Etiology
Costan VV,
Bogdănici CM,
Gheorghe L,
Obadă O,
Budacu C,
Grigoraș C,
Andronic DG,
Niagu IA
Rom J Ophthalmol
2020 Apr-Jun;64(2):116-121.
PMID: 32685776Free PMC Article
Law SK,
Wang L,
Li T
Cochrane Database Syst Rev
2020 Feb 7;2(2):CD006030.
doi: 10.1002/14651858.CD006030.pub4.
PMID: 32032457Free PMC Article
Kousal B,
Kolarova H,
Meliska M,
Bydzovsky J,
Diblik P,
Kulhanek J,
Votruba M,
Honzik T,
Liskova P
Acta Ophthalmol
2019 Feb;97(1):e71-e76.
Epub 2018 Sep 26
doi: 10.1111/aos.13817.
PMID: 30259673
Gliem M,
Müller PL,
Birtel J,
McGuinness MB,
Finger RP,
Herrmann P,
Hendig D,
Holz FG,
Charbel Issa P
Invest Ophthalmol Vis Sci
2017 Dec 1;58(14):6159-6165.
doi: 10.1167/iovs.17-22007.
PMID: 29214314
Karaa A,
Goldstein A
Pediatr Diabetes
2015 Feb;16(1):1-9.
Epub 2014 Oct 20
doi: 10.1111/pedi.12223.
PMID: 25330715
Diagnosis
Vezyroglou A,
Akilapa R,
Barwick K,
Koene S,
Brownstein CA,
Holder-Espinasse M,
Fry AE,
Németh AH,
Tofaris GK,
Hay E,
Hughes I,
Mansour S,
Mordekar SR,
Splitt M,
Turnpenny PD,
Demetriou D,
Koopmann TT,
Ruivenkamp CAL,
Agrawal PB,
Carr L,
Clowes V,
Ghali N,
Holder SE,
Radley J,
Male A,
Sisodiya SM,
Kurian MA,
Cross JH,
Balasubramanian M
Neurology
2022 Oct 4;99(14):e1511-e1526.
Epub 2022 Jul 18
doi: 10.1212/WNL.0000000000200927.
PMID: 36192182Free PMC Article
Gliem M,
Müller PL,
Birtel J,
McGuinness MB,
Finger RP,
Herrmann P,
Hendig D,
Holz FG,
Charbel Issa P
Invest Ophthalmol Vis Sci
2017 Dec 1;58(14):6159-6165.
doi: 10.1167/iovs.17-22007.
PMID: 29214314
Petzold A,
Balcer LJ,
Calabresi PA,
Costello F,
Frohman TC,
Frohman EM,
Martinez-Lapiscina EH,
Green AJ,
Kardon R,
Outteryck O,
Paul F,
Schippling S,
Vermersch P,
Villoslada P,
Balk LJ;
ERN-EYE IMSVISUAL
Lancet Neurol
2017 Oct;16(10):797-812.
Epub 2017 Sep 12
doi: 10.1016/S1474-4422(17)30278-8.
PMID: 28920886
Urano F
Curr Diab Rep
2016 Jan;16(1):6.
doi: 10.1007/s11892-015-0702-6.
PMID: 26742931Free PMC Article
Karaa A,
Goldstein A
Pediatr Diabetes
2015 Feb;16(1):1-9.
Epub 2014 Oct 20
doi: 10.1111/pedi.12223.
PMID: 25330715
Therapy
Moharana B,
Parija S,
Palanisamy S,
Mishra P
BMJ Case Rep
2023 Jul 19;16(7)
doi: 10.1136/bcr-2023-255096.
PMID: 37474142Free PMC Article
Paramo R,
Leishangthem L
BMJ Case Rep
2023 Mar 28;16(3)
doi: 10.1136/bcr-2022-252731.
PMID: 36977510Free PMC Article
Law SK,
Wang L,
Li T
Cochrane Database Syst Rev
2020 Feb 7;2(2):CD006030.
doi: 10.1002/14651858.CD006030.pub4.
PMID: 32032457Free PMC Article
Petzold A,
Balcer LJ,
Calabresi PA,
Costello F,
Frohman TC,
Frohman EM,
Martinez-Lapiscina EH,
Green AJ,
Kardon R,
Outteryck O,
Paul F,
Schippling S,
Vermersch P,
Villoslada P,
Balk LJ;
ERN-EYE IMSVISUAL
Lancet Neurol
2017 Oct;16(10):797-812.
Epub 2017 Sep 12
doi: 10.1016/S1474-4422(17)30278-8.
PMID: 28920886
Kirchhof B,
Wong D,
Van Meurs J,
Hilgers RD,
Macek M,
Lois N,
Schrage NF
Am J Ophthalmol
2002 Jan;133(1):95-101.
doi: 10.1016/s0002-9394(01)01295-8.
PMID: 11755844
Prognosis
Vetro A,
Nielsen HN,
Holm R,
Hevner RF,
Parrini E,
Powis Z,
Møller RS,
Bellan C,
Simonati A,
Lesca G,
Helbig KL,
Palmer EE,
Mei D,
Ballardini E,
Van Haeringen A,
Syrbe S,
Leuzzi V,
Cioni G,
Curry CJ,
Costain G,
Santucci M,
Chong K,
Mancini GMS,
Clayton-Smith J,
Bigoni S,
Scheffer IE,
Dobyns WB,
Vilsen B,
Guerrini R;
ATP1A2/A3-collaborators
Brain
2021 Jun 22;144(5):1435-1450.
doi: 10.1093/brain/awab052.
PMID: 33880529
Costan VV,
Bogdănici CM,
Gheorghe L,
Obadă O,
Budacu C,
Grigoraș C,
Andronic DG,
Niagu IA
Rom J Ophthalmol
2020 Apr-Jun;64(2):116-121.
PMID: 32685776Free PMC Article
Urano F
Curr Diab Rep
2016 Jan;16(1):6.
doi: 10.1007/s11892-015-0702-6.
PMID: 26742931Free PMC Article
Mudgil AV,
Repka MX
Clin Exp Ophthalmol
2000 Feb;28(1):34-7.
doi: 10.1046/j.1442-9071.2000.00254.x.
PMID: 11345343
Fielder AR,
Fulton AB,
Mayer DL
Ophthalmology
1991 Aug;98(8):1306-9.
doi: 10.1016/s0161-6420(91)32138-9.
PMID: 1923371
Clinical prediction guides
Vezyroglou A,
Akilapa R,
Barwick K,
Koene S,
Brownstein CA,
Holder-Espinasse M,
Fry AE,
Németh AH,
Tofaris GK,
Hay E,
Hughes I,
Mansour S,
Mordekar SR,
Splitt M,
Turnpenny PD,
Demetriou D,
Koopmann TT,
Ruivenkamp CAL,
Agrawal PB,
Carr L,
Clowes V,
Ghali N,
Holder SE,
Radley J,
Male A,
Sisodiya SM,
Kurian MA,
Cross JH,
Balasubramanian M
Neurology
2022 Oct 4;99(14):e1511-e1526.
Epub 2022 Jul 18
doi: 10.1212/WNL.0000000000200927.
PMID: 36192182Free PMC Article
Vetro A,
Nielsen HN,
Holm R,
Hevner RF,
Parrini E,
Powis Z,
Møller RS,
Bellan C,
Simonati A,
Lesca G,
Helbig KL,
Palmer EE,
Mei D,
Ballardini E,
Van Haeringen A,
Syrbe S,
Leuzzi V,
Cioni G,
Curry CJ,
Costain G,
Santucci M,
Chong K,
Mancini GMS,
Clayton-Smith J,
Bigoni S,
Scheffer IE,
Dobyns WB,
Vilsen B,
Guerrini R;
ATP1A2/A3-collaborators
Brain
2021 Jun 22;144(5):1435-1450.
doi: 10.1093/brain/awab052.
PMID: 33880529
Cacace AT,
Pinheiro JM
Audiol Neurootol
2011;16(6):398-413.
Epub 2011 Jan 22
doi: 10.1159/000323276.
PMID: 21266802
Goloni-Bertollo EM,
Ruiz MT,
Goloni CB,
Muniz MP,
Valério NI,
Pavarino-Bertelli EC
Am J Med Genet A
2008 Jun 15;146A(12):1523-9.
doi: 10.1002/ajmg.a.32157.
PMID: 18470892
Kobayashi K,
Ohno-Matsui K,
Kojima A,
Shimada N,
Yasuzumi K,
Yoshida T,
Futagami S,
Tokoro T,
Mochizuki M
Jpn J Ophthalmol
2005 Jul-Aug;49(4):306-11.
doi: 10.1007/s10384-004-0204-6.
PMID: 16075331