Etiology
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.
doi: 10.1167/iovs.64.10.23.
PMID: 37466950Free PMC Article
Chatterjee S,
Agrawal D,
Agrawal D,
Parchand SM,
Sahu A
Indian J Ophthalmol
2021 Jul;69(7):1753-1757.
doi: 10.4103/ijo.IJO_2916_20.
PMID: 34146021Free PMC Article
Gao FJ,
Li JK,
Chen H,
Hu FY,
Zhang SH,
Qi YH,
Xu P,
Wang DD,
Wang LS,
Chang Q,
Zhang YJ,
Liu W,
Li W,
Wang M,
Chen F,
Xu GZ,
Wu JH
Ophthalmology
2019 Nov;126(11):1549-1556.
Epub 2019 May 1
doi: 10.1016/j.ophtha.2019.04.038.
PMID: 31054281
Mrejen S,
Audo I,
Bonnel S,
Sahel JA
Dev Ophthalmol
2017;58:191-201.
Epub 2017 Mar 28
doi: 10.1159/000455281.
PMID: 28351048
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
Gao FJ,
Li JK,
Chen H,
Hu FY,
Zhang SH,
Qi YH,
Xu P,
Wang DD,
Wang LS,
Chang Q,
Zhang YJ,
Liu W,
Li W,
Wang M,
Chen F,
Xu GZ,
Wu JH
Ophthalmology
2019 Nov;126(11):1549-1556.
Epub 2019 May 1
doi: 10.1016/j.ophtha.2019.04.038.
PMID: 31054281
Huang H,
Chen Y,
Chen H,
Ma Y,
Chiang PW,
Zhong J,
Liu X,
Asan,
Wu J,
Su Y,
Li X,
Deng J,
Huang Y,
Zhang X,
Li Y,
Fan N,
Wang Y,
Tang L,
Shen J,
Chen M,
Zhang X,
Te D,
Banerjee S,
Liu H,
Qi M,
Yi X
PLoS One
2018;13(4):e0185237.
Epub 2018 Apr 11
doi: 10.1371/journal.pone.0185237.
PMID: 29641573Free PMC Article
Mrejen S,
Audo I,
Bonnel S,
Sahel JA
Dev Ophthalmol
2017;58:191-201.
Epub 2017 Mar 28
doi: 10.1159/000455281.
PMID: 28351048
Bonnet C,
Riahi Z,
Chantot-Bastaraud S,
Smagghe L,
Letexier M,
Marcaillou C,
Lefèvre GM,
Hardelin JP,
El-Amraoui A,
Singh-Estivalet A,
Mohand-Saïd S,
Kohl S,
Kurtenbach A,
Sliesoraityte I,
Zobor D,
Gherbi S,
Testa F,
Simonelli F,
Banfi S,
Fakin A,
Glavač D,
Jarc-Vidmar M,
Zupan A,
Battelino S,
Martorell Sampol L,
Claveria MA,
Catala Mora J,
Dad S,
Møller LB,
Rodriguez Jorge J,
Hawlina M,
Auricchio A,
Sahel JA,
Marlin S,
Zrenner E,
Audo I,
Petit C
Eur J Hum Genet
2016 Dec;24(12):1730-1738.
Epub 2016 Jul 27
doi: 10.1038/ejhg.2016.99.
PMID: 27460420Free PMC Article
Therapy
Zeki Fikret C,
Ucgun NI,
Karaca EE,
Evren Kemer O
Photodiagnosis Photodyn Ther
2023 Jun;42:103554.
Epub 2023 Apr 6
doi: 10.1016/j.pdpdt.2023.103554.
PMID: 37030435
Alcalde I,
Sánchez-Fernández C,
Martín C,
De Pablo N,
Jemni-Damer N,
Guinea GV,
Merayo-Lloves J,
Del Olmo-Aguado S
Medicina (Kaunas)
2022 Jan 10;58(1)
doi: 10.3390/medicina58010102.
PMID: 35056410Free PMC Article
Peng Y,
Tang L,
Zhou Y
Ophthalmic Res
2017;58(4):217-226.
Epub 2017 Sep 1
doi: 10.1159/000479157.
PMID: 28858866
Salvatore S,
Fishman GA,
Genead MA
Surv Ophthalmol
2013 Nov-Dec;58(6):560-84.
doi: 10.1016/j.survophthal.2012.11.006.
PMID: 24160730
Verlinsky Y,
Kuliev A
Biochem Mol Med
1996 Jun;58(1):13-7.
doi: 10.1006/bmme.1996.0026.
PMID: 8809340
Prognosis
Krauss E,
Macher J,
Capasso J,
Bernhardt B,
Ali-KhanCatts Z,
Levin A,
Brandt R
Ophthalmic Genet
2022 Oct;43(5):633-640.
Epub 2022 Jul 7
doi: 10.1080/13816810.2022.2096243.
PMID: 35796432
Chatterjee S,
Agrawal D,
Agrawal D,
Parchand SM,
Sahu A
Indian J Ophthalmol
2021 Jul;69(7):1753-1757.
doi: 10.4103/ijo.IJO_2916_20.
PMID: 34146021Free 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
Fragiotta S,
Rossi T,
Carnevale C,
Cutini A,
Tricarico S,
Casillo L,
Scuderi G,
Vingolo EM
Graefes Arch Clin Exp Ophthalmol
2019 Oct;257(10):2137-2146.
Epub 2019 Jul 19
doi: 10.1007/s00417-019-04418-8.
PMID: 31324966
Bonnet C,
Riahi Z,
Chantot-Bastaraud S,
Smagghe L,
Letexier M,
Marcaillou C,
Lefèvre GM,
Hardelin JP,
El-Amraoui A,
Singh-Estivalet A,
Mohand-Saïd S,
Kohl S,
Kurtenbach A,
Sliesoraityte I,
Zobor D,
Gherbi S,
Testa F,
Simonelli F,
Banfi S,
Fakin A,
Glavač D,
Jarc-Vidmar M,
Zupan A,
Battelino S,
Martorell Sampol L,
Claveria MA,
Catala Mora J,
Dad S,
Møller LB,
Rodriguez Jorge J,
Hawlina M,
Auricchio A,
Sahel JA,
Marlin S,
Zrenner E,
Audo I,
Petit C
Eur J Hum Genet
2016 Dec;24(12):1730-1738.
Epub 2016 Jul 27
doi: 10.1038/ejhg.2016.99.
PMID: 27460420Free PMC Article
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
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
Chatterjee S,
Agrawal D,
Agrawal D,
Parchand SM,
Sahu A
Indian J Ophthalmol
2021 Jul;69(7):1753-1757.
doi: 10.4103/ijo.IJO_2916_20.
PMID: 34146021Free 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
Bonnet C,
Riahi Z,
Chantot-Bastaraud S,
Smagghe L,
Letexier M,
Marcaillou C,
Lefèvre GM,
Hardelin JP,
El-Amraoui A,
Singh-Estivalet A,
Mohand-Saïd S,
Kohl S,
Kurtenbach A,
Sliesoraityte I,
Zobor D,
Gherbi S,
Testa F,
Simonelli F,
Banfi S,
Fakin A,
Glavač D,
Jarc-Vidmar M,
Zupan A,
Battelino S,
Martorell Sampol L,
Claveria MA,
Catala Mora J,
Dad S,
Møller LB,
Rodriguez Jorge J,
Hawlina M,
Auricchio A,
Sahel JA,
Marlin S,
Zrenner E,
Audo I,
Petit C
Eur J Hum Genet
2016 Dec;24(12):1730-1738.
Epub 2016 Jul 27
doi: 10.1038/ejhg.2016.99.
PMID: 27460420Free PMC Article