Etiology
Duncan JL,
Liang W,
Maguire MG,
Porco TC,
Wong J,
Audo I,
Cava JA,
Grieve K,
Kalitzeos A,
Kreis J,
Michaelides M,
Norberg N,
Paques M,
Carroll J;
Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol
2023 Aug;252:77-93.
Epub 2023 Mar 21
doi: 10.1016/j.ajo.2023.03.006.
PMID: 36948373Free PMC Article
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
McConnachie DJ,
Stow JL,
Mallett AJ
Am J Kidney Dis
2021 Mar;77(3):410-419.
Epub 2020 Oct 9
doi: 10.1053/j.ajkd.2020.08.012.
PMID: 33039432
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
Jiang F,
Pan Z,
Xu K,
Tian L,
Xie Y,
Zhang X,
Chen J,
Dong B,
Li Y
Invest Ophthalmol Vis Sci
2016 Jan 1;57(1):145-52.
doi: 10.1167/iovs.15-18190.
PMID: 26780318
Diagnosis
Duncan JL,
Liang W,
Maguire MG,
Porco TC,
Wong J,
Audo I,
Cava JA,
Grieve K,
Kalitzeos A,
Kreis J,
Michaelides M,
Norberg N,
Paques M,
Carroll J;
Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol
2023 Aug;252:77-93.
Epub 2023 Mar 21
doi: 10.1016/j.ajo.2023.03.006.
PMID: 36948373Free PMC Article
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
Jiang F,
Pan Z,
Xu K,
Tian L,
Xie Y,
Zhang X,
Chen J,
Dong B,
Li Y
Invest Ophthalmol Vis Sci
2016 Jan 1;57(1):145-52.
doi: 10.1167/iovs.15-18190.
PMID: 26780318
Klysik M
Pathol Res Pract
2008;204(2):77-88.
doi: 10.1016/j.prp.2007.10.013.
PMID: 18312782
Jay B,
Bird A
Trans Am Acad Ophthalmol Otolaryngol
1973 Sep-Oct;77(5):OP641-51.
PMID: 4784907
Therapy
Comander J,
Weigel DiFranco C,
Sanderson K,
Place E,
Maher M,
Zampaglione E,
Zhao Y,
Huckfeldt RM,
Bujakowska KM,
Pierce E
JCI Insight
2023 Aug 8;8(15)
doi: 10.1172/jci.insight.167546.
PMID: 37261916Free PMC Article
Dizdar Yigit D,
Sevik MO,
Şahin Ö
Retina
2022 May 1;42(5):923-933.
doi: 10.1097/IAE.0000000000003386.
PMID: 34923514
Klassen H
Expert Opin Biol Ther
2016;16(1):7-14.
Epub 2015 Sep 28
doi: 10.1517/14712598.2016.1093110.
PMID: 26414165
Bergsma DR,
Wolf ML
Adv Exp Med Biol
1977;77:197-209.
doi: 10.1007/978-1-4899-5010-9_17.
PMID: 848392
Wolbarsht ML,
Landers MB 3rd,
Wadsworth JA,
Anderson WB Jr
Adv Exp Med Biol
1977;77:181-95.
doi: 10.1007/978-1-4899-5010-9_16.
PMID: 300550
Prognosis
Comander J,
Weigel DiFranco C,
Sanderson K,
Place E,
Maher M,
Zampaglione E,
Zhao Y,
Huckfeldt RM,
Bujakowska KM,
Pierce E
JCI Insight
2023 Aug 8;8(15)
doi: 10.1172/jci.insight.167546.
PMID: 37261916Free PMC Article
Dąbkowska S,
Kucińska-Chahwan A,
Beneturska A,
Ilnicka A,
Nowakowska B,
Panek G,
Roszkowski T,
Bijok J
Prenat Diagn
2020 Apr;40(5):612-617.
Epub 2020 Feb 12
doi: 10.1002/pd.5654.
PMID: 32003477
Jiang F,
Pan Z,
Xu K,
Tian L,
Xie Y,
Zhang X,
Chen J,
Dong B,
Li Y
Invest Ophthalmol Vis Sci
2016 Jan 1;57(1):145-52.
doi: 10.1167/iovs.15-18190.
PMID: 26780318
Hrynchak PK
Optom Vis Sci
2000 May;77(5):236-43.
doi: 10.1097/00006324-200005000-00010.
PMID: 10831213
Aubourg P,
Scotto J,
Rocchiccioli F,
Feldmann-Pautrat D,
Robain O
J Neurol Neurosurg Psychiatry
1986 Jan;49(1):77-86.
doi: 10.1136/jnnp.49.1.77.
PMID: 2420940Free PMC Article
Clinical prediction guides
Comander J,
Weigel DiFranco C,
Sanderson K,
Place E,
Maher M,
Zampaglione E,
Zhao Y,
Huckfeldt RM,
Bujakowska KM,
Pierce E
JCI Insight
2023 Aug 8;8(15)
doi: 10.1172/jci.insight.167546.
PMID: 37261916Free PMC Article
Howard DM,
Pain O,
Arathimos R,
Barbu MC,
Amador C,
Walker RM,
Jermy B,
Adams MJ,
Deary IJ,
Porteous D,
Campbell A,
Sullivan PF,
Evans KL,
Arseneault L,
Wray NR,
Meaney M,
McIntosh AM,
Lewis CM
Hum Mol Genet
2022 Feb 21;31(4):651-664.
doi: 10.1093/hmg/ddab274.
PMID: 34523677Free PMC Article
Kim YN,
Song JS,
Oh SH,
Kim YJ,
Yoon YH,
Seo EJ,
Seol CA,
Lee SM,
Choi JM,
Seo GH,
Keum C,
Lee BH,
Lee JY
Sci Rep
2020 Nov 11;10(1):19540.
doi: 10.1038/s41598-020-75902-z.
PMID: 33177553Free PMC Article
Lolak N,
Akocak S,
Bua S,
Koca M,
Supuran CT
Bioorg Chem
2018 Apr;77:542-547.
Epub 2018 Feb 15
doi: 10.1016/j.bioorg.2018.02.015.
PMID: 29462772
Lee SH,
Yu HG,
Seo JM,
Moon SW,
Moon JW,
Kim SJ,
Chung H
J Korean Med Sci
2010 Jun;25(6):918-23.
Epub 2010 May 24
doi: 10.3346/jkms.2010.25.6.918.
PMID: 20514315Free PMC Article