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
Chatterjee S,
Agrawal D,
Agrawal D,
Parchand SM,
Sahu A
Indian J Ophthalmol
2021 Jul;69(7):1753-1757.
doi: 10.4103/ijo.IJO_2916_20.
PMID: 34146021Free PMC Article
Fragiotta S,
Rossi T,
Carnevale C,
Cutini A,
Tricarico S,
Casillo L,
Scuderi G,
Vingolo EM
Graefes Arch Clin Exp Ophthalmol
2019 Oct;257(10):2137-2146.
Epub 2019 Jul 19
doi: 10.1007/s00417-019-04418-8.
PMID: 31324966
Lyraki R,
Megaw R,
Hurd T
Biochem Soc Trans
2016 Oct 15;44(5):1235-1244.
doi: 10.1042/BST20160148.
PMID: 27911705
Wheway G,
Schmidts M,
Mans DA,
Szymanska K,
Nguyen TT,
Racher H,
Phelps IG,
Toedt G,
Kennedy J,
Wunderlich KA,
Sorusch N,
Abdelhamed ZA,
Natarajan S,
Herridge W,
van Reeuwijk J,
Horn N,
Boldt K,
Parry DA,
Letteboer SJF,
Roosing S,
Adams M,
Bell SM,
Bond J,
Higgins J,
Morrison EE,
Tomlinson DC,
Slaats GG,
van Dam TJP,
Huang L,
Kessler K,
Giessl A,
Logan CV,
Boyle EA,
Shendure J,
Anazi S,
Aldahmesh M,
Al Hazzaa S,
Hegele RA,
Ober C,
Frosk P,
Mhanni AA,
Chodirker BN,
Chudley AE,
Lamont R,
Bernier FP,
Beaulieu CL,
Gordon P,
Pon RT,
Donahue C,
Barkovich AJ,
Wolf L,
Toomes C,
Thiel CT,
Boycott KM,
McKibbin M,
Inglehearn CF;
UK10K Consortium;
University of Washington Center for Mendelian Genomics,
Stewart F,
Omran H,
Huynen MA,
Sergouniotis PI,
Alkuraya FS,
Parboosingh JS,
Innes AM,
Willoughby CE,
Giles RH,
Webster AR,
Ueffing M,
Blacque O,
Gleeson JG,
Wolfrum U,
Beales PL,
Gibson T,
Doherty D,
Mitchison HM,
Roepman R,
Johnson CA
Nat Cell Biol
2015 Aug;17(8):1074-1087.
Epub 2015 Jul 13
doi: 10.1038/ncb3201.
PMID: 26167768Free PMC Article
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
Vanden Heuvel C,
Aldred B,
Boulter T,
Sullivan R,
Ver Hoeve J,
Schmitt M
Ophthalmic Genet
2023 Feb;44(1):83-88.
Epub 2022 Jul 26
doi: 10.1080/13816810.2022.2103835.
PMID: 35880649
Vinikoor-Imler LC,
Simpson C,
Narayanan D,
Abbasi S,
Lally C
Ophthalmic Genet
2022 Oct;43(5):581-588.
Epub 2022 Aug 25
doi: 10.1080/13816810.2022.2109686.
PMID: 36004681
Chatterjee S,
Agrawal D,
Agrawal D,
Parchand SM,
Sahu A
Indian J Ophthalmol
2021 Jul;69(7):1753-1757.
doi: 10.4103/ijo.IJO_2916_20.
PMID: 34146021Free PMC Article
Kim YJ,
Kim YN,
Yoon YH,
Seo EJ,
Seo GH,
Keum C,
Lee BH,
Lee JY
Genes (Basel)
2021 Apr 30;12(5)
doi: 10.3390/genes12050675.
PMID: 33946315Free PMC Article
Therapy
Petoe MA,
Titchener SA,
Kolic M,
Kentler WG,
Abbott CJ,
Nayagam DAX,
Baglin EK,
Kvansakul J,
Barnes N,
Walker JG,
Epp SB,
Young KA,
Ayton LN,
Luu CD,
Allen PJ;
Bionics Institute and Centre for Eye Research Australia Retinal Prosthesis Consortium
Transl Vis Sci Technol
2021 Aug 12;10(10):12.
doi: 10.1167/tvst.10.10.12.
PMID: 34581770Free PMC Article
Wood LJ,
Jolly JK,
Josan AS,
Buckley TMW,
MacLaren RE
Transl Vis Sci Technol
2021 Feb 5;10(2):28.
doi: 10.1167/tvst.10.2.28.
PMID: 34003913Free PMC Article
Kuehlewein L,
Zobor D,
Andreasson SO,
Ayuso C,
Banfi S,
Bocquet B,
Bernd AS,
Biskup S,
Boon CJF,
Downes SM,
Fischer MD,
Holz FG,
Kellner U,
Leroy BP,
Meunier I,
Nasser F,
Rosenberg T,
Rudolph G,
Stingl K,
Thiadens AAHJ,
Wilhelm B,
Wissinger B,
Zrenner E,
Kohl S,
Weisschuh N;
RD-CURE Consortium
JAMA Ophthalmol
2020 Dec 1;138(12):1241-1250.
doi: 10.1001/jamaophthalmol.2020.4206.
PMID: 33057649Free PMC Article
Zong Y,
Lin L,
Yi C,
Huang X,
Fu Y,
Dong Y,
Qian X,
Li Y,
Gao Q
Graefes Arch Clin Exp Ophthalmol
2016 Feb;254(2):243-52.
Epub 2015 May 8
doi: 10.1007/s00417-015-3039-6.
PMID: 25952041
Froger N,
Moutsimilli L,
Cadetti L,
Jammoul F,
Wang QP,
Fan Y,
Gaucher D,
Rosolen SG,
Neveux N,
Cynober L,
Sahel JA,
Picaud S
Prog Retin Eye Res
2014 Jul;41:44-63.
Epub 2014 Apr 8
doi: 10.1016/j.preteyeres.2014.03.001.
PMID: 24721186
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
Ruff A,
Tezel A,
Tezel TH
PLoS One
2022;17(10):e0276629.
Epub 2022 Oct 21
doi: 10.1371/journal.pone.0276629.
PMID: 36269735Free PMC Article
Chatterjee S,
Agrawal D,
Agrawal D,
Parchand SM,
Sahu A
Indian J Ophthalmol
2021 Jul;69(7):1753-1757.
doi: 10.4103/ijo.IJO_2916_20.
PMID: 34146021Free PMC Article
Fragiotta S,
Rossi T,
Carnevale C,
Cutini A,
Tricarico S,
Casillo L,
Scuderi G,
Vingolo EM
Graefes Arch Clin Exp Ophthalmol
2019 Oct;257(10):2137-2146.
Epub 2019 Jul 19
doi: 10.1007/s00417-019-04418-8.
PMID: 31324966
North V,
Gelman R,
Tsang SH
Dev Ophthalmol
2014;53:44-52.
Epub 2014 Apr 10
doi: 10.1159/000357293.
PMID: 24732760Free PMC Article
Clinical prediction guides
Lisbjerg K,
Bertelsen M,
Grønskov K,
Kessel L
Ophthalmic Genet
2023 Oct;44(5):456-464.
Epub 2023 Jun 9
doi: 10.1080/13816810.2023.2219732.
PMID: 37293790
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
Vanden Heuvel C,
Aldred B,
Boulter T,
Sullivan R,
Ver Hoeve J,
Schmitt M
Ophthalmic Genet
2023 Feb;44(1):83-88.
Epub 2022 Jul 26
doi: 10.1080/13816810.2022.2103835.
PMID: 35880649
Chatterjee S,
Agrawal D,
Agrawal D,
Parchand SM,
Sahu A
Indian J Ophthalmol
2021 Jul;69(7):1753-1757.
doi: 10.4103/ijo.IJO_2916_20.
PMID: 34146021Free PMC Article
Wheway G,
Schmidts M,
Mans DA,
Szymanska K,
Nguyen TT,
Racher H,
Phelps IG,
Toedt G,
Kennedy J,
Wunderlich KA,
Sorusch N,
Abdelhamed ZA,
Natarajan S,
Herridge W,
van Reeuwijk J,
Horn N,
Boldt K,
Parry DA,
Letteboer SJF,
Roosing S,
Adams M,
Bell SM,
Bond J,
Higgins J,
Morrison EE,
Tomlinson DC,
Slaats GG,
van Dam TJP,
Huang L,
Kessler K,
Giessl A,
Logan CV,
Boyle EA,
Shendure J,
Anazi S,
Aldahmesh M,
Al Hazzaa S,
Hegele RA,
Ober C,
Frosk P,
Mhanni AA,
Chodirker BN,
Chudley AE,
Lamont R,
Bernier FP,
Beaulieu CL,
Gordon P,
Pon RT,
Donahue C,
Barkovich AJ,
Wolf L,
Toomes C,
Thiel CT,
Boycott KM,
McKibbin M,
Inglehearn CF;
UK10K Consortium;
University of Washington Center for Mendelian Genomics,
Stewart F,
Omran H,
Huynen MA,
Sergouniotis PI,
Alkuraya FS,
Parboosingh JS,
Innes AM,
Willoughby CE,
Giles RH,
Webster AR,
Ueffing M,
Blacque O,
Gleeson JG,
Wolfrum U,
Beales PL,
Gibson T,
Doherty D,
Mitchison HM,
Roepman R,
Johnson CA
Nat Cell Biol
2015 Aug;17(8):1074-1087.
Epub 2015 Jul 13
doi: 10.1038/ncb3201.
PMID: 26167768Free PMC Article