Etiology
Weiss JS,
Rapuano CJ,
Seitz B,
Busin M,
Kivelä TT,
Bouheraoua N,
Bredrup C,
Nischal KK,
Chawla H,
Borderie V,
Kenyon KR,
Kim EK,
Møller HU,
Munier FL,
Berger T,
Lisch W
Cornea
2024 Apr 1;43(4):466-527.
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Kannabiran C,
Chaurasia S,
Ramappa M,
Mootha VV
Indian J Ophthalmol
2022 Jul;70(7):2239-2248.
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Lisch W,
Weiss JS
Exp Eye Res
2020 Sep;198:108139.
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Klintworth GK
Orphanet J Rare Dis
2009 Feb 23;4:7.
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PMID: 19236704Free PMC Article
Hamel CP
Orphanet J Rare Dis
2007 Feb 1;2:7.
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PMID: 17270046Free PMC Article
Diagnosis
Weiss JS,
Rapuano CJ,
Seitz B,
Busin M,
Kivelä TT,
Bouheraoua N,
Bredrup C,
Nischal KK,
Chawla H,
Borderie V,
Kenyon KR,
Kim EK,
Møller HU,
Munier FL,
Berger T,
Lisch W
Cornea
2024 Apr 1;43(4):466-527.
Epub 2024 Feb 12
doi: 10.1097/ICO.0000000000003420.
PMID: 38359414Free PMC Article
Weiss JS,
Møller HU,
Aldave AJ,
Seitz B,
Bredrup C,
Kivelä T,
Munier FL,
Rapuano CJ,
Nischal KK,
Kim EK,
Sutphin J,
Busin M,
Labbé A,
Kenyon KR,
Kinoshita S,
Lisch W
Cornea
2015 Feb;34(2):117-59.
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PMID: 25564336
Klintworth GK
Orphanet J Rare Dis
2009 Feb 23;4:7.
doi: 10.1186/1750-1172-4-7.
PMID: 19236704Free PMC Article
Hamel CP
Orphanet J Rare Dis
2007 Feb 1;2:7.
doi: 10.1186/1750-1172-2-7.
PMID: 17270046Free PMC Article
Fernandez-Sasso D,
Acosta JE,
Malbran E
Br J Ophthalmol
1979 May;63(5):336-8.
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Therapy
Chang MS,
Jun I,
Kim EK
Korean J Ophthalmol
2023 Aug;37(4):340-347.
Epub 2023 Jun 19
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El-Abiary M,
Diaper C
Orbit
2019 Dec;38(6):511-513.
Epub 2019 Jan 27
doi: 10.1080/01676830.2019.1567799.
PMID: 30688154
Lau LC,
Ma L,
Young AL,
Rong SS,
Jhanji V,
Brelen ME,
Pang CP,
Chen LJ
PLoS One
2014;9(10):e109142.
Epub 2014 Oct 9
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Solomon JP,
Page LJ,
Balch WE,
Kelly JW
Crit Rev Biochem Mol Biol
2012 May-Jun;47(3):282-96.
Epub 2012 Feb 24
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Han KE,
Kim TI,
Chung WS,
Choi SI,
Kim BY,
Kim EK
Eye Contact Lens
2010 Sep;36(5):296-9.
doi: 10.1097/ICL.0b013e3181ef0da0.
PMID: 20724852
Prognosis
Braddock FL,
Gardner JC,
Bhattacharyya N,
Sanchez-Pintado B,
Costa M,
Zarouchlioti C,
Szabo A,
Lišková P,
Cheetham ME,
Young RD,
Thaung C,
Davidson AE,
Tuft SJ,
Hardcastle AJ
Eur J Hum Genet
2024 Dec;32(12):1583-1589.
Epub 2024 Aug 21
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PMID: 39169229Free PMC Article
Solomon JP,
Page LJ,
Balch WE,
Kelly JW
Crit Rev Biochem Mol Biol
2012 May-Jun;47(3):282-96.
Epub 2012 Feb 24
doi: 10.3109/10409238.2012.661401.
PMID: 22360545Free PMC Article
Weiss JS,
Khemichian AJ
Dev Ophthalmol
2011;48:67-96.
Epub 2011 Apr 26
doi: 10.1159/000324078.
PMID: 21540632
Klintworth GK
Orphanet J Rare Dis
2009 Feb 23;4:7.
doi: 10.1186/1750-1172-4-7.
PMID: 19236704Free PMC Article
Hamel CP
Orphanet J Rare Dis
2007 Feb 1;2:7.
doi: 10.1186/1750-1172-2-7.
PMID: 17270046Free PMC Article
Clinical prediction guides
Braddock FL,
Gardner JC,
Bhattacharyya N,
Sanchez-Pintado B,
Costa M,
Zarouchlioti C,
Szabo A,
Lišková P,
Cheetham ME,
Young RD,
Thaung C,
Davidson AE,
Tuft SJ,
Hardcastle AJ
Eur J Hum Genet
2024 Dec;32(12):1583-1589.
Epub 2024 Aug 21
doi: 10.1038/s41431-024-01687-8.
PMID: 39169229Free PMC Article
Weiss JS,
Khemichian AJ
Dev Ophthalmol
2011;48:67-96.
Epub 2011 Apr 26
doi: 10.1159/000324078.
PMID: 21540632
Tocyap ML,
Azar N,
Chen T,
Wiggs J
Am J Ophthalmol
2006 Mar;141(3):566-567.
doi: 10.1016/j.ajo.2005.09.024.
PMID: 16490510
Rosenblum P,
Stark WJ,
Maumenee IH,
Hirst LW,
Maumenee AE
Am J Ophthalmol
1980 Oct;90(4):455-62.
doi: 10.1016/s0002-9394(14)75011-1.
PMID: 6968504
Fernandez-Sasso D,
Acosta JE,
Malbran E
Br J Ophthalmol
1979 May;63(5):336-8.
doi: 10.1136/bjo.63.5.336.
PMID: 313810Free PMC Article