Etiology
Jiang Y,
Yi Z,
Zheng Y,
Ouyang J,
Guo D,
Li S,
Xiao X,
Wang P,
Sun W,
Zhang Q
Invest Ophthalmol Vis Sci
2024 Aug 1;65(10):46.
doi: 10.1167/iovs.65.10.46.
PMID: 39212610Free PMC Article
Fries FN,
Náray A,
Munteanu C,
Stachon T,
Lagali N,
Seitz B,
Szentmáry N,
Käsmann-Kellner B
Klin Monbl Augenheilkd
2024 Mar;241(3):275-282.
Epub 2023 Aug 30
doi: 10.1055/a-2065-8405.
PMID: 37647922Free PMC Article
Daruich A,
Robert MP,
Leroy C,
DE Vergnes N,
Beugnet C,
Malan V,
Valleix S,
Bremond-Gignac D
Am J Ophthalmol
2022 May;237:122-129.
Epub 2021 Dec 20
doi: 10.1016/j.ajo.2021.12.007.
PMID: 34942114
You B,
Zhang X,
Xu K,
Xie Y,
Ye H,
Li Y
Mol Vis
2020;26:226-234.
Epub 2020 Mar 26
PMID: 32214788Free PMC Article
Rao A,
Padhy D,
Sarangi S,
Das G
Semin Ophthalmol
2018;33(3):300-307.
Epub 2016 Dec 8
doi: 10.1080/08820538.2016.1208767.
PMID: 27929720
Diagnosis
Kuht HJ,
Maconachie GDE,
Han J,
Kessel L,
van Genderen MM,
McLean RJ,
Hisaund M,
Tu Z,
Hertle RW,
Gronskov K,
Bai D,
Wei A,
Li W,
Jiao Y,
Smirnov V,
Choi JH,
Tobin MD,
Sheth V,
Purohit R,
Dawar B,
Girach A,
Strul S,
May L,
Chen FK,
Heath Jeffery RC,
Aamir A,
Sano R,
Jin J,
Brooks BP,
Kohl S,
Arveiler B,
Montoliu L,
Engle EC,
Proudlock FA,
Nishad G,
Pani P,
Varma G,
Gottlob I,
Thomas MG
Ophthalmology
2022 Jun;129(6):708-718.
Epub 2022 Feb 11
doi: 10.1016/j.ophtha.2022.02.010.
PMID: 35157951Free PMC Article
Thomas MG,
Papageorgiou E,
Kuht HJ,
Gottlob I
Br J Ophthalmol
2022 May;106(5):593-599.
Epub 2020 Nov 4
doi: 10.1136/bjophthalmol-2020-316348.
PMID: 33148537
Blanco-Kelly F,
Tarilonte M,
Villamar M,
Damián A,
Tamayo A,
Moreno-Pelayo MA,
Ayuso C,
Cortón M
Arch Soc Esp Oftalmol (Engl Ed)
2021 Nov;96 Suppl 1:4-14.
Epub 2021 Oct 22
doi: 10.1016/j.oftale.2021.02.002.
PMID: 34836588
Brinckmann A,
Rüther K,
Williamson K,
Lorenz B,
Lucke B,
Nürnberg P,
Trijbels F,
Janssen A,
Schuelke M
J Mol Med (Berl)
2007 Feb;85(2):163-8.
Epub 2006 Oct 10
doi: 10.1007/s00109-006-0112-y.
PMID: 17031679
Delleman JW,
Winkelman JE
Klin Monbl Augenheilkd
1973 Nov;163(5):528-42.
PMID: 4782857
Prognosis
Kuht HJ,
Maconachie GDE,
Han J,
Kessel L,
van Genderen MM,
McLean RJ,
Hisaund M,
Tu Z,
Hertle RW,
Gronskov K,
Bai D,
Wei A,
Li W,
Jiao Y,
Smirnov V,
Choi JH,
Tobin MD,
Sheth V,
Purohit R,
Dawar B,
Girach A,
Strul S,
May L,
Chen FK,
Heath Jeffery RC,
Aamir A,
Sano R,
Jin J,
Brooks BP,
Kohl S,
Arveiler B,
Montoliu L,
Engle EC,
Proudlock FA,
Nishad G,
Pani P,
Varma G,
Gottlob I,
Thomas MG
Ophthalmology
2022 Jun;129(6):708-718.
Epub 2022 Feb 11
doi: 10.1016/j.ophtha.2022.02.010.
PMID: 35157951Free PMC Article
Daruich A,
Robert MP,
Leroy C,
DE Vergnes N,
Beugnet C,
Malan V,
Valleix S,
Bremond-Gignac D
Am J Ophthalmol
2022 May;237:122-129.
Epub 2021 Dec 20
doi: 10.1016/j.ajo.2021.12.007.
PMID: 34942114
Thomas MG,
Papageorgiou E,
Kuht HJ,
Gottlob I
Br J Ophthalmol
2022 May;106(5):593-599.
Epub 2020 Nov 4
doi: 10.1136/bjophthalmol-2020-316348.
PMID: 33148537
Brinckmann A,
Rüther K,
Williamson K,
Lorenz B,
Lucke B,
Nürnberg P,
Trijbels F,
Janssen A,
Schuelke M
J Mol Med (Berl)
2007 Feb;85(2):163-8.
Epub 2006 Oct 10
doi: 10.1007/s00109-006-0112-y.
PMID: 17031679
Delleman JW,
Winkelman JE
Klin Monbl Augenheilkd
1973 Nov;163(5):528-42.
PMID: 4782857
Clinical prediction guides
Boehm BO,
Kratzer W,
Bansal V
Eur J Hum Genet
2023 Jan;31(1):89-96.
Epub 2022 Oct 7
doi: 10.1038/s41431-022-01182-y.
PMID: 36202929Free PMC Article
Kuht HJ,
Maconachie GDE,
Han J,
Kessel L,
van Genderen MM,
McLean RJ,
Hisaund M,
Tu Z,
Hertle RW,
Gronskov K,
Bai D,
Wei A,
Li W,
Jiao Y,
Smirnov V,
Choi JH,
Tobin MD,
Sheth V,
Purohit R,
Dawar B,
Girach A,
Strul S,
May L,
Chen FK,
Heath Jeffery RC,
Aamir A,
Sano R,
Jin J,
Brooks BP,
Kohl S,
Arveiler B,
Montoliu L,
Engle EC,
Proudlock FA,
Nishad G,
Pani P,
Varma G,
Gottlob I,
Thomas MG
Ophthalmology
2022 Jun;129(6):708-718.
Epub 2022 Feb 11
doi: 10.1016/j.ophtha.2022.02.010.
PMID: 35157951Free PMC Article
Thomas MG,
Papageorgiou E,
Kuht HJ,
Gottlob I
Br J Ophthalmol
2022 May;106(5):593-599.
Epub 2020 Nov 4
doi: 10.1136/bjophthalmol-2020-316348.
PMID: 33148537
Lee H,
Sheth V,
Bibi M,
Maconachie G,
Patel A,
McLean RJ,
Michaelides M,
Thomas MG,
Proudlock FA,
Gottlob I
Ophthalmology
2013 Dec;120(12):2714-2724.
Epub 2013 Oct 22
doi: 10.1016/j.ophtha.2013.07.018.
PMID: 24161406
Brinckmann A,
Rüther K,
Williamson K,
Lorenz B,
Lucke B,
Nürnberg P,
Trijbels F,
Janssen A,
Schuelke M
J Mol Med (Berl)
2007 Feb;85(2):163-8.
Epub 2006 Oct 10
doi: 10.1007/s00109-006-0112-y.
PMID: 17031679