Etiology
Cornelis SS,
Runhart EH,
Bauwens M,
Corradi Z,
De Baere E,
Roosing S,
Haer-Wigman L,
Dhaenens CM,
Vulto-van Silfhout AT,
Cremers FPM
Am J Hum Genet
2022 Mar 3;109(3):498-507.
Epub 2022 Feb 3
doi: 10.1016/j.ajhg.2022.01.008.
PMID: 35120629Free PMC Article
Del Pozo-Valero M,
Riveiro-Alvarez R,
Martin-Merida I,
Blanco-Kelly F,
Swafiri S,
Lorda-Sanchez I,
Trujillo-Tiebas MJ,
Carreño E,
Jimenez-Rolando B,
Garcia-Sandoval B,
Corton M,
Avila-Fernandez A,
Ayuso C
Invest Ophthalmol Vis Sci
2022 Feb 1;63(2):11.
doi: 10.1167/iovs.63.2.11.
PMID: 35119454Free PMC Article
Rahman N,
Georgiou M,
Khan KN,
Michaelides M
Br J Ophthalmol
2020 Apr;104(4):451-460.
Epub 2019 Nov 8
doi: 10.1136/bjophthalmol-2019-315086.
PMID: 31704701Free PMC Article
Zernant J,
Lee W,
Collison FT,
Fishman GA,
Sergeev YV,
Schuerch K,
Sparrow JR,
Tsang SH,
Allikmets R
J Med Genet
2017 Jun;54(6):404-412.
Epub 2017 Apr 26
doi: 10.1136/jmedgenet-2017-104540.
PMID: 28446513Free PMC Article
Schulz HL,
Grassmann F,
Kellner U,
Spital G,
Rüther K,
Jägle H,
Hufendiek K,
Rating P,
Huchzermeyer C,
Baier MJ,
Weber BH,
Stöhr H
Invest Ophthalmol Vis Sci
2017 Jan 1;58(1):394-403.
doi: 10.1167/iovs.16-19936.
PMID: 28118664Free PMC Article
Diagnosis
Del Pozo-Valero M,
Riveiro-Alvarez R,
Martin-Merida I,
Blanco-Kelly F,
Swafiri S,
Lorda-Sanchez I,
Trujillo-Tiebas MJ,
Carreño E,
Jimenez-Rolando B,
Garcia-Sandoval B,
Corton M,
Avila-Fernandez A,
Ayuso C
Invest Ophthalmol Vis Sci
2022 Feb 1;63(2):11.
doi: 10.1167/iovs.63.2.11.
PMID: 35119454Free PMC Article
Ricca AM,
Han IC,
Sohn EH
Curr Opin Ophthalmol
2021 May 1;32(3):214-224.
doi: 10.1097/ICU.0000000000000750.
PMID: 33653979
Rahman N,
Georgiou M,
Khan KN,
Michaelides M
Br J Ophthalmol
2020 Apr;104(4):451-460.
Epub 2019 Nov 8
doi: 10.1136/bjophthalmol-2019-315086.
PMID: 31704701Free PMC Article
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
Altschwager P,
Ambrosio L,
Swanson EA,
Moskowitz A,
Fulton AB
Semin Pediatr Neurol
2017 May;24(2):104-109.
Epub 2017 May 23
doi: 10.1016/j.spen.2017.05.005.
PMID: 28941524Free PMC Article
Therapy
DeBoer CMT,
Agrawal R,
Rahimy E
Curr Opin Ophthalmol
2023 May 1;34(3):203-210.
Epub 2023 Mar 20
doi: 10.1097/ICU.0000000000000948.
PMID: 36943473Free PMC Article
Huang D,
Heath Jeffery RC,
Aung-Htut MT,
McLenachan S,
Fletcher S,
Wilton SD,
Chen FK
Ophthalmic Genet
2022 Feb;43(1):1-26.
Epub 2021 Aug 29
doi: 10.1080/13816810.2021.1966053.
PMID: 34455905
Piotter E,
McClements ME,
MacLaren RE
Biomolecules
2021 Aug 9;11(8)
doi: 10.3390/biom11081179.
PMID: 34439845Free PMC Article
Parodi MB,
Iacono P,
Da Pozzo S
Curr Drug Targets
2020;21(12):1201-1207.
doi: 10.2174/1389450121666200428103334.
PMID: 32342816
Rahman N,
Georgiou M,
Khan KN,
Michaelides M
Br J Ophthalmol
2020 Apr;104(4):451-460.
Epub 2019 Nov 8
doi: 10.1136/bjophthalmol-2019-315086.
PMID: 31704701Free PMC Article
Prognosis
Molday RS,
Garces FA,
Scortecci JF,
Molday LL
Prog Retin Eye Res
2022 Jul;89:101036.
Epub 2021 Dec 23
doi: 10.1016/j.preteyeres.2021.101036.
PMID: 34954332
Huang D,
Heath Jeffery RC,
Aung-Htut MT,
McLenachan S,
Fletcher S,
Wilton SD,
Chen FK
Ophthalmic Genet
2022 Feb;43(1):1-26.
Epub 2021 Aug 29
doi: 10.1080/13816810.2021.1966053.
PMID: 34455905
Piotter E,
McClements ME,
MacLaren RE
Biomolecules
2021 Aug 9;11(8)
doi: 10.3390/biom11081179.
PMID: 34439845Free PMC Article
Tsang SH,
Sharma T
Adv Exp Med Biol
2018;1085:139-151.
doi: 10.1007/978-3-319-95046-4_27.
PMID: 30578500
Schulz HL,
Grassmann F,
Kellner U,
Spital G,
Rüther K,
Jägle H,
Hufendiek K,
Rating P,
Huchzermeyer C,
Baier MJ,
Weber BH,
Stöhr H
Invest Ophthalmol Vis Sci
2017 Jan 1;58(1):394-403.
doi: 10.1167/iovs.16-19936.
PMID: 28118664Free PMC Article
Clinical prediction guides
Cornelis SS,
Runhart EH,
Bauwens M,
Corradi Z,
De Baere E,
Roosing S,
Haer-Wigman L,
Dhaenens CM,
Vulto-van Silfhout AT,
Cremers FPM
Am J Hum Genet
2022 Mar 3;109(3):498-507.
Epub 2022 Feb 3
doi: 10.1016/j.ajhg.2022.01.008.
PMID: 35120629Free PMC Article
Molday RS,
Garces FA,
Scortecci JF,
Molday LL
Prog Retin Eye Res
2022 Jul;89:101036.
Epub 2021 Dec 23
doi: 10.1016/j.preteyeres.2021.101036.
PMID: 34954332
Huang D,
Heath Jeffery RC,
Aung-Htut MT,
McLenachan S,
Fletcher S,
Wilton SD,
Chen FK
Ophthalmic Genet
2022 Feb;43(1):1-26.
Epub 2021 Aug 29
doi: 10.1080/13816810.2021.1966053.
PMID: 34455905
Fujinami K,
Strauss RW,
Chiang JP,
Audo IS,
Bernstein PS,
Birch DG,
Bomotti SM,
Cideciyan AV,
Ervin AM,
Marino MJ,
Sahel JA,
Mohand-Said S,
Sunness JS,
Traboulsi EI,
West S,
Wojciechowski R,
Zrenner E,
Michaelides M,
Scholl HPN;
ProgStar Study Group;
ProgStar Study Group
Br J Ophthalmol
2019 Mar;103(3):390-397.
Epub 2018 Jun 20
doi: 10.1136/bjophthalmol-2018-312064.
PMID: 29925512Free PMC Article
Schulz HL,
Grassmann F,
Kellner U,
Spital G,
Rüther K,
Jägle H,
Hufendiek K,
Rating P,
Huchzermeyer C,
Baier MJ,
Weber BH,
Stöhr H
Invest Ophthalmol Vis Sci
2017 Jan 1;58(1):394-403.
doi: 10.1167/iovs.16-19936.
PMID: 28118664Free PMC Article