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
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
Daich Varela M,
Conti GM,
Malka S,
Vaclavik V,
Mahroo OA,
Webster AR,
Tran V,
Michaelides M
Ophthalmology
2023 Dec;130(12):1327-1335.
Epub 2023 Aug 5
doi: 10.1016/j.ophtha.2023.07.027.
PMID: 37544434Free PMC Article
Deutsch S,
Lommatzsch A,
Weinitz S,
Farmand G,
Kellner U
Graefes Arch Clin Exp Ophthalmol
2022 Jun;260(6):1923-1931.
Epub 2022 Jan 4
doi: 10.1007/s00417-021-05530-4.
PMID: 34982219Free PMC Article
Oluleye TS,
Babalola YO,
Majekodunmi OI,
Ijaduola MA
Niger J Clin Pract
2021 Mar;24(3):341-344.
doi: 10.4103/njcp.njcp_408_20.
PMID: 33723107
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
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
Daich Varela M,
Conti GM,
Malka S,
Vaclavik V,
Mahroo OA,
Webster AR,
Tran V,
Michaelides M
Ophthalmology
2023 Dec;130(12):1327-1335.
Epub 2023 Aug 5
doi: 10.1016/j.ophtha.2023.07.027.
PMID: 37544434Free PMC Article
Oh JK,
Ryu J,
Tsang SH
Methods Mol Biol
2023;2560:81-90.
doi: 10.1007/978-1-0716-2651-1_7.
PMID: 36481885
Deutsch S,
Lommatzsch A,
Weinitz S,
Farmand G,
Kellner U
Graefes Arch Clin Exp Ophthalmol
2022 Jun;260(6):1923-1931.
Epub 2022 Jan 4
doi: 10.1007/s00417-021-05530-4.
PMID: 34982219Free PMC Article
Therapy
Oshitari T
Int J Mol Sci
2024 Sep 29;25(19)
doi: 10.3390/ijms251910485.
PMID: 39408817Free PMC Article
Wada N,
Takagi S,
Yoshikawa A,
Itokawa T,
Maruyama T,
Hori Y
Semin Ophthalmol
2024 Aug;39(6):480-487.
Epub 2024 Jun 8
doi: 10.1080/08820538.2024.2363849.
PMID: 38851891
Kuehlewein L,
Zobor D,
Andreasson SO,
Ayuso C,
Banfi S,
Bocquet B,
Bernd AS,
Biskup S,
Boon CJF,
Downes SM,
Fischer MD,
Holz FG,
Kellner U,
Leroy BP,
Meunier I,
Nasser F,
Rosenberg T,
Rudolph G,
Stingl K,
Thiadens AAHJ,
Wilhelm B,
Wissinger B,
Zrenner E,
Kohl S,
Weisschuh N;
RD-CURE Consortium
JAMA Ophthalmol
2020 Dec 1;138(12):1241-1250.
doi: 10.1001/jamaophthalmol.2020.4206.
PMID: 33057649Free PMC Article
Mansour AM,
Sheheitli H,
Kucukerdonmez C,
Sisk RA,
Moura R,
Moschos MM,
Lima LH,
Al-Shaar L,
Arevalo JF,
Maia M,
Foster RE,
Kayikcioglu O,
Kozak I,
Kurup S,
Zegarra H,
Gallego-Pinazo R,
Hamam RN,
Bejjani RA,
Cinar E,
Erakgün ET,
Kimura A,
Teixeira A
Retina
2018 Feb;38(2):416-423.
doi: 10.1097/IAE.0000000000001542.
PMID: 28221257
Haws RM,
Joshi A,
Shah SA,
Alkandari O,
Turman MA
Pediatr Nephrol
2016 Nov;31(11):2153-61.
Epub 2016 Jun 1
doi: 10.1007/s00467-016-3415-4.
PMID: 27245600
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
Daich Varela M,
Conti GM,
Malka S,
Vaclavik V,
Mahroo OA,
Webster AR,
Tran V,
Michaelides M
Ophthalmology
2023 Dec;130(12):1327-1335.
Epub 2023 Aug 5
doi: 10.1016/j.ophtha.2023.07.027.
PMID: 37544434Free PMC Article
Lo JE,
Cheng CY,
Yang CH,
Yang CM,
Chen YC,
Huang YS,
Chen PL,
Chen TC
Transl Vis Sci Technol
2022 Jul 8;11(7):6.
doi: 10.1167/tvst.11.7.6.
PMID: 35816039Free PMC Article
Huang CH,
Yang CH,
Lai YJ,
Hsiao CK,
Hou YC,
Yang CM,
Chen TC
Retina
2022 Feb 1;42(2):388-395.
doi: 10.1097/IAE.0000000000003301.
PMID: 34510128
Liew G,
Strong S,
Bradley P,
Severn P,
Moore AT,
Webster AR,
Mitchell P,
Kifley A,
Michaelides M
Br J Ophthalmol
2019 Aug;103(8):1163-1166.
Epub 2018 Oct 5
doi: 10.1136/bjophthalmol-2018-311964.
PMID: 30291136
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
Daich Varela M,
Conti GM,
Malka S,
Vaclavik V,
Mahroo OA,
Webster AR,
Tran V,
Michaelides M
Ophthalmology
2023 Dec;130(12):1327-1335.
Epub 2023 Aug 5
doi: 10.1016/j.ophtha.2023.07.027.
PMID: 37544434Free PMC Article
Lo JE,
Cheng CY,
Yang CH,
Yang CM,
Chen YC,
Huang YS,
Chen PL,
Chen TC
Transl Vis Sci Technol
2022 Jul 8;11(7):6.
doi: 10.1167/tvst.11.7.6.
PMID: 35816039Free PMC Article
Heath Jeffery RC,
Mukhtar SA,
McAllister IL,
Morgan WH,
Mackey DA,
Chen FK
Ophthalmic Genet
2021 Aug;42(4):431-439.
Epub 2021 May 3
doi: 10.1080/13816810.2021.1913610.
PMID: 33939573Free PMC Article
Kuehlewein L,
Zobor D,
Andreasson SO,
Ayuso C,
Banfi S,
Bocquet B,
Bernd AS,
Biskup S,
Boon CJF,
Downes SM,
Fischer MD,
Holz FG,
Kellner U,
Leroy BP,
Meunier I,
Nasser F,
Rosenberg T,
Rudolph G,
Stingl K,
Thiadens AAHJ,
Wilhelm B,
Wissinger B,
Zrenner E,
Kohl S,
Weisschuh N;
RD-CURE Consortium
JAMA Ophthalmol
2020 Dec 1;138(12):1241-1250.
doi: 10.1001/jamaophthalmol.2020.4206.
PMID: 33057649Free PMC Article