Etiology
Katta M,
de Guimaraes TAC,
Fujinami-Yokokawa Y,
Fujinami K,
Georgiou M,
Mahroo OA,
Webster AR,
Michaelides M
Ophthalmol Retina
2024 Sep;8(9):932-941.
Epub 2024 Mar 24
doi: 10.1016/j.oret.2024.03.017.
PMID: 38522615
Tsang SH,
Sharma T
Adv Exp Med Biol
2018;1085:119-123.
doi: 10.1007/978-3-319-95046-4_24.
PMID: 30578497
Langlo CS,
Patterson EJ,
Higgins BP,
Summerfelt P,
Razeen MM,
Erker LR,
Parker M,
Collison FT,
Fishman GA,
Kay CN,
Zhang J,
Weleber RG,
Yang P,
Wilson DJ,
Pennesi ME,
Lam BL,
Chiang J,
Chulay JD,
Dubra A,
Hauswirth WW,
Carroll J;
ACHM-001 Study Group
Invest Ophthalmol Vis Sci
2016 Aug 1;57(10):3984-95.
doi: 10.1167/iovs.16-19313.
PMID: 27479814Free PMC Article
Grønskov K,
Ek J,
Brondum-Nielsen K
Orphanet J Rare Dis
2007 Nov 2;2:43.
doi: 10.1186/1750-1172-2-43.
PMID: 17980020Free PMC Article
Rodríguez-Soriano J,
Vallo A,
García-Fuentes M
Pediatr Nephrol
1987 Jul;1(3):465-72.
doi: 10.1007/BF00849255.
PMID: 3153319
Diagnosis
Katta M,
de Guimaraes TAC,
Fujinami-Yokokawa Y,
Fujinami K,
Georgiou M,
Mahroo OA,
Webster AR,
Michaelides M
Ophthalmol Retina
2024 Sep;8(9):932-941.
Epub 2024 Mar 24
doi: 10.1016/j.oret.2024.03.017.
PMID: 38522615
de Freitas JL,
Rezende Filho FM,
Sallum JMF,
França MC Jr,
Pedroso JL,
Barsottini OGP
J Neurol Sci
2020 Feb 15;409:116620.
Epub 2019 Dec 6
doi: 10.1016/j.jns.2019.116620.
PMID: 31865189
Tsang SH,
Aycinena ARP,
Sharma T
Adv Exp Med Biol
2018;1085:179-180.
doi: 10.1007/978-3-319-95046-4_35.
PMID: 30578508
Brooks BP,
Thompson AH,
Clayton JA,
Chan CC,
Tamura D,
Zein WM,
Blain D,
Hadsall C,
Rowan J,
Bowles KE,
Khan SG,
Ueda T,
Boyle J,
Oh KS,
DiGiovanna JJ,
Kraemer KH
Ophthalmology
2011 Dec;118(12):2335-42.
Epub 2011 Sep 28
doi: 10.1016/j.ophtha.2011.05.036.
PMID: 21959366Free PMC Article
Grønskov K,
Ek J,
Brondum-Nielsen K
Orphanet J Rare Dis
2007 Nov 2;2:43.
doi: 10.1186/1750-1172-2-43.
PMID: 17980020Free PMC Article
Therapy
Li X,
Cheng Q,
Ding Y,
Li Q,
Yao R,
Wang J,
Wang X
BMC Pediatr
2019 Jul 11;19(1):233.
doi: 10.1186/s12887-019-1608-2.
PMID: 31296181Free PMC Article
Zelinger L,
Cideciyan AV,
Kohl S,
Schwartz SB,
Rosenmann A,
Eli D,
Sumaroka A,
Roman AJ,
Luo X,
Brown C,
Rosin B,
Blumenfeld A,
Wissinger B,
Jacobson SG,
Banin E,
Sharon D
Ophthalmology
2015 May;122(5):997-1007.
Epub 2015 Jan 21
doi: 10.1016/j.ophtha.2014.11.025.
PMID: 25616768
Bosley TM,
Salih MA,
Alorainy IA,
Islam MZ,
Oystreck DT,
Suliman OS,
al Malki S,
Suhaibani AH,
Khiari H,
Beckers S,
van Wesenbeeck L,
Perdu B,
AlDrees A,
Elmalik SA,
Van Hul W,
Abu-Amero KK
Brain
2011 Dec;134(Pt 12):3502-15.
Epub 2011 Nov 26
doi: 10.1093/brain/awr302.
PMID: 22120147
Prognosis
Katta M,
de Guimaraes TAC,
Fujinami-Yokokawa Y,
Fujinami K,
Georgiou M,
Mahroo OA,
Webster AR,
Michaelides M
Ophthalmol Retina
2024 Sep;8(9):932-941.
Epub 2024 Mar 24
doi: 10.1016/j.oret.2024.03.017.
PMID: 38522615
Eshel YM,
Abaev O,
Yahalom C
Eur J Ophthalmol
2024 Jul;34(4):986-991.
Epub 2023 Nov 3
doi: 10.1177/11206721231212768.
PMID: 37920903Free PMC Article
Tsang SH,
Sharma T
Adv Exp Med Biol
2018;1085:131-137.
doi: 10.1007/978-3-319-95046-4_26.
PMID: 30578499
Brooks BP,
Thompson AH,
Clayton JA,
Chan CC,
Tamura D,
Zein WM,
Blain D,
Hadsall C,
Rowan J,
Bowles KE,
Khan SG,
Ueda T,
Boyle J,
Oh KS,
DiGiovanna JJ,
Kraemer KH
Ophthalmology
2011 Dec;118(12):2335-42.
Epub 2011 Sep 28
doi: 10.1016/j.ophtha.2011.05.036.
PMID: 21959366Free PMC Article
Desir J,
Abramowicz M
Orphanet J Rare Dis
2008 Oct 15;3:28.
doi: 10.1186/1750-1172-3-28.
PMID: 18922146Free PMC Article
Clinical prediction guides
de Freitas JL,
Rezende Filho FM,
Sallum JMF,
França MC Jr,
Pedroso JL,
Barsottini OGP
J Neurol Sci
2020 Feb 15;409:116620.
Epub 2019 Dec 6
doi: 10.1016/j.jns.2019.116620.
PMID: 31865189
Zou X,
Fu Q,
Fang S,
Li H,
Ge Z,
Yang L,
Xu M,
Sun Z,
Li H,
Li Y,
Dong F,
Chen R,
Sui R
Retina
2019 Oct;39(10):2040-2052.
doi: 10.1097/IAE.0000000000002242.
PMID: 30134391
Tsang SH,
Sharma T
Adv Exp Med Biol
2018;1085:119-123.
doi: 10.1007/978-3-319-95046-4_24.
PMID: 30578497
Naeem MA,
Chavali VR,
Ali S,
Iqbal M,
Riazuddin S,
Khan SN,
Husnain T,
Sieving PA,
Ayyagari R,
Riazuddin S,
Hejtmancik JF,
Riazuddin SA
Invest Ophthalmol Vis Sci
2012 Mar;53(3):1353-61.
Epub 2012 Mar 13
doi: 10.1167/iovs.11-8026.
PMID: 22190596Free PMC Article
Rodríguez-Soriano J,
Vallo A,
García-Fuentes M
Pediatr Nephrol
1987 Jul;1(3):465-72.
doi: 10.1007/BF00849255.
PMID: 3153319