Etiology
Gupta N,
D'Acierno M,
Zona E,
Capasso G,
Zacchia M
Am J Med Genet C Semin Med Genet
2022 Mar;190(1):9-19.
Epub 2022 Apr 4
doi: 10.1002/ajmg.c.31970.
PMID: 35373910Free PMC Article
Mallmann MR,
Reutter H,
Mack-Detlefsen B,
Gottschalk I,
Geipel A,
Berg C,
Boemers TM,
Gembruch U
Fetal Diagn Ther
2019;45(1):62-68.
Epub 2018 Feb 23
doi: 10.1159/000486781.
PMID: 29478043
Dulz S,
Wagenfeld L,
Nickel M,
Richard G,
Schwartz R,
Bartsch U,
Kohlschütter A,
Schulz A
Br J Ophthalmol
2016 Jun;100(6):824-8.
Epub 2015 Oct 20
doi: 10.1136/bjophthalmol-2015-307320.
PMID: 26486417
Nishiguchi KM,
Rivolta C
PLoS One
2012;7(7):e41902.
Epub 2012 Jul 27
doi: 10.1371/journal.pone.0041902.
PMID: 22848652Free PMC Article
Lambert SR,
Kriss A,
Taylor D,
Coffey R,
Pembrey M
Am J Ophthalmol
1989 Jun 15;107(6):624-31.
doi: 10.1016/0002-9394(89)90259-6.
PMID: 2658617
Diagnosis
Gupta N,
D'Acierno M,
Zona E,
Capasso G,
Zacchia M
Am J Med Genet C Semin Med Genet
2022 Mar;190(1):9-19.
Epub 2022 Apr 4
doi: 10.1002/ajmg.c.31970.
PMID: 35373910Free PMC Article
Azad R,
Sinha S,
Nishant P
Indian J Ophthalmol
2021 Nov;69(11):3026-3034.
doi: 10.4103/ijo.IJO_1525_21.
PMID: 34708738Free PMC Article
Shoemark A,
Harman K
Semin Respir Crit Care Med
2021 Aug;42(4):537-548.
Epub 2021 Jul 14
doi: 10.1055/s-0041-1730919.
PMID: 34261178
Hamel C
Orphanet J Rare Dis
2006 Oct 11;1:40.
doi: 10.1186/1750-1172-1-40.
PMID: 17032466Free PMC Article
Lambert SR,
Kriss A,
Taylor D,
Coffey R,
Pembrey M
Am J Ophthalmol
1989 Jun 15;107(6):624-31.
doi: 10.1016/0002-9394(89)90259-6.
PMID: 2658617
Therapy
Chen Y,
Pan Y,
Xie Y,
Shi Y,
Lu Y,
Xia Y,
Su W,
Chen X,
Li Z,
Wang M,
Miao S,
Yang Y,
Jin C,
Luo G,
Long S,
Xiao H,
Huang C,
Zhang J,
Liang D
Signal Transduct Target Ther
2024 Dec 4;9(1):339.
doi: 10.1038/s41392-024-02037-2.
PMID: 39627217Free PMC Article
Shoemark A,
Harman K
Semin Respir Crit Care Med
2021 Aug;42(4):537-548.
Epub 2021 Jul 14
doi: 10.1055/s-0041-1730919.
PMID: 34261178
Rocco ML,
Soligo M,
Manni L,
Aloe L
Curr Neuropharmacol
2018;16(10):1455-1465.
doi: 10.2174/1570159X16666180412092859.
PMID: 29651949Free PMC Article
Stingl K,
Bartz-Schmidt KU,
Besch D,
Chee CK,
Cottriall CL,
Gekeler F,
Groppe M,
Jackson TL,
MacLaren RE,
Koitschev A,
Kusnyerik A,
Neffendorf J,
Nemeth J,
Naeem MA,
Peters T,
Ramsden JD,
Sachs H,
Simpson A,
Singh MS,
Wilhelm B,
Wong D,
Zrenner E
Vision Res
2015 Jun;111(Pt B):149-60.
Epub 2015 Mar 23
doi: 10.1016/j.visres.2015.03.001.
PMID: 25812924
Hartong DT,
Berson EL,
Dryja TP
Lancet
2006 Nov 18;368(9549):1795-809.
doi: 10.1016/S0140-6736(06)69740-7.
PMID: 17113430
Prognosis
Gupta N,
D'Acierno M,
Zona E,
Capasso G,
Zacchia M
Am J Med Genet C Semin Med Genet
2022 Mar;190(1):9-19.
Epub 2022 Apr 4
doi: 10.1002/ajmg.c.31970.
PMID: 35373910Free PMC Article
Dulz S,
Wagenfeld L,
Nickel M,
Richard G,
Schwartz R,
Bartsch U,
Kohlschütter A,
Schulz A
Br J Ophthalmol
2016 Jun;100(6):824-8.
Epub 2015 Oct 20
doi: 10.1136/bjophthalmol-2015-307320.
PMID: 26486417
Nishiguchi KM,
Rivolta C
PLoS One
2012;7(7):e41902.
Epub 2012 Jul 27
doi: 10.1371/journal.pone.0041902.
PMID: 22848652Free PMC Article
Hamel C
Orphanet J Rare Dis
2006 Oct 11;1:40.
doi: 10.1186/1750-1172-1-40.
PMID: 17032466Free PMC Article
Lambert SR,
Kriss A,
Taylor D,
Coffey R,
Pembrey M
Am J Ophthalmol
1989 Jun 15;107(6):624-31.
doi: 10.1016/0002-9394(89)90259-6.
PMID: 2658617
Clinical prediction guides
Gupta N,
D'Acierno M,
Zona E,
Capasso G,
Zacchia M
Am J Med Genet C Semin Med Genet
2022 Mar;190(1):9-19.
Epub 2022 Apr 4
doi: 10.1002/ajmg.c.31970.
PMID: 35373910Free PMC Article
Azad R,
Sinha S,
Nishant P
Indian J Ophthalmol
2021 Nov;69(11):3026-3034.
doi: 10.4103/ijo.IJO_1525_21.
PMID: 34708738Free PMC Article
Stingl K,
Bartz-Schmidt KU,
Besch D,
Chee CK,
Cottriall CL,
Gekeler F,
Groppe M,
Jackson TL,
MacLaren RE,
Koitschev A,
Kusnyerik A,
Neffendorf J,
Nemeth J,
Naeem MA,
Peters T,
Ramsden JD,
Sachs H,
Simpson A,
Singh MS,
Wilhelm B,
Wong D,
Zrenner E
Vision Res
2015 Jun;111(Pt B):149-60.
Epub 2015 Mar 23
doi: 10.1016/j.visres.2015.03.001.
PMID: 25812924
Nishiguchi KM,
Rivolta C
PLoS One
2012;7(7):e41902.
Epub 2012 Jul 27
doi: 10.1371/journal.pone.0041902.
PMID: 22848652Free 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