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Abnormality of foveal pigmentation

MedGen UID:
892816
Concept ID:
C4072981
Finding
HPO: HP:0030493

Definition

An anomaly of the pigmentation in the fovea centralis. [from HPO]

Professional guidelines

PubMed

Aquaron R, Lasseaux E, Kelekele J, Bonello-Palot N, Badens C, Arveiler B, Tshilolo L
Eur J Med Genet 2022 Oct;65(10):104594. Epub 2022 Aug 12 doi: 10.1016/j.ejmg.2022.104594. PMID: 35964929
Ouyang Y, Heussen FM, Keane PA, Sadda SR, Walsh AC
Invest Ophthalmol Vis Sci 2013 Aug 21;54(8):5694-700. doi: 10.1167/iovs.13-12043. PMID: 23847317

Recent clinical studies

Etiology

Müller PL, Treis T, Alsaedi A, Webster AR, Khaw P, Michaelides M, Wickham L, Siriwardena D, Foster P, Moosajee M, Pavesio C, Tufail A, Egan C
Br J Ophthalmol 2022 Aug;106(8):1164-1170. Epub 2021 Jul 22 doi: 10.1136/bjophthalmol-2020-318717. PMID: 34301612
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
Dumitrescu AV, Pfeifer WL, Drack AV
J AAPOS 2021 Aug;25(4):220.e1-220.e8. Epub 2021 Jul 17 doi: 10.1016/j.jaapos.2021.03.015. PMID: 34280564
Wang FB
Strabismus 2020 Mar;28(1):17-19. Epub 2019 Sep 30 doi: 10.1080/09273972.2019.1668028. PMID: 31566469
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

Diagnosis

Müller PL, Treis T, Alsaedi A, Webster AR, Khaw P, Michaelides M, Wickham L, Siriwardena D, Foster P, Moosajee M, Pavesio C, Tufail A, Egan C
Br J Ophthalmol 2022 Aug;106(8):1164-1170. Epub 2021 Jul 22 doi: 10.1136/bjophthalmol-2020-318717. PMID: 34301612
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
Dumitrescu AV, Pfeifer WL, Drack AV
J AAPOS 2021 Aug;25(4):220.e1-220.e8. Epub 2021 Jul 17 doi: 10.1016/j.jaapos.2021.03.015. PMID: 34280564
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
Golchet PR, Jampol LM, Mathura JR Jr, Daily MJ
Br J Ophthalmol 2010 Mar;94(3):302-6. Epub 2009 Oct 12 doi: 10.1136/bjo.2009.162669. PMID: 19822914

Therapy

Kabataş N, Özateş S, Avarisli NA, Kakil SB, Özişler C
Cutan Ocul Toxicol 2021 Jun;40(2):115-118. Epub 2021 Apr 26 doi: 10.1080/15569527.2021.1907589. PMID: 33757380
Sharma S, Toth CA, Daniel E, Grunwald JE, Maguire MG, Ying GS, Huang J, Martin DF, Jaffe GJ; Comparison of Age-related Macular Degeneration Treatments Trials Research Group
Ophthalmology 2016 Apr;123(4):865-75. Epub 2016 Jan 9 doi: 10.1016/j.ophtha.2015.12.002. PMID: 26783095Free PMC Article
Cidad P, González E, Asencio M, García J
Korean J Ophthalmol 2015 Oct;29(5):331-5. Epub 2015 Sep 22 doi: 10.3341/kjo.2015.29.5.331. PMID: 26457039Free PMC Article
Cukras CA, Wong WT, Caruso R, Cunningham D, Zein W, Sieving PA
Arch Ophthalmol 2012 Feb;130(2):171-9. Epub 2011 Oct 10 doi: 10.1001/archophthalmol.2011.332. PMID: 21987580Free PMC Article
Zamir E, Kaiserman I, Chowers I
Am J Ophthalmol 1999 Jun;127(6):728-9. doi: 10.1016/s0002-9394(99)00017-3. PMID: 10372889

Prognosis

Daruich A, Duncan M, Robert MP, Lagali N, Semina EV, Aberdam D, Ferrari S, Romano V, des Roziers CB, Benkortebi R, De Vergnes N, Polak M, Chiambaretta F, Nischal KK, Behar-Cohen F, Valleix S, Bremond-Gignac D
Prog Retin Eye Res 2023 Jul;95:101133. Epub 2022 Oct 22 doi: 10.1016/j.preteyeres.2022.101133. PMID: 36280537
Müller PL, Treis T, Alsaedi A, Webster AR, Khaw P, Michaelides M, Wickham L, Siriwardena D, Foster P, Moosajee M, Pavesio C, Tufail A, Egan C
Br J Ophthalmol 2022 Aug;106(8):1164-1170. Epub 2021 Jul 22 doi: 10.1136/bjophthalmol-2020-318717. PMID: 34301612
Wang FB
Strabismus 2020 Mar;28(1):17-19. Epub 2019 Sep 30 doi: 10.1080/09273972.2019.1668028. PMID: 31566469
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
Golchet PR, Jampol LM, Mathura JR Jr, Daily MJ
Br J Ophthalmol 2010 Mar;94(3):302-6. Epub 2009 Oct 12 doi: 10.1136/bjo.2009.162669. PMID: 19822914

Clinical prediction guides

Saßmannshausen M, Behning C, Weinz J, Goerdt L, Terheyden JH, Chang P, Schmid M, Poor SH, Zakaria N, Finger RP, Holz FG, Pfau M, Schmitz-Valckenberg S, Thiele S; MACUSTAR Consortium Members
Ophthalmol Retina 2023 May;7(5):420-430. Epub 2022 Dec 20 doi: 10.1016/j.oret.2022.12.007. PMID: 36563964
Müller PL, Treis T, Alsaedi A, Webster AR, Khaw P, Michaelides M, Wickham L, Siriwardena D, Foster P, Moosajee M, Pavesio C, Tufail A, Egan C
Br J Ophthalmol 2022 Aug;106(8):1164-1170. Epub 2021 Jul 22 doi: 10.1136/bjophthalmol-2020-318717. PMID: 34301612
Ehrenberg M, Bagdonite-Bejarano L, Fulton AB, Orenstein N, Yahalom C
Ophthalmic Genet 2021 Jun;42(3):243-251. Epub 2021 Feb 17 doi: 10.1080/13816810.2021.1888128. PMID: 33594928
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
Golchet PR, Jampol LM, Mathura JR Jr, Daily MJ
Br J Ophthalmol 2010 Mar;94(3):302-6. Epub 2009 Oct 12 doi: 10.1136/bjo.2009.162669. PMID: 19822914

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