Etiology
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
Ferri P,
Abeshi A,
Bertelli M,
Rossetti L
Invest Ophthalmol Vis Sci
2021 Feb 1;62(2):13.
doi: 10.1167/iovs.62.2.13.
PMID: 33576794Free PMC Article
Zhu T,
Chen DF,
Wang L,
Wu S,
Wei X,
Li H,
Jin ZB,
Sui R
Br J Ophthalmol
2021 May;105(5):694-703.
Epub 2020 Jul 16
doi: 10.1136/bjophthalmol-2019-315786.
PMID: 32675063
Meng D,
Ragi SD,
Tsang SH
Mol Ther
2020 Oct 7;28(10):2139-2149.
Epub 2020 Aug 25
doi: 10.1016/j.ymthe.2020.08.012.
PMID: 32882181Free 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
Martin-Merida I,
Avila-Fernandez A,
Del Pozo-Valero M,
Blanco-Kelly F,
Zurita O,
Perez-Carro R,
Aguilera-Garcia D,
Riveiro-Alvarez R,
Arteche A,
Trujillo-Tiebas MJ,
Tahsin-Swafiri S,
Rodriguez-Pinilla E,
Lorda-Sanchez I,
Garcia-Sandoval B,
Corton M,
Ayuso C
Ophthalmology
2019 Aug;126(8):1181-1188.
Epub 2019 Mar 20
doi: 10.1016/j.ophtha.2019.03.018.
PMID: 30902645
Diagnosis
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
Ferri P,
Abeshi A,
Bertelli M,
Rossetti L
Invest Ophthalmol Vis Sci
2021 Feb 1;62(2):13.
doi: 10.1167/iovs.62.2.13.
PMID: 33576794Free PMC Article
De Silva SR,
Arno G,
Robson AG,
Fakin A,
Pontikos N,
Mohamed MD,
Bird AC,
Moore AT,
Michaelides M,
Webster AR,
Mahroo OA
Prog Retin Eye Res
2021 May;82:100898.
Epub 2020 Aug 26
doi: 10.1016/j.preteyeres.2020.100898.
PMID: 32860923
Koyanagi Y,
Akiyama M,
Nishiguchi KM,
Momozawa Y,
Kamatani Y,
Takata S,
Inai C,
Iwasaki Y,
Kumano M,
Murakami Y,
Omodaka K,
Abe T,
Komori S,
Gao D,
Hirakata T,
Kurata K,
Hosono K,
Ueno S,
Hotta Y,
Murakami A,
Terasaki H,
Wada Y,
Nakazawa T,
Ishibashi T,
Ikeda Y,
Kubo M,
Sonoda KH
J Med Genet
2019 Oct;56(10):662-670.
Epub 2019 Jun 17
doi: 10.1136/jmedgenet-2018-105691.
PMID: 31213501
Martin-Merida I,
Avila-Fernandez A,
Del Pozo-Valero M,
Blanco-Kelly F,
Zurita O,
Perez-Carro R,
Aguilera-Garcia D,
Riveiro-Alvarez R,
Arteche A,
Trujillo-Tiebas MJ,
Tahsin-Swafiri S,
Rodriguez-Pinilla E,
Lorda-Sanchez I,
Garcia-Sandoval B,
Corton M,
Ayuso C
Ophthalmology
2019 Aug;126(8):1181-1188.
Epub 2019 Mar 20
doi: 10.1016/j.ophtha.2019.03.018.
PMID: 30902645
Hamel C
Orphanet J Rare Dis
2006 Oct 11;1:40.
doi: 10.1186/1750-1172-1-40.
PMID: 17032466Free PMC Article
Therapy
Justin GA,
Girach A,
Maldonado RS
Curr Opin Ophthalmol
2023 May 1;34(3):226-231.
Epub 2023 Mar 14
doi: 10.1097/ICU.0000000000000947.
PMID: 36924362
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
Kiang AS,
Kenna PF,
Humphries MM,
Ozaki E,
Koenekoop RK,
Campbell M,
Farrar GJ,
Humphries P
Genes (Basel)
2020 Nov 27;11(12)
doi: 10.3390/genes11121420.
PMID: 33261050Free PMC Article
Gragg M,
Park PS
Biochim Biophys Acta Mol Basis Dis
2018 Sep;1864(9 Pt B):2938-2948.
Epub 2018 Jun 8
doi: 10.1016/j.bbadis.2018.06.004.
PMID: 29890221Free PMC Article
Athanasiou D,
Aguila M,
Bellingham J,
Li W,
McCulley C,
Reeves PJ,
Cheetham ME
Prog Retin Eye Res
2018 Jan;62:1-23.
Epub 2017 Oct 16
doi: 10.1016/j.preteyeres.2017.10.002.
PMID: 29042326Free PMC Article
Prognosis
Kim AH,
Liu PK,
Chang YH,
Kang EY,
Wang HH,
Chen N,
Tseng YJ,
Seo GH,
Lee H,
Liu L,
Chao AN,
Chen KJ,
Hwang YS,
Wu WC,
Lai CC,
Tsang SH,
Hsiao MC,
Wang NK
Int J Mol Sci
2022 Nov 29;23(23)
doi: 10.3390/ijms232314965.
PMID: 36499293Free PMC Article
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
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
Ferri P,
Abeshi A,
Bertelli M,
Rossetti L
Invest Ophthalmol Vis Sci
2021 Feb 1;62(2):13.
doi: 10.1167/iovs.62.2.13.
PMID: 33576794Free PMC Article
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
Clinical prediction guides
Kim AH,
Liu PK,
Chang YH,
Kang EY,
Wang HH,
Chen N,
Tseng YJ,
Seo GH,
Lee H,
Liu L,
Chao AN,
Chen KJ,
Hwang YS,
Wu WC,
Lai CC,
Tsang SH,
Hsiao MC,
Wang NK
Int J Mol Sci
2022 Nov 29;23(23)
doi: 10.3390/ijms232314965.
PMID: 36499293Free PMC Article
Pezzella N,
Bove G,
Tammaro R,
Franco B
Am J Med Genet C Semin Med Genet
2022 Mar;190(1):57-71.
Epub 2022 Feb 2
doi: 10.1002/ajmg.c.31962.
PMID: 35112477Free 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
Hafler BP,
Comander J,
Weigel DiFranco C,
Place EM,
Pierce EA
Semin Ophthalmol
2016;31(1-2):49-52.
doi: 10.3109/08820538.2015.1114856.
PMID: 26959129Free 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