Etiology
Birtel J,
Caswell R,
De Silva SR,
Herrmann P,
Rehman S,
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Mahroo OA,
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Charbel Issa P
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Heath Jeffery RC,
Lo J,
Thompson JA,
Lamey TM,
McLaren TL,
DeRoach JN,
Kabilio MS,
Chen FK
Ophthalmic Genet
2023 Aug;44(4):352-360.
Epub 2023 Apr 4
doi: 10.1080/13816810.2023.2196338.
PMID: 37013444
Bhardwaj A,
Yadav A,
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Indian J Ophthalmol
2022 Jul;70(7):2355-2385.
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PMID: 35791117Free PMC Article
Martin-Merida I,
Avila-Fernandez A,
Del Pozo-Valero M,
Blanco-Kelly F,
Zurita O,
Perez-Carro R,
Aguilera-Garcia D,
Riveiro-Alvarez R,
Arteche A,
Trujillo-Tiebas MJ,
Tahsin-Swafiri S,
Rodriguez-Pinilla E,
Lorda-Sanchez I,
Garcia-Sandoval B,
Corton M,
Ayuso C
Ophthalmology
2019 Aug;126(8):1181-1188.
Epub 2019 Mar 20
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PMID: 30902645
Afzelius BA
J Pathol
2004 Nov;204(4):470-7.
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PMID: 15495266Free PMC Article
Diagnosis
Birtel J,
Caswell R,
De Silva SR,
Herrmann P,
Rehman S,
Lotery AJ,
Mahroo OA,
Michaelides M,
Webster AR,
MacLaren RE,
Charbel Issa P
Am J Ophthalmol
2024 Feb;258:32-42.
Epub 2023 Oct 6
doi: 10.1016/j.ajo.2023.10.002.
PMID: 37806544
Stephenson KAJ,
Whelan L,
Zhu J,
Dockery A,
Wynne NC,
Cairns RM,
Kirk C,
Turner J,
Duignan ES,
O'Byrne JJ,
Silvestri G,
Kenna PF,
Farrar GJ,
Keegan DJ
Invest Ophthalmol Vis Sci
2023 Jul 3;64(10):23.
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PMID: 37466950Free PMC Article
Heath Jeffery RC,
Lo J,
Thompson JA,
Lamey TM,
McLaren TL,
DeRoach JN,
Kabilio MS,
Chen FK
Ophthalmic Genet
2023 Aug;44(4):352-360.
Epub 2023 Apr 4
doi: 10.1080/13816810.2023.2196338.
PMID: 37013444
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
Martin-Merida I,
Avila-Fernandez A,
Del Pozo-Valero M,
Blanco-Kelly F,
Zurita O,
Perez-Carro R,
Aguilera-Garcia D,
Riveiro-Alvarez R,
Arteche A,
Trujillo-Tiebas MJ,
Tahsin-Swafiri S,
Rodriguez-Pinilla E,
Lorda-Sanchez I,
Garcia-Sandoval B,
Corton M,
Ayuso C
Ophthalmology
2019 Aug;126(8):1181-1188.
Epub 2019 Mar 20
doi: 10.1016/j.ophtha.2019.03.018.
PMID: 30902645
Therapy
Liu K,
Wang L
Bosn J Basic Med Sci
2019 Nov 8;19(4):321-327.
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Klassen H
Expert Opin Biol Ther
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Luo YH,
da Cruz L
Prog Retin Eye Res
2016 Jan;50:89-107.
Epub 2015 Sep 25
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PMID: 26404104
Weiland JD,
Cho AK,
Humayun MS
Ophthalmology
2011 Nov;118(11):2227-37.
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PMID: 22047893
Afzelius BA
J Pathol
2004 Nov;204(4):470-7.
doi: 10.1002/path.1652.
PMID: 15495266Free PMC Article
Prognosis
Heath Jeffery RC,
Lo J,
Thompson JA,
Lamey TM,
McLaren TL,
DeRoach JN,
Kabilio MS,
Chen FK
Ophthalmic Genet
2023 Aug;44(4):352-360.
Epub 2023 Apr 4
doi: 10.1080/13816810.2023.2196338.
PMID: 37013444
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
Lee EK,
Lee SY,
Ma DJ,
Yoon CK,
Park UC,
Yu HG
Retina
2022 Apr 1;42(4):807-815.
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PMID: 34907125
Ma DJ,
Lee HS,
Kim K,
Choi S,
Jang I,
Cho SH,
Yoon CK,
Lee EK,
Yu HG
BMC Med Genomics
2021 Mar 10;14(1):74.
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Sathasivam S
Orphanet J Rare Dis
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Clinical prediction guides
Birtel J,
Caswell R,
De Silva SR,
Herrmann P,
Rehman S,
Lotery AJ,
Mahroo OA,
Michaelides M,
Webster AR,
MacLaren RE,
Charbel Issa P
Am J Ophthalmol
2024 Feb;258:32-42.
Epub 2023 Oct 6
doi: 10.1016/j.ajo.2023.10.002.
PMID: 37806544
Lee KE,
Pulido JS,
da Palma MM,
Procopio R,
Hufnagel RB,
Reynolds M
Genes (Basel)
2023 Aug 8;14(8)
doi: 10.3390/genes14081601.
PMID: 37628652Free PMC Article
Heath Jeffery RC,
Lo J,
Thompson JA,
Lamey TM,
McLaren TL,
DeRoach JN,
Kabilio MS,
Chen FK
Ophthalmic Genet
2023 Aug;44(4):352-360.
Epub 2023 Apr 4
doi: 10.1080/13816810.2023.2196338.
PMID: 37013444
Duncan JL,
Liang W,
Maguire MG,
Porco TC,
Wong J,
Audo I,
Cava JA,
Grieve K,
Kalitzeos A,
Kreis J,
Michaelides M,
Norberg N,
Paques M,
Carroll J;
Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol
2023 Aug;252:77-93.
Epub 2023 Mar 21
doi: 10.1016/j.ajo.2023.03.006.
PMID: 36948373
Ma DJ,
Lee HS,
Kim K,
Choi S,
Jang I,
Cho SH,
Yoon CK,
Lee EK,
Yu HG
BMC Med Genomics
2021 Mar 10;14(1):74.
doi: 10.1186/s12920-021-00874-6.
PMID: 33691693Free PMC Article