Etiology
Sakti DH,
Cornish EE,
Nash BM,
Jamieson RV,
Grigg JR
Ophthalmic Genet
2023 Oct;44(5):437-455.
Epub 2023 May 31
doi: 10.1080/13816810.2023.2215310.
PMID: 37259572
Meng D,
Ragi SD,
Tsang SH
Mol Ther
2020 Oct 7;28(10):2139-2149.
Epub 2020 Aug 25
doi: 10.1016/j.ymthe.2020.08.012.
PMID: 32882181Free PMC Article
Sumaroka A,
Cideciyan AV,
Charng J,
Wu V,
Powers CA,
Iyer BS,
Lisi B,
Swider M,
Jacobson SG
Int J Mol Sci
2019 Oct 27;20(21)
doi: 10.3390/ijms20215344.
PMID: 31717845Free PMC Article
Wheway G,
Schmidts M,
Mans DA,
Szymanska K,
Nguyen TT,
Racher H,
Phelps IG,
Toedt G,
Kennedy J,
Wunderlich KA,
Sorusch N,
Abdelhamed ZA,
Natarajan S,
Herridge W,
van Reeuwijk J,
Horn N,
Boldt K,
Parry DA,
Letteboer SJF,
Roosing S,
Adams M,
Bell SM,
Bond J,
Higgins J,
Morrison EE,
Tomlinson DC,
Slaats GG,
van Dam TJP,
Huang L,
Kessler K,
Giessl A,
Logan CV,
Boyle EA,
Shendure J,
Anazi S,
Aldahmesh M,
Al Hazzaa S,
Hegele RA,
Ober C,
Frosk P,
Mhanni AA,
Chodirker BN,
Chudley AE,
Lamont R,
Bernier FP,
Beaulieu CL,
Gordon P,
Pon RT,
Donahue C,
Barkovich AJ,
Wolf L,
Toomes C,
Thiel CT,
Boycott KM,
McKibbin M,
Inglehearn CF;
UK10K Consortium;
University of Washington Center for Mendelian Genomics,
Stewart F,
Omran H,
Huynen MA,
Sergouniotis PI,
Alkuraya FS,
Parboosingh JS,
Innes AM,
Willoughby CE,
Giles RH,
Webster AR,
Ueffing M,
Blacque O,
Gleeson JG,
Wolfrum U,
Beales PL,
Gibson T,
Doherty D,
Mitchison HM,
Roepman R,
Johnson CA
Nat Cell Biol
2015 Aug;17(8):1074-1087.
Epub 2015 Jul 13
doi: 10.1038/ncb3201.
PMID: 26167768Free PMC Article
Kemp CM,
Jacobson SG,
Faulkner DJ
Invest Ophthalmol Vis Sci
1988 Aug;29(8):1235-41.
PMID: 3417410
Diagnosis
Sakti DH,
Cornish EE,
Nash BM,
Jamieson RV,
Grigg JR
Ophthalmic Genet
2023 Oct;44(5):437-455.
Epub 2023 May 31
doi: 10.1080/13816810.2023.2215310.
PMID: 37259572
Kong L,
Chu G,
Ma W,
Liang J,
Liu D,
Liu Q,
Wei X,
Jia S,
Gu H,
He Y,
Luo W,
Cao S,
Zhou X,
He R,
Yuan Z
J Med Genet
2023 Oct;60(10):939-950.
Epub 2023 Apr 3
doi: 10.1136/jmg-2022-108888.
PMID: 37012052
Meng D,
Ragi SD,
Tsang SH
Mol Ther
2020 Oct 7;28(10):2139-2149.
Epub 2020 Aug 25
doi: 10.1016/j.ymthe.2020.08.012.
PMID: 32882181Free PMC Article
Daiger SP,
Bowne SJ,
Sullivan LS
Cold Spring Harb Perspect Med
2014 Oct 10;5(10)
doi: 10.1101/cshperspect.a017129.
PMID: 25304133Free PMC Article
Teng Y,
Tian H,
Wang H,
Hu X,
Wang W,
Chen Y,
Yang Z
J Huazhong Univ Sci Technolog Med Sci
2003;23(3):242-4, 253.
doi: 10.1007/BF02829503.
PMID: 14526423
Therapy
Justin GA,
Girach A,
Maldonado RS
Curr Opin Ophthalmol
2023 May 1;34(3):226-231.
Epub 2023 Mar 14
doi: 10.1097/ICU.0000000000000947.
PMID: 36924362
Otte B,
Andrews C,
Lacy G,
Branham K,
Musch DC,
Jayasundera KT
Ophthalmic Genet
2021 Apr;42(2):170-177.
Epub 2021 Jan 6
doi: 10.1080/13816810.2020.1867752.
PMID: 33406961Free PMC Article
Kiang AS,
Kenna PF,
Humphries MM,
Ozaki E,
Koenekoop RK,
Campbell M,
Farrar GJ,
Humphries P
Genes (Basel)
2020 Nov 27;11(12)
doi: 10.3390/genes11121420.
PMID: 33261050Free PMC Article
Sumaroka A,
Cideciyan AV,
Charng J,
Wu V,
Powers CA,
Iyer BS,
Lisi B,
Swider M,
Jacobson SG
Int J Mol Sci
2019 Oct 27;20(21)
doi: 10.3390/ijms20215344.
PMID: 31717845Free PMC Article
Gragg M,
Park PS
Biochim Biophys Acta Mol Basis Dis
2018 Sep;1864(9 Pt B):2938-2948.
Epub 2018 Jun 8
doi: 10.1016/j.bbadis.2018.06.004.
PMID: 29890221Free PMC Article
Prognosis
Badawi AH,
Magliyah MS,
Schatz P,
Al-Shehri A,
Alabdullah AA
Middle East Afr J Ophthalmol
2022 Jan-Mar;29(1):59-62.
Epub 2022 Nov 23
doi: 10.4103/meajo.meajo_98_22.
PMID: 36685344Free PMC Article
Ruff A,
Tezel A,
Tezel TH
PLoS One
2022;17(10):e0276629.
Epub 2022 Oct 21
doi: 10.1371/journal.pone.0276629.
PMID: 36269735Free PMC Article
Hafler BP,
Comander J,
Weigel DiFranco C,
Place EM,
Pierce EA
Semin Ophthalmol
2016;31(1-2):49-52.
doi: 10.3109/08820538.2015.1114856.
PMID: 26959129Free PMC Article
Bessant DA,
Khaliq S,
Hameed A,
Anwar K,
Payne AM,
Mehdi SQ,
Bhattacharya SS
Hum Mutat
1999;13(1):83.
doi: 10.1002/(SICI)1098-1004(1999)13:1<83::AID-HUMU12>3.0.CO;2-5.
PMID: 10189219
Stone EM,
Kimura AE,
Nichols BE,
Khadivi P,
Fishman GA,
Sheffield VC
Ophthalmology
1991 Dec;98(12):1806-13.
doi: 10.1016/s0161-6420(91)32046-3.
PMID: 1775314
Clinical prediction guides
Sumaroka A,
Cideciyan AV,
Charng J,
Wu V,
Powers CA,
Iyer BS,
Lisi B,
Swider M,
Jacobson SG
Int J Mol Sci
2019 Oct 27;20(21)
doi: 10.3390/ijms20215344.
PMID: 31717845Free PMC Article
Wheway G,
Schmidts M,
Mans DA,
Szymanska K,
Nguyen TT,
Racher H,
Phelps IG,
Toedt G,
Kennedy J,
Wunderlich KA,
Sorusch N,
Abdelhamed ZA,
Natarajan S,
Herridge W,
van Reeuwijk J,
Horn N,
Boldt K,
Parry DA,
Letteboer SJF,
Roosing S,
Adams M,
Bell SM,
Bond J,
Higgins J,
Morrison EE,
Tomlinson DC,
Slaats GG,
van Dam TJP,
Huang L,
Kessler K,
Giessl A,
Logan CV,
Boyle EA,
Shendure J,
Anazi S,
Aldahmesh M,
Al Hazzaa S,
Hegele RA,
Ober C,
Frosk P,
Mhanni AA,
Chodirker BN,
Chudley AE,
Lamont R,
Bernier FP,
Beaulieu CL,
Gordon P,
Pon RT,
Donahue C,
Barkovich AJ,
Wolf L,
Toomes C,
Thiel CT,
Boycott KM,
McKibbin M,
Inglehearn CF;
UK10K Consortium;
University of Washington Center for Mendelian Genomics,
Stewart F,
Omran H,
Huynen MA,
Sergouniotis PI,
Alkuraya FS,
Parboosingh JS,
Innes AM,
Willoughby CE,
Giles RH,
Webster AR,
Ueffing M,
Blacque O,
Gleeson JG,
Wolfrum U,
Beales PL,
Gibson T,
Doherty D,
Mitchison HM,
Roepman R,
Johnson CA
Nat Cell Biol
2015 Aug;17(8):1074-1087.
Epub 2015 Jul 13
doi: 10.1038/ncb3201.
PMID: 26167768Free PMC Article
Wang F,
Wang Y,
Zhang B,
Zhao L,
Lyubasyuk V,
Wang K,
Xu M,
Li Y,
Wu F,
Wen C,
Bernstein PS,
Lin D,
Zhu S,
Wang H,
Zhang K,
Chen R
Invest Ophthalmol Vis Sci
2014 Oct 14;55(11):7159-64.
doi: 10.1167/iovs.14-15520.
PMID: 25316723Free PMC Article
Papaioannou M,
Chakarova CF,
Prescott DC,
Waseem N,
Theis T,
Lopez I,
Gill B,
Koenekoop RK,
Bhattacharya SS
Hum Genet
2005 Dec;118(3-4):501-3.
Epub 2005 Sep 28
doi: 10.1007/s00439-005-0063-3.
PMID: 16189705
Farrar GJ,
Kenna P,
Jordan SA,
Kumar-Singh R,
Humphries MM,
Sharp EM,
Sheils D,
Humphries P
Genomics
1992 Nov;14(3):805-7.
doi: 10.1016/s0888-7543(05)80193-4.
PMID: 1427912