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Aplasia of the fovea

MedGen UID:
868913
Concept ID:
C4023324
Finding
Synonym: Absent fovea
 
HPO: HP:0011503

Definition

Congenital absence of the fovea. [from HPO]

Term Hierarchy

Professional guidelines

PubMed

Wood EH, Capone A Jr, Drenser KA, Berrocal A, Hubbard GB, Callaway NF, Kychenthal A, Ells A, Harper CA 3rd, Besirli CG, Baumal CR, Vavvas DG, Chang EY, Nudleman ED, Tsui I, Sears J, Vajzovic L, Hartnett ME, Shapiro MJ, Quiram PA, Ozdek S, Kusaka S, Wu WC, Trese MT
Ophthalmic Surg Lasers Imaging Retina 2022 Jan;53(1):3-6. Epub 2022 Jan 1 doi: 10.3928/23258160-20211214-01. PMID: 34981999
Jiang Y, Li S, Xiao X, Sun W, Zhang Q
Invest Ophthalmol Vis Sci 2021 Aug 2;62(10):23. doi: 10.1167/iovs.62.10.23. PMID: 34415986Free PMC Article
Lee H, Khan R, O'Keefe M
Acta Ophthalmol 2008 Nov;86(7):708-15. Epub 2008 Oct 6 doi: 10.1111/j.1755-3768.2008.01427.x. PMID: 18937825

Recent clinical studies

Etiology

Wagner SK, Romero-Bascones D, Cortina-Borja M, Williamson DJ, Struyven RR, Zhou Y, Patel S, Weil RS, Antoniades CA, Topol EJ, Korot E, Foster PJ, Balaskas K, Ayala U, Barrenechea M, Gabilondo I, Schapira AHV, Khawaja AP, Patel PJ, Rahi JS, Denniston AK, Petzold A, Keane PA; for UK Biobank Eye & Vision Consortium
Neurology 2023 Oct 17;101(16):e1581-e1593. Epub 2023 Aug 21 doi: 10.1212/WNL.0000000000207727. PMID: 37604659Free PMC Article
Lingam G, Sen AC, Lingam V, Bhende M, Padhi TR, Xinyi S
Eye (Lond) 2021 Aug;35(8):2086-2109. Epub 2021 Mar 21 doi: 10.1038/s41433-021-01501-5. PMID: 33746210Free PMC Article
Ferris FL 3rd, Wilkinson CP, Bird A, Chakravarthy U, Chew E, Csaky K, Sadda SR; Beckman Initiative for Macular Research Classification Committee
Ophthalmology 2013 Apr;120(4):844-51. Epub 2013 Jan 16 doi: 10.1016/j.ophtha.2012.10.036. PMID: 23332590Free PMC Article
Costa VP, Arcieri ES
Acta Ophthalmol Scand 2007 Sep;85(6):586-97. Epub 2007 Jun 2 doi: 10.1111/j.1600-0420.2007.00910.x. PMID: 17542978
Kinnear PE, Jay B, Witkop CJ Jr
Surv Ophthalmol 1985 Sep-Oct;30(2):75-101. doi: 10.1016/0039-6257(85)90077-3. PMID: 3934778

Diagnosis

Wagner SK, Romero-Bascones D, Cortina-Borja M, Williamson DJ, Struyven RR, Zhou Y, Patel S, Weil RS, Antoniades CA, Topol EJ, Korot E, Foster PJ, Balaskas K, Ayala U, Barrenechea M, Gabilondo I, Schapira AHV, Khawaja AP, Patel PJ, Rahi JS, Denniston AK, Petzold A, Keane PA; for UK Biobank Eye & Vision Consortium
Neurology 2023 Oct 17;101(16):e1581-e1593. Epub 2023 Aug 21 doi: 10.1212/WNL.0000000000207727. PMID: 37604659Free PMC Article
Ferris FL 3rd, Wilkinson CP, Bird A, Chakravarthy U, Chew E, Csaky K, Sadda SR; Beckman Initiative for Macular Research Classification Committee
Ophthalmology 2013 Apr;120(4):844-51. Epub 2013 Jan 16 doi: 10.1016/j.ophtha.2012.10.036. PMID: 23332590Free PMC Article
Costa VP, Arcieri ES
Acta Ophthalmol Scand 2007 Sep;85(6):586-97. Epub 2007 Jun 2 doi: 10.1111/j.1600-0420.2007.00910.x. PMID: 17542978
Pian D, Ferrucci S, Anderson SF, Wu C
Optom Vis Sci 2003 Aug;80(8):556-63. doi: 10.1097/00006324-200308000-00008. PMID: 12917574
Kinnear PE, Jay B, Witkop CJ Jr
Surv Ophthalmol 1985 Sep-Oct;30(2):75-101. doi: 10.1016/0039-6257(85)90077-3. PMID: 3934778

Therapy

Flores DV, Foster RCB, Sampaio ML, Rakhra KS
Radiographics 2024 Feb;44(2):e230144. doi: 10.1148/rg.230144. PMID: 38300815
Francis JH, Canestraro J, Haggag-Lindgren D, Harding JJ, Diamond EL, Drilon A, Li BT, Iyer G, Schram AM, Abramson DH
Ophthalmol Retina 2021 Dec;5(12):1187-1195. Epub 2021 Jun 5 doi: 10.1016/j.oret.2021.06.001. PMID: 34102344Free PMC Article
Castro Farías D, Matsui Serrano R, Bianchi Gancharov J, de Dios Cuadras U, Sahel J, Graue Wiechers F, Dupas B, Paques M
Br J Ophthalmol 2020 Apr;104(4):509-513. Epub 2019 Jul 29 doi: 10.1136/bjophthalmol-2019-314355. PMID: 31358497
Reznicek L, Bolz M, Garip A, Kampik A, Kernt M, Mayer WJ
Curr Eye Res 2016 Aug;41(8):1082-1086. Epub 2015 Nov 18 doi: 10.3109/02713683.2015.1084641. PMID: 26580417
Lombardo M, Scarinci F, Giannini D, Pileri M, Ripandelli G, Stirpe M, Lombardo G, Serrao S
Retina 2016 Jan;36(1):171-80. doi: 10.1097/IAE.0000000000000679. PMID: 26110598

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
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
Sharma D, Murki S, Pratap T, Vasikarla M
BMJ Case Rep 2014 May 19;2014 doi: 10.1136/bcr-2014-203923. PMID: 24842361Free PMC Article
Ferris FL 3rd, Wilkinson CP, Bird A, Chakravarthy U, Chew E, Csaky K, Sadda SR; Beckman Initiative for Macular Research Classification Committee
Ophthalmology 2013 Apr;120(4):844-51. Epub 2013 Jan 16 doi: 10.1016/j.ophtha.2012.10.036. PMID: 23332590Free PMC Article
Costa VP, Arcieri ES
Acta Ophthalmol Scand 2007 Sep;85(6):586-97. Epub 2007 Jun 2 doi: 10.1111/j.1600-0420.2007.00910.x. PMID: 17542978

Clinical prediction guides

Horie S, Corradetti G, Esmaeilkhanian H, Sadda SR, Cheung CMG, Ham Y, Chang A, Takahashi T, Ohno-Matsui K
Asia Pac J Ophthalmol (Phila) 2023 Mar-Apr 01;12(2):211-227. Epub 2023 Mar 24 doi: 10.1097/APO.0000000000000597. PMID: 36971707
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
Ferris FL 3rd, Wilkinson CP, Bird A, Chakravarthy U, Chew E, Csaky K, Sadda SR; Beckman Initiative for Macular Research Classification Committee
Ophthalmology 2013 Apr;120(4):844-51. Epub 2013 Jan 16 doi: 10.1016/j.ophtha.2012.10.036. PMID: 23332590Free PMC Article
Pian D, Ferrucci S, Anderson SF, Wu C
Optom Vis Sci 2003 Aug;80(8):556-63. doi: 10.1097/00006324-200308000-00008. PMID: 12917574

Recent systematic reviews

Zhang Z, Yu M, Wang F, Dai Y, Wu Z
J Glaucoma 2016 May;25(5):e446-54. doi: 10.1097/IJG.0000000000000275. PMID: 25943737

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