Etiology
Marziali E,
Van Den Broeck F,
Bargiacchi S,
Fortunato P,
Caputo R,
Sodi A,
De Zaeytijd J,
Murro V,
Mucciolo DP,
Giorgio D,
Passerini I,
Palazzo V,
Peluso F,
de Baere E,
Zeitz C,
Leroy BP,
Secci J,
Bacci GM
Ophthalmic Genet
2023 Apr;44(2):152-162.
Epub 2022 Dec 5
doi: 10.1080/13816810.2022.2132514.
PMID: 36469668
Ueno S,
Inooka D,
Meinert M,
Ito Y,
Tsunoda K,
Fujinami K,
Iwata T,
Ohde H,
Terasaki H
Jpn J Ophthalmol
2019 Mar;63(2):172-180.
Epub 2019 Jan 2
doi: 10.1007/s10384-018-00649-0.
PMID: 30604114
Stunkel ML,
Brodie SE,
Cideciyan AV,
Pfeifer WL,
Kennedy EL,
Stone EM,
Jacobson SG,
Drack AV
Am J Ophthalmol
2018 Jun;190:58-68.
Epub 2018 Mar 17
doi: 10.1016/j.ajo.2018.03.021.
PMID: 29559409
Sahel JA,
Marazova K,
Audo I
Cold Spring Harb Perspect Med
2014 Oct 16;5(2):a017111.
doi: 10.1101/cshperspect.a017111.
PMID: 25324231Free PMC Article
Barnes CS,
Alexander KR,
Fishman GA
Ophthalmology
2002 Mar;109(3):575-83.
doi: 10.1016/s0161-6420(01)00981-2.
PMID: 11874764
Diagnosis
Marziali E,
Van Den Broeck F,
Bargiacchi S,
Fortunato P,
Caputo R,
Sodi A,
De Zaeytijd J,
Murro V,
Mucciolo DP,
Giorgio D,
Passerini I,
Palazzo V,
Peluso F,
de Baere E,
Zeitz C,
Leroy BP,
Secci J,
Bacci GM
Ophthalmic Genet
2023 Apr;44(2):152-162.
Epub 2022 Dec 5
doi: 10.1080/13816810.2022.2132514.
PMID: 36469668
Marques JP,
Chaves J
JAMA Ophthalmol
2022 Apr 1;140(4):e216343.
Epub 2022 Apr 21
doi: 10.1001/jamaophthalmol.2021.6343.
PMID: 35446361
Ueno S,
Inooka D,
Meinert M,
Ito Y,
Tsunoda K,
Fujinami K,
Iwata T,
Ohde H,
Terasaki H
Jpn J Ophthalmol
2019 Mar;63(2):172-180.
Epub 2019 Jan 2
doi: 10.1007/s10384-018-00649-0.
PMID: 30604114
Tremblay F,
Laroche RG,
De Becker I
Vision Res
1995 Aug;35(16):2383-93.
doi: 10.1016/0042-6989(95)00006-l.
PMID: 7571473
De Laey JJ
Bull Soc Belge Ophtalmol
1991;241:41-50.
PMID: 1840995
Therapy
Ninomiya W,
Mizobuchi K,
Hayashi T,
Okude S,
Katagiri S,
Kubo A,
Masuhara N,
Nakano T
Doc Ophthalmol
2020 Jun;140(3):279-287.
Epub 2020 Jan 3
doi: 10.1007/s10633-019-09743-1.
PMID: 31900741
Sahel JA,
Marazova K,
Audo I
Cold Spring Harb Perspect Med
2014 Oct 16;5(2):a017111.
doi: 10.1101/cshperspect.a017111.
PMID: 25324231Free PMC Article
Prognosis
Ueno S,
Inooka D,
Meinert M,
Ito Y,
Tsunoda K,
Fujinami K,
Iwata T,
Ohde H,
Terasaki H
Jpn J Ophthalmol
2019 Mar;63(2):172-180.
Epub 2019 Jan 2
doi: 10.1007/s10384-018-00649-0.
PMID: 30604114
Traboulsi EI
Br J Ophthalmol
2010 Oct;94(10):1281-7.
Epub 2009 Oct 12
doi: 10.1136/bjo.2009.165654.
PMID: 19825837
Zeitz C,
Gross AK,
Leifert D,
Kloeckener-Gruissem B,
McAlear SD,
Lemke J,
Neidhardt J,
Berger W
Invest Ophthalmol Vis Sci
2008 Sep;49(9):4105-14.
Epub 2008 May 16
doi: 10.1167/iovs.08-1717.
PMID: 18487375
Jalkanen R,
Bech-Hansen NT,
Tobias R,
Sankila EM,
Mäntyjärvi M,
Forsius H,
de la Chapelle A,
Alitalo T
Invest Ophthalmol Vis Sci
2007 Jun;48(6):2498-502.
doi: 10.1167/iovs.06-1103.
PMID: 17525176
Nakamura M,
Ito S,
Terasaki H,
Miyake Y
Invest Ophthalmol Vis Sci
2001 Jun;42(7):1610-6.
PMID: 11381068
Clinical prediction guides
Marziali E,
Van Den Broeck F,
Bargiacchi S,
Fortunato P,
Caputo R,
Sodi A,
De Zaeytijd J,
Murro V,
Mucciolo DP,
Giorgio D,
Passerini I,
Palazzo V,
Peluso F,
de Baere E,
Zeitz C,
Leroy BP,
Secci J,
Bacci GM
Ophthalmic Genet
2023 Apr;44(2):152-162.
Epub 2022 Dec 5
doi: 10.1080/13816810.2022.2132514.
PMID: 36469668
Ninomiya W,
Mizobuchi K,
Hayashi T,
Okude S,
Katagiri S,
Kubo A,
Masuhara N,
Nakano T
Doc Ophthalmol
2020 Jun;140(3):279-287.
Epub 2020 Jan 3
doi: 10.1007/s10633-019-09743-1.
PMID: 31900741
Barnes CS,
Alexander KR,
Fishman GA
Ophthalmology
2002 Mar;109(3):575-83.
doi: 10.1016/s0161-6420(01)00981-2.
PMID: 11874764
Nakamura M,
Ito S,
Terasaki H,
Miyake Y
Invest Ophthalmol Vis Sci
2001 Jun;42(7):1610-6.
PMID: 11381068
Tremblay F,
Laroche RG,
De Becker I
Vision Res
1995 Aug;35(16):2383-93.
doi: 10.1016/0042-6989(95)00006-l.
PMID: 7571473