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Genetic Macular Dystrophy

MedGen UID:
1636841
Concept ID:
C4682820
Disease or Syndrome

Definition

Macular dystrophy that is related to a change in a gene. [from NCI]

Professional guidelines

PubMed

Lagoumtzi SM, Chondrogianni N
Free Radic Biol Med 2021 Aug 1;171:169-190. Epub 2021 May 12 doi: 10.1016/j.freeradbiomed.2021.05.003. PMID: 33989756
Stahl A
Dtsch Arztebl Int 2020 Jul 20;117(29-30):513-520. doi: 10.3238/arztebl.2020.0513. PMID: 33087239Free PMC Article
Cooper J, Tkatchenko AV
Eye Contact Lens 2018 Jul;44(4):231-247. doi: 10.1097/ICL.0000000000000499. PMID: 29901472Free PMC Article

Recent clinical studies

Etiology

Armento A, Ueffing M, Clark SJ
Cell Mol Life Sci 2021 May;78(10):4487-4505. Epub 2021 Mar 9 doi: 10.1007/s00018-021-03796-9. PMID: 33751148Free PMC Article
Stahl A
Dtsch Arztebl Int 2020 Jul 20;117(29-30):513-520. doi: 10.3238/arztebl.2020.0513. PMID: 33087239Free PMC Article
Mitchell P, Liew G, Gopinath B, Wong TY
Lancet 2018 Sep 29;392(10153):1147-1159. doi: 10.1016/S0140-6736(18)31550-2. PMID: 30303083
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
Lim LS, Mitchell P, Seddon JM, Holz FG, Wong TY
Lancet 2012 May 5;379(9827):1728-38. doi: 10.1016/S0140-6736(12)60282-7. PMID: 22559899

Diagnosis

Fleckenstein M, Schmitz-Valckenberg S, Chakravarthy U
JAMA 2024 Jan 9;331(2):147-157. doi: 10.1001/jama.2023.26074. PMID: 38193957
Fleckenstein M, Keenan TDL, Guymer RH, Chakravarthy U, Schmitz-Valckenberg S, Klaver CC, Wong WT, Chew EY
Nat Rev Dis Primers 2021 May 6;7(1):31. doi: 10.1038/s41572-021-00265-2. PMID: 33958600
Stahl A
Dtsch Arztebl Int 2020 Jul 20;117(29-30):513-520. doi: 10.3238/arztebl.2020.0513. PMID: 33087239Free PMC Article
Mitchell P, Liew G, Gopinath B, Wong TY
Lancet 2018 Sep 29;392(10153):1147-1159. doi: 10.1016/S0140-6736(18)31550-2. PMID: 30303083
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

Therapy

Fleckenstein M, Schmitz-Valckenberg S, Chakravarthy U
JAMA 2024 Jan 9;331(2):147-157. doi: 10.1001/jama.2023.26074. PMID: 38193957
Desai D, Dugel PU
Eye (Lond) 2022 Feb;36(2):294-302. Epub 2022 Jan 9 doi: 10.1038/s41433-021-01765-x. PMID: 34999723Free PMC Article
Pugazhendhi A, Hubbell M, Jairam P, Ambati B
Int J Mol Sci 2021 Jan 25;22(3) doi: 10.3390/ijms22031170. PMID: 33504013Free PMC Article
Fleckenstein M, Mitchell P, Freund KB, Sadda S, Holz FG, Brittain C, Henry EC, Ferrara D
Ophthalmology 2018 Mar;125(3):369-390. Epub 2017 Oct 27 doi: 10.1016/j.ophtha.2017.08.038. PMID: 29110945
Al-Zamil WM, Yassin SA
Clin Interv Aging 2017;12:1313-1330. Epub 2017 Aug 22 doi: 10.2147/CIA.S143508. PMID: 28860733Free PMC Article

Prognosis

Armento A, Ueffing M, Clark SJ
Cell Mol Life Sci 2021 May;78(10):4487-4505. Epub 2021 Mar 9 doi: 10.1007/s00018-021-03796-9. PMID: 33751148Free PMC Article
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:139-151. doi: 10.1007/978-3-319-95046-4_27. PMID: 30578500
Mitchell P, Liew G, Gopinath B, Wong TY
Lancet 2018 Sep 29;392(10153):1147-1159. doi: 10.1016/S0140-6736(18)31550-2. PMID: 30303083
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
Fleckenstein M, Mitchell P, Freund KB, Sadda S, Holz FG, Brittain C, Henry EC, Ferrara D
Ophthalmology 2018 Mar;125(3):369-390. Epub 2017 Oct 27 doi: 10.1016/j.ophtha.2017.08.038. PMID: 29110945

Clinical prediction guides

Fleckenstein M, Schmitz-Valckenberg S, Chakravarthy U
JAMA 2024 Jan 9;331(2):147-157. doi: 10.1001/jama.2023.26074. PMID: 38193957
Keenan TDL, Cukras CA, Chew EY
Adv Exp Med Biol 2021;1256:1-31. doi: 10.1007/978-3-030-66014-7_1. PMID: 33847996
Armento A, Ueffing M, Clark SJ
Cell Mol Life Sci 2021 May;78(10):4487-4505. Epub 2021 Mar 9 doi: 10.1007/s00018-021-03796-9. PMID: 33751148Free PMC Article
Kaarniranta K, Uusitalo H, Blasiak J, Felszeghy S, Kannan R, Kauppinen A, Salminen A, Sinha D, Ferrington D
Prog Retin Eye Res 2020 Nov;79:100858. Epub 2020 Apr 13 doi: 10.1016/j.preteyeres.2020.100858. PMID: 32298788Free PMC Article
Fleckenstein M, Mitchell P, Freund KB, Sadda S, Holz FG, Brittain C, Henry EC, Ferrara D
Ophthalmology 2018 Mar;125(3):369-390. Epub 2017 Oct 27 doi: 10.1016/j.ophtha.2017.08.038. PMID: 29110945

Recent systematic reviews

Tzoumas N, Riding G, Williams MA, Steel DH
Cochrane Database Syst Rev 2023 Jun 14;6(6):CD009300. doi: 10.1002/14651858.CD009300.pub3. PMID: 37314061Free PMC Article
Larsson SC, Burgess S
EBioMedicine 2022 Aug;82:104154. Epub 2022 Jul 8 doi: 10.1016/j.ebiom.2022.104154. PMID: 35816897Free PMC Article
Vagge A, Ferro Desideri L, Del Noce C, Di Mola I, Sindaco D, Traverso CE
Semin Ophthalmol 2021 Oct 3;36(7):541-548. Epub 2021 Mar 18 doi: 10.1080/08820538.2021.1900283. PMID: 33734926
Juźwik CA, S Drake S, Zhang Y, Paradis-Isler N, Sylvester A, Amar-Zifkin A, Douglas C, Morquette B, Moore CS, Fournier AE
Prog Neurobiol 2019 Nov;182:101664. Epub 2019 Jul 26 doi: 10.1016/j.pneurobio.2019.101664. PMID: 31356849
Chen H, Liu K, Chen LJ, Hou P, Chen W, Pang CP
Mol Vis 2012;18:816-29. Epub 2012 Apr 4 PMID: 22509112Free PMC Article

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