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
von Krusenstiern L,
Liu J,
Liao E,
Gow JA,
Chen G,
Ong T,
Lotery AJ,
Jalil A,
Lam BL,
MacLaren RE;
XIRIUS Part 1 Study GroupXOLARIS Study Group
JAMA Ophthalmol
2023 Mar 1;141(3):275-283.
doi: 10.1001/jamaophthalmol.2022.6254.
PMID: 36757689Free 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
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
Therapy
Chen X,
Xu N,
Li J,
Zhao M,
Huang L
Stem Cell Res Ther
2023 Oct 5;14(1):286.
doi: 10.1186/s13287-023-03526-x.
PMID: 37798796Free PMC Article
von Krusenstiern L,
Liu J,
Liao E,
Gow JA,
Chen G,
Ong T,
Lotery AJ,
Jalil A,
Lam BL,
MacLaren RE;
XIRIUS Part 1 Study GroupXOLARIS Study Group
JAMA Ophthalmol
2023 Mar 1;141(3):275-283.
doi: 10.1001/jamaophthalmol.2022.6254.
PMID: 36757689Free PMC Article
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
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
Prognosis
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
Sahel J,
Bonnel S,
Mrejen S,
Paques M
Dev Ophthalmol
2010;47:160-167.
Epub 2010 Aug 10
doi: 10.1159/000320079.
PMID: 20703049
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
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
Kim YN,
Song JS,
Oh SH,
Kim YJ,
Yoon YH,
Seo EJ,
Seol CA,
Lee SM,
Choi JM,
Seo GH,
Keum C,
Lee BH,
Lee JY
Sci Rep
2020 Nov 11;10(1):19540.
doi: 10.1038/s41598-020-75902-z.
PMID: 33177553Free PMC Article
Kuehlewein L,
Zobor D,
Andreasson SO,
Ayuso C,
Banfi S,
Bocquet B,
Bernd AS,
Biskup S,
Boon CJF,
Downes SM,
Fischer MD,
Holz FG,
Kellner U,
Leroy BP,
Meunier I,
Nasser F,
Rosenberg T,
Rudolph G,
Stingl K,
Thiadens AAHJ,
Wilhelm B,
Wissinger B,
Zrenner E,
Kohl S,
Weisschuh N;
RD-CURE Consortium
JAMA Ophthalmol
2020 Dec 1;138(12):1241-1250.
doi: 10.1001/jamaophthalmol.2020.4206.
PMID: 33057649Free PMC Article
Valero T
Curr Pharm Des
2014;20(35):5507-9.
doi: 10.2174/138161282035140911142118.
PMID: 24606795