Etiology
Rodriguez-Martinez AC,
Higgins BE,
Tailor-Hamblin V,
Malka S,
Cheloni R,
Collins AM,
Bladen J,
Henderson R,
Moosajee M
Int J Mol Sci
2023 Sep 11;24(18)
doi: 10.3390/ijms241813932.
PMID: 37762234Free PMC Article
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
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
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
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
Therapy
Schwartz SG,
Wang X,
Chavis P,
Kuriyan AE,
Abariga SA
Cochrane Database Syst Rev
2020 Jun 18;6(6):CD008428.
doi: 10.1002/14651858.CD008428.pub3.
PMID: 32573764Free 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
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
Nguyen XT,
Thiadens AAHJ,
Fiocco M,
Tan W,
McKibbin M,
Klaver CCW,
Meester-Smoor MA,
Van Cauwenbergh C,
Strubbe I,
Vergaro A,
Pott JR,
Hoyng CB,
Leroy BP,
Zemaitiene R,
Khan KN,
Boon CJF
Am J Ophthalmol
2023 Feb;246:1-9.
Epub 2022 Oct 15
doi: 10.1016/j.ajo.2022.10.001.
PMID: 36252678
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
Rodriguez-Martinez AC,
Higgins BE,
Tailor-Hamblin V,
Malka S,
Cheloni R,
Collins AM,
Bladen J,
Henderson R,
Moosajee M
Int J Mol Sci
2023 Sep 11;24(18)
doi: 10.3390/ijms241813932.
PMID: 37762234Free PMC Article
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
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