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
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
Ferri P,
Abeshi A,
Bertelli M,
Rossetti L
Invest Ophthalmol Vis Sci
2021 Feb 1;62(2):13.
doi: 10.1167/iovs.62.2.13.
PMID: 33576794Free 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
Forsythe E,
Beales PL
Eur J Hum Genet
2013 Jan;21(1):8-13.
Epub 2012 Jun 20
doi: 10.1038/ejhg.2012.115.
PMID: 22713813Free PMC Article
Diagnosis
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
Ferri P,
Abeshi A,
Bertelli M,
Rossetti L
Invest Ophthalmol Vis Sci
2021 Feb 1;62(2):13.
doi: 10.1167/iovs.62.2.13.
PMID: 33576794Free PMC Article
Koyanagi Y,
Akiyama M,
Nishiguchi KM,
Momozawa Y,
Kamatani Y,
Takata S,
Inai C,
Iwasaki Y,
Kumano M,
Murakami Y,
Omodaka K,
Abe T,
Komori S,
Gao D,
Hirakata T,
Kurata K,
Hosono K,
Ueno S,
Hotta Y,
Murakami A,
Terasaki H,
Wada Y,
Nakazawa T,
Ishibashi T,
Ikeda Y,
Kubo M,
Sonoda KH
J Med Genet
2019 Oct;56(10):662-670.
Epub 2019 Jun 17
doi: 10.1136/jmedgenet-2018-105691.
PMID: 31213501
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
Bonnet C,
Riahi Z,
Chantot-Bastaraud S,
Smagghe L,
Letexier M,
Marcaillou C,
Lefèvre GM,
Hardelin JP,
El-Amraoui A,
Singh-Estivalet A,
Mohand-Saïd S,
Kohl S,
Kurtenbach A,
Sliesoraityte I,
Zobor D,
Gherbi S,
Testa F,
Simonelli F,
Banfi S,
Fakin A,
Glavač D,
Jarc-Vidmar M,
Zupan A,
Battelino S,
Martorell Sampol L,
Claveria MA,
Catala Mora J,
Dad S,
Møller LB,
Rodriguez Jorge J,
Hawlina M,
Auricchio A,
Sahel JA,
Marlin S,
Zrenner E,
Audo I,
Petit C
Eur J Hum Genet
2016 Dec;24(12):1730-1738.
Epub 2016 Jul 27
doi: 10.1038/ejhg.2016.99.
PMID: 27460420Free PMC Article
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
Arora S,
Surakiatchanukul T,
Arora T,
Cagini C,
Lupidi M,
Chhablani J
Surv Ophthalmol
2022 Mar-Apr;67(2):463-487.
Epub 2021 Jun 25
doi: 10.1016/j.survophthal.2021.06.004.
PMID: 34175342
Mansard L,
Baux D,
Vaché C,
Blanchet C,
Meunier I,
Willems M,
Faugère V,
Baudoin C,
Moclyn M,
Bianchi J,
Dollfus H,
Gilbert-Dussardier B,
Dupin-Deguine D,
Bonneau D,
Drumare I,
Odent S,
Zanlonghi X,
Claustres M,
Koenig M,
Kalatzis V,
Roux AF
Int J Mol Sci
2021 Dec 10;22(24)
doi: 10.3390/ijms222413294.
PMID: 34948090Free 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
Athanasiou D,
Aguila M,
Bellingham J,
Li W,
McCulley C,
Reeves PJ,
Cheetham ME
Prog Retin Eye Res
2018 Jan;62:1-23.
Epub 2017 Oct 16
doi: 10.1016/j.preteyeres.2017.10.002.
PMID: 29042326Free PMC Article
Prognosis
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
Ferri P,
Abeshi A,
Bertelli M,
Rossetti L
Invest Ophthalmol Vis Sci
2021 Feb 1;62(2):13.
doi: 10.1167/iovs.62.2.13.
PMID: 33576794Free PMC Article
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,
Sharma T
Adv Exp Med Biol
2018;1085:131-137.
doi: 10.1007/978-3-319-95046-4_26.
PMID: 30578499
Bonnet C,
Riahi Z,
Chantot-Bastaraud S,
Smagghe L,
Letexier M,
Marcaillou C,
Lefèvre GM,
Hardelin JP,
El-Amraoui A,
Singh-Estivalet A,
Mohand-Saïd S,
Kohl S,
Kurtenbach A,
Sliesoraityte I,
Zobor D,
Gherbi S,
Testa F,
Simonelli F,
Banfi S,
Fakin A,
Glavač D,
Jarc-Vidmar M,
Zupan A,
Battelino S,
Martorell Sampol L,
Claveria MA,
Catala Mora J,
Dad S,
Møller LB,
Rodriguez Jorge J,
Hawlina M,
Auricchio A,
Sahel JA,
Marlin S,
Zrenner E,
Audo I,
Petit C
Eur J Hum Genet
2016 Dec;24(12):1730-1738.
Epub 2016 Jul 27
doi: 10.1038/ejhg.2016.99.
PMID: 27460420Free PMC Article
Hamel C
Orphanet J Rare Dis
2006 Oct 11;1:40.
doi: 10.1186/1750-1172-1-40.
PMID: 17032466Free PMC Article
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
Bonnet C,
Riahi Z,
Chantot-Bastaraud S,
Smagghe L,
Letexier M,
Marcaillou C,
Lefèvre GM,
Hardelin JP,
El-Amraoui A,
Singh-Estivalet A,
Mohand-Saïd S,
Kohl S,
Kurtenbach A,
Sliesoraityte I,
Zobor D,
Gherbi S,
Testa F,
Simonelli F,
Banfi S,
Fakin A,
Glavač D,
Jarc-Vidmar M,
Zupan A,
Battelino S,
Martorell Sampol L,
Claveria MA,
Catala Mora J,
Dad S,
Møller LB,
Rodriguez Jorge J,
Hawlina M,
Auricchio A,
Sahel JA,
Marlin S,
Zrenner E,
Audo I,
Petit C
Eur J Hum Genet
2016 Dec;24(12):1730-1738.
Epub 2016 Jul 27
doi: 10.1038/ejhg.2016.99.
PMID: 27460420Free PMC Article
Forsythe E,
Beales PL
Eur J Hum Genet
2013 Jan;21(1):8-13.
Epub 2012 Jun 20
doi: 10.1038/ejhg.2012.115.
PMID: 22713813Free PMC Article
Le Quesne Stabej P,
Saihan Z,
Rangesh N,
Steele-Stallard HB,
Ambrose J,
Coffey A,
Emmerson J,
Haralambous E,
Hughes Y,
Steel KP,
Luxon LM,
Webster AR,
Bitner-Glindzicz M
J Med Genet
2012 Jan;49(1):27-36.
Epub 2011 Dec 1
doi: 10.1136/jmedgenet-2011-100468.
PMID: 22135276Free PMC Article