Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

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]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVGenetic Macular Dystrophy

Abnormality of the eye
- Abnormal eye morphology
  - Abnormal posterior eye segment morphology
    - Abnormal fundus morphology
      - Abnormal retinal morphology
        Retinal dystrophy
        Genetic Macular Dystrophy
        North Carolina macular dystrophy
        Vitelliform macular dystrophy
        Adult-onset foveomacular vitelliform dystrophy
        Vitelliform macular dystrophy 1
        Vitelliform macular dystrophy 3
        Vitelliform macular dystrophy 4
        Vitelliform macular dystrophy 5

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: 35120629 Free 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: 33087239 Free 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: 29901472 Free PMC Article

See all (348)

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: 33751148 Free 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: 33087239 Free 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

See all (2917)

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: 37940365 Free PMC Article

Age-related macular degeneration.

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

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: 33087239 Free 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

See all (2143)

Therapy

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: 33504013 Free PMC Article

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: 31704701 Free 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

See all (1192)

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: 33751148 Free 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: 33504013 Free 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

See all (1128)

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

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: 33751148 Free 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 developments in age-related macular degeneration: a review.

Al-Zamil WM, Yassin SA
Clin Interv Aging 2017;12:1313-1330. Epub 2017 Aug 22 doi: 10.2147/CIA.S143508. PMID: 28860733 Free PMC Article

Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions.

Zaneveld J, Siddiqui S, Li H, Wang X, Wang H, Wang K, Li H, Ren H, Lopez I, Dorfman A, Khan A, Wang F, Salvo J, Gelowani V, Li Y, Sui R, Koenekoop R, Chen R
Genet Med 2015 Apr;17(4):262-70. Epub 2014 Dec 4 doi: 10.1038/gim.2014.174. PMID: 25474345 Free PMC Article

See all (1876)

Recent systematic reviews

Complement inhibitors for age-related macular degeneration.

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: 37314061 Free PMC Article

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: 35816897 Free 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: 34561430 Free 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

See all (60)

MedGen

National Center for Biotechnology Information

Send to:

Genetic Macular Dystrophy

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Practice guidelines

Related information

Recent activity