Etiology
Heath Jeffery RC,
Thompson JA,
Lo J,
Chelva ES,
Armstrong S,
Pulido JS,
Procopio R,
Vincent AL,
Bianco L,
Battaglia Parodi M,
Ziccardi L,
Antonelli G,
Barbano L,
Marques JP,
Geada S,
Carvalho AL,
Tang WC,
Chan CM,
Boon CJF,
Hensman J,
Chen TC,
Lin CY,
Chen PL,
Vincent A,
Tumber A,
Heon E,
Grigg JR,
Jamieson RV,
Cornish EE,
Nash BM,
Borooah S,
Ayton LN,
Britten-Jones AC,
Edwards TL,
Ruddle JB,
Sharma A,
Porter RG,
Lamey TM,
McLaren TL,
McLenachan S,
Roshandel D,
Chen FK
Invest Ophthalmol Vis Sci
2024 May 1;65(5):22.
doi: 10.1167/iovs.65.5.22.
PMID: 38743414Free PMC Article
Ruiz-Pastor MJ,
Sánchez-Sáez X,
Kutsyr O,
Albertos-Arranz H,
Sánchez-Castillo C,
Ortuño-Lizarán I,
Martínez-Gil N,
Vidal-Gil L,
Méndez L,
Sánchez-Martín M,
Maneu V,
Lax P,
Cuenca N
Cell Death Dis
2023 Nov 1;14(11):711.
doi: 10.1038/s41419-023-06243-8.
PMID: 37914688Free PMC Article
Weisschuh N,
Obermaier CD,
Battke F,
Bernd A,
Kuehlewein L,
Nasser F,
Zobor D,
Zrenner E,
Weber E,
Wissinger B,
Biskup S,
Stingl K,
Kohl S
Hum Mutat
2020 Sep;41(9):1514-1527.
Epub 2020 Jun 29
doi: 10.1002/humu.24064.
PMID: 32531858
Bax NM,
Valkenburg D,
Lambertus S,
Klevering BJ,
Boon CJF,
Holz FG,
Cremers FPM,
Fleckenstein M,
Hoyng CB,
Lindner M;
Foveal Sparing Atrophy Study Team (FAST)
Invest Ophthalmol Vis Sci
2019 Aug 1;60(10):3456-3467.
doi: 10.1167/iovs.18-26533.
PMID: 31398255
Forte R,
Aptel F,
Feldmann A,
Chiquet C
Retin Cases Brief Rep
2018 Winter;12(1):29-32.
doi: 10.1097/ICB.0000000000000400.
PMID: 27579567
Diagnosis
Bommakanti N,
Besirli CG,
Zhao PY
JAMA Ophthalmol
2023 Jan 1;141(1):102-104.
doi: 10.1001/jamaophthalmol.2022.5269.
PMID: 36480192
Weisschuh N,
Obermaier CD,
Battke F,
Bernd A,
Kuehlewein L,
Nasser F,
Zobor D,
Zrenner E,
Weber E,
Wissinger B,
Biskup S,
Stingl K,
Kohl S
Hum Mutat
2020 Sep;41(9):1514-1527.
Epub 2020 Jun 29
doi: 10.1002/humu.24064.
PMID: 32531858
Gala JM,
Narayanan R
BMJ Case Rep
2019 Oct 23;12(10)
doi: 10.1136/bcr-2019-230495.
PMID: 31645393Free PMC Article
Ghodasra DH,
Besirli C
JAMA Ophthalmol
2015 Dec;133(12):e152148.
Epub 2015 Dec 10
doi: 10.1001/jamaophthalmol.2015.2148.
PMID: 26659444
Greve EL,
Furuno F
Albrecht Von Graefes Arch Klin Exp Ophthalmol
1980;213(1):33-41.
doi: 10.1007/BF02391209.
PMID: 6906144
Therapy
da Palma MM,
Ku C,
Igelman AD,
Burr A,
Shevchenko Sutherland L,
Koerner C,
Valle D,
Pennesi ME,
Yang P
Ophthalmic Genet
2023 Apr;44(2):191-197.
Epub 2022 Jul 20
doi: 10.1080/13816810.2022.2098986.
PMID: 35856163
Smailhodzic D,
Fleckenstein M,
Theelen T,
Boon CJ,
van Huet RA,
van de Ven JP,
Den Hollander AI,
Schmitz-Valckenberg S,
Hoyng CB,
Weber BH,
Holz FG,
Klevering BJ
Invest Ophthalmol Vis Sci
2011 Nov 21;52(12):8908-18.
doi: 10.1167/iovs.11-7926.
PMID: 22003107
Chisholm IH,
Gass JD,
Hutton WL
Am J Ophthalmol
1976 Sep;82(3):343-51.
doi: 10.1016/0002-9394(76)90482-7.
PMID: 961787
Prognosis
Bax NM,
Valkenburg D,
Lambertus S,
Klevering BJ,
Boon CJF,
Holz FG,
Cremers FPM,
Fleckenstein M,
Hoyng CB,
Lindner M;
Foveal Sparing Atrophy Study Team (FAST)
Invest Ophthalmol Vis Sci
2019 Aug 1;60(10):3456-3467.
doi: 10.1167/iovs.18-26533.
PMID: 31398255
Kersten E,
Geerlings MJ,
Pauper M,
Corominas J,
Bakker B,
Altay L,
Fauser S,
de Jong EK,
Hoyng CB,
den Hollander AI
Clin Genet
2018 Dec;94(6):569-574.
Epub 2018 Oct 15
doi: 10.1111/cge.13447.
PMID: 30215852Free PMC Article
Forte R,
Aptel F,
Feldmann A,
Chiquet C
Retin Cases Brief Rep
2018 Winter;12(1):29-32.
doi: 10.1097/ICB.0000000000000400.
PMID: 27579567
Boon CJ,
Klevering BJ,
Cremers FP,
Zonneveld-Vrieling MN,
Theelen T,
Den Hollander AI,
Hoyng CB
Ophthalmology
2009 Apr;116(4):771-82, 782.e1.
Epub 2009 Feb 25
doi: 10.1016/j.ophtha.2008.12.019.
PMID: 19243827
Greve EL,
Furuno F
Albrecht Von Graefes Arch Klin Exp Ophthalmol
1980;213(1):33-41.
doi: 10.1007/BF02391209.
PMID: 6906144
Clinical prediction guides
Heath Jeffery RC,
Thompson JA,
Lo J,
Chelva ES,
Armstrong S,
Pulido JS,
Procopio R,
Vincent AL,
Bianco L,
Battaglia Parodi M,
Ziccardi L,
Antonelli G,
Barbano L,
Marques JP,
Geada S,
Carvalho AL,
Tang WC,
Chan CM,
Boon CJF,
Hensman J,
Chen TC,
Lin CY,
Chen PL,
Vincent A,
Tumber A,
Heon E,
Grigg JR,
Jamieson RV,
Cornish EE,
Nash BM,
Borooah S,
Ayton LN,
Britten-Jones AC,
Edwards TL,
Ruddle JB,
Sharma A,
Porter RG,
Lamey TM,
McLaren TL,
McLenachan S,
Roshandel D,
Chen FK
Invest Ophthalmol Vis Sci
2024 May 1;65(5):22.
doi: 10.1167/iovs.65.5.22.
PMID: 38743414Free PMC Article
Ruiz-Pastor MJ,
Sánchez-Sáez X,
Kutsyr O,
Albertos-Arranz H,
Sánchez-Castillo C,
Ortuño-Lizarán I,
Martínez-Gil N,
Vidal-Gil L,
Méndez L,
Sánchez-Martín M,
Maneu V,
Lax P,
Cuenca N
Cell Death Dis
2023 Nov 1;14(11):711.
doi: 10.1038/s41419-023-06243-8.
PMID: 37914688Free PMC Article
Forte R,
Aptel F,
Feldmann A,
Chiquet C
Retin Cases Brief Rep
2018 Winter;12(1):29-32.
doi: 10.1097/ICB.0000000000000400.
PMID: 27579567
Boon CJ,
Klevering BJ,
Cremers FP,
Zonneveld-Vrieling MN,
Theelen T,
Den Hollander AI,
Hoyng CB
Ophthalmology
2009 Apr;116(4):771-82, 782.e1.
Epub 2009 Feb 25
doi: 10.1016/j.ophtha.2008.12.019.
PMID: 19243827
Greve EL,
Furuno F
Albrecht Von Graefes Arch Klin Exp Ophthalmol
1980;213(1):33-41.
doi: 10.1007/BF02391209.
PMID: 6906144