Etiology
Oh JK,
Vargas Del Valle JG,
Lima de Carvalho JR Jr,
Sun YJ,
Levi SR,
Ryu J,
Yang J,
Nagasaki T,
Emanuelli A,
Rasool N,
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Duncan JL,
Mahajan VB,
Tsang SH
Orphanet J Rare Dis
2022 Apr 1;17(1):146.
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Antonio A,
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Zeitz C,
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Loundon N,
Marlin S,
Petit C,
Bodaghi B,
Sahel JA,
Audo I
Retina
2020 Aug;40(8):1603-1615.
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Tsang SH,
Aycinena ARP,
Sharma T
Adv Exp Med Biol
2018;1085:167-170.
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Malm E,
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Eur J Ophthalmol
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Marshall JD,
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Maffei P,
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Eur J Hum Genet
2007 Dec;15(12):1193-202.
Epub 2007 Oct 17
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PMID: 17940554
Diagnosis
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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Bahena P,
Daftarian N,
Maroofian R,
Linares P,
Villalobos D,
Mirrahimi M,
Rad A,
Doll J,
Hofrichter MAH,
Koparir A,
Röder T,
Han S,
Sabbaghi H,
Ahmadieh H,
Behboudi H,
Villanueva-Mendoza C,
Cortés-Gonzalez V,
Zamora-Ortiz R,
Kohl S,
Kuehlewein L,
Darvish H,
Alehabib E,
Arenas-Sordo ML,
Suri F,
Vona B,
Haaf T
Hum Genet
2022 Apr;141(3-4):785-803.
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Khateb S,
Mohand-Saïd S,
Nassisi M,
Bonnet C,
Roux AF,
Andrieu C,
Antonio A,
Condroyer C,
Zeitz C,
Devisme C,
Loundon N,
Marlin S,
Petit C,
Bodaghi B,
Sahel JA,
Audo I
Retina
2020 Aug;40(8):1603-1615.
doi: 10.1097/IAE.0000000000002636.
PMID: 31479088
Tsang SH,
Aycinena ARP,
Sharma T
Adv Exp Med Biol
2018;1085:179-180.
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PMID: 30578508
Marshall JD,
Beck S,
Maffei P,
Naggert JK
Eur J Hum Genet
2007 Dec;15(12):1193-202.
Epub 2007 Oct 17
doi: 10.1038/sj.ejhg.5201933.
PMID: 17940554
Therapy
Wu S,
Yuan Z,
Sun Z,
Yao F,
Sui R
Am J Med Genet A
2022 Mar;188(3):948-952.
Epub 2021 Nov 25
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PMID: 34821467
Larrañaga-Fragoso P,
Pastora N,
Bravo-Ljubetic L,
Peralta J,
Abelairas-Gómez J
Ophthalmic Genet
2016 Dec;37(4):427-429.
Epub 2016 Feb 19
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PMID: 26894450
Srikrupa NN,
Meenakshi S,
Arokiasamy T,
Murali K,
Soumittra N
Ophthalmic Genet
2014 Jun;35(2):119-24.
Epub 2013 May 2
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PMID: 23638917
Ferrucci S,
Anderson SF,
Townsend JC
Optom Vis Sci
1998 Aug;75(8):560-70.
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PMID: 9734800
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
doi: 10.1016/j.xhgg.2023.100229.
PMID: 37654703Free PMC Article
Bahena P,
Daftarian N,
Maroofian R,
Linares P,
Villalobos D,
Mirrahimi M,
Rad A,
Doll J,
Hofrichter MAH,
Koparir A,
Röder T,
Han S,
Sabbaghi H,
Ahmadieh H,
Behboudi H,
Villanueva-Mendoza C,
Cortés-Gonzalez V,
Zamora-Ortiz R,
Kohl S,
Kuehlewein L,
Darvish H,
Alehabib E,
Arenas-Sordo ML,
Suri F,
Vona B,
Haaf T
Hum Genet
2022 Apr;141(3-4):785-803.
Epub 2021 Jun 20
doi: 10.1007/s00439-021-02303-1.
PMID: 34148116Free PMC Article
Khateb S,
Mohand-Saïd S,
Nassisi M,
Bonnet C,
Roux AF,
Andrieu C,
Antonio A,
Condroyer C,
Zeitz C,
Devisme C,
Loundon N,
Marlin S,
Petit C,
Bodaghi B,
Sahel JA,
Audo I
Retina
2020 Aug;40(8):1603-1615.
doi: 10.1097/IAE.0000000000002636.
PMID: 31479088
Malm E,
Ponjavic V,
Möller C,
Kimberling WJ,
Stone ES,
Andréasson S
Eur J Ophthalmol
2011 Jan-Feb;21(1):30-8.
doi: 10.5301/ejo.2010.5433.
PMID: 20544672
Marshall JD,
Beck S,
Maffei P,
Naggert JK
Eur J Hum Genet
2007 Dec;15(12):1193-202.
Epub 2007 Oct 17
doi: 10.1038/sj.ejhg.5201933.
PMID: 17940554
Clinical prediction guides
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
Murch O,
Jain V,
Benneche A,
Metcalfe K,
Hobson E,
Prescott K,
Chandler K,
Ghali N,
Carmichael J,
Foulds NC,
Paulsen J,
Smeland MF,
Berland S,
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Eur J Hum Genet
2022 Jan;30(1):95-100.
Epub 2021 Oct 14
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PMID: 34645992Free PMC Article
Jurkute N,
Shanmugarajah PD,
Hadjivassiliou M,
Higgs J,
Vojcic M,
Horrocks I,
Nadjar Y,
Touitou V,
Lenaers G,
Poh R,
Acheson J,
Robson AG,
Raymond FL,
Reilly MM,
Yu-Wai-Man P,
Moore AT,
Webster AR,
Arno G;
Genomics England Research Consortium
Invest Ophthalmol Vis Sci
2021 May 3;62(6):2.
doi: 10.1167/iovs.62.6.2.
PMID: 33938912Free PMC Article
Roberts L,
Julius S,
Dawlat S,
Yildiz S,
Rebello G,
Meldau S,
Pillay K,
Esterhuizen A,
Vorster A,
Benefeld G,
da Rocha J,
Beighton P,
Sellars SL,
Thandrayen K,
Pettifor JM,
Ramesar RS
Hum Mutat
2020 Nov;41(11):1871-1876.
Epub 2020 Sep 9
doi: 10.1002/humu.24094.
PMID: 32827185
Khateb S,
Mohand-Saïd S,
Nassisi M,
Bonnet C,
Roux AF,
Andrieu C,
Antonio A,
Condroyer C,
Zeitz C,
Devisme C,
Loundon N,
Marlin S,
Petit C,
Bodaghi B,
Sahel JA,
Audo I
Retina
2020 Aug;40(8):1603-1615.
doi: 10.1097/IAE.0000000000002636.
PMID: 31479088