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Abnormality iris morphology

MedGen UID:
871351
•Concept ID:
C4025845
•
Anatomical Abnormality
Synonym: Iris abnormalities
 
HPO: HP:0000525

Definition

An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. [from HPO]

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 Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.
Lima Cunha D, Arno G, Corton M, Moosajee M
Genes (Basel) 2019 Dec 17;10(12) doi: 10.3390/genes10121050. PMID: 31861090Free 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
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
Vascular abnormalities in uveitis.
Ebrahimiadib N, Maleki A, Fadakar K, Manhapra A, Ghassemi F, Foster CS
Surv Ophthalmol 2021 Jul-Aug;66(4):653-667. Epub 2021 Jan 5 doi: 10.1016/j.survophthal.2020.12.006. PMID: 33412171
The Arrhinias.
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938
Exfoliation syndrome.
Ritch R, Schlötzer-Schrehardt U
Surv Ophthalmol 2001 Jan-Feb;45(4):265-315. doi: 10.1016/s0039-6257(00)00196-x. PMID: 11166342

Diagnosis

Congenital Microcoria.
Jeeva-Patel T, Lutchman C, Margolin E
Ophthalmology 2021 Apr;128(4):586. doi: 10.1016/j.ophtha.2020.11.006. PMID: 33745527
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 Pupil.
Bouffard MA
Continuum (Minneap Minn) 2019 Oct;25(5):1194-1214. doi: 10.1212/CON.0000000000000771. PMID: 31584534
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
The Arrhinias.
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938

Therapy

When the savior becomes a demon: Silicon oil synechia-induced glaucoma.
Agarwal A, Narang P, Narang R
Indian J Ophthalmol 2022 Oct;70(10):3745-3746. doi: 10.4103/ijo.IJO_1630_22. PMID: 36190103Free 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
Iris alterations after DSAEK.
Del Hierro Zarzuelo A, Boto de Los Bueis A
Arch Soc Esp Oftalmol 2016 Sep;91(9):422-5. Epub 2016 Mar 17 doi: 10.1016/j.oftal.2016.02.005. PMID: 26996049
Drug-induced ocular disorders.
Li J, Tripathi RC, Tripathi BJ
Drug Saf 2008;31(2):127-41. doi: 10.2165/00002018-200831020-00003. PMID: 18217789
Current concepts in pigmentary glaucoma.
Farrar SM, Shields MB
Surv Ophthalmol 1993 Jan-Feb;37(4):233-52. doi: 10.1016/0039-6257(93)90008-u. PMID: 8095105

Prognosis

The Phenotypic Spectrum of Albinism.
Kruijt CC, de Wit GC, Bergen AA, Florijn RJ, Schalij-Delfos NE, van Genderen MM
Ophthalmology 2018 Dec;125(12):1953-1960. Epub 2018 Aug 8 doi: 10.1016/j.ophtha.2018.08.003. PMID: 30098354
Shah-Waardenburg syndrome.
Mahmoudi A, Rami M, Khattala K, Elmadi A, Afifi MA, Youssef B
Pan Afr Med J 2013;14:60. Epub 2013 Feb 12 doi: 10.11604/pamj.2013.14.60.1543. PMID: 23565307Free PMC Article
The Arrhinias.
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938
Exfoliation syndrome.
Ritch R, Schlötzer-Schrehardt U
Surv Ophthalmol 2001 Jan-Feb;45(4):265-315. doi: 10.1016/s0039-6257(00)00196-x. PMID: 11166342
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

Primary congenital glaucoma: An iridotrabeculodysgenesis?
Sihota R, Mahalingam K, Maurya AK, Sharma A, Bukke AN, Dada T
Indian J Ophthalmol 2024 Mar 1;72(3):328-334. Epub 2023 Dec 15 doi: 10.4103/IJO.IJO_370_23. PMID: 38099353Free PMC Article
Correlation of clinical and radiological predictors of retinoblastoma with high-risk histopathological features.
Yaqoob N, Zia N, Hamid A, Kaleem B, Jamal S, Amin S, Qaddoumi I, Jamal S
Pediatr Blood Cancer 2022 May;69(5):e29625. Epub 2022 Mar 6 doi: 10.1002/pbc.29625. PMID: 35253344
The Phenotypic Spectrum of Albinism.
Kruijt CC, de Wit GC, Bergen AA, Florijn RJ, Schalij-Delfos NE, van Genderen MM
Ophthalmology 2018 Dec;125(12):1953-1960. Epub 2018 Aug 8 doi: 10.1016/j.ophtha.2018.08.003. PMID: 30098354
Iris alterations after DSAEK.
Del Hierro Zarzuelo A, Boto de Los Bueis A
Arch Soc Esp Oftalmol 2016 Sep;91(9):422-5. Epub 2016 Mar 17 doi: 10.1016/j.oftal.2016.02.005. PMID: 26996049
Uveitis masquerade syndromes.
Rothova A, Ooijman F, Kerkhoff F, Van Der Lelij A, Lokhorst HM
Ophthalmology 2001 Feb;108(2):386-99. doi: 10.1016/s0161-6420(00)00499-1. PMID: 11158819

Recent systematic reviews

Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships.
Chen ZX, Jia WN, Sun Y, Chen TH, Zhao ZN, Lan LN, Liu Y, Song LH, Jiang YX
Hum Mutat 2022 Dec;43(12):2141-2152. Epub 2022 Oct 17 doi: 10.1002/humu.24483. PMID: 36208099
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
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
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

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