Etiology
Testa F,
Murro V,
Signorini S,
Colombo L,
Iarossi G,
Parmeggiani F,
Falsini B,
Salvetti AP,
Brunetti-Pierri R,
Aprile G,
Bertone C,
Suppiej A,
Romano F,
Karali M,
Donati S,
Melillo P,
Sodi A,
Quaranta L,
Rossetti L,
Buzzonetti L,
Chizzolini M,
Rizzo S,
Staurenghi G,
Banfi S,
Azzolini C,
Simonelli F
Invest Ophthalmol Vis Sci
2022 Feb 1;63(2):13.
doi: 10.1167/iovs.63.2.13.
PMID: 35129589Free PMC Article
Brunetti-Pierri R,
Karali M,
Melillo P,
Di Iorio V,
De Benedictis A,
Iaccarino G,
Testa F,
Banfi S,
Simonelli F
Int J Mol Sci
2021 Feb 7;22(4)
doi: 10.3390/ijms22041681.
PMID: 33562422Free PMC Article
Wafa TT,
Faridi R,
King KA,
Zalewski C,
Yousaf R,
Schultz JM,
Morell RJ,
Muskett J,
Turriff A,
Tsilou E,
Griffith AJ,
Friedman TB,
Zein WM,
Brewer CC
Clin Genet
2021 Feb;99(2):226-235.
Epub 2020 Nov 3
doi: 10.1111/cge.13868.
PMID: 33089500Free PMC Article
Brown GC,
Brown RH,
Brown MM
Int Ophthalmol
1987 Oct;11(1):41-50.
doi: 10.1007/BF02027896.
PMID: 2447026
Sieving PA,
Fishman GA
Br J Ophthalmol
1978 Mar;62(3):163-7.
doi: 10.1136/bjo.62.3.163.
PMID: 638108Free PMC Article
Diagnosis
Soucy M,
Tanaka AJ,
Dharmadhikari A
Methods Mol Biol
2023;2560:41-66.
doi: 10.1007/978-1-0716-2651-1_4.
PMID: 36481882
Chertkof J,
Hufnagel RB,
Blain D,
Gropman AL,
Brooks BP
Ophthalmic Genet
2020 Oct;41(5):497-500.
Epub 2020 Aug 13
doi: 10.1080/13816810.2020.1799416.
PMID: 32787478Free PMC Article
Nguyen XT,
Talib M,
van Schooneveld MJ,
Brinks J,
Ten Brink J,
Florijn RJ,
Wijnholds J,
Verdijk RM,
Bergen AA,
Boon CJF
Int J Mol Sci
2020 Jan 28;21(3)
doi: 10.3390/ijms21030835.
PMID: 32012938Free PMC Article
Bravo-Gil N,
González-Del Pozo M,
Martín-Sánchez M,
Méndez-Vidal C,
Rodríguez-de la Rúa E,
Borrego S,
Antiñolo G
Sci Rep
2017 Feb 3;7:41937.
doi: 10.1038/srep41937.
PMID: 28157192Free PMC Article
De Laey JJ
Bull Soc Belge Ophtalmol
1991;241:41-50.
PMID: 1840995
Therapy
Ali S,
Baig S,
Wanninayake S,
da Silva Xavier G,
Dawson C,
Paisey R,
Geberhiwot T
Diabetes Obes Metab
2024 Mar;26(3):989-996.
Epub 2023 Dec 27
doi: 10.1111/dom.15398.
PMID: 38151964
Chertkof J,
Hufnagel RB,
Blain D,
Gropman AL,
Brooks BP
Ophthalmic Genet
2020 Oct;41(5):497-500.
Epub 2020 Aug 13
doi: 10.1080/13816810.2020.1799416.
PMID: 32787478Free PMC Article
Makuloluwa AK,
Dodeja R,
Georgiou M,
Gonzalez-Martin J,
Hagan R,
Madhusudhan S,
Michaelides M
Ophthalmic Genet
2020 Oct;41(5):451-456.
Epub 2020 Jun 25
doi: 10.1080/13816810.2020.1783689.
PMID: 32586184
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
Froger N,
Moutsimilli L,
Cadetti L,
Jammoul F,
Wang QP,
Fan Y,
Gaucher D,
Rosolen SG,
Neveux N,
Cynober L,
Sahel JA,
Picaud S
Prog Retin Eye Res
2014 Jul;41:44-63.
Epub 2014 Apr 8
doi: 10.1016/j.preteyeres.2014.03.001.
PMID: 24721186
Prognosis
Rao AR,
Nazir A,
Imtiaz S,
Paracha SA,
Waryah YM,
Ujjan ID,
Anwar I,
Iqbal A,
Santoni FA,
Shah I,
Gul K,
Baig HMA,
Waryah AM,
Antonarakis SE,
Ansar M
Genes (Basel)
2023 Feb 3;14(2)
doi: 10.3390/genes14020404.
PMID: 36833331Free PMC Article
Testa F,
Murro V,
Signorini S,
Colombo L,
Iarossi G,
Parmeggiani F,
Falsini B,
Salvetti AP,
Brunetti-Pierri R,
Aprile G,
Bertone C,
Suppiej A,
Romano F,
Karali M,
Donati S,
Melillo P,
Sodi A,
Quaranta L,
Rossetti L,
Buzzonetti L,
Chizzolini M,
Rizzo S,
Staurenghi G,
Banfi S,
Azzolini C,
Simonelli F
Invest Ophthalmol Vis Sci
2022 Feb 1;63(2):13.
doi: 10.1167/iovs.63.2.13.
PMID: 35129589Free PMC Article
Wafa TT,
Faridi R,
King KA,
Zalewski C,
Yousaf R,
Schultz JM,
Morell RJ,
Muskett J,
Turriff A,
Tsilou E,
Griffith AJ,
Friedman TB,
Zein WM,
Brewer CC
Clin Genet
2021 Feb;99(2):226-235.
Epub 2020 Nov 3
doi: 10.1111/cge.13868.
PMID: 33089500Free PMC Article
Chertkof J,
Hufnagel RB,
Blain D,
Gropman AL,
Brooks BP
Ophthalmic Genet
2020 Oct;41(5):497-500.
Epub 2020 Aug 13
doi: 10.1080/13816810.2020.1799416.
PMID: 32787478Free PMC Article
Vig A,
Poulter JA,
Ottaviani D,
Tavares E,
Toropova K,
Tracewska AM,
Mollica A,
Kang J,
Kehelwathugoda O,
Paton T,
Maynes JT,
Wheway G,
Arno G;
Genomics England Research Consortium,
Khan KN,
McKibbin M,
Toomes C,
Ali M,
Di Scipio M,
Li S,
Ellingford J,
Black G,
Webster A,
Rydzanicz M,
Stawiński P,
Płoski R,
Vincent A,
Cheetham ME,
Inglehearn CF,
Roberts A,
Heon E
Genet Med
2020 Dec;22(12):2041-2051.
Epub 2020 Aug 5
doi: 10.1038/s41436-020-0915-1.
PMID: 32753734Free PMC Article
Clinical prediction guides
Rao AR,
Nazir A,
Imtiaz S,
Paracha SA,
Waryah YM,
Ujjan ID,
Anwar I,
Iqbal A,
Santoni FA,
Shah I,
Gul K,
Baig HMA,
Waryah AM,
Antonarakis SE,
Ansar M
Genes (Basel)
2023 Feb 3;14(2)
doi: 10.3390/genes14020404.
PMID: 36833331Free PMC Article
Brunetti-Pierri R,
Karali M,
Melillo P,
Di Iorio V,
De Benedictis A,
Iaccarino G,
Testa F,
Banfi S,
Simonelli F
Int J Mol Sci
2021 Feb 7;22(4)
doi: 10.3390/ijms22041681.
PMID: 33562422Free PMC Article
Vig A,
Poulter JA,
Ottaviani D,
Tavares E,
Toropova K,
Tracewska AM,
Mollica A,
Kang J,
Kehelwathugoda O,
Paton T,
Maynes JT,
Wheway G,
Arno G;
Genomics England Research Consortium,
Khan KN,
McKibbin M,
Toomes C,
Ali M,
Di Scipio M,
Li S,
Ellingford J,
Black G,
Webster A,
Rydzanicz M,
Stawiński P,
Płoski R,
Vincent A,
Cheetham ME,
Inglehearn CF,
Roberts A,
Heon E
Genet Med
2020 Dec;22(12):2041-2051.
Epub 2020 Aug 5
doi: 10.1038/s41436-020-0915-1.
PMID: 32753734Free PMC Article
Nguyen XT,
Talib M,
van Schooneveld MJ,
Brinks J,
Ten Brink J,
Florijn RJ,
Wijnholds J,
Verdijk RM,
Bergen AA,
Boon CJF
Int J Mol Sci
2020 Jan 28;21(3)
doi: 10.3390/ijms21030835.
PMID: 32012938Free PMC Article
Froger N,
Moutsimilli L,
Cadetti L,
Jammoul F,
Wang QP,
Fan Y,
Gaucher D,
Rosolen SG,
Neveux N,
Cynober L,
Sahel JA,
Picaud S
Prog Retin Eye Res
2014 Jul;41:44-63.
Epub 2014 Apr 8
doi: 10.1016/j.preteyeres.2014.03.001.
PMID: 24721186