Etiology
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
Ferri P,
Abeshi A,
Bertelli M,
Rossetti L
Invest Ophthalmol Vis Sci
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Gao FJ,
Wang DD,
Chen F,
Sun HX,
Hu FY,
Xu P,
Li J,
Liu W,
Qi YH,
Li W,
Wang M,
Zhang S,
Xu GZ,
Chang Q,
Wu JH
Br J Ophthalmol
2021 Jan;105(1):87-92.
Epub 2020 Mar 18
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PMID: 32188678Free PMC Article
Gao FJ,
Li JK,
Chen H,
Hu FY,
Zhang SH,
Qi YH,
Xu P,
Wang DD,
Wang LS,
Chang Q,
Zhang YJ,
Liu W,
Li W,
Wang M,
Chen F,
Xu GZ,
Wu JH
Ophthalmology
2019 Nov;126(11):1549-1556.
Epub 2019 May 1
doi: 10.1016/j.ophtha.2019.04.038.
PMID: 31054281
Verbakel SK,
van Huet RAC,
Boon CJF,
den Hollander AI,
Collin RWJ,
Klaver CCW,
Hoyng CB,
Roepman R,
Klevering BJ
Prog Retin Eye Res
2018 Sep;66:157-186.
Epub 2018 Mar 27
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Forsythe E,
Beales PL
Eur J Hum Genet
2013 Jan;21(1):8-13.
Epub 2012 Jun 20
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PMID: 22713813Free PMC Article
Diagnosis
Gao FJ,
Li JK,
Chen H,
Hu FY,
Zhang SH,
Qi YH,
Xu P,
Wang DD,
Wang LS,
Chang Q,
Zhang YJ,
Liu W,
Li W,
Wang M,
Chen F,
Xu GZ,
Wu JH
Ophthalmology
2019 Nov;126(11):1549-1556.
Epub 2019 May 1
doi: 10.1016/j.ophtha.2019.04.038.
PMID: 31054281
Verbakel SK,
van Huet RAC,
Boon CJF,
den Hollander AI,
Collin RWJ,
Klaver CCW,
Hoyng CB,
Roepman R,
Klevering BJ
Prog Retin Eye Res
2018 Sep;66:157-186.
Epub 2018 Mar 27
doi: 10.1016/j.preteyeres.2018.03.005.
PMID: 29597005
Daiger SP,
Sullivan LS,
Bowne SJ
Clin Genet
2013 Aug;84(2):132-41.
Epub 2013 Jun 19
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Forsythe E,
Beales PL
Eur J Hum Genet
2013 Jan;21(1):8-13.
Epub 2012 Jun 20
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Hamel C
Orphanet J Rare Dis
2006 Oct 11;1:40.
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Therapy
Sobh M,
Lagali PS,
Ghiasi M,
Montroy J,
Dollin M,
Hurley B,
Leonard BC,
Dimopoulos I,
Lafreniere M,
Fergusson DA,
Lalu MM,
Tsilfidis C
Transl Vis Sci Technol
2023 Nov 1;12(11):24.
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PMID: 37982768Free PMC Article
Hufnagel RB,
Liang W,
Duncan JL,
Brewer CC,
Audo I,
Ayala AR,
Branham K,
Cheetham JK,
Daiger SP,
Durham TA,
Guan B,
Heon E,
Hoyng CB,
Iannaccone A,
Kay CN,
Michaelides M,
Pennesi ME,
Singh MS,
Ullah E;
Foundation Fighting Blindness Consortium Investigator Group
Hum Mutat
2022 May;43(5):613-624.
Epub 2022 Mar 21
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PMID: 35266249Free PMC Article
Nair AA,
Marmor MF
Doc Ophthalmol
2017 Jun;134(3):175-183.
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doi: 10.1007/s10633-017-9588-8.
PMID: 28451987
Jabłońska A,
Ciszewska J,
Kęcik D
Klin Oczna
2014;116(4):272-6.
PMID: 25906639
Rahbeeni Z,
Ozand PT,
Rashed M,
Gascon GG,
al Nasser M,
al Odaib A,
Amoudi M,
Nester M,
al Garawi S,
Brismar J
Brain Dev
1994 Nov;16 Suppl:64-71.
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PMID: 7726383
Prognosis
Sanjurjo-Soriano C,
Jimenez-Medina C,
Erkilic N,
Cappellino L,
Lefevre A,
Nagel-Wolfrum K,
Wolfrum U,
Van Wijk E,
Roux AF,
Meunier I,
Kalatzis V
HGG Adv
2023 Oct 12;4(4):100229.
Epub 2023 Aug 7
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PMID: 37654703Free PMC Article
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
Ferri P,
Abeshi A,
Bertelli M,
Rossetti L
Invest Ophthalmol Vis Sci
2021 Feb 1;62(2):13.
doi: 10.1167/iovs.62.2.13.
PMID: 33576794Free PMC Article
Gao FJ,
Wang DD,
Chen F,
Sun HX,
Hu FY,
Xu P,
Li J,
Liu W,
Qi YH,
Li W,
Wang M,
Zhang S,
Xu GZ,
Chang Q,
Wu JH
Br J Ophthalmol
2021 Jan;105(1):87-92.
Epub 2020 Mar 18
doi: 10.1136/bjophthalmol-2020-315878.
PMID: 32188678Free PMC Article
Tsang SH,
Sharma T
Adv Exp Med Biol
2018;1085:131-137.
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PMID: 30578499
Hamel C
Orphanet J Rare Dis
2006 Oct 11;1:40.
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PMID: 17032466Free PMC Article
Clinical prediction guides
Heon E,
Melia M,
Bocchino LE,
Samarakoon L,
Duncan JL,
Ayala AR,
Audo I,
Bradley C,
Cheetham JK,
Dagnelie G,
Durham TA,
Hoyng CB,
Jain N,
Jayasundera KT,
Pennesi ME,
Weng CY;
Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol
2024 Apr;260:200-211.
Epub 2023 Dec 21
doi: 10.1016/j.ajo.2023.12.009.
PMID: 38135239
Sanjurjo-Soriano C,
Jimenez-Medina C,
Erkilic N,
Cappellino L,
Lefevre A,
Nagel-Wolfrum K,
Wolfrum U,
Van Wijk E,
Roux AF,
Meunier I,
Kalatzis V
HGG Adv
2023 Oct 12;4(4):100229.
Epub 2023 Aug 7
doi: 10.1016/j.xhgg.2023.100229.
PMID: 37654703Free PMC Article
Ma J,
Ma X,
Lin K,
Huang R,
Bi X,
Ming C,
Li L,
Li X,
Li G,
Zhao L,
Yang T,
Gao Y,
Zhang T
Hum Genomics
2023 Jan 4;17(1):1.
doi: 10.1186/s40246-022-00449-1.
PMID: 36597107Free PMC Article
Yang XR,
Benson MD,
MacDonald IM,
Innes AM
Am J Med Genet C Semin Med Genet
2020 Sep;184(3):538-570.
Epub 2020 Sep 11
doi: 10.1002/ajmg.c.31834.
PMID: 32918368
Forsythe E,
Beales PL
Eur J Hum Genet
2013 Jan;21(1):8-13.
Epub 2012 Jun 20
doi: 10.1038/ejhg.2012.115.
PMID: 22713813Free PMC Article