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Macular dystrophy, retinal, 5(MCDR5)

MedGen UID:
1840630
•Concept ID:
C5829994
•
Disease or Syndrome
Synonyms: MACULAR DYSTROPHY, RETINAL, 5; MCDR5
 
OMIM®: 609502; 613660

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
A review of neovascular glaucoma. Etiopathogenesis and treatment.
Dumbrăveanu L, Cușnir V, Bobescu D
Rom J Ophthalmol 2021 Oct-Dec;65(4):315-329. doi: 10.22336/rjo.2021.66. PMID: 35087972Free PMC Article
Cystoid macular edema related to cataract surgery and topical prostaglandin analogs: Mechanism, diagnosis, and management.
Holló G, Aung T, Cantor LB, Aihara M
Surv Ophthalmol 2020 Sep-Oct;65(5):496-512. Epub 2020 Feb 22 doi: 10.1016/j.survophthal.2020.02.004. PMID: 32092363

Recent clinical studies

Etiology

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
Epidemiology of geographic atrophy and its precursor features of intermediate age-related macular degeneration.
Vujosevic S, Alovisi C, Chakravarthy U
Acta Ophthalmol 2023 Dec;101(8):839-856. doi: 10.1111/aos.15767. PMID: 37933608
Choroidal Hyper-Reflective Foci in Geographic Atrophy.
Borrelli E, Reibaldi M, Barresi C, Berni A, Introini U, Bandello F
Invest Ophthalmol Vis Sci 2023 Nov 1;64(14):5. doi: 10.1167/iovs.64.14.5. PMID: 37922157Free PMC Article
Characterization of Drusen and Hyperreflective Foci as Biomarkers for Disease Progression in Age-Related Macular Degeneration Using Artificial Intelligence in Optical Coherence Tomography.
Waldstein SM, Vogl WD, Bogunovic H, Sadeghipour A, Riedl S, Schmidt-Erfurth U
JAMA Ophthalmol 2020 Jul 1;138(7):740-747. doi: 10.1001/jamaophthalmol.2020.1376. PMID: 32379287Free PMC Article
Clinical classification of age-related macular degeneration.
Ferris FL 3rd, Wilkinson CP, Bird A, Chakravarthy U, Chew E, Csaky K, Sadda SR; Beckman Initiative for Macular Research Classification Committee
Ophthalmology 2013 Apr;120(4):844-51. Epub 2013 Jan 16 doi: 10.1016/j.ophtha.2012.10.036. PMID: 23332590Free PMC Article

Diagnosis

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
Choroidal Hyper-Reflective Foci in Geographic Atrophy.
Borrelli E, Reibaldi M, Barresi C, Berni A, Introini U, Bandello F
Invest Ophthalmol Vis Sci 2023 Nov 1;64(14):5. doi: 10.1167/iovs.64.14.5. PMID: 37922157Free PMC Article
Age-Related Macular or Retinal Degeneration?
Gałuszka M, Pojda-Wilczek D, Karska-Basta I
Medicina (Kaunas) 2023 May 11;59(5) doi: 10.3390/medicina59050920. PMID: 37241152Free PMC Article
Characterization of Drusen and Hyperreflective Foci as Biomarkers for Disease Progression in Age-Related Macular Degeneration Using Artificial Intelligence in Optical Coherence Tomography.
Waldstein SM, Vogl WD, Bogunovic H, Sadeghipour A, Riedl S, Schmidt-Erfurth U
JAMA Ophthalmol 2020 Jul 1;138(7):740-747. doi: 10.1001/jamaophthalmol.2020.1376. PMID: 32379287Free PMC Article
Clinical classification of age-related macular degeneration.
Ferris FL 3rd, Wilkinson CP, Bird A, Chakravarthy U, Chew E, Csaky K, Sadda SR; Beckman Initiative for Macular Research Classification Committee
Ophthalmology 2013 Apr;120(4):844-51. Epub 2013 Jan 16 doi: 10.1016/j.ophtha.2012.10.036. PMID: 23332590Free PMC Article

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
LIGHTSITE III: 13-Month Efficacy and Safety Evaluation of Multiwavelength Photobiomodulation in Nonexudative (Dry) Age-Related Macular Degeneration Using the Lumithera Valeda Light Delivery System.
Boyer D, Hu A, Warrow D, Xavier S, Gonzalez V, Lad E, Rosen RB, Do D, Schneiderman T, Ho A, Munk MR, Jaffe G, Tedford SE, Croissant CL, Walker M, Rückert R, Tedford CE
Retina 2024 Mar 1;44(3):487-497. doi: 10.1097/IAE.0000000000003980. PMID: 37972955Free PMC Article
Surgery, Tissue Plasminogen Activator, Antiangiogenic Agents, and Age-Related Macular Degeneration Study: A Randomized Controlled Trial for Submacular Hemorrhage Secondary to Age-Related Macular Degeneration.
Gabrielle PH, Delyfer MN, Glacet-Bernard A, Conart JB, Uzzan J, Kodjikian L, Arndt C, Tadayoni R, Soudry-Faure A, Creuzot Garcher CP
Ophthalmology 2023 Sep;130(9):947-957. Epub 2023 Apr 22 doi: 10.1016/j.ophtha.2023.04.014. PMID: 37088447
THE PATHOPHYSIOLOGY OF GEOGRAPHIC ATROPHY SECONDARY TO AGE-RELATED MACULAR DEGENERATION AND THE COMPLEMENT PATHWAY AS A THERAPEUTIC TARGET.
Boyer DS, Schmidt-Erfurth U, van Lookeren Campagne M, Henry EC, Brittain C
Retina 2017 May;37(5):819-835. doi: 10.1097/IAE.0000000000001392. PMID: 27902638Free PMC Article
Ranibizumab and bevacizumab for neovascular age-related macular degeneration.
CATT Research Group, Martin DF, Maguire MG, Ying GS, Grunwald JE, Fine SL, Jaffe GJ
N Engl J Med 2011 May 19;364(20):1897-908. Epub 2011 Apr 28 doi: 10.1056/NEJMoa1102673. PMID: 21526923Free PMC Article

Prognosis

INCIDENCE AND RISK FACTORS OF INTRAOCULAR INFLAMMATION AFTER BROLUCIZUMAB TREATMENT IN JAPAN: A Multicenter Age-Related Macular Degeneration Study.
Inoda S, Takahashi H, Maruyama-Inoue M, Ikeda S, Sekiryu T, Itagaki K, Matsumoto H, Mukai R, Nagai Y, Ohnaka M, Kusuhara S, Miki A, Okada AA, Nakayama M, Nishiguchi KM, Takeuchi J, Mori R, Tanaka K, Honda S, Kohno T, Koizumi H, Miyara Y, Inoue Y, Takana H, Iida T, Maruko I, Hayashi A, Ueda-Consolvo T, Yanagi Y
Retina 2024 Apr 1;44(4):714-722. doi: 10.1097/IAE.0000000000004009. PMID: 38016089
Characterization of Drusen and Hyperreflective Foci as Biomarkers for Disease Progression in Age-Related Macular Degeneration Using Artificial Intelligence in Optical Coherence Tomography.
Waldstein SM, Vogl WD, Bogunovic H, Sadeghipour A, Riedl S, Schmidt-Erfurth U
JAMA Ophthalmol 2020 Jul 1;138(7):740-747. doi: 10.1001/jamaophthalmol.2020.1376. PMID: 32379287Free PMC Article
Clinical classification of age-related macular degeneration.
Ferris FL 3rd, Wilkinson CP, Bird A, Chakravarthy U, Chew E, Csaky K, Sadda SR; Beckman Initiative for Macular Research Classification Committee
Ophthalmology 2013 Apr;120(4):844-51. Epub 2013 Jan 16 doi: 10.1016/j.ophtha.2012.10.036. PMID: 23332590Free PMC Article
Foveomacular dystrophy.
Lim JI, Enger C, Fine SL
Am J Ophthalmol 1994 Jan 15;117(1):1-6. doi: 10.1016/s0002-9394(14)73007-7. PMID: 8291575
Macular hole and retinal detachment.
Laatikainen L, Harju H
Acta Ophthalmol (Copenh) 1983 Jun;61(3):337-42. doi: 10.1111/j.1755-3768.1983.tb01431.x. PMID: 6624403

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
Choroidal Hyper-Reflective Foci in Geographic Atrophy.
Borrelli E, Reibaldi M, Barresi C, Berni A, Introini U, Bandello F
Invest Ophthalmol Vis Sci 2023 Nov 1;64(14):5. doi: 10.1167/iovs.64.14.5. PMID: 37922157Free PMC Article
Correlation Between Choriocapillaris Density and Retinal Sensitivity in Age-Related Macular Degeneration.
Di Perna L, Melillo P, Gesualdo C, Palmieri F, Testa F, Bifani M, Rossi S, Simonelli F
Transl Vis Sci Technol 2021 Jun 1;10(7):2. doi: 10.1167/tvst.10.7.2. PMID: 34061948Free PMC Article
Characterization of Drusen and Hyperreflective Foci as Biomarkers for Disease Progression in Age-Related Macular Degeneration Using Artificial Intelligence in Optical Coherence Tomography.
Waldstein SM, Vogl WD, Bogunovic H, Sadeghipour A, Riedl S, Schmidt-Erfurth U
JAMA Ophthalmol 2020 Jul 1;138(7):740-747. doi: 10.1001/jamaophthalmol.2020.1376. PMID: 32379287Free PMC Article
Clinical classification of age-related macular degeneration.
Ferris FL 3rd, Wilkinson CP, Bird A, Chakravarthy U, Chew E, Csaky K, Sadda SR; Beckman Initiative for Macular Research Classification Committee
Ophthalmology 2013 Apr;120(4):844-51. Epub 2013 Jan 16 doi: 10.1016/j.ophtha.2012.10.036. PMID: 23332590Free PMC Article

Recent systematic reviews

Prognostic factors for the development and progression of proliferative diabetic retinopathy in people with diabetic retinopathy.
Perais J, Agarwal R, Evans JR, Loveman E, Colquitt JL, Owens D, Hogg RE, Lawrenson JG, Takwoingi Y, Lois N
Cochrane Database Syst Rev 2023 Feb 22;2(2):CD013775. doi: 10.1002/14651858.CD013775.pub2. PMID: 36815723Free PMC Article
Comparative Efficacy of Brolucizumab in the Treatment of Neovascular Age-Related Macular Degeneration: A Systematic Literature Review and Network Meta-Analysis.
Finger RP, Dennis N, Freitas R, Quenéchdu A, Clemens A, Karcher H, Souied EH
Adv Ther 2022 Aug;39(8):3425-3448. Epub 2022 Jun 9 doi: 10.1007/s12325-022-02193-3. PMID: 35678996Free PMC Article
A Global Assessment of Eye Health and Quality of Life: A Systematic Review of Systematic Reviews.
Assi L, Chamseddine F, Ibrahim P, Sabbagh H, Rosman L, Congdon N, Evans J, Ramke J, Kuper H, Burton MJ, Ehrlich JR, Swenor BK
JAMA Ophthalmol 2021 May 1;139(5):526-541. doi: 10.1001/jamaophthalmol.2021.0146. PMID: 33576772Free PMC Article
The Complications of Myopia: A Review and Meta-Analysis.
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Global prevalence of age-related macular degeneration and disease burden projection for 2020 and 2040: a systematic review and meta-analysis.
Wong WL, Su X, Li X, Cheung CM, Klein R, Cheng CY, Wong TY
Lancet Glob Health 2014 Feb;2(2):e106-16. Epub 2014 Jan 3 doi: 10.1016/S2214-109X(13)70145-1. PMID: 25104651

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