993 Mar;12(2):124-30. doi: 10.1097/00003226-199303000-00006. PMID: 8500319

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
Pigment dispersion syndrome and pigmentary glaucoma: a review and update.
Scuderi G, Contestabile MT, Scuderi L, Librando A, Fenicia V, Rahimi S
Int Ophthalmol 2019 Jul;39(7):1651-1662. Epub 2018 May 2 doi: 10.1007/s10792-018-0938-7. PMID: 29721842
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

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
Therapeutic efficacy of intense pulsed light in patients with refractory meibomian gland dysfunction.
Arita R, Fukuoka S, Morishige N
Ocul Surf 2019 Jan;17(1):104-110. Epub 2018 Nov 13 doi: 10.1016/j.jtos.2018.11.004. PMID: 30445177
Injection of Cultured Cells with a ROCK Inhibitor for Bullous Keratopathy.
Kinoshita S, Koizumi N, Ueno M, Okumura N, Imai K, Tanaka H, Yamamoto Y, Nakamura T, Inatomi T, Bush J, Toda M, Hagiya M, Yokota I, Teramukai S, Sotozono C, Hamuro J
N Engl J Med 2018 Mar 15;378(11):995-1003. doi: 10.1056/NEJMoa1712770. PMID: 29539291
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

Prognosis

Biomarkers in the Occurrence and Development of Pterygium.
He S, Wu Z
Ophthalmic Res 2022;65(5):481-492. Epub 2022 Apr 11 doi: 10.1159/000523878. PMID: 35405677
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
Therapeutic efficacy of intense pulsed light in patients with refractory meibomian gland dysfunction.
Arita R, Fukuoka S, Morishige N
Ocul Surf 2019 Jan;17(1):104-110. Epub 2018 Nov 13 doi: 10.1016/j.jtos.2018.11.004. PMID: 30445177
Pigment dispersion syndrome and pigmentary glaucoma: a review and update.
Scuderi G, Contestabile MT, Scuderi L, Librando A, Fenicia V, Rahimi S
Int Ophthalmol 2019 Jul;39(7):1651-1662. Epub 2018 May 2 doi: 10.1007/s10792-018-0938-7. PMID: 29721842
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

Clinical prediction guides

Ocular Phenotype of Peters-Plus Syndrome.
Shah PR, Chauhan B, Chu CT, Kofler J, Nischal KK
Cornea 2022 Feb 1;41(2):219-223. doi: 10.1097/ICO.0000000000002889. PMID: 34629439
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
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
Crystalline coloboma.
Demetrio R, Ruiz-Sancho D, Rolón N, del Campo A, Blanco C
Arch Soc Esp Oftalmol 2015 Mar;90(3):142-3. Epub 2014 Nov 15 doi: 10.1016/j.oftal.2014.02.012. PMID: 25443185

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.
Aparna R, Shanti Iyer R
Forensic Sci Int 2020 Jan;306:110055. Epub 2019 Nov 15 doi: 10.1016/j.forsciint.2019.110055. PMID: 31785512
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
Ocular Manifestations and Therapeutic Options in Patients with Familial Amyloid Polyneuropathy: A Systematic Review.
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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