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
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
Tsang SH,
Aycinena ARP,
Sharma T
Adv Exp Med Biol
2018;1085:167-170.
doi: 10.1007/978-3-319-95046-4_32.
PMID: 30578505
Sun T,
Xu K,
Ren Y,
Xie Y,
Zhang X,
Tian L,
Li Y
Invest Ophthalmol Vis Sci
2018 Mar 1;59(3):1229-1237.
doi: 10.1167/iovs.17-23312.
PMID: 29625443
Verbakel SK,
van Huet RAC,
Boon CJF,
den Hollander AI,
Collin RWJ,
Klaver CCW,
Hoyng CB,
Roepman R,
Klevering BJ
Prog Retin Eye Res
2018 Sep;66:157-186.
Epub 2018 Mar 27
doi: 10.1016/j.preteyeres.2018.03.005.
PMID: 29597005
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
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
Sun T,
Xu K,
Ren Y,
Xie Y,
Zhang X,
Tian L,
Li Y
Invest Ophthalmol Vis Sci
2018 Mar 1;59(3):1229-1237.
doi: 10.1167/iovs.17-23312.
PMID: 29625443
Verbakel SK,
van Huet RAC,
Boon CJF,
den Hollander AI,
Collin RWJ,
Klaver CCW,
Hoyng CB,
Roepman R,
Klevering BJ
Prog Retin Eye Res
2018 Sep;66:157-186.
Epub 2018 Mar 27
doi: 10.1016/j.preteyeres.2018.03.005.
PMID: 29597005
Merin S,
Auerbach E
Surv Ophthalmol
1976 Mar-Apr;20(5):303-46.
doi: 10.1016/s0039-6257(96)90001-6.
PMID: 817406
Therapy
Cehajic Kapetanovic J,
McClements ME,
Martinez-Fernandez de la Camara C,
MacLaren RE
Genes (Basel)
2019 Sep 4;10(9)
doi: 10.3390/genes10090674.
PMID: 31487940Free PMC Article
Maeda A,
Mandai M,
Takahashi M
Annu Rev Genomics Hum Genet
2019 Aug 31;20:201-216.
Epub 2019 Apr 24
doi: 10.1146/annurev-genom-083118-015043.
PMID: 31018110
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
Valero T
Curr Pharm Des
2014;20(35):5507-9.
doi: 10.2174/138161282035140911142118.
PMID: 24606795
Sahel J,
Bonnel S,
Mrejen S,
Paques M
Dev Ophthalmol
2010;47:160-167.
Epub 2010 Aug 10
doi: 10.1159/000320079.
PMID: 20703049
Prognosis
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
Tsang SH,
Sharma T
Adv Exp Med Biol
2018;1085:131-137.
doi: 10.1007/978-3-319-95046-4_26.
PMID: 30578499
Verma IC,
Paliwal P,
Singh K
Indian J Pediatr
2018 Mar;85(3):228-236.
Epub 2017 Oct 2
doi: 10.1007/s12098-017-2453-7.
PMID: 28971364
Valero T
Curr Pharm Des
2014;20(35):5507-9.
doi: 10.2174/138161282035140911142118.
PMID: 24606795
Merin S,
Auerbach E
Surv Ophthalmol
1976 Mar-Apr;20(5):303-46.
doi: 10.1016/s0039-6257(96)90001-6.
PMID: 817406
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
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
Liu TYA,
Ling C,
Hahn L,
Jones CK,
Boon CJ,
Singh MS
Br J Ophthalmol
2023 Oct;107(10):1484-1489.
Epub 2022 Jul 27
doi: 10.1136/bjo-2021-320897.
PMID: 35896367Free PMC Article
Valero T
Curr Pharm Des
2014;20(35):5507-9.
doi: 10.2174/138161282035140911142118.
PMID: 24606795
Rayapudi S,
Schwartz SG,
Wang X,
Chavis P
Cochrane Database Syst Rev
2013 Dec 19;2013(12):CD008428.
doi: 10.1002/14651858.CD008428.pub2.
PMID: 24357340Free PMC Article