Etiology
Landau-Prat D,
Kim DH,
Bautista S,
Strong A,
Revere KE,
Katowitz WR,
Katowitz JA
Ophthalmic Genet
2023 Dec;44(6):547-552.
Epub 2023 Jul 26
doi: 10.1080/13816810.2023.2237568.
PMID: 37493047
Chee JM,
Lanoue L,
Clary D,
Higgins K,
Bower L,
Flenniken A,
Guo R,
Adams DJ,
Bosch F,
Braun RE,
Brown SDM,
Chin HG,
Dickinson ME,
Hsu CW,
Dobbie M,
Gao X,
Galande S,
Grobler A,
Heaney JD,
Herault Y,
de Angelis MH,
Mammano F,
Nutter LMJ,
Parkinson H,
Qin C,
Shiroishi T,
Sedlacek R,
Seong JK,
Xu Y;
International Mouse Phenotyping Consortium,
Brooks B,
McKerlie C,
Lloyd KCK,
Westerberg H,
Moshiri A
BMC Biol
2023 Feb 3;21(1):22.
doi: 10.1186/s12915-022-01475-0.
PMID: 36737727Free PMC Article
Yenice EK,
Petriçli İS,
Kara C
Arq Bras Oftalmol
2022;87(1):0536.
Epub 2022 Jul 18
doi: 10.5935/0004-2749.2021-0536.
PMID: 35857993
Morrison D,
FitzPatrick D,
Hanson I,
Williamson K,
van Heyningen V,
Fleck B,
Jones I,
Chalmers J,
Campbell H
J Med Genet
2002 Jan;39(1):16-22.
doi: 10.1136/jmg.39.1.16.
PMID: 11826019Free PMC Article
Warburg M
J Med Genet
1993 Aug;30(8):664-9.
doi: 10.1136/jmg.30.8.664.
PMID: 8411053Free PMC Article
Diagnosis
Landau-Prat D,
Kim DH,
Bautista S,
Strong A,
Revere KE,
Katowitz WR,
Katowitz JA
Ophthalmic Genet
2023 Dec;44(6):547-552.
Epub 2023 Jul 26
doi: 10.1080/13816810.2023.2237568.
PMID: 37493047
Chee JM,
Lanoue L,
Clary D,
Higgins K,
Bower L,
Flenniken A,
Guo R,
Adams DJ,
Bosch F,
Braun RE,
Brown SDM,
Chin HG,
Dickinson ME,
Hsu CW,
Dobbie M,
Gao X,
Galande S,
Grobler A,
Heaney JD,
Herault Y,
de Angelis MH,
Mammano F,
Nutter LMJ,
Parkinson H,
Qin C,
Shiroishi T,
Sedlacek R,
Seong JK,
Xu Y;
International Mouse Phenotyping Consortium,
Brooks B,
McKerlie C,
Lloyd KCK,
Westerberg H,
Moshiri A
BMC Biol
2023 Feb 3;21(1):22.
doi: 10.1186/s12915-022-01475-0.
PMID: 36737727Free PMC Article
Ohuchi H,
Sato K,
Habuta M,
Fujita H,
Bando T
Congenit Anom (Kyoto)
2019 May;59(3):56-73.
Epub 2018 Aug 21
doi: 10.1111/cga.12304.
PMID: 30039880
Schmitzer S,
Burcel M,
Dăscălescu D,
Popteanu IC
Rom J Ophthalmol
2018 Apr-Jun;62(2):96-104.
PMID: 30206552Free PMC Article
Morrison D,
FitzPatrick D,
Hanson I,
Williamson K,
van Heyningen V,
Fleck B,
Jones I,
Chalmers J,
Campbell H
J Med Genet
2002 Jan;39(1):16-22.
doi: 10.1136/jmg.39.1.16.
PMID: 11826019Free PMC Article
Therapy
Perez-Aytes A,
Marin-Reina P,
Boso V,
Ledo A,
Carey JC,
Vento M
Eur J Med Genet
2017 Jan;60(1):16-21.
Epub 2016 Sep 14
doi: 10.1016/j.ejmg.2016.09.014.
PMID: 27639443
Prokudin I,
Simons C,
Grigg JR,
Storen R,
Kumar V,
Phua ZY,
Smith J,
Flaherty M,
Davila S,
Jamieson RV
Eur J Hum Genet
2014 Jul;22(7):907-15.
Epub 2013 Nov 27
doi: 10.1038/ejhg.2013.268.
PMID: 24281366Free PMC Article
Wang L,
He F,
Bu J,
Zhen Y,
Liu X,
Du W,
Dong J,
Cooney JD,
Dubey SK,
Shi Y,
Gong B,
Li J,
McBride PF,
Jia Y,
Lu F,
Soltis KA,
Lin Y,
Namburi P,
Liang C,
Sundaresan P,
Paw BH,
Li W,
Li DY,
Phillips JD,
Yang Z
Am J Hum Genet
2012 Jan 13;90(1):40-8.
Epub 2012 Jan 5
doi: 10.1016/j.ajhg.2011.11.026.
PMID: 22226084Free PMC Article
Källén B,
Tornqvist K
Eur J Epidemiol
2005;20(4):345-50.
doi: 10.1007/s10654-004-6880-1.
PMID: 15971507
Hornby SJ,
Ward SJ,
Gilbert CE,
Dandona L,
Foster A,
Jones RB
Ann Trop Paediatr
2002 Mar;22(1):67-77.
doi: 10.1179/027249302125000193.
PMID: 11926054
Prognosis
Riva A,
Gambadauro A,
Dipasquale V,
Casto C,
Ceravolo MD,
Accogli A,
Scala M,
Ceravolo G,
Iacomino M,
Zara F,
Striano P,
Cuppari C,
Di Rosa G,
Cutrupi MC,
Salpietro V,
Chimenz R
Int J Mol Sci
2021 Apr 25;22(9)
doi: 10.3390/ijms22094471.
PMID: 33922911Free PMC Article
Chowdhury F,
Wang L,
Al-Raqad M,
Amor DJ,
Baxová A,
Bendová Š,
Biamino E,
Brusco A,
Caluseriu O,
Cox NJ,
Froukh T,
Gunay-Aygun M,
Hančárová M,
Haynes D,
Heide S,
Hoganson G,
Kaname T,
Keren B,
Kosaki K,
Kubota K,
Lemons JM,
Magriña MA,
Mark PR,
McDonald MT,
Montgomery S,
Morley GM,
Ohnishi H,
Okamoto N,
Rodriguez-Buritica D,
Rump P,
Sedláček Z,
Schatz K,
Streff H,
Uehara T,
Walia JS,
Wheeler PG,
Wiesener A,
Zweier C,
Kawakami K,
Wentzensen IM,
Lalani SR,
Siu VM,
Bi W,
Balci TB
Genet Med
2021 Jul;23(7):1234-1245.
Epub 2021 Apr 6
doi: 10.1038/s41436-021-01129-6.
PMID: 33824499
Shah SP,
Taylor AE,
Sowden JC,
Ragge NK,
Russell-Eggitt I,
Rahi JS,
Gilbert CE;
Surveillance of Eye Anomalies (SEA-UK) Special Interest Group
Invest Ophthalmol Vis Sci
2011 Feb 1;52(1):558-64.
doi: 10.1167/iovs.10-5263.
PMID: 20574025
Hornby SJ,
Adolph S,
Gilbert CE,
Dandona L,
Foster A
Ophthalmology
2000 Mar;107(3):511-20.
doi: 10.1016/s0161-6420(99)00140-2.
PMID: 10711890
Warburg M
J Med Genet
1993 Aug;30(8):664-9.
doi: 10.1136/jmg.30.8.664.
PMID: 8411053Free PMC Article
Clinical prediction guides
Chowdhury F,
Wang L,
Al-Raqad M,
Amor DJ,
Baxová A,
Bendová Š,
Biamino E,
Brusco A,
Caluseriu O,
Cox NJ,
Froukh T,
Gunay-Aygun M,
Hančárová M,
Haynes D,
Heide S,
Hoganson G,
Kaname T,
Keren B,
Kosaki K,
Kubota K,
Lemons JM,
Magriña MA,
Mark PR,
McDonald MT,
Montgomery S,
Morley GM,
Ohnishi H,
Okamoto N,
Rodriguez-Buritica D,
Rump P,
Sedláček Z,
Schatz K,
Streff H,
Uehara T,
Walia JS,
Wheeler PG,
Wiesener A,
Zweier C,
Kawakami K,
Wentzensen IM,
Lalani SR,
Siu VM,
Bi W,
Balci TB
Genet Med
2021 Jul;23(7):1234-1245.
Epub 2021 Apr 6
doi: 10.1038/s41436-021-01129-6.
PMID: 33824499
Huang XF,
Xiang L,
Cheng W,
Cheng FF,
He KW,
Zhang BW,
Zheng SS,
Han RY,
Zheng YH,
Xu XT,
Yu HY,
Zhuang W,
Leung YF,
Jin ZB
Exp Mol Med
2018 Apr 27;50(4):1-11.
doi: 10.1038/s12276-018-0079-0.
PMID: 29700284Free PMC Article
Wang L,
He F,
Bu J,
Zhen Y,
Liu X,
Du W,
Dong J,
Cooney JD,
Dubey SK,
Shi Y,
Gong B,
Li J,
McBride PF,
Jia Y,
Lu F,
Soltis KA,
Lin Y,
Namburi P,
Liang C,
Sundaresan P,
Paw BH,
Li W,
Li DY,
Phillips JD,
Yang Z
Am J Hum Genet
2012 Jan 13;90(1):40-8.
Epub 2012 Jan 5
doi: 10.1016/j.ajhg.2011.11.026.
PMID: 22226084Free PMC Article
Hornby SJ,
Adolph S,
Gilbert CE,
Dandona L,
Foster A
Ophthalmology
2000 Mar;107(3):511-20.
doi: 10.1016/s0161-6420(99)00140-2.
PMID: 10711890
Warburg M
J Med Genet
1993 Aug;30(8):664-9.
doi: 10.1136/jmg.30.8.664.
PMID: 8411053Free PMC Article