Etiology
Meunier A,
Zanlonghi X,
Roux AF,
Fils JF,
Caspers L,
Migeotte I,
Abramowicz M,
Meunier I
Ophthalmic Genet
2022 Aug;43(4):470-475.
Epub 2022 Mar 28
doi: 10.1080/13816810.2022.2051191.
PMID: 35345973
Duncan JL,
Liang W,
Maguire MG,
Audo I,
Ayala AR,
Birch DG,
Carroll J,
Cheetham JK,
Esposti SD,
Durham TA,
Erker L,
Farsiu S,
Ferris FL 3rd,
Heon E,
Hufnagel RB,
Iannaccone A,
Jaffe GJ,
Kay CN,
Michaelides M,
Pennesi ME,
Sahel JA;
Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol
2020 Nov;219:87-100.
Epub 2020 May 22
doi: 10.1016/j.ajo.2020.05.024.
PMID: 32446738Free PMC Article
Rowe FJ,
Hepworth LR,
Hanna KL,
Mistry M,
Noonan CP
Eye (Lond)
2019 Dec;33(12):1952-1960.
Epub 2019 Jul 22
doi: 10.1038/s41433-019-0520-1.
PMID: 31332292Free PMC Article
Calzetti G,
Levy RA,
Cideciyan AV,
Garafalo AV,
Roman AJ,
Sumaroka A,
Charng J,
Heon E,
Jacobson SG
Am J Ophthalmol
2018 Sep;193:114-129.
Epub 2018 Jun 25
doi: 10.1016/j.ajo.2018.06.017.
PMID: 29953849
Clayton LM,
Devile M,
Punte T,
de Haan GJ,
Sander JW,
Acheson JF,
Sisodiya SM
Ophthalmology
2012 Oct;119(10):2152-60.
Epub 2012 Jul 30
doi: 10.1016/j.ophtha.2012.05.009.
PMID: 22853973
Diagnosis
Meunier A,
Zanlonghi X,
Roux AF,
Fils JF,
Caspers L,
Migeotte I,
Abramowicz M,
Meunier I
Ophthalmic Genet
2022 Aug;43(4):470-475.
Epub 2022 Mar 28
doi: 10.1080/13816810.2022.2051191.
PMID: 35345973
Ashimatey BS,
King BJ,
Swanson WH
Ophthalmic Physiol Opt
2021 Mar;41(2):437-446.
Epub 2021 Jan 25
doi: 10.1111/opo.12780.
PMID: 33492742Free PMC Article
Rowe FJ,
Hepworth LR,
Hanna KL,
Mistry M,
Noonan CP
Eye (Lond)
2019 Dec;33(12):1952-1960.
Epub 2019 Jul 22
doi: 10.1038/s41433-019-0520-1.
PMID: 31332292Free PMC Article
Calzetti G,
Levy RA,
Cideciyan AV,
Garafalo AV,
Roman AJ,
Sumaroka A,
Charng J,
Heon E,
Jacobson SG
Am J Ophthalmol
2018 Sep;193:114-129.
Epub 2018 Jun 25
doi: 10.1016/j.ajo.2018.06.017.
PMID: 29953849
Clayton LM,
Devile M,
Punte T,
de Haan GJ,
Sander JW,
Acheson JF,
Sisodiya SM
Ophthalmology
2012 Oct;119(10):2152-60.
Epub 2012 Jul 30
doi: 10.1016/j.ophtha.2012.05.009.
PMID: 22853973
Therapy
Calzetti G,
Levy RA,
Cideciyan AV,
Garafalo AV,
Roman AJ,
Sumaroka A,
Charng J,
Heon E,
Jacobson SG
Am J Ophthalmol
2018 Sep;193:114-129.
Epub 2018 Jun 25
doi: 10.1016/j.ajo.2018.06.017.
PMID: 29953849
Sarnat-Kucharczyk M,
Pojda-Wilczek D,
Mrukwa-Kominek E
Doc Ophthalmol
2016 Oct;133(2):129-138.
Epub 2016 Jul 8
doi: 10.1007/s10633-016-9552-z.
PMID: 27392933Free PMC Article
Clayton LM,
Devile M,
Punte T,
de Haan GJ,
Sander JW,
Acheson JF,
Sisodiya SM
Ophthalmology
2012 Oct;119(10):2152-60.
Epub 2012 Jul 30
doi: 10.1016/j.ophtha.2012.05.009.
PMID: 22853973
Sorri I,
Rissanen E,
Mäntyjärvi M,
Kälviäinen R
Seizure
2005 Sep;14(6):367-70.
doi: 10.1016/j.seizure.2005.04.010.
PMID: 15939631
Keltner JL,
Johnson CA,
Spurr JO,
Beck RW
Am J Ophthalmol
1999 Nov;128(5):543-53.
doi: 10.1016/s0002-9394(99)00304-9.
PMID: 10577521
Prognosis
Yang P,
Chiang PW,
Weleber RG,
Pennesi ME
JAMA Ophthalmol
2015 Jun;133(6):653-61.
doi: 10.1001/jamaophthalmol.2015.0357.
PMID: 25789692Free PMC Article
Neri A,
Leaci R,
Zenteno JC,
Casubolo C,
Delfini E,
Macaluso C
Mol Vis
2012;18:2623-32.
Epub 2012 Oct 26
PMID: 23112574Free PMC Article
Gaily E,
Jonsson H,
Lappi M
Epilepsia
2009 Feb;50(2):206-16.
doi: 10.1111/j.1528-1167.2008.01961.x.
PMID: 19215279
Fishman GA,
Bozbeyoglu S,
Massof RW,
Kimberling W
Retina
2007 Jun;27(5):601-8.
doi: 10.1097/01.iae.0000246675.88911.2c.
PMID: 17558323
Clinical prediction guides
Meunier A,
Zanlonghi X,
Roux AF,
Fils JF,
Caspers L,
Migeotte I,
Abramowicz M,
Meunier I
Ophthalmic Genet
2022 Aug;43(4):470-475.
Epub 2022 Mar 28
doi: 10.1080/13816810.2022.2051191.
PMID: 35345973
Calzetti G,
Levy RA,
Cideciyan AV,
Garafalo AV,
Roman AJ,
Sumaroka A,
Charng J,
Heon E,
Jacobson SG
Am J Ophthalmol
2018 Sep;193:114-129.
Epub 2018 Jun 25
doi: 10.1016/j.ajo.2018.06.017.
PMID: 29953849
Yang P,
Chiang PW,
Weleber RG,
Pennesi ME
JAMA Ophthalmol
2015 Jun;133(6):653-61.
doi: 10.1001/jamaophthalmol.2015.0357.
PMID: 25789692Free PMC Article
Clayton LM,
Devile M,
Punte T,
de Haan GJ,
Sander JW,
Acheson JF,
Sisodiya SM
Ophthalmology
2012 Oct;119(10):2152-60.
Epub 2012 Jul 30
doi: 10.1016/j.ophtha.2012.05.009.
PMID: 22853973
Brown J Jr,
Kimura AE,
Gorin MB
Ophthalmology
2000 Jun;107(6):1104-10.
doi: 10.1016/s0161-6420(00)00086-5.
PMID: 10857830