Etiology
Krašovec T,
Kobal N,
Šuštar Habjan M,
Volk M,
Hawlina M,
Fakin A
Int J Mol Sci
2023 Jan 2;24(1)
doi: 10.3390/ijms24010780.
PMID: 36614223Free PMC Article
Chen RW,
Greenberg JP,
Lazow MA,
Ramachandran R,
Lima LH,
Hwang JC,
Schubert C,
Braunstein A,
Allikmets R,
Tsang SH
Am J Ophthalmol
2012 Jan;153(1):143-54.e2.
Epub 2011 Sep 13
doi: 10.1016/j.ajo.2011.06.018.
PMID: 21920492Free PMC Article
Ung T,
Allen LE,
Moore AT,
Trump D,
Zito I,
Hardcastle AJ,
Yates J,
Bradshaw K
Doc Ophthalmol
2005 Nov;111(3):169-78.
Epub 2006 Mar 6
doi: 10.1007/s10633-005-5503-9.
PMID: 16523234
Cashman SM,
Binkley EA,
Kumar-Singh R
Gene Ther
2005 Aug;12(15):1223-8.
doi: 10.1038/sj.gt.3302512.
PMID: 15877050
Pietrobon D
Mol Neurobiol
2002 Feb;25(1):31-50.
doi: 10.1385/MN:25:1:031.
PMID: 11890456
Diagnosis
Stingl K,
Priglinger C,
Herrmann P
Klin Monbl Augenheilkd
2024 Mar;241(3):259-265.
Epub 2024 Mar 20
doi: 10.1055/a-2227-3671.
PMID: 38508214
Kim AH,
Liu PK,
Chang YH,
Kang EY,
Wang HH,
Chen N,
Tseng YJ,
Seo GH,
Lee H,
Liu L,
Chao AN,
Chen KJ,
Hwang YS,
Wu WC,
Lai CC,
Tsang SH,
Hsiao MC,
Wang NK
Int J Mol Sci
2022 Nov 29;23(23)
doi: 10.3390/ijms232314965.
PMID: 36499293Free PMC Article
De Silva SR,
Arno G,
Robson AG,
Fakin A,
Pontikos N,
Mohamed MD,
Bird AC,
Moore AT,
Michaelides M,
Webster AR,
Mahroo OA
Prog Retin Eye Res
2021 May;82:100898.
Epub 2020 Aug 26
doi: 10.1016/j.preteyeres.2020.100898.
PMID: 32860923
Peshenko IV,
Olshevskaya EV,
Dizhoor AM
J Biol Chem
2020 Dec 25;295(52):18301-18315.
Epub 2020 Oct 27
doi: 10.1074/jbc.RA120.015553.
PMID: 33109612Free PMC Article
Haim M
Acta Ophthalmol (Copenh)
1986 Apr;64(2):192-8.
doi: 10.1111/j.1755-3768.1986.tb06899.x.
PMID: 3487908
Therapy
Athanasiou D,
Aguila M,
Bellingham J,
Li W,
McCulley C,
Reeves PJ,
Cheetham ME
Prog Retin Eye Res
2018 Jan;62:1-23.
Epub 2017 Oct 16
doi: 10.1016/j.preteyeres.2017.10.002.
PMID: 29042326Free PMC Article
Cashman SM,
Binkley EA,
Kumar-Singh R
Gene Ther
2005 Aug;12(15):1223-8.
doi: 10.1038/sj.gt.3302512.
PMID: 15877050
Prognosis
Kim AH,
Liu PK,
Chang YH,
Kang EY,
Wang HH,
Chen N,
Tseng YJ,
Seo GH,
Lee H,
Liu L,
Chao AN,
Chen KJ,
Hwang YS,
Wu WC,
Lai CC,
Tsang SH,
Hsiao MC,
Wang NK
Int J Mol Sci
2022 Nov 29;23(23)
doi: 10.3390/ijms232314965.
PMID: 36499293Free PMC Article
Pasutto F,
Ekici A,
Reis A,
Kremers J,
Huchzermeyer C
Ophthalmic Genet
2018 Dec;39(6):741-748.
Epub 2018 Sep 27
doi: 10.1080/13816810.2018.1520263.
PMID: 30260717
Zeitz C,
Méjécase C,
Stévenard M,
Michiels C,
Audo I,
Marmor MF
Biomed Res Int
2018;2018:7694801.
Epub 2018 Apr 23
doi: 10.1155/2018/7694801.
PMID: 29850563Free PMC Article
Gal A,
Orth U,
Baehr W,
Schwinger E,
Rosenberg T
Nat Genet
1994 May;7(1):64-8.
doi: 10.1038/ng0594-64.
PMID: 8075643
Rosenberg T,
Haim M,
Piczenik Y,
Simonsen SE
Acta Ophthalmol (Copenh)
1991 Dec;69(6):694-702.
doi: 10.1111/j.1755-3768.1991.tb02046.x.
PMID: 1789082
Clinical prediction guides
Kim AH,
Liu PK,
Chang YH,
Kang EY,
Wang HH,
Chen N,
Tseng YJ,
Seo GH,
Lee H,
Liu L,
Chao AN,
Chen KJ,
Hwang YS,
Wu WC,
Lai CC,
Tsang SH,
Hsiao MC,
Wang NK
Int J Mol Sci
2022 Nov 29;23(23)
doi: 10.3390/ijms232314965.
PMID: 36499293Free PMC Article
Peshenko IV,
Olshevskaya EV,
Dizhoor AM
J Biol Chem
2020 Dec 25;295(52):18301-18315.
Epub 2020 Oct 27
doi: 10.1074/jbc.RA120.015553.
PMID: 33109612Free PMC Article
Hayashi T,
Hosono K,
Kurata K,
Katagiri S,
Mizobuchi K,
Ueno S,
Kondo M,
Nakano T,
Hotta Y
Doc Ophthalmol
2020 Apr;140(2):147-157.
Epub 2019 Oct 3
doi: 10.1007/s10633-019-09727-1.
PMID: 31583501
Gal A,
Orth U,
Baehr W,
Schwinger E,
Rosenberg T
Nat Genet
1994 May;7(1):64-8.
doi: 10.1038/ng0594-64.
PMID: 8075643
Price MJ,
Thompson HS,
Judisch GF,
Corbett JJ
Br J Ophthalmol
1985 Mar;69(3):205-11.
doi: 10.1136/bjo.69.3.205.
PMID: 3872134Free PMC Article