Etiology
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
Rodilla C,
Martín-Merida I,
Blanco-Kelly F,
Trujillo-Tiebas MJ,
Avila-Fernandez A,
Riveiro-Alvarez R,
Del Pozo-Valero M,
Perea-Romero I,
Swafiri ST,
Zurita O,
Villaverde C,
López MÁ,
Romero R,
Iancu IF,
Núñez-Moreno G,
Jiménez-Rolando B,
Martin-Gutierrez MP,
Carreño E,
Minguez P,
García-Sandoval B,
Ayuso C,
Corton M
Am J Ophthalmol
2023 Oct;254:87-103.
Epub 2023 Jun 15
doi: 10.1016/j.ajo.2023.05.015.
PMID: 37327959
Chiu W,
Lin TY,
Chang YC,
Isahwan-Ahmad Mulyadi Lai H,
Lin SC,
Ma C,
Yarmishyn AA,
Lin SC,
Chang KJ,
Chou YB,
Hsu CC,
Lin TC,
Chen SJ,
Chien Y,
Yang YP,
Hwang DK
Int J Mol Sci
2021 Apr 26;22(9)
doi: 10.3390/ijms22094534.
PMID: 33926102Free PMC Article
Nassisi M,
Smirnov VM,
Solis Hernandez C,
Mohand-Saïd S,
Condroyer C,
Antonio A,
Kühlewein L,
Kempf M,
Kohl S,
Wissinger B,
Nasser F,
Ragi SD,
Wang NK,
Sparrow JR,
Greenstein VC,
Michalakis S,
Mahroo OA,
Ba-Abbad R,
Michaelides M,
Webster AR,
Degli Esposti S,
Saffren B,
Capasso J,
Levin A,
Hauswirth WW,
Dhaenens CM,
Defoort-Dhellemmes S,
Tsang SH,
Zrenner E,
Sahel JA,
Petersen-Jones SM,
Zeitz C,
Audo I
Hum Mutat
2021 Jun;42(6):641-666.
Epub 2021 May 16
doi: 10.1002/humu.24205.
PMID: 33847019Free PMC Article
Gliem M,
Müller PL,
Birtel J,
Herrmann P,
McGuinness MB,
Holz FG,
Charbel Issa P
Ophthalmol Retina
2020 Jul;4(7):737-749.
Epub 2020 Feb 27
doi: 10.1016/j.oret.2020.02.009.
PMID: 32646556
Diagnosis
Kim DJ,
Woo SJ,
Joo K
Ophthalmic Res
2024;67(1):9-22.
Epub 2023 Dec 13
doi: 10.1159/000535430.
PMID: 38091967
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
Rodilla C,
Martín-Merida I,
Blanco-Kelly F,
Trujillo-Tiebas MJ,
Avila-Fernandez A,
Riveiro-Alvarez R,
Del Pozo-Valero M,
Perea-Romero I,
Swafiri ST,
Zurita O,
Villaverde C,
López MÁ,
Romero R,
Iancu IF,
Núñez-Moreno G,
Jiménez-Rolando B,
Martin-Gutierrez MP,
Carreño E,
Minguez P,
García-Sandoval B,
Ayuso C,
Corton M
Am J Ophthalmol
2023 Oct;254:87-103.
Epub 2023 Jun 15
doi: 10.1016/j.ajo.2023.05.015.
PMID: 37327959
Zampaglione E,
Kinde B,
Place EM,
Navarro-Gomez D,
Maher M,
Jamshidi F,
Nassiri S,
Mazzone JA,
Finn C,
Schlegel D,
Comander J,
Pierce EA,
Bujakowska KM
Genet Med
2020 Jun;22(6):1079-1087.
Epub 2020 Feb 10
doi: 10.1038/s41436-020-0759-8.
PMID: 32037395Free PMC Article
Ahoor MH,
Amizadeh Y,
Sorkhabi R
Middle East Afr J Ophthalmol
2015 Oct-Dec;22(4):522-4.
doi: 10.4103/0974-9233.167819.
PMID: 26692730Free PMC Article
Therapy
Talib M,
van Schooneveld MJ,
Wijnholds J,
van Genderen MM,
Schalij-Delfos NE,
Talsma HE,
Florijn RJ,
Ten Brink JB,
Cremers FPM,
Thiadens AAHJ,
van den Born LI,
Hoyng CB,
Meester-Smoor MA,
Bergen AA,
Boon CJF
Acta Ophthalmol
2021 May;99(3):e402-e414.
Epub 2021 Feb 2
doi: 10.1111/aos.14597.
PMID: 33528094Free PMC Article
Lhériteau E,
Petit L,
Weber M,
Le Meur G,
Deschamps JY,
Libeau L,
Mendes-Madeira A,
Guihal C,
François A,
Guyon R,
Provost N,
Lemoine F,
Papal S,
El-Amraoui A,
Colle MA,
Moullier P,
Rolling F
Mol Ther
2014 Feb;22(2):265-277.
Epub 2013 Oct 4
doi: 10.1038/mt.2013.232.
PMID: 24091916Free PMC Article
Siqueira RC,
Messias A,
Voltarelli JC,
Scott IU,
Jorge R
Retina
2011 Jun;31(6):1207-14.
doi: 10.1097/IAE.0b013e3181f9c242.
PMID: 21293313
Prognosis
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
Chiu W,
Lin TY,
Chang YC,
Isahwan-Ahmad Mulyadi Lai H,
Lin SC,
Ma C,
Yarmishyn AA,
Lin SC,
Chang KJ,
Chou YB,
Hsu CC,
Lin TC,
Chen SJ,
Chien Y,
Yang YP,
Hwang DK
Int J Mol Sci
2021 Apr 26;22(9)
doi: 10.3390/ijms22094534.
PMID: 33926102Free PMC Article
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
Gliem M,
Müller PL,
Birtel J,
Herrmann P,
McGuinness MB,
Holz FG,
Charbel Issa P
Ophthalmol Retina
2020 Jul;4(7):737-749.
Epub 2020 Feb 27
doi: 10.1016/j.oret.2020.02.009.
PMID: 32646556
Zampaglione E,
Kinde B,
Place EM,
Navarro-Gomez D,
Maher M,
Jamshidi F,
Nassiri S,
Mazzone JA,
Finn C,
Schlegel D,
Comander J,
Pierce EA,
Bujakowska KM
Genet Med
2020 Jun;22(6):1079-1087.
Epub 2020 Feb 10
doi: 10.1038/s41436-020-0759-8.
PMID: 32037395Free PMC Article
Clinical prediction guides
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
Smirnov V,
Grunewald O,
Muller J,
Zeitz C,
Obermaier CD,
Devos A,
Pelletier V,
Bocquet B,
Andrieu C,
Bacquet JL,
Lebredonchel E,
Mohand-Saïd S,
Defoort-Dhellemmes S,
Sahel JA,
Dollfus H,
Zanlonghi X,
Audo I,
Meunier I,
Boulanger-Scemama E,
Dhaenens CM
Int J Mol Sci
2021 Jun 15;22(12)
doi: 10.3390/ijms22126410.
PMID: 34203883Free PMC Article
Chiu W,
Lin TY,
Chang YC,
Isahwan-Ahmad Mulyadi Lai H,
Lin SC,
Ma C,
Yarmishyn AA,
Lin SC,
Chang KJ,
Chou YB,
Hsu CC,
Lin TC,
Chen SJ,
Chien Y,
Yang YP,
Hwang DK
Int J Mol Sci
2021 Apr 26;22(9)
doi: 10.3390/ijms22094534.
PMID: 33926102Free PMC Article
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
Zampaglione E,
Kinde B,
Place EM,
Navarro-Gomez D,
Maher M,
Jamshidi F,
Nassiri S,
Mazzone JA,
Finn C,
Schlegel D,
Comander J,
Pierce EA,
Bujakowska KM
Genet Med
2020 Jun;22(6):1079-1087.
Epub 2020 Feb 10
doi: 10.1038/s41436-020-0759-8.
PMID: 32037395Free PMC Article