Etiology
Okonkwo ON,
Hassan AO,
Agweye CT,
Victor U,
Akanbi T
Ann Afr Med
2023 Oct-Dec;22(4):451-455.
doi: 10.4103/aam.aam_181_22.
PMID: 38358145Free PMC Article
Heath Jeffery RC,
Lo J,
Thompson JA,
Lamey TM,
McLaren TL,
DeRoach JN,
Kabilio MS,
Chen FK
Ophthalmic Genet
2023 Aug;44(4):352-360.
Epub 2023 Apr 4
doi: 10.1080/13816810.2023.2196338.
PMID: 37013444
Li C,
Peng C,
Zhang C,
Li N
BMC Ophthalmol
2023 Jan 17;23(1):25.
doi: 10.1186/s12886-023-02772-0.
PMID: 36650468Free 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
Della Volpe Waizel M,
Scholl HPN,
Todorova MG
Acta Ophthalmol
2021 Dec;99(8):e1396-e1404.
Epub 2021 May 10
doi: 10.1111/aos.14828.
PMID: 33973369
Diagnosis
Heath Jeffery RC,
Lo J,
Thompson JA,
Lamey TM,
McLaren TL,
DeRoach JN,
Kabilio MS,
Chen FK
Ophthalmic Genet
2023 Aug;44(4):352-360.
Epub 2023 Apr 4
doi: 10.1080/13816810.2023.2196338.
PMID: 37013444
Della Volpe Waizel M,
Scholl HPN,
Todorova MG
Acta Ophthalmol
2021 Dec;99(8):e1396-e1404.
Epub 2021 May 10
doi: 10.1111/aos.14828.
PMID: 33973369
Dan H,
Huang X,
Xing Y,
Shen Y
Mol Genet Genomic Med
2020 Mar;8(3):e1131.
Epub 2020 Jan 20
doi: 10.1002/mgg3.1131.
PMID: 31960602Free PMC Article
Sharon D,
Ben-Yosef T,
Goldenberg-Cohen N,
Pras E,
Gradstein L,
Soudry S,
Mezer E,
Zur D,
Abbasi AH,
Zeitz C,
Cremers FPM,
Khan MI,
Levy J,
Rotenstreich Y,
Birk OS,
Ehrenberg M,
Leibu R,
Newman H,
Shomron N,
Banin E,
Perlman I
Hum Mutat
2020 Jan;41(1):140-149.
Epub 2019 Sep 15
doi: 10.1002/humu.23903.
PMID: 31456290
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
Therapy
Dizdar Yigit D,
Sevik MO,
Şahin Ö
Retina
2022 May 1;42(5):923-933.
doi: 10.1097/IAE.0000000000003386.
PMID: 34923514
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
Özmert E,
Arslan U
Stem Cell Res Ther
2020 Aug 12;11(1):353.
doi: 10.1186/s13287-020-01870-w.
PMID: 32787913Free PMC Article
Toms M,
Dubis AM,
de Vrieze E,
Tracey-White D,
Mitsios A,
Hayes M,
Broekman S,
Baxendale S,
Utoomprurkporn N,
Bamiou D,
Bitner-Glindzicz M,
Webster AR,
Van Wijk E,
Moosajee M
Hum Mol Genet
2020 Jul 21;29(11):1882-1899.
doi: 10.1093/hmg/ddaa004.
PMID: 31998945Free PMC Article
Thrimawithana TR,
Young S,
Bunt CR,
Green C,
Alany RG
Drug Discov Today
2011 Mar;16(5-6):270-7.
Epub 2010 Dec 15
doi: 10.1016/j.drudis.2010.12.004.
PMID: 21167306
Prognosis
Heath Jeffery RC,
Lo J,
Thompson JA,
Lamey TM,
McLaren TL,
DeRoach JN,
Kabilio MS,
Chen FK
Ophthalmic Genet
2023 Aug;44(4):352-360.
Epub 2023 Apr 4
doi: 10.1080/13816810.2023.2196338.
PMID: 37013444
Nguyen XT,
Thiadens AAHJ,
Fiocco M,
Tan W,
McKibbin M,
Klaver CCW,
Meester-Smoor MA,
Van Cauwenbergh C,
Strubbe I,
Vergaro A,
Pott JR,
Hoyng CB,
Leroy BP,
Zemaitiene R,
Khan KN,
Boon CJF
Am J Ophthalmol
2023 Feb;246:1-9.
Epub 2022 Oct 15
doi: 10.1016/j.ajo.2022.10.001.
PMID: 36252678
Chatterjee S,
Agrawal D,
Agrawal D,
Parchand SM,
Sahu A
Indian J Ophthalmol
2021 Jul;69(7):1753-1757.
doi: 10.4103/ijo.IJO_2916_20.
PMID: 34146021Free 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
Werdich XQ,
Place EM,
Pierce EA
Semin Ophthalmol
2014 Sep-Nov;29(5-6):319-28.
doi: 10.3109/08820538.2014.959202.
PMID: 25325857
Clinical prediction guides
Heath Jeffery RC,
Lo J,
Thompson JA,
Lamey TM,
McLaren TL,
DeRoach JN,
Kabilio MS,
Chen FK
Ophthalmic Genet
2023 Aug;44(4):352-360.
Epub 2023 Apr 4
doi: 10.1080/13816810.2023.2196338.
PMID: 37013444
Nguyen XT,
Thiadens AAHJ,
Fiocco M,
Tan W,
McKibbin M,
Klaver CCW,
Meester-Smoor MA,
Van Cauwenbergh C,
Strubbe I,
Vergaro A,
Pott JR,
Hoyng CB,
Leroy BP,
Zemaitiene R,
Khan KN,
Boon CJF
Am J Ophthalmol
2023 Feb;246:1-9.
Epub 2022 Oct 15
doi: 10.1016/j.ajo.2022.10.001.
PMID: 36252678
Chatterjee S,
Agrawal D,
Agrawal D,
Parchand SM,
Sahu A
Indian J Ophthalmol
2021 Jul;69(7):1753-1757.
doi: 10.4103/ijo.IJO_2916_20.
PMID: 34146021Free 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
Salomon R,
Saunier S,
Niaudet P
Pediatr Nephrol
2009 Dec;24(12):2333-44.
Epub 2008 Jul 8
doi: 10.1007/s00467-008-0840-z.
PMID: 18607645Free PMC Article