Etiology
Daich Varela M,
Duignan ES,
De Silva SR,
Ba-Abbad R,
Fujinami-Yokokawa Y,
Leo S,
Fujinami K,
Mahroo OA,
Robson AG,
Webster AR,
Michaelides M
Ophthalmol Retina
2023 Oct;7(10):918-931.
Epub 2023 Jun 17
doi: 10.1016/j.oret.2023.06.007.
PMID: 37331655Free PMC Article
Singh SR,
Vaidya H,
Borrelli E,
Chhablani J
Surv Ophthalmol
2023 Jul-Aug;68(4):655-668.
Epub 2023 Mar 18
doi: 10.1016/j.survophthal.2023.03.003.
PMID: 36934831
Olivier G,
Corton M,
Intartaglia D,
Verbakel SK,
Sergouniotis PI,
Le Meur G,
Dhaenens CM,
Naacke H,
Avila-Fernández A,
Hoyng CB,
Klevering J,
Bocquet B,
Roubertie A,
Sénéchal A,
Banfi S,
Muller A,
Hamel CL,
Black GC,
Conte I,
Roosing S,
Zanlonghi X,
Ayuso C,
Meunier I,
Manes G
J Med Genet
2021 Aug;58(8):570-578.
Epub 2020 Aug 17
doi: 10.1136/jmedgenet-2020-107150.
PMID: 32817297
Birtel J,
Eisenberger T,
Gliem M,
Müller PL,
Herrmann P,
Betz C,
Zahnleiter D,
Neuhaus C,
Lenzner S,
Holz FG,
Mangold E,
Bolz HJ,
Charbel Issa P
Sci Rep
2018 Mar 19;8(1):4824.
doi: 10.1038/s41598-018-22096-0.
PMID: 29555955Free PMC Article
Hamel CP
Orphanet J Rare Dis
2007 Feb 1;2:7.
doi: 10.1186/1750-1172-2-7.
PMID: 17270046Free PMC Article
Diagnosis
Daich Varela M,
Duignan ES,
De Silva SR,
Ba-Abbad R,
Fujinami-Yokokawa Y,
Leo S,
Fujinami K,
Mahroo OA,
Robson AG,
Webster AR,
Michaelides M
Ophthalmol Retina
2023 Oct;7(10):918-931.
Epub 2023 Jun 17
doi: 10.1016/j.oret.2023.06.007.
PMID: 37331655Free PMC Article
Singh SR,
Vaidya H,
Borrelli E,
Chhablani J
Surv Ophthalmol
2023 Jul-Aug;68(4):655-668.
Epub 2023 Mar 18
doi: 10.1016/j.survophthal.2023.03.003.
PMID: 36934831
Olivier G,
Corton M,
Intartaglia D,
Verbakel SK,
Sergouniotis PI,
Le Meur G,
Dhaenens CM,
Naacke H,
Avila-Fernández A,
Hoyng CB,
Klevering J,
Bocquet B,
Roubertie A,
Sénéchal A,
Banfi S,
Muller A,
Hamel CL,
Black GC,
Conte I,
Roosing S,
Zanlonghi X,
Ayuso C,
Meunier I,
Manes G
J Med Genet
2021 Aug;58(8):570-578.
Epub 2020 Aug 17
doi: 10.1136/jmedgenet-2020-107150.
PMID: 32817297
Birtel J,
Eisenberger T,
Gliem M,
Müller PL,
Herrmann P,
Betz C,
Zahnleiter D,
Neuhaus C,
Lenzner S,
Holz FG,
Mangold E,
Bolz HJ,
Charbel Issa P
Sci Rep
2018 Mar 19;8(1):4824.
doi: 10.1038/s41598-018-22096-0.
PMID: 29555955Free PMC Article
Hamel CP
Orphanet J Rare Dis
2007 Feb 1;2:7.
doi: 10.1186/1750-1172-2-7.
PMID: 17270046Free PMC Article
Therapy
Kim KT,
Chae JB,
Lee S,
Seo EJ,
Kim DY
BMC Ophthalmol
2021 Aug 10;21(1):294.
doi: 10.1186/s12886-021-02063-6.
PMID: 34376158Free PMC Article
Keenan TD,
Agrón E,
Domalpally A,
Clemons TE,
van Asten F,
Wong WT,
Danis RG,
Sadda S,
Rosenfeld PJ,
Klein ML,
Ratnapriya R,
Swaroop A,
Ferris FL 3rd,
Chew EY;
AREDS2 Research Group
Ophthalmology
2018 Dec;125(12):1913-1928.
Epub 2018 Jul 27
doi: 10.1016/j.ophtha.2018.05.028.
PMID: 30060980Free PMC Article
Prognosis
Singh SR,
Vaidya H,
Borrelli E,
Chhablani J
Surv Ophthalmol
2023 Jul-Aug;68(4):655-668.
Epub 2023 Mar 18
doi: 10.1016/j.survophthal.2023.03.003.
PMID: 36934831
Szeto SK,
Hui VWK,
Tang FY,
Yang D,
Sun ZH,
Mohamed S,
Chan CKM,
Lai TYY,
Cheung C
Br J Ophthalmol
2023 Apr;107(4):525-533.
Epub 2021 Nov 8
doi: 10.1136/bjophthalmol-2021-319587.
PMID: 34750100
Zhao Y,
Coussa RG,
DeBenedictis MJM,
Traboulsi EI
Ophthalmic Genet
2019 Oct;40(5):455-460.
Epub 2019 Sep 26
doi: 10.1080/13816810.2019.1666880.
PMID: 31556760
Birtel J,
Eisenberger T,
Gliem M,
Müller PL,
Herrmann P,
Betz C,
Zahnleiter D,
Neuhaus C,
Lenzner S,
Holz FG,
Mangold E,
Bolz HJ,
Charbel Issa P
Sci Rep
2018 Mar 19;8(1):4824.
doi: 10.1038/s41598-018-22096-0.
PMID: 29555955Free PMC Article
Hamel CP
Orphanet J Rare Dis
2007 Feb 1;2:7.
doi: 10.1186/1750-1172-2-7.
PMID: 17270046Free PMC Article
Clinical prediction guides
Singh SR,
Vaidya H,
Borrelli E,
Chhablani J
Surv Ophthalmol
2023 Jul-Aug;68(4):655-668.
Epub 2023 Mar 18
doi: 10.1016/j.survophthal.2023.03.003.
PMID: 36934831
Szeto SK,
Hui VWK,
Tang FY,
Yang D,
Sun ZH,
Mohamed S,
Chan CKM,
Lai TYY,
Cheung C
Br J Ophthalmol
2023 Apr;107(4):525-533.
Epub 2021 Nov 8
doi: 10.1136/bjophthalmol-2021-319587.
PMID: 34750100
Olivier G,
Corton M,
Intartaglia D,
Verbakel SK,
Sergouniotis PI,
Le Meur G,
Dhaenens CM,
Naacke H,
Avila-Fernández A,
Hoyng CB,
Klevering J,
Bocquet B,
Roubertie A,
Sénéchal A,
Banfi S,
Muller A,
Hamel CL,
Black GC,
Conte I,
Roosing S,
Zanlonghi X,
Ayuso C,
Meunier I,
Manes G
J Med Genet
2021 Aug;58(8):570-578.
Epub 2020 Aug 17
doi: 10.1136/jmedgenet-2020-107150.
PMID: 32817297
Cehajic-Kapetanovic J,
Birtel J,
McClements ME,
Shanks ME,
Clouston P,
Downes SM,
Charbel Issa P,
MacLaren RE
JAMA Netw Open
2019 Jun 5;2(6):e195752.
doi: 10.1001/jamanetworkopen.2019.5752.
PMID: 31199449Free PMC Article
Garcia-Cazorla À,
Mochel F,
Lamari F,
Saudubray JM
J Inherit Metab Dis
2015 Jan;38(1):19-40.
Epub 2014 Nov 21
doi: 10.1007/s10545-014-9776-6.
PMID: 25413954