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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

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
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
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

Fleckenstein M, Schmitz-Valckenberg S, Chakravarthy U
JAMA 2024 Jan 9;331(2):147-157. doi: 10.1001/jama.2023.26074. PMID: 38193957
Vujosevic S, Alovisi C, Chakravarthy U
Acta Ophthalmol 2023 Dec;101(8):839-856. doi: 10.1111/aos.15767. PMID: 37933608
Gemenetzi M, Lotery AJ
Cell Mol Life Sci 2020 Mar;77(5):807-818. Epub 2020 Jan 2 doi: 10.1007/s00018-019-03421-w. PMID: 31897542Free PMC Article
Sivaprasad S, Bird A, Nitiahpapand R, Nicholson L, Hykin P, Chatziralli I; Moorfields UCL AMD Consortium
Surv Ophthalmol 2016 Sep-Oct;61(5):521-37. Epub 2016 Mar 17 doi: 10.1016/j.survophthal.2016.02.005. PMID: 26994868
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

Fleckenstein M, Schmitz-Valckenberg S, Chakravarthy U
JAMA 2024 Jan 9;331(2):147-157. doi: 10.1001/jama.2023.26074. PMID: 38193957
Zhang Q, Miller JML
Eye (Lond) 2022 May;36(5):1115-1118. Epub 2021 Aug 20 doi: 10.1038/s41433-021-01748-y. PMID: 34417566Free PMC Article
Sivaprasad S, Bird A, Nitiahpapand R, Nicholson L, Hykin P, Chatziralli I; Moorfields UCL AMD Consortium
Surv Ophthalmol 2016 Sep-Oct;61(5):521-37. Epub 2016 Mar 17 doi: 10.1016/j.survophthal.2016.02.005. PMID: 26994868
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
Schulze S, Hoerle S, Mennel S, Kroll P
Acta Ophthalmol 2008 Aug;86(5):470-81. Epub 2008 Jun 28 doi: 10.1111/j.1755-3768.2008.01210.x. PMID: 18537930

Therapy

Danzig CJ, Khanani AM, Loewenstein A
Immunotherapy 2024;16(12):779-790. Epub 2024 Jul 29 doi: 10.1080/1750743X.2024.2368342. PMID: 39073397Free PMC Article
Fleckenstein M, Schmitz-Valckenberg S, Chakravarthy U
JAMA 2024 Jan 9;331(2):147-157. doi: 10.1001/jama.2023.26074. PMID: 38193957
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
Stein CA, Castanotto D
Mol Ther 2017 May 3;25(5):1069-1075. Epub 2017 Mar 31 doi: 10.1016/j.ymthe.2017.03.023. PMID: 28366767Free PMC Article
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

Zhang Q, Miller JML
Eye (Lond) 2022 May;36(5):1115-1118. Epub 2021 Aug 20 doi: 10.1038/s41433-021-01748-y. PMID: 34417566Free PMC Article
Motevasseli T, Jhingan M, Bartsch DU, Singh SR, Alex V, Cavichini-Cordeiro M, Freeman WR
Ophthalmol Retina 2021 Jun;5(6):596-598. Epub 2020 Nov 18 doi: 10.1016/j.oret.2020.11.005. PMID: 33217619
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
Cohen SY, Maloberti B, Fajnkuchen F, Nghiem-Buffet S, Delahaye-Mazza C, Grenet T, Quentel G
Ophthalmologica 2014;231(2):80-5. Epub 2013 Dec 13 doi: 10.1159/000356401. PMID: 24356074
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

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
Fragiotta S, Parravano M, Sacconi R, Costanzo E, De Geronimo D, Prascina F, Capuano V, Souied EH, Han IC, Mullins R, Querques G
Sci Rep 2022 Sep 7;12(1):15198. doi: 10.1038/s41598-022-19193-6. PMID: 36071082Free PMC Article
Zhang Q, Miller JML
Eye (Lond) 2022 May;36(5):1115-1118. Epub 2021 Aug 20 doi: 10.1038/s41433-021-01748-y. PMID: 34417566Free PMC Article
Bax NM, Lambertus S, Cremers FPM, Klevering BJ, Hoyng CB
Graefes Arch Clin Exp Ophthalmol 2019 Jun;257(6):1147-1157. Epub 2019 Mar 22 doi: 10.1007/s00417-019-04280-8. PMID: 30903310
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

Trinh M, Cheung R, Duong A, Nivison-Smith L, Ly A
Ophthalmol Retina 2024 Jun;8(6):553-565. Epub 2023 Dec 27 doi: 10.1016/j.oret.2023.12.006. PMID: 38154619
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
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
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
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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