Etiology
Suga A,
Yoshitake K,
Minematsu N,
Tsunoda K,
Fujinami K,
Miyake Y,
Kuniyoshi K,
Hayashi T,
Mizobuchi K,
Ueno S,
Terasaki H,
Kominami T,
Nao-I N,
Mawatari G,
Mizota A,
Shinoda K,
Kondo M,
Kato K,
Sekiryu T,
Nakamura M,
Kusuhara S,
Yamamoto H,
Yamamoto S,
Mochizuki K,
Kondo H,
Matsushita I,
Kameya S,
Fukuchi T,
Hatase T,
Horiguchi M,
Shimada Y,
Tanikawa A,
Yamamoto S,
Miura G,
Ito N,
Murakami A,
Fujimaki T,
Hotta Y,
Tanaka K,
Iwata T
Hum Mutat
2022 Dec;43(12):2251-2264.
Epub 2022 Nov 7
doi: 10.1002/humu.24492.
PMID: 36284460
Del Pozo-Valero M,
Riveiro-Alvarez R,
Martin-Merida I,
Blanco-Kelly F,
Swafiri S,
Lorda-Sanchez I,
Trujillo-Tiebas MJ,
Carreño E,
Jimenez-Rolando B,
Garcia-Sandoval B,
Corton M,
Avila-Fernandez A,
Ayuso C
Invest Ophthalmol Vis Sci
2022 Feb 1;63(2):11.
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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
Riveiro-Alvarez R,
Lopez-Martinez MA,
Zernant J,
Aguirre-Lamban J,
Cantalapiedra D,
Avila-Fernandez A,
Gimenez A,
Lopez-Molina MI,
Garcia-Sandoval B,
Blanco-Kelly F,
Corton M,
Tatu S,
Fernandez-San Jose P,
Trujillo-Tiebas MJ,
Ramos C,
Allikmets R,
Ayuso C
Ophthalmology
2013 Nov;120(11):2332-7.
Epub 2013 Jun 4
doi: 10.1016/j.ophtha.2013.04.002.
PMID: 23755871Free PMC Article
Marshall JD,
Beck S,
Maffei P,
Naggert JK
Eur J Hum Genet
2007 Dec;15(12):1193-202.
Epub 2007 Oct 17
doi: 10.1038/sj.ejhg.5201933.
PMID: 17940554
Diagnosis
Suga A,
Yoshitake K,
Minematsu N,
Tsunoda K,
Fujinami K,
Miyake Y,
Kuniyoshi K,
Hayashi T,
Mizobuchi K,
Ueno S,
Terasaki H,
Kominami T,
Nao-I N,
Mawatari G,
Mizota A,
Shinoda K,
Kondo M,
Kato K,
Sekiryu T,
Nakamura M,
Kusuhara S,
Yamamoto H,
Yamamoto S,
Mochizuki K,
Kondo H,
Matsushita I,
Kameya S,
Fukuchi T,
Hatase T,
Horiguchi M,
Shimada Y,
Tanikawa A,
Yamamoto S,
Miura G,
Ito N,
Murakami A,
Fujimaki T,
Hotta Y,
Tanaka K,
Iwata T
Hum Mutat
2022 Dec;43(12):2251-2264.
Epub 2022 Nov 7
doi: 10.1002/humu.24492.
PMID: 36284460
De Silva SR,
Arno G,
Robson AG,
Fakin A,
Pontikos N,
Mohamed MD,
Bird AC,
Moore AT,
Michaelides M,
Webster AR,
Mahroo OA
Prog Retin Eye Res
2021 May;82:100898.
Epub 2020 Aug 26
doi: 10.1016/j.preteyeres.2020.100898.
PMID: 32860923
Zampaglione E,
Kinde B,
Place EM,
Navarro-Gomez D,
Maher M,
Jamshidi F,
Nassiri S,
Mazzone JA,
Finn C,
Schlegel D,
Comander J,
Pierce EA,
Bujakowska KM
Genet Med
2020 Jun;22(6):1079-1087.
Epub 2020 Feb 10
doi: 10.1038/s41436-020-0759-8.
PMID: 32037395Free PMC Article
Tsang SH,
Aycinena ARP,
Sharma T
Adv Exp Med Biol
2018;1085:179-180.
doi: 10.1007/978-3-319-95046-4_35.
PMID: 30578508
Hamel C
Orphanet J Rare Dis
2006 Oct 11;1:40.
doi: 10.1186/1750-1172-1-40.
PMID: 17032466Free PMC Article
Therapy
Daich Varela M,
Georgiadis A,
Michaelides M
Br J Ophthalmol
2023 Sep;107(9):1223-1230.
Epub 2022 Aug 29
doi: 10.1136/bjo-2022-321903.
PMID: 36038193
Wu S,
Yuan Z,
Sun Z,
Yao F,
Sui R
Am J Med Genet A
2022 Mar;188(3):948-952.
Epub 2021 Nov 25
doi: 10.1002/ajmg.a.62582.
PMID: 34821467
Huang D,
Heath Jeffery RC,
Aung-Htut MT,
McLenachan S,
Fletcher S,
Wilton SD,
Chen FK
Ophthalmic Genet
2022 Feb;43(1):1-26.
Epub 2021 Aug 29
doi: 10.1080/13816810.2021.1966053.
PMID: 34455905
Kaur P,
Chaudhry C,
Neelam H,
Panigrahi I
BMJ Case Rep
2021 Jan 28;14(1)
doi: 10.1136/bcr-2020-236325.
PMID: 33509858Free PMC Article
Ferrucci S,
Anderson SF,
Townsend JC
Optom Vis Sci
1998 Aug;75(8):560-70.
doi: 10.1097/00006324-199808000-00021.
PMID: 9734800
Prognosis
Zampaglione E,
Kinde B,
Place EM,
Navarro-Gomez D,
Maher M,
Jamshidi F,
Nassiri S,
Mazzone JA,
Finn C,
Schlegel D,
Comander J,
Pierce EA,
Bujakowska KM
Genet Med
2020 Jun;22(6):1079-1087.
Epub 2020 Feb 10
doi: 10.1038/s41436-020-0759-8.
PMID: 32037395Free PMC Article
Jiang F,
Pan Z,
Xu K,
Tian L,
Xie Y,
Zhang X,
Chen J,
Dong B,
Li Y
Invest Ophthalmol Vis Sci
2016 Jan 1;57(1):145-52.
doi: 10.1167/iovs.15-18190.
PMID: 26780318
Riveiro-Alvarez R,
Lopez-Martinez MA,
Zernant J,
Aguirre-Lamban J,
Cantalapiedra D,
Avila-Fernandez A,
Gimenez A,
Lopez-Molina MI,
Garcia-Sandoval B,
Blanco-Kelly F,
Corton M,
Tatu S,
Fernandez-San Jose P,
Trujillo-Tiebas MJ,
Ramos C,
Allikmets R,
Ayuso C
Ophthalmology
2013 Nov;120(11):2332-7.
Epub 2013 Jun 4
doi: 10.1016/j.ophtha.2013.04.002.
PMID: 23755871Free PMC Article
Hamel C
Orphanet J Rare Dis
2006 Oct 11;1:40.
doi: 10.1186/1750-1172-1-40.
PMID: 17032466Free PMC Article
van Driel MA,
Maugeri A,
Klevering BJ,
Hoyng CB,
Cremers FP
Ophthalmic Genet
1998 Sep;19(3):117-22.
doi: 10.1076/opge.19.3.117.2187.
PMID: 9810566
Clinical prediction guides
Suga A,
Yoshitake K,
Minematsu N,
Tsunoda K,
Fujinami K,
Miyake Y,
Kuniyoshi K,
Hayashi T,
Mizobuchi K,
Ueno S,
Terasaki H,
Kominami T,
Nao-I N,
Mawatari G,
Mizota A,
Shinoda K,
Kondo M,
Kato K,
Sekiryu T,
Nakamura M,
Kusuhara S,
Yamamoto H,
Yamamoto S,
Mochizuki K,
Kondo H,
Matsushita I,
Kameya S,
Fukuchi T,
Hatase T,
Horiguchi M,
Shimada Y,
Tanikawa A,
Yamamoto S,
Miura G,
Ito N,
Murakami A,
Fujimaki T,
Hotta Y,
Tanaka K,
Iwata T
Hum Mutat
2022 Dec;43(12):2251-2264.
Epub 2022 Nov 7
doi: 10.1002/humu.24492.
PMID: 36284460
Zampaglione E,
Kinde B,
Place EM,
Navarro-Gomez D,
Maher M,
Jamshidi F,
Nassiri S,
Mazzone JA,
Finn C,
Schlegel D,
Comander J,
Pierce EA,
Bujakowska KM
Genet Med
2020 Jun;22(6):1079-1087.
Epub 2020 Feb 10
doi: 10.1038/s41436-020-0759-8.
PMID: 32037395Free PMC Article
Baig S,
Paisey R,
Dawson C,
Barrett T,
Maffei P,
Hodson J,
Rambhatla SB,
Chauhan P,
Bolton S,
Dassie F,
Francomano C,
Marshall RP,
Belal M,
Skordilis K,
Hayer M,
Price AM,
Cramb R,
Edwards N,
Steeds RP,
Geberhiwot T
Nephrol Dial Transplant
2020 Jun 1;35(6):994-1001.
doi: 10.1093/ndt/gfy293.
PMID: 30307515
Todorova MG,
Bojinova RI,
Valmaggia C,
Schorderet DF
Klin Monbl Augenheilkd
2017 Apr;234(4):577-583.
Epub 2017 Feb 1
doi: 10.1055/s-0042-121335.
PMID: 28147405
van Driel MA,
Maugeri A,
Klevering BJ,
Hoyng CB,
Cremers FP
Ophthalmic Genet
1998 Sep;19(3):117-22.
doi: 10.1076/opge.19.3.117.2187.
PMID: 9810566