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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

Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.
Cornelis SS, Runhart EH, Bauwens M, Corradi Z, De Baere E, Roosing S, Haer-Wigman L, Dhaenens CM, Vulto-van Silfhout AT, Cremers FPM
Am J Hum Genet 2022 Mar 3;109(3):498-507. Epub 2022 Feb 3 doi: 10.1016/j.ajhg.2022.01.008. PMID: 35120629Free PMC Article
The Diagnosis and Treatment of Age-Related Macular Degeneration.
Stahl A
Dtsch Arztebl Int 2020 Jul 20;117(29-30):513-520. doi: 10.3238/arztebl.2020.0513. PMID: 33087239Free PMC Article
A Review of Current Concepts of the Etiology and Treatment of Myopia.
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

The complement system in age-related macular degeneration.
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
The Diagnosis and Treatment of Age-Related Macular Degeneration.
Stahl A
Dtsch Arztebl Int 2020 Jul 20;117(29-30):513-520. doi: 10.3238/arztebl.2020.0513. PMID: 33087239Free PMC Article
Age-related macular degeneration.
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
Mechanisms of age-related macular degeneration and therapeutic opportunities.
van Lookeren Campagne M, LeCouter J, Yaspan BL, Ye W
J Pathol 2014 Jan;232(2):151-64. doi: 10.1002/path.4266. PMID: 24105633
Age-related macular degeneration.
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

Stargardt macular dystrophy and therapeutic approaches.
Fujinami K, Waheed N, Laich Y, Yang P, Fujinami-Yokokawa Y, Higgins JJ, Lu JT, Curtiss D, Clary C, Michaelides M
Br J Ophthalmol 2024 Mar 20;108(4):495-505. doi: 10.1136/bjo-2022-323071. PMID: 37940365Free PMC Article
The Diagnosis and Treatment of Age-Related Macular Degeneration.
Stahl A
Dtsch Arztebl Int 2020 Jul 20;117(29-30):513-520. doi: 10.3238/arztebl.2020.0513. PMID: 33087239Free PMC Article
Age-related macular degeneration.
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
Age-related macular degeneration.
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
Best's macular dystrophy.
Youssri AI, Miller JW
Int Ophthalmol Clin 2001 Fall;41(4):165-71. doi: 10.1097/00004397-200110000-00015. PMID: 11698745

Therapy

Age-Related Macular Degeneration: A Review.
Fleckenstein M, Schmitz-Valckenberg S, Chakravarthy U
JAMA 2024 Jan 9;331(2):147-157. doi: 10.1001/jama.2023.26074. PMID: 38193957
Neovascular Macular Degeneration: A Review of Etiology, Risk Factors, and Recent Advances in Research and Therapy.
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
Age-related macular degeneration therapy: a review.
Ammar MJ, Hsu J, Chiang A, Ho AC, Regillo CD
Curr Opin Ophthalmol 2020 May;31(3):215-221. doi: 10.1097/ICU.0000000000000657. PMID: 32205470
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.
Rahman N, Georgiou M, Khan KN, Michaelides M
Br J Ophthalmol 2020 Apr;104(4):451-460. Epub 2019 Nov 8 doi: 10.1136/bjophthalmol-2019-315086. PMID: 31704701Free PMC Article
Age-related macular degeneration (AMD): pathogenesis and therapy.
Nowak JZ
Pharmacol Rep 2006 May-Jun;58(3):353-63. PMID: 16845209

Prognosis

The complement system in age-related macular degeneration.
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
Neovascular Macular Degeneration: A Review of Etiology, Risk Factors, and Recent Advances in Research and Therapy.
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
Stargardt Disease.
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:139-151. doi: 10.1007/978-3-319-95046-4_27. PMID: 30578500
Age-related macular degeneration.
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
Best's vitelliform dystrophy.
Blodi CF, Stone EM
Ophthalmic Paediatr Genet 1990 Mar;11(1):49-59. PMID: 2190134

Clinical prediction guides

Age-Related Macular Degeneration: A Review.
Fleckenstein M, Schmitz-Valckenberg S, Chakravarthy U
JAMA 2024 Jan 9;331(2):147-157. doi: 10.1001/jama.2023.26074. PMID: 38193957
Age-Related Macular Degeneration: Epidemiology and Clinical Aspects.
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
The complement system in age-related macular degeneration.
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
Risk factors for progression of age-related macular degeneration.
Heesterbeek TJ, Lorés-Motta L, Hoyng CB, Lechanteur YTE, den Hollander AI
Ophthalmic Physiol Opt 2020 Mar;40(2):140-170. Epub 2020 Feb 25 doi: 10.1111/opo.12675. PMID: 32100327Free PMC Article
The Progression of Geographic Atrophy Secondary to Age-Related Macular Degeneration.
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

Appraising the causal role of smoking in multiple diseases: A systematic review and meta-analysis of Mendelian randomization studies.
Larsson SC, Burgess S
EBioMedicine 2022 Aug;82:104154. Epub 2022 Jul 8 doi: 10.1016/j.ebiom.2022.104154. PMID: 35816897Free PMC Article
Cholesteryl ester transfer protein (CETP) as a drug target for cardiovascular disease.
Schmidt AF, Hunt NB, Gordillo-Marañón M, Charoen P, Drenos F, Kivimaki M, Lawlor DA, Giambartolomei C, Papacosta O, Chaturvedi N, Bis JC, O'Donnell CJ, Wannamethee G, Wong A, Price JF, Hughes AD, Gaunt TR, Franceschini N, Mook-Kanamori DO, Zwierzyna M, Sofat R, Hingorani AD, Finan C
Nat Commun 2021 Sep 24;12(1):5640. doi: 10.1038/s41467-021-25703-3. PMID: 34561430Free PMC Article
Blue light filtering ophthalmic lenses: A systematic review.
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
microRNA dysregulation in neurodegenerative diseases: A systematic review.
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
Association of the polymorphism Y402H in the CFH gene with response to anti-VEGF treatment in age-related macular degeneration: a systematic review and meta-analysis.
Hong N, Shen Y, Yu CY, Wang SQ, Tong JP
Acta Ophthalmol 2016 Jun;94(4):334-45. Epub 2016 May 6 doi: 10.1111/aos.13049. PMID: 27151934

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