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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.
Yu X, Chen W, Xu W
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

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
Sickle cell disease and the eye.
Do BK, Rodger DC
Curr Opin Ophthalmol 2017 Nov;28(6):623-628. doi: 10.1097/ICU.0000000000000423. PMID: 28984727
Anterior segment dysgenesis.
Stahl ED
Int Ophthalmol Clin 2014 Summer;54(3):95-104. doi: 10.1097/IIO.0000000000000031. PMID: 24879108
Keratoglobus.
Cameron JA
Cornea 1993 Mar;12(2):124-30. doi: 10.1097/00003226-199303000-00006. PMID: 8500319
Trisomy 22.
Zellweger H, Ionasescu V, Simpson J
J Genet Hum 1975 Mar;23(1):65-75. PMID: 1165480

Diagnosis

Peters Anomaly.
Zhang Z, Syed NA, Alward WLM
Ophthalmol Glaucoma 2019 Jul-Aug;2(4):266. doi: 10.1016/j.ogla.2019.03.005. PMID: 32672549
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
Sickle cell disease and the eye.
Do BK, Rodger DC
Curr Opin Ophthalmol 2017 Nov;28(6):623-628. doi: 10.1097/ICU.0000000000000423. PMID: 28984727
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
Congenital glaucoma.
Cibis GW
J Am Optom Assoc 1987 Sep;58(9):728-33. PMID: 3128592

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
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
Keratoglobus.
Cameron JA
Cornea 1993 Mar;12(2):124-30. doi: 10.1097/00003226-199303000-00006. PMID: 8500319
Glaucoma in children.
Chew E, Morin JD
Pediatr Clin North Am 1983 Dec;30(6):1043-60. doi: 10.1016/s0031-3955(16)34501-1. PMID: 6646864
Malignant glaucoma.
Simmons RJ
Br J Ophthalmol 1972 Mar;56(3):263-72. doi: 10.1136/bjo.56.3.263. PMID: 5032764Free PMC Article

Prognosis

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
Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management.
Paterick TE, Humphries JA, Ammar KA, Jan MF, Loberg R, Bush M, Khandheria BK, Tajik AJ
Am J Med 2013 Aug;126(8):670-8. Epub 2013 Jun 22 doi: 10.1016/j.amjmed.2013.01.029. PMID: 23800581
Fryns syndrome.
Jog SM, Patole SK, Whitehall JS
J Postgrad Med 2002 Apr-Jun;48(2):129-30. PMID: 12215698
Ocular coloboma.
Pagon RA
Surv Ophthalmol 1981 Jan-Feb;25(4):223-36. doi: 10.1016/0039-6257(81)90092-8. PMID: 6782689

Clinical prediction guides

Congenital eyelid imbrication syndrome in a Hispanic newborn: case report and review of the literature.
Ramos-Dávila EM, Ruiz-Lozano RE, Lam-Franco L, Ferran CG, Paez-Garza JH
J AAPOS 2023 Feb;27(1):49-52. Epub 2022 Nov 21 doi: 10.1016/j.jaapos.2022.09.010. PMID: 36410631
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
Fox's in development and disease.
Lehmann OJ, Sowden JC, Carlsson P, Jordan T, Bhattacharya SS
Trends Genet 2003 Jun;19(6):339-44. doi: 10.1016/S0168-9525(03)00111-2. PMID: 12801727
A common pathway for developmental glaucomas.
Shields MB
Trans Am Ophthalmol Soc 1987;85:222-37. PMID: 3328916Free PMC Article

Recent systematic reviews

The impact of dry eye disease on corneal nerve parameters: A systematic review and meta-analysis.
Chiang JCB, Tran V, Wolffsohn JS
Ophthalmic Physiol Opt 2023 Sep;43(5):1079-1091. Epub 2023 Jun 25 doi: 10.1111/opo.13186. PMID: 37357424
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
Clinical evaluation of corneal changes after phacoemulsification in diabetic and non-diabetic cataract patients, a systematic review and meta-analysis.
Tang Y, Chen X, Zhang X, Tang Q, Liu S, Yao K
Sci Rep 2017 Oct 26;7(1):14128. doi: 10.1038/s41598-017-14656-7. PMID: 29074989Free 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

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