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Aniridia, atypical

MedGen UID:
865503
Concept ID:
C4017066
Finding
Synonym: ANIRIDIA, ATYPICAL
 
OMIM®: 607108

Professional guidelines

PubMed

Daruich A, Robert MP, Leroy C, DE Vergnes N, Beugnet C, Malan V, Valleix S, Bremond-Gignac D
Am J Ophthalmol 2022 May;237:122-129. Epub 2021 Dec 20 doi: 10.1016/j.ajo.2021.12.007. PMID: 34942114

Recent clinical studies

Etiology

Jiang Y, Yi Z, Zheng Y, Ouyang J, Guo D, Li S, Xiao X, Wang P, Sun W, Zhang Q
Invest Ophthalmol Vis Sci 2024 Aug 1;65(10):46. doi: 10.1167/iovs.65.10.46. PMID: 39212610Free PMC Article
Fries FN, Náray A, Munteanu C, Stachon T, Lagali N, Seitz B, Szentmáry N, Käsmann-Kellner B
Klin Monbl Augenheilkd 2024 Mar;241(3):275-282. Epub 2023 Aug 30 doi: 10.1055/a-2065-8405. PMID: 37647922Free PMC Article
Daruich A, Robert MP, Leroy C, DE Vergnes N, Beugnet C, Malan V, Valleix S, Bremond-Gignac D
Am J Ophthalmol 2022 May;237:122-129. Epub 2021 Dec 20 doi: 10.1016/j.ajo.2021.12.007. PMID: 34942114
You B, Zhang X, Xu K, Xie Y, Ye H, Li Y
Mol Vis 2020;26:226-234. Epub 2020 Mar 26 PMID: 32214788Free PMC Article
Rao A, Padhy D, Sarangi S, Das G
Semin Ophthalmol 2018;33(3):300-307. Epub 2016 Dec 8 doi: 10.1080/08820538.2016.1208767. PMID: 27929720

Diagnosis

Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG
Ophthalmology 2022 Jun;129(6):708-718. Epub 2022 Feb 11 doi: 10.1016/j.ophtha.2022.02.010. PMID: 35157951Free PMC Article
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
Blanco-Kelly F, Tarilonte M, Villamar M, Damián A, Tamayo A, Moreno-Pelayo MA, Ayuso C, Cortón M
Arch Soc Esp Oftalmol (Engl Ed) 2021 Nov;96 Suppl 1:4-14. Epub 2021 Oct 22 doi: 10.1016/j.oftale.2021.02.002. PMID: 34836588
Brinckmann A, Rüther K, Williamson K, Lorenz B, Lucke B, Nürnberg P, Trijbels F, Janssen A, Schuelke M
J Mol Med (Berl) 2007 Feb;85(2):163-8. Epub 2006 Oct 10 doi: 10.1007/s00109-006-0112-y. PMID: 17031679
Delleman JW, Winkelman JE
Klin Monbl Augenheilkd 1973 Nov;163(5):528-42. PMID: 4782857

Prognosis

Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG
Ophthalmology 2022 Jun;129(6):708-718. Epub 2022 Feb 11 doi: 10.1016/j.ophtha.2022.02.010. PMID: 35157951Free PMC Article
Daruich A, Robert MP, Leroy C, DE Vergnes N, Beugnet C, Malan V, Valleix S, Bremond-Gignac D
Am J Ophthalmol 2022 May;237:122-129. Epub 2021 Dec 20 doi: 10.1016/j.ajo.2021.12.007. PMID: 34942114
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
Brinckmann A, Rüther K, Williamson K, Lorenz B, Lucke B, Nürnberg P, Trijbels F, Janssen A, Schuelke M
J Mol Med (Berl) 2007 Feb;85(2):163-8. Epub 2006 Oct 10 doi: 10.1007/s00109-006-0112-y. PMID: 17031679
Delleman JW, Winkelman JE
Klin Monbl Augenheilkd 1973 Nov;163(5):528-42. PMID: 4782857

Clinical prediction guides

Boehm BO, Kratzer W, Bansal V
Eur J Hum Genet 2023 Jan;31(1):89-96. Epub 2022 Oct 7 doi: 10.1038/s41431-022-01182-y. PMID: 36202929Free PMC Article
Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG
Ophthalmology 2022 Jun;129(6):708-718. Epub 2022 Feb 11 doi: 10.1016/j.ophtha.2022.02.010. PMID: 35157951Free PMC Article
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
Lee H, Sheth V, Bibi M, Maconachie G, Patel A, McLean RJ, Michaelides M, Thomas MG, Proudlock FA, Gottlob I
Ophthalmology 2013 Dec;120(12):2714-2724. Epub 2013 Oct 22 doi: 10.1016/j.ophtha.2013.07.018. PMID: 24161406
Brinckmann A, Rüther K, Williamson K, Lorenz B, Lucke B, Nürnberg P, Trijbels F, Janssen A, Schuelke M
J Mol Med (Berl) 2007 Feb;85(2):163-8. Epub 2006 Oct 10 doi: 10.1007/s00109-006-0112-y. PMID: 17031679

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