Etiology
Georgiou M,
Robson AG,
Jovanovic K,
Guimarães TAC,
Ali N,
Pontikos N,
Uwaydat SH,
Mahroo OA,
Cheetham ME,
Webster AR,
Hardcastle AJ,
Michaelides M
Ophthalmology
2023 Apr;130(4):413-422.
Epub 2022 Nov 22
doi: 10.1016/j.ophtha.2022.11.015.
PMID: 36423731Free PMC Article
Xu K,
Xie Y,
Sun T,
Zhang X,
Chen C,
Li Y
Br J Ophthalmol
2020 Jul;104(7):932-937.
Epub 2019 Oct 19
doi: 10.1136/bjophthalmol-2019-314281.
PMID: 31630094
Verbakel SK,
van Huet RAC,
Boon CJF,
den Hollander AI,
Collin RWJ,
Klaver CCW,
Hoyng CB,
Roepman R,
Klevering BJ
Prog Retin Eye Res
2018 Sep;66:157-186.
Epub 2018 Mar 27
doi: 10.1016/j.preteyeres.2018.03.005.
PMID: 29597005
Birtel J,
Eisenberger T,
Gliem M,
Müller PL,
Herrmann P,
Betz C,
Zahnleiter D,
Neuhaus C,
Lenzner S,
Holz FG,
Mangold E,
Bolz HJ,
Charbel Issa P
Sci Rep
2018 Mar 19;8(1):4824.
doi: 10.1038/s41598-018-22096-0.
PMID: 29555955Free PMC Article
Hamel CP
Orphanet J Rare Dis
2007 Feb 1;2:7.
doi: 10.1186/1750-1172-2-7.
PMID: 17270046Free PMC Article
Diagnosis
Huryn LA,
Kozycki CT,
Serpen JY,
Zein WM,
Ullah E,
Iannaccone A,
Williams LB,
Sobrin L,
Brooks BP,
Sen HN,
Hufnagel RB,
Kastner DL,
Kodati S
Ophthalmology
2023 Apr;130(4):423-432.
Epub 2022 Nov 2
doi: 10.1016/j.ophtha.2022.10.026.
PMID: 36332842Free PMC Article
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
Verbakel SK,
van Huet RAC,
Boon CJF,
den Hollander AI,
Collin RWJ,
Klaver CCW,
Hoyng CB,
Roepman R,
Klevering BJ
Prog Retin Eye Res
2018 Sep;66:157-186.
Epub 2018 Mar 27
doi: 10.1016/j.preteyeres.2018.03.005.
PMID: 29597005
Birtel J,
Eisenberger T,
Gliem M,
Müller PL,
Herrmann P,
Betz C,
Zahnleiter D,
Neuhaus C,
Lenzner S,
Holz FG,
Mangold E,
Bolz HJ,
Charbel Issa P
Sci Rep
2018 Mar 19;8(1):4824.
doi: 10.1038/s41598-018-22096-0.
PMID: 29555955Free PMC Article
Hamel CP
Orphanet J Rare Dis
2007 Feb 1;2:7.
doi: 10.1186/1750-1172-2-7.
PMID: 17270046Free PMC Article
Therapy
Hassall MM,
McClements ME,
Barnard AR,
Patricio MÍ,
Aslam SA,
Maclaren RE
Int J Mol Sci
2020 Aug 22;21(17)
doi: 10.3390/ijms21176055.
PMID: 32842706Free PMC Article
Warwick AN,
Shawkat F,
Lotery AJ
Ophthalmic Genet
2017 Mar-Apr;38(2):178-182.
Epub 2016 May 13
doi: 10.1080/13816810.2016.1183215.
PMID: 27176872
Galli-Resta L,
Falsini B,
Rossi G,
Piccardi M,
Ziccardi L,
Fadda A,
Minnella A,
Marangoni D,
Placidi G,
Campagna F,
Abed E,
Bertelli M,
Zuntini M,
Resta G
Invest Ophthalmol Vis Sci
2016 Jul 1;57(8):3759-68.
doi: 10.1167/iovs.15-18313.
PMID: 27415794
Lhériteau E,
Petit L,
Weber M,
Le Meur G,
Deschamps JY,
Libeau L,
Mendes-Madeira A,
Guihal C,
François A,
Guyon R,
Provost N,
Lemoine F,
Papal S,
El-Amraoui A,
Colle MA,
Moullier P,
Rolling F
Mol Ther
2014 Feb;22(2):265-277.
Epub 2013 Oct 4
doi: 10.1038/mt.2013.232.
PMID: 24091916Free PMC Article
Hufnagel RB,
Ahmed ZM,
Corrêa ZM,
Sisk RA
Graefes Arch Clin Exp Ophthalmol
2012 Aug;250(8):1117-28.
Epub 2012 May 29
doi: 10.1007/s00417-012-2028-2.
PMID: 22644094Free PMC Article
Prognosis
Georgiou M,
Robson AG,
Jovanovic K,
Guimarães TAC,
Ali N,
Pontikos N,
Uwaydat SH,
Mahroo OA,
Cheetham ME,
Webster AR,
Hardcastle AJ,
Michaelides M
Ophthalmology
2023 Apr;130(4):413-422.
Epub 2022 Nov 22
doi: 10.1016/j.ophtha.2022.11.015.
PMID: 36423731Free PMC Article
Malechka VV,
Cukras CA,
Chew EY,
Sergeev YV,
Blain D,
Jeffrey BG,
Ullah E,
Hufnagel RB,
Brooks BP,
Huryn LA,
Zein WM
Genes (Basel)
2022 May 22;13(5)
doi: 10.3390/genes13050925.
PMID: 35627310Free PMC Article
Birtel J,
Eisenberger T,
Gliem M,
Müller PL,
Herrmann P,
Betz C,
Zahnleiter D,
Neuhaus C,
Lenzner S,
Holz FG,
Mangold E,
Bolz HJ,
Charbel Issa P
Sci Rep
2018 Mar 19;8(1):4824.
doi: 10.1038/s41598-018-22096-0.
PMID: 29555955Free PMC Article
Werdich XQ,
Place EM,
Pierce EA
Semin Ophthalmol
2014 Sep-Nov;29(5-6):319-28.
doi: 10.3109/08820538.2014.959202.
PMID: 25325857
Hamel CP
Orphanet J Rare Dis
2007 Feb 1;2:7.
doi: 10.1186/1750-1172-2-7.
PMID: 17270046Free PMC Article
Clinical prediction guides
Georgiou M,
Robson AG,
Jovanovic K,
Guimarães TAC,
Ali N,
Pontikos N,
Uwaydat SH,
Mahroo OA,
Cheetham ME,
Webster AR,
Hardcastle AJ,
Michaelides M
Ophthalmology
2023 Apr;130(4):413-422.
Epub 2022 Nov 22
doi: 10.1016/j.ophtha.2022.11.015.
PMID: 36423731Free PMC Article
Huryn LA,
Kozycki CT,
Serpen JY,
Zein WM,
Ullah E,
Iannaccone A,
Williams LB,
Sobrin L,
Brooks BP,
Sen HN,
Hufnagel RB,
Kastner DL,
Kodati S
Ophthalmology
2023 Apr;130(4):423-432.
Epub 2022 Nov 2
doi: 10.1016/j.ophtha.2022.10.026.
PMID: 36332842Free PMC Article
Malechka VV,
Cukras CA,
Chew EY,
Sergeev YV,
Blain D,
Jeffrey BG,
Ullah E,
Hufnagel RB,
Brooks BP,
Huryn LA,
Zein WM
Genes (Basel)
2022 May 22;13(5)
doi: 10.3390/genes13050925.
PMID: 35627310Free PMC Article
Smirnov V,
Grunewald O,
Muller J,
Zeitz C,
Obermaier CD,
Devos A,
Pelletier V,
Bocquet B,
Andrieu C,
Bacquet JL,
Lebredonchel E,
Mohand-Saïd S,
Defoort-Dhellemmes S,
Sahel JA,
Dollfus H,
Zanlonghi X,
Audo I,
Meunier I,
Boulanger-Scemama E,
Dhaenens CM
Int J Mol Sci
2021 Jun 15;22(12)
doi: 10.3390/ijms22126410.
PMID: 34203883Free PMC Article
Abad-Morales V,
Burés-Jelstrup A,
Navarro R,
Ruiz-Nogales S,
Méndez-Vendrell P,
Corcóstegui B,
Pomares E
Exp Eye Res
2019 Oct;187:107752.
Epub 2019 Aug 5
doi: 10.1016/j.exer.2019.107752.
PMID: 31394102