Etiology
Monavarfeshani A,
Yan W,
Pappas C,
Odenigbo KA,
He Z,
Segrè AV,
van Zyl T,
Hageman GS,
Sanes JR
Proc Natl Acad Sci U S A
2023 Aug 22;120(34):e2306153120.
Epub 2023 Aug 11
doi: 10.1073/pnas.2306153120.
PMID: 37566633Free PMC Article
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
Meyer JR,
Krentz AD,
Berg RL,
Richardson JG,
Pomeroy J,
Hebbring SJ,
Haws RM
Clin Genet
2022 Apr;101(4):429-441.
doi: 10.1111/cge.14119.
PMID: 35112343Free PMC Article
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
Yoshida N,
Ikeda Y,
Murakami Y,
Nakatake S,
Tachibana T,
Notomi S,
Hisatomi T,
Ishibashi T
Jpn J Ophthalmol
2015 Nov;59(6):373-7.
Epub 2015 Aug 29
doi: 10.1007/s10384-015-0405-1.
PMID: 26314744
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
Poli G,
Barravecchia I,
Demontis GC,
Sodi A,
Saba A,
Rizzo S,
Macchia M,
Tuccinardi T
J Enzyme Inhib Med Chem
2022 Dec;37(1):1765-1772.
doi: 10.1080/14756366.2022.2090547.
PMID: 35726567Free PMC Article
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
Hu SL,
Zheng CP
Cutan Ocul Toxicol
2018 Sep;37(3):245-251.
Epub 2018 Mar 15
doi: 10.1080/15569527.2018.1441863.
PMID: 29480079
Yoshida N,
Ikeda Y,
Murakami Y,
Nakatake S,
Tachibana T,
Notomi S,
Hisatomi T,
Ishibashi T
Jpn J Ophthalmol
2015 Nov;59(6):373-7.
Epub 2015 Aug 29
doi: 10.1007/s10384-015-0405-1.
PMID: 26314744
Therapy
Zarbin MA,
Novack G
J Ocul Pharmacol Ther
2021 Nov;37(9):495-501.
Epub 2021 Sep 3
doi: 10.1089/jop.2021.0059.
PMID: 34491833
Zhou Y,
Li S,
Huang L,
Yang Y,
Zhang L,
Yang M,
Liu W,
Ramasamy K,
Jiang Z,
Sundaresan P,
Zhu X,
Yang Z
Hum Mol Genet
2018 Jul 15;27(14):2563-2572.
doi: 10.1093/hmg/ddy165.
PMID: 29726989
Hu SL,
Zheng CP
Cutan Ocul Toxicol
2018 Sep;37(3):245-251.
Epub 2018 Mar 15
doi: 10.1080/15569527.2018.1441863.
PMID: 29480079
Moore NA,
Morral N,
Ciulla TA,
Bracha P
Expert Opin Biol Ther
2018 Jan;18(1):37-49.
Epub 2017 Oct 23
doi: 10.1080/14712598.2018.1389886.
PMID: 29057663
Larrañaga-Fragoso P,
Pastora N,
Bravo-Ljubetic L,
Peralta J,
Abelairas-Gómez J
Ophthalmic Genet
2016 Dec;37(4):427-429.
Epub 2016 Feb 19
doi: 10.3109/13816810.2015.1094493.
PMID: 26894450
Prognosis
Poli G,
Barravecchia I,
Demontis GC,
Sodi A,
Saba A,
Rizzo S,
Macchia M,
Tuccinardi T
J Enzyme Inhib Med Chem
2022 Dec;37(1):1765-1772.
doi: 10.1080/14756366.2022.2090547.
PMID: 35726567Free PMC Article
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
Mallmann MR,
Reutter H,
Mack-Detlefsen B,
Gottschalk I,
Geipel A,
Berg C,
Boemers TM,
Gembruch U
Fetal Diagn Ther
2019;45(1):62-68.
Epub 2018 Feb 23
doi: 10.1159/000486781.
PMID: 29478043
Kenner C,
Gallo AM,
Bryant KD
J Nurs Scholarsh
2005;37(4):308-14.
doi: 10.1111/j.1547-5069.2005.00054.x.
PMID: 16396402
Kafil-Hussain NA,
Monavari A,
Bowell R,
Thornton P,
Naughten E,
O'Keefe M
J Pediatr Ophthalmol Strabismus
2000 Sep-Oct;37(5):289-93.
PMID: 11020111
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
Poli G,
Barravecchia I,
Demontis GC,
Sodi A,
Saba A,
Rizzo S,
Macchia M,
Tuccinardi T
J Enzyme Inhib Med Chem
2022 Dec;37(1):1765-1772.
doi: 10.1080/14756366.2022.2090547.
PMID: 35726567Free PMC Article
Mallmann MR,
Reutter H,
Mack-Detlefsen B,
Gottschalk I,
Geipel A,
Berg C,
Boemers TM,
Gembruch U
Fetal Diagn Ther
2019;45(1):62-68.
Epub 2018 Feb 23
doi: 10.1159/000486781.
PMID: 29478043
Yoshida N,
Ikeda Y,
Murakami Y,
Nakatake S,
Tachibana T,
Notomi S,
Hisatomi T,
Ishibashi T
Jpn J Ophthalmol
2015 Nov;59(6):373-7.
Epub 2015 Aug 29
doi: 10.1007/s10384-015-0405-1.
PMID: 26314744
Storm van's Gravesande K,
Omran H
Ann Med
2005;37(6):439-49.
doi: 10.1080/07853890510011985.
PMID: 16203616