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
Hou M,
Bao X,
Liu L,
Ding Y,
Luo F,
Wu M
Int Ophthalmol
2021 Nov;41(11):3631-3639.
Epub 2021 Jun 27
doi: 10.1007/s10792-021-01935-6.
PMID: 34180018
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
Diagnosis
Abdolrahimzadeh S,
Di Pippo M,
Ciancimino C,
Di Staso F,
Lotery AJ
Eye (Lond)
2023 Jun;37(9):1766-1773.
Epub 2022 Oct 7
doi: 10.1038/s41433-022-02270-5.
PMID: 36207507Free 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
Sakti DH,
Cornish EE,
Mustafic N,
Zaheer A,
Retsas S,
Rajagopalan S,
Chung CW,
Ewans L,
McCluskey P,
Nash BM,
Jamieson RV,
Grigg JR
Ophthalmic Genet
2021 Dec;42(6):706-716.
Epub 2021 Jul 22
doi: 10.1080/13816810.2021.1955278.
PMID: 34289798
Hou M,
Bao X,
Liu L,
Ding Y,
Luo F,
Wu M
Int Ophthalmol
2021 Nov;41(11):3631-3639.
Epub 2021 Jun 27
doi: 10.1007/s10792-021-01935-6.
PMID: 34180018
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
Therapy
Lam BL,
Pennesi ME,
Kay CN,
Panda S,
Gow JA,
Zhao G,
MacLaren RE;
XIRIUS Study Group
Ophthalmology
2024 Sep;131(9):1083-1093.
Epub 2024 Feb 28
doi: 10.1016/j.ophtha.2024.02.023.
PMID: 38423215
Camacho ET,
Lenhart S,
Melara LA,
Villalobos MC,
Wirkus S
Math Med Biol
2020 Feb 28;37(1):1-21.
doi: 10.1093/imammb/dqz003.
PMID: 30810166
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
Storm van's Gravesande K,
Omran H
Ann Med
2005;37(6):439-49.
doi: 10.1080/07853890510011985.
PMID: 16203616
Prognosis
Daich Varela M,
Conti GM,
Malka S,
Vaclavik V,
Mahroo OA,
Webster AR,
Tran V,
Michaelides M
Ophthalmology
2023 Dec;130(12):1327-1335.
Epub 2023 Aug 5
doi: 10.1016/j.ophtha.2023.07.027.
PMID: 37544434Free PMC Article
Ito N,
Miura G,
Shiko Y,
Kawasaki Y,
Baba T,
Yamamoto S
Biomed Res Int
2022;2022:7204954.
Epub 2022 Jul 14
doi: 10.1155/2022/7204954.
PMID: 35872870Free 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
Xu M,
Zhai Y,
MacDonald IM
Invest Ophthalmol Vis Sci
2020 Jun 3;61(6):56.
doi: 10.1167/iovs.61.6.56.
PMID: 32589198Free PMC Article
Liew G,
Strong S,
Bradley P,
Severn P,
Moore AT,
Webster AR,
Mitchell P,
Kifley A,
Michaelides M
Br J Ophthalmol
2019 Aug;103(8):1163-1166.
Epub 2018 Oct 5
doi: 10.1136/bjophthalmol-2018-311964.
PMID: 30291136
Clinical prediction guides
Daich Varela M,
Conti GM,
Malka S,
Vaclavik V,
Mahroo OA,
Webster AR,
Tran V,
Michaelides M
Ophthalmology
2023 Dec;130(12):1327-1335.
Epub 2023 Aug 5
doi: 10.1016/j.ophtha.2023.07.027.
PMID: 37544434Free 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
Kim JH,
Han JW,
Choi EW,
Bang JH,
Shin HJ,
Jang MA,
Lee JY,
Choi JN,
Chang HS,
Park TK
J Korean Med Sci
2022 Jan 17;37(3):e5.
doi: 10.3346/jkms.2022.37.e5.
PMID: 35040292Free PMC Article
Camacho ET,
Lenhart S,
Melara LA,
Villalobos MC,
Wirkus S
Math Med Biol
2020 Feb 28;37(1):1-21.
doi: 10.1093/imammb/dqz003.
PMID: 30810166
Kimchi A,
Khateb S,
Wen R,
Guan Z,
Obolensky A,
Beryozkin A,
Kurtzman S,
Blumenfeld A,
Pras E,
Jacobson SG,
Ben-Yosef T,
Newman H,
Sharon D,
Banin E
Ophthalmology
2018 May;125(5):725-734.
Epub 2017 Dec 22
doi: 10.1016/j.ophtha.2017.11.014.
PMID: 29276052