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
Georgiou M,
Grewal PS,
Narayan A,
Alser M,
Ali N,
Fujinami K,
Webster AR,
Michaelides M
Am J Ophthalmol
2021 Jan;221:299-310.
Epub 2020 Aug 12
doi: 10.1016/j.ajo.2020.08.004.
PMID: 32795431Free 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
Fischer MD,
Michalakis S,
Wilhelm B,
Zobor D,
Muehlfriedel R,
Kohl S,
Weisschuh N,
Ochakovski GA,
Klein R,
Schoen C,
Sothilingam V,
Garcia-Garrido M,
Kuehlewein L,
Kahle N,
Werner A,
Dauletbekov D,
Paquet-Durand F,
Tsang S,
Martus P,
Peters T,
Seeliger M,
Bartz-Schmidt KU,
Ueffing M,
Zrenner E,
Biel M,
Wissinger B
JAMA Ophthalmol
2020 Jun 1;138(6):643-651.
doi: 10.1001/jamaophthalmol.2020.1032.
PMID: 32352493Free 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
Wang DD,
Gao FJ,
Hu FY,
Cao WJ,
Xu P,
Huang Y,
Sun XH,
Wu JH
Curr Eye Res
2022 Sep;47(9):1339-1345.
Epub 2022 Aug 3
doi: 10.1080/02713683.2022.2085303.
PMID: 35924323
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
Georgiou M,
Grewal PS,
Narayan A,
Alser M,
Ali N,
Fujinami K,
Webster AR,
Michaelides M
Am J Ophthalmol
2021 Jan;221:299-310.
Epub 2020 Aug 12
doi: 10.1016/j.ajo.2020.08.004.
PMID: 32795431Free PMC Article
Fischer MD,
Michalakis S,
Wilhelm B,
Zobor D,
Muehlfriedel R,
Kohl S,
Weisschuh N,
Ochakovski GA,
Klein R,
Schoen C,
Sothilingam V,
Garcia-Garrido M,
Kuehlewein L,
Kahle N,
Werner A,
Dauletbekov D,
Paquet-Durand F,
Tsang S,
Martus P,
Peters T,
Seeliger M,
Bartz-Schmidt KU,
Ueffing M,
Zrenner E,
Biel M,
Wissinger B
JAMA Ophthalmol
2020 Jun 1;138(6):643-651.
doi: 10.1001/jamaophthalmol.2020.1032.
PMID: 32352493Free PMC Article
Therapy
Fischer MD,
Michalakis S,
Wilhelm B,
Zobor D,
Muehlfriedel R,
Kohl S,
Weisschuh N,
Ochakovski GA,
Klein R,
Schoen C,
Sothilingam V,
Garcia-Garrido M,
Kuehlewein L,
Kahle N,
Werner A,
Dauletbekov D,
Paquet-Durand F,
Tsang S,
Martus P,
Peters T,
Seeliger M,
Bartz-Schmidt KU,
Ueffing M,
Zrenner E,
Biel M,
Wissinger B
JAMA Ophthalmol
2020 Jun 1;138(6):643-651.
doi: 10.1001/jamaophthalmol.2020.1032.
PMID: 32352493Free PMC Article
Özmert E,
Arslan U
Stem Cell Res Ther
2020 Jan 13;11(1):25.
doi: 10.1186/s13287-020-1549-6.
PMID: 31931872Free PMC Article
Peddada KV,
Brown A,
Verma V,
Nebbioso M
Int Ophthalmol
2019 Mar;39(3):725-734.
Epub 2018 Feb 5
doi: 10.1007/s10792-018-0845-y.
PMID: 29404861
Miraldi Utz V,
Coussa RG,
Antaki F,
Traboulsi EI
Ophthalmic Genet
2018 Dec;39(6):671-677.
Epub 2018 Oct 18
doi: 10.1080/13816810.2018.1533027.
PMID: 30335549
Zhang X,
Tohari AM,
Marcheggiani F,
Zhou X,
Reilly J,
Tiano L,
Shu X
Curr Med Chem
2017;24(39):4329-4339.
doi: 10.2174/0929867324666170801100516.
PMID: 28762311
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
Feenstra HM,
Al-Khuzaei S,
Shah M,
Broadgate S,
Shanks M,
Kamath A,
Yu J,
Jolly JK,
MacLaren RE,
Clouston P,
Halford S,
Downes SM
Genes (Basel)
2022 Aug 10;13(8)
doi: 10.3390/genes13081423.
PMID: 36011334Free 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
Georgiou M,
Grewal PS,
Narayan A,
Alser M,
Ali N,
Fujinami K,
Webster AR,
Michaelides M
Am J Ophthalmol
2021 Jan;221:299-310.
Epub 2020 Aug 12
doi: 10.1016/j.ajo.2020.08.004.
PMID: 32795431Free PMC Article
Fischer MD,
Michalakis S,
Wilhelm B,
Zobor D,
Muehlfriedel R,
Kohl S,
Weisschuh N,
Ochakovski GA,
Klein R,
Schoen C,
Sothilingam V,
Garcia-Garrido M,
Kuehlewein L,
Kahle N,
Werner A,
Dauletbekov D,
Paquet-Durand F,
Tsang S,
Martus P,
Peters T,
Seeliger M,
Bartz-Schmidt KU,
Ueffing M,
Zrenner E,
Biel M,
Wissinger B
JAMA Ophthalmol
2020 Jun 1;138(6):643-651.
doi: 10.1001/jamaophthalmol.2020.1032.
PMID: 32352493Free PMC Article
Clinical prediction guides
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
Fischer MD,
Michalakis S,
Wilhelm B,
Zobor D,
Muehlfriedel R,
Kohl S,
Weisschuh N,
Ochakovski GA,
Klein R,
Schoen C,
Sothilingam V,
Garcia-Garrido M,
Kuehlewein L,
Kahle N,
Werner A,
Dauletbekov D,
Paquet-Durand F,
Tsang S,
Martus P,
Peters T,
Seeliger M,
Bartz-Schmidt KU,
Ueffing M,
Zrenner E,
Biel M,
Wissinger B
JAMA Ophthalmol
2020 Jun 1;138(6):643-651.
doi: 10.1001/jamaophthalmol.2020.1032.
PMID: 32352493Free PMC Article
Özmert E,
Arslan U
Stem Cell Res Ther
2020 Jan 13;11(1):25.
doi: 10.1186/s13287-020-1549-6.
PMID: 31931872Free PMC Article
Kimchi A,
Khateb S,
Wen R,
Guan Z,
Obolensky A,
Beryozkin A,
Kurtzman S,
Blumenfeld A,
Pras E,
Jacobson SG,
Ben-Yosef T,
Newman H,
Sharon D,
Banin E
Ophthalmology
2018 May;125(5):725-734.
Epub 2017 Dec 22
doi: 10.1016/j.ophtha.2017.11.014.
PMID: 29276052