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
Bhardwaj A,
Yadav A,
Yadav M,
Tanwar M
Indian J Ophthalmol
2022 Jul;70(7):2355-2385.
doi: 10.4103/ijo.IJO_46_22.
PMID: 35791117Free PMC Article
Zhu T,
Chen DF,
Wang L,
Wu S,
Wei X,
Li H,
Jin ZB,
Sui R
Br J Ophthalmol
2021 May;105(5):694-703.
Epub 2020 Jul 16
doi: 10.1136/bjophthalmol-2019-315786.
PMID: 32675063
Verbakel SK,
van Huet RAC,
Boon CJF,
den Hollander AI,
Collin RWJ,
Klaver CCW,
Hoyng CB,
Roepman R,
Klevering BJ
Prog Retin Eye Res
2018 Sep;66:157-186.
Epub 2018 Mar 27
doi: 10.1016/j.preteyeres.2018.03.005.
PMID: 29597005
McGee TL,
Seyedahmadi BJ,
Sweeney MO,
Dryja TP,
Berson EL
J Med Genet
2010 Jul;47(7):499-506.
Epub 2010 May 27
doi: 10.1136/jmg.2009.075143.
PMID: 20507924Free 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
Bhardwaj A,
Yadav A,
Yadav M,
Tanwar M
Indian J Ophthalmol
2022 Jul;70(7):2355-2385.
doi: 10.4103/ijo.IJO_46_22.
PMID: 35791117Free PMC Article
Chen L,
Wang N,
Lai M,
Hou F,
He J,
Fan X,
Yao X,
Wang R
Exp Biol Med (Maywood)
2022 Jun;247(12):1030-1038.
Epub 2022 Apr 11
doi: 10.1177/15353702221085711.
PMID: 35410501Free PMC Article
Verbakel SK,
van Huet RAC,
Boon CJF,
den Hollander AI,
Collin RWJ,
Klaver CCW,
Hoyng CB,
Roepman R,
Klevering BJ
Prog Retin Eye Res
2018 Sep;66:157-186.
Epub 2018 Mar 27
doi: 10.1016/j.preteyeres.2018.03.005.
PMID: 29597005
McGee TL,
Seyedahmadi BJ,
Sweeney MO,
Dryja TP,
Berson EL
J Med Genet
2010 Jul;47(7):499-506.
Epub 2010 May 27
doi: 10.1136/jmg.2009.075143.
PMID: 20507924Free PMC Article
Therapy
Dulla K,
Slijkerman R,
van Diepen HC,
Albert S,
Dona M,
Beumer W,
Turunen JJ,
Chan HL,
Schulkens IA,
Vorthoren L,
den Besten C,
Buil L,
Schmidt I,
Miao J,
Venselaar H,
Zang J,
Neuhauss SCF,
Peters T,
Broekman S,
Pennings R,
Kremer H,
Platenburg G,
Adamson P,
de Vrieze E,
van Wijk E
Mol Ther
2021 Aug 4;29(8):2441-2455.
Epub 2021 Apr 23
doi: 10.1016/j.ymthe.2021.04.024.
PMID: 33895329Free PMC Article
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
Feenstra HM,
Al-Khuzaei S,
Shah M,
Broadgate S,
Shanks M,
Kamath A,
Yu J,
Jolly JK,
MacLaren RE,
Clouston P,
Halford S,
Downes SM
Genes (Basel)
2022 Aug 10;13(8)
doi: 10.3390/genes13081423.
PMID: 36011334Free PMC Article
Bhardwaj A,
Yadav A,
Yadav M,
Tanwar M
Indian J Ophthalmol
2022 Jul;70(7):2355-2385.
doi: 10.4103/ijo.IJO_46_22.
PMID: 35791117Free PMC Article
Dulla K,
Slijkerman R,
van Diepen HC,
Albert S,
Dona M,
Beumer W,
Turunen JJ,
Chan HL,
Schulkens IA,
Vorthoren L,
den Besten C,
Buil L,
Schmidt I,
Miao J,
Venselaar H,
Zang J,
Neuhauss SCF,
Peters T,
Broekman S,
Pennings R,
Kremer H,
Platenburg G,
Adamson P,
de Vrieze E,
van Wijk E
Mol Ther
2021 Aug 4;29(8):2441-2455.
Epub 2021 Apr 23
doi: 10.1016/j.ymthe.2021.04.024.
PMID: 33895329Free PMC Article
Abu Safieh L,
Aldahmesh MA,
Shamseldin H,
Hashem M,
Shaheen R,
Alkuraya H,
Al Hazzaa SA,
Al-Rajhi A,
Alkuraya FS
J Med Genet
2010 Apr;47(4):236-41.
Epub 2009 Oct 26
doi: 10.1136/jmg.2009.070755.
PMID: 19858128
Clinical prediction guides
Antropoli A,
Arrigo A,
Caprara C,
Bianco L,
Mercuri S,
Berni A,
Passerini I,
Gambarotta S,
Sodi A,
Bandello F,
Murro V,
Parodi MB
Eur J Ophthalmol
2025 Jan;35(1):106-111.
Epub 2024 Apr 11
doi: 10.1177/11206721241247421.
PMID: 38602021Free PMC Article
Malka S,
Biswas P,
Berry AM,
Sangermano R,
Ullah M,
Lin S,
D'Antonio M,
Jestin A,
Jiao X,
Quinodoz M,
Sullivan L,
Gardner JC,
Place EM,
Michaelides M,
Kaminska K,
Mahroo OA,
Schiff E,
Wright G,
Cancellieri F,
Vaclavik V,
Santos C,
Rehman AU,
Mehrotra S,
Azhar Baig HM,
Iqbal M,
Ansar M,
Santos LC,
Sousa AB,
Tran VH,
Matsui H,
Bhatia A,
Naeem MA,
Akram SJ,
Akram J,
Riazuddin S,
Ayuso C,
Pierce EA,
Hardcastle AJ,
Riazuddin SA,
Frazer KA,
Hejtmancik JF,
Rivolta C,
Bujakowska KM,
Arno G,
Webster AR,
Ayyagari R
Am J Hum Genet
2024 Sep 5;111(9):2012-2030.
Epub 2024 Aug 26
doi: 10.1016/j.ajhg.2024.07.020.
PMID: 39191256Free PMC Article
Ludwig J,
Sawant OB,
Wood J,
Singamsetty S,
Pan X,
Bonilha VL,
Rao S,
Pshezhetsky AV
Exp Eye Res
2023 Apr;229:109433.
Epub 2023 Feb 27
doi: 10.1016/j.exer.2023.109433.
PMID: 36858249Free PMC Article
Dulla K,
Slijkerman R,
van Diepen HC,
Albert S,
Dona M,
Beumer W,
Turunen JJ,
Chan HL,
Schulkens IA,
Vorthoren L,
den Besten C,
Buil L,
Schmidt I,
Miao J,
Venselaar H,
Zang J,
Neuhauss SCF,
Peters T,
Broekman S,
Pennings R,
Kremer H,
Platenburg G,
Adamson P,
de Vrieze E,
van Wijk E
Mol Ther
2021 Aug 4;29(8):2441-2455.
Epub 2021 Apr 23
doi: 10.1016/j.ymthe.2021.04.024.
PMID: 33895329Free PMC Article
Holtan JP,
Teigen K,
Aukrust I,
Bragadóttir R,
Houge G
Ophthalmic Genet
2019 Apr;40(2):124-128.
Epub 2019 Apr 1
doi: 10.1080/13816810.2019.1586965.
PMID: 30932721