Etiology
Birtel J,
Caswell R,
De Silva SR,
Herrmann P,
Rehman S,
Lotery AJ,
Mahroo OA,
Michaelides M,
Webster AR,
MacLaren RE,
Charbel Issa P
Am J Ophthalmol
2024 Feb;258:32-42.
Epub 2023 Oct 6
doi: 10.1016/j.ajo.2023.10.002.
PMID: 37806544
Bhardwaj A,
Yadav A,
Yadav M,
Tanwar M
Indian J Ophthalmol
2022 Jul;70(7):2355-2385.
doi: 10.4103/ijo.IJO_46_22.
PMID: 35791117Free 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
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
Afzelius BA
J Pathol
2004 Nov;204(4):470-7.
doi: 10.1002/path.1652.
PMID: 15495266Free PMC Article
Diagnosis
Birtel J,
Caswell R,
De Silva SR,
Herrmann P,
Rehman S,
Lotery AJ,
Mahroo OA,
Michaelides M,
Webster AR,
MacLaren RE,
Charbel Issa P
Am J Ophthalmol
2024 Feb;258:32-42.
Epub 2023 Oct 6
doi: 10.1016/j.ajo.2023.10.002.
PMID: 37806544
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
Bhardwaj A,
Yadav A,
Yadav M,
Tanwar M
Indian J Ophthalmol
2022 Jul;70(7):2355-2385.
doi: 10.4103/ijo.IJO_46_22.
PMID: 35791117Free 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
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
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
Liu K,
Wang L
Bosn J Basic Med Sci
2019 Nov 8;19(4):321-327.
doi: 10.17305/bjbms.2019.4114.
PMID: 30995901Free PMC Article
Klassen H
Expert Opin Biol Ther
2016;16(1):7-14.
Epub 2015 Sep 28
doi: 10.1517/14712598.2016.1093110.
PMID: 26414165
Luo YH,
da Cruz L
Prog Retin Eye Res
2016 Jan;50:89-107.
Epub 2015 Sep 25
doi: 10.1016/j.preteyeres.2015.09.003.
PMID: 26404104
Afzelius BA
J Pathol
2004 Nov;204(4):470-7.
doi: 10.1002/path.1652.
PMID: 15495266Free PMC Article
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
Bhardwaj A,
Yadav A,
Yadav M,
Tanwar M
Indian J Ophthalmol
2022 Jul;70(7):2355-2385.
doi: 10.4103/ijo.IJO_46_22.
PMID: 35791117Free PMC Article
Ma DJ,
Lee HS,
Kim K,
Choi S,
Jang I,
Cho SH,
Yoon CK,
Lee EK,
Yu HG
BMC Med Genomics
2021 Mar 10;14(1):74.
doi: 10.1186/s12920-021-00874-6.
PMID: 33691693Free 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
Sathasivam S
Orphanet J Rare Dis
2008 Apr 17;3:9.
doi: 10.1186/1750-1172-3-9.
PMID: 18416855Free PMC Article
Clinical prediction guides
Birtel J,
Caswell R,
De Silva SR,
Herrmann P,
Rehman S,
Lotery AJ,
Mahroo OA,
Michaelides M,
Webster AR,
MacLaren RE,
Charbel Issa P
Am J Ophthalmol
2024 Feb;258:32-42.
Epub 2023 Oct 6
doi: 10.1016/j.ajo.2023.10.002.
PMID: 37806544
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
Duncan JL,
Liang W,
Maguire MG,
Porco TC,
Wong J,
Audo I,
Cava JA,
Grieve K,
Kalitzeos A,
Kreis J,
Michaelides M,
Norberg N,
Paques M,
Carroll J;
Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol
2023 Aug;252:77-93.
Epub 2023 Mar 21
doi: 10.1016/j.ajo.2023.03.006.
PMID: 36948373
Ma DJ,
Lee HS,
Kim K,
Choi S,
Jang I,
Cho SH,
Yoon CK,
Lee EK,
Yu HG
BMC Med Genomics
2021 Mar 10;14(1):74.
doi: 10.1186/s12920-021-00874-6.
PMID: 33691693Free 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