Etiology
Heath Jeffery RC,
Lo J,
Thompson JA,
Lamey TM,
McLaren TL,
DeRoach JN,
Kabilio MS,
Chen FK
Ophthalmic Genet
2023 Aug;44(4):352-360.
Epub 2023 Apr 4
doi: 10.1080/13816810.2023.2196338.
PMID: 37013444
Ayton LN,
Barnes N,
Dagnelie G,
Fujikado T,
Goetz G,
Hornig R,
Jones BW,
Muqit MMK,
Rathbun DL,
Stingl K,
Weiland JD,
Petoe MA
Clin Neurophysiol
2020 Jun;131(6):1383-1398.
Epub 2019 Dec 10
doi: 10.1016/j.clinph.2019.11.029.
PMID: 31866339Free PMC Article
Holtan JP,
Teigen K,
Aukrust I,
Bragadóttir R,
Houge G
Ophthalmic Genet
2019 Apr;40(2):124-128.
Epub 2019 Apr 1
doi: 10.1080/13816810.2019.1586965.
PMID: 30932721
Ganetzky RD,
Stendel C,
McCormick EM,
Zolkipli-Cunningham Z,
Goldstein AC,
Klopstock T,
Falk MJ
Hum Mutat
2019 May;40(5):499-515.
Epub 2019 Mar 4
doi: 10.1002/humu.23723.
PMID: 30763462Free PMC Article
Tsang SH,
Aycinena ARP,
Sharma T
Adv Exp Med Biol
2018;1085:167-170.
doi: 10.1007/978-3-319-95046-4_32.
PMID: 30578505
Diagnosis
Heath Jeffery RC,
Lo J,
Thompson JA,
Lamey TM,
McLaren TL,
DeRoach JN,
Kabilio MS,
Chen FK
Ophthalmic Genet
2023 Aug;44(4):352-360.
Epub 2023 Apr 4
doi: 10.1080/13816810.2023.2196338.
PMID: 37013444
Sharon D,
Ben-Yosef T,
Goldenberg-Cohen N,
Pras E,
Gradstein L,
Soudry S,
Mezer E,
Zur D,
Abbasi AH,
Zeitz C,
Cremers FPM,
Khan MI,
Levy J,
Rotenstreich Y,
Birk OS,
Ehrenberg M,
Leibu R,
Newman H,
Shomron N,
Banin E,
Perlman I
Hum Mutat
2020 Jan;41(1):140-149.
Epub 2019 Sep 15
doi: 10.1002/humu.23903.
PMID: 31456290
Creel DJ
Handb Clin Neurol
2019;160:481-493.
doi: 10.1016/B978-0-444-64032-1.00032-1.
PMID: 31277870
Ganetzky RD,
Stendel C,
McCormick EM,
Zolkipli-Cunningham Z,
Goldstein AC,
Klopstock T,
Falk MJ
Hum Mutat
2019 May;40(5):499-515.
Epub 2019 Mar 4
doi: 10.1002/humu.23723.
PMID: 30763462Free PMC Article
Hamel C
Orphanet J Rare Dis
2006 Oct 11;1:40.
doi: 10.1186/1750-1172-1-40.
PMID: 17032466Free PMC Article
Therapy
von Krusenstiern L,
Liu J,
Liao E,
Gow JA,
Chen G,
Ong T,
Lotery AJ,
Jalil A,
Lam BL,
MacLaren RE;
XIRIUS Part 1 Study GroupXOLARIS Study Group
JAMA Ophthalmol
2023 Mar 1;141(3):275-283.
doi: 10.1001/jamaophthalmol.2022.6254.
PMID: 36757689Free PMC Article
Daich Varela M,
Georgiadis A,
Michaelides M
Br J Ophthalmol
2023 Sep;107(9):1223-1230.
Epub 2022 Aug 29
doi: 10.1136/bjo-2022-321903.
PMID: 36038193
Downes SM,
Nguyen T,
Tai V,
Broadgate S,
Shah M,
Al-Khuzaei S,
MacLaren RE,
Shanks M,
Clouston P,
Halford S
Genes (Basel)
2020 Dec 12;11(12)
doi: 10.3390/genes11121497.
PMID: 33322828Free PMC Article
Liu K,
Wang L
Bosn J Basic Med Sci
2019 Nov 8;19(4):321-327.
doi: 10.17305/bjbms.2019.4114.
PMID: 30995901Free PMC Article
Berson EL
Int Ophthalmol Clin
2000 Fall;40(4):93-111.
doi: 10.1097/00004397-200010000-00008.
PMID: 11064860
Prognosis
Heath Jeffery RC,
Lo J,
Thompson JA,
Lamey TM,
McLaren TL,
DeRoach JN,
Kabilio MS,
Chen FK
Ophthalmic Genet
2023 Aug;44(4):352-360.
Epub 2023 Apr 4
doi: 10.1080/13816810.2023.2196338.
PMID: 37013444
Salmaninejad A,
Motaee J,
Farjami M,
Alimardani M,
Esmaeilie A,
Pasdar A
Ophthalmic Genet
2019 Oct;40(5):393-402.
doi: 10.1080/13816810.2019.1675178.
PMID: 31755340
Hamel CP
Orphanet J Rare Dis
2007 Feb 1;2:7.
doi: 10.1186/1750-1172-2-7.
PMID: 17270046Free PMC Article
Hamel C
Orphanet J Rare Dis
2006 Oct 11;1:40.
doi: 10.1186/1750-1172-1-40.
PMID: 17032466Free PMC Article
Wang DY,
Chan WM,
Tam PO,
Chiang SW,
Lam DS,
Chong KK,
Pang CP
Hong Kong Med J
2005 Aug;11(4):281-8.
PMID: 16085945
Clinical prediction guides
Heath Jeffery RC,
Lo J,
Thompson JA,
Lamey TM,
McLaren TL,
DeRoach JN,
Kabilio MS,
Chen FK
Ophthalmic Genet
2023 Aug;44(4):352-360.
Epub 2023 Apr 4
doi: 10.1080/13816810.2023.2196338.
PMID: 37013444
Liu TYA,
Ling C,
Hahn L,
Jones CK,
Boon CJ,
Singh MS
Br J Ophthalmol
2023 Oct;107(10):1484-1489.
Epub 2022 Jul 27
doi: 10.1136/bjo-2021-320897.
PMID: 35896367Free PMC Article
Kim YN,
Song JS,
Oh SH,
Kim YJ,
Yoon YH,
Seo EJ,
Seol CA,
Lee SM,
Choi JM,
Seo GH,
Keum C,
Lee BH,
Lee JY
Sci Rep
2020 Nov 11;10(1):19540.
doi: 10.1038/s41598-020-75902-z.
PMID: 33177553Free PMC Article
Holtan JP,
Teigen K,
Aukrust I,
Bragadóttir R,
Houge G
Ophthalmic Genet
2019 Apr;40(2):124-128.
Epub 2019 Apr 1
doi: 10.1080/13816810.2019.1586965.
PMID: 30932721
Ganetzky RD,
Stendel C,
McCormick EM,
Zolkipli-Cunningham Z,
Goldstein AC,
Klopstock T,
Falk MJ
Hum Mutat
2019 May;40(5):499-515.
Epub 2019 Mar 4
doi: 10.1002/humu.23723.
PMID: 30763462Free PMC Article