Etiology
Cortinhal T,
Santos C,
Vaz-Pereira S,
Marta A,
Duarte L,
Miranda V,
Costa J,
Sousa AB,
Peter VG,
Kaminska K,
Rivolta C,
Carvalho AL,
Saraiva J,
Soares CA,
Silva R,
Murta J,
Santos LC,
Marques JP
Graefes Arch Clin Exp Ophthalmol
2024 Jun;262(6):1883-1897.
Epub 2024 Jan 8
doi: 10.1007/s00417-023-06360-2.
PMID: 38189974Free PMC Article
Daich Varela M,
Wong SW,
Kiray G,
Schlottmann PG,
Arno G,
Shams ANA,
Mahroo OA,
Webster AR,
AlTalbishi A,
Michaelides M
Am J Ophthalmol
2023 Dec;256:186-195.
Epub 2023 Jul 7
doi: 10.1016/j.ajo.2023.06.026.
PMID: 37422204Free PMC Article
Della Volpe Waizel M,
Scholl HPN,
Todorova MG
Acta Ophthalmol
2021 Dec;99(8):e1396-e1404.
Epub 2021 May 10
doi: 10.1111/aos.14828.
PMID: 33973369
Xu K,
Xie Y,
Sun T,
Zhang X,
Chen C,
Li Y
Br J Ophthalmol
2020 Jul;104(7):932-937.
Epub 2019 Oct 19
doi: 10.1136/bjophthalmol-2019-314281.
PMID: 31630094
Le Quesne Stabej P,
Saihan Z,
Rangesh N,
Steele-Stallard HB,
Ambrose J,
Coffey A,
Emmerson J,
Haralambous E,
Hughes Y,
Steel KP,
Luxon LM,
Webster AR,
Bitner-Glindzicz M
J Med Genet
2012 Jan;49(1):27-36.
Epub 2011 Dec 1
doi: 10.1136/jmedgenet-2011-100468.
PMID: 22135276Free PMC Article
Diagnosis
Cortinhal T,
Santos C,
Vaz-Pereira S,
Marta A,
Duarte L,
Miranda V,
Costa J,
Sousa AB,
Peter VG,
Kaminska K,
Rivolta C,
Carvalho AL,
Saraiva J,
Soares CA,
Silva R,
Murta J,
Santos LC,
Marques JP
Graefes Arch Clin Exp Ophthalmol
2024 Jun;262(6):1883-1897.
Epub 2024 Jan 8
doi: 10.1007/s00417-023-06360-2.
PMID: 38189974Free PMC Article
Daich Varela M,
Wong SW,
Kiray G,
Schlottmann PG,
Arno G,
Shams ANA,
Mahroo OA,
Webster AR,
AlTalbishi A,
Michaelides M
Am J Ophthalmol
2023 Dec;256:186-195.
Epub 2023 Jul 7
doi: 10.1016/j.ajo.2023.06.026.
PMID: 37422204Free PMC Article
Della Volpe Waizel M,
Scholl HPN,
Todorova MG
Acta Ophthalmol
2021 Dec;99(8):e1396-e1404.
Epub 2021 May 10
doi: 10.1111/aos.14828.
PMID: 33973369
North V,
Gelman R,
Tsang SH
Dev Ophthalmol
2014;53:44-52.
Epub 2014 Apr 10
doi: 10.1159/000357293.
PMID: 24732760Free PMC Article
Zarbin M,
Montemagno C,
Leary J,
Ritch R
Panminerva Med
2011 Sep;53(3):167-77.
PMID: 21775943
Therapy
Leung EH,
Levie-Sprick A,
Sharma S,
Lee GD,
Cho H,
Yee DC,
Mukkamala K
Ophthalmic Surg Lasers Imaging Retina
2023 Jul;54(7):388-394.
Epub 2023 Jun 1
doi: 10.3928/23258160-20230522-02.
PMID: 37310751
Jackson DJ,
Dubis AM,
Moosajee M
Int J Mol Sci
2022 Jun 17;23(12)
doi: 10.3390/ijms23126785.
PMID: 35743231Free PMC Article
Dizdar Yigit D,
Sevik MO,
Şahin Ö
Retina
2022 May 1;42(5):923-933.
doi: 10.1097/IAE.0000000000003386.
PMID: 34923514
Roberts PA,
Gaffney EA,
Luthert PJ,
Foss AJE,
Byrne HM
J Theor Biol
2017 Jul 21;425:53-71.
Epub 2017 May 6
doi: 10.1016/j.jtbi.2017.05.006.
PMID: 28483568
Steigerwalt RD Jr,
Cesarone MR,
Pascarella A,
De Angelis M,
Nebbioso M,
Belcaro G,
Feragalli B
Panminerva Med
2011 Sep;53(3 Suppl 1):119-24.
PMID: 22108487
Prognosis
Cortinhal T,
Santos C,
Vaz-Pereira S,
Marta A,
Duarte L,
Miranda V,
Costa J,
Sousa AB,
Peter VG,
Kaminska K,
Rivolta C,
Carvalho AL,
Saraiva J,
Soares CA,
Silva R,
Murta J,
Santos LC,
Marques JP
Graefes Arch Clin Exp Ophthalmol
2024 Jun;262(6):1883-1897.
Epub 2024 Jan 8
doi: 10.1007/s00417-023-06360-2.
PMID: 38189974Free PMC Article
Li YK,
Xie YJ,
Wu DC,
Long SL,
Tang S,
Mo ZC
Int J Oncol
2018 Nov;53(5):1827-1835.
Epub 2018 Aug 9
doi: 10.3892/ijo.2018.4520.
PMID: 30106141
Roberts PA,
Gaffney EA,
Luthert PJ,
Foss AJE,
Byrne HM
Prog Retin Eye Res
2016 Jul;53:48-69.
Epub 2016 Apr 7
doi: 10.1016/j.preteyeres.2016.04.001.
PMID: 27063291
North V,
Gelman R,
Tsang SH
Dev Ophthalmol
2014;53:44-52.
Epub 2014 Apr 10
doi: 10.1159/000357293.
PMID: 24732760Free PMC Article
Wert KJ,
Lin JH,
Tsang SH
Dev Ophthalmol
2014;53:33-43.
Epub 2014 Apr 10
doi: 10.1159/000357294.
PMID: 24732759Free PMC Article
Clinical prediction guides
Heon E,
Melia M,
Bocchino LE,
Samarakoon L,
Duncan JL,
Ayala AR,
Audo I,
Bradley C,
Cheetham JK,
Dagnelie G,
Durham TA,
Hoyng CB,
Jain N,
Jayasundera KT,
Pennesi ME,
Weng CY;
Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol
2024 Apr;260:200-211.
Epub 2023 Dec 21
doi: 10.1016/j.ajo.2023.12.009.
PMID: 38135239
Bianco L,
Arrigo A,
Antropoli A,
Del Fabbro S,
Panina-Bordignon P,
Peri C,
Brambilla E,
Pina A,
Basile G,
Hassan Farah R,
Saladino A,
Aragona E,
Cascavilla ML,
Bandello F,
Battaglia Parodi M,
Pulido JS
Invest Ophthalmol Vis Sci
2023 Dec 1;64(15):13.
doi: 10.1167/iovs.64.15.13.
PMID: 38088826Free PMC Article
Kim JH,
Han JW,
Choi EW,
Bang JH,
Shin HJ,
Jang MA,
Lee JY,
Choi JN,
Chang HS,
Park TK
J Korean Med Sci
2022 Jan 17;37(3):e5.
doi: 10.3346/jkms.2022.37.e5.
PMID: 35040292Free PMC Article
Roberts PA,
Gaffney EA,
Luthert PJ,
Foss AJE,
Byrne HM
Prog Retin Eye Res
2016 Jul;53:48-69.
Epub 2016 Apr 7
doi: 10.1016/j.preteyeres.2016.04.001.
PMID: 27063291
Le Quesne Stabej P,
Saihan Z,
Rangesh N,
Steele-Stallard HB,
Ambrose J,
Coffey A,
Emmerson J,
Haralambous E,
Hughes Y,
Steel KP,
Luxon LM,
Webster AR,
Bitner-Glindzicz M
J Med Genet
2012 Jan;49(1):27-36.
Epub 2011 Dec 1
doi: 10.1136/jmedgenet-2011-100468.
PMID: 22135276Free PMC Article