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Macular dystrophy, retinal, 4(MCDR4)

MedGen UID:
1823960
Concept ID:
C5774187
Disease or Syndrome
Synonym: MCDR4
 
Gene (location): CLEC3B (3p21.31)
 
Monarch Initiative: MONDO:0859568
OMIM®: 619977

Definition

Retinal macular dystrophy-4 (MCDR4) is characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization. Patients also exhibit extensive retinal dysfunction with impaired rod function (Zhou et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of retinal macular dystrophy, see MCDR1 (136550). [from OMIM]

Clinical features

From HPO
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Choroidal neovascularization
MedGen UID:
154726
Concept ID:
C0600518
Pathologic Function
Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.
Reduced OCT-measured foveal thickness
MedGen UID:
892629
Concept ID:
C4073089
Finding

Professional guidelines

PubMed

Munk MR, Somfai GM, de Smet MD, Donati G, Menke MN, Garweg JG, Ceklic L
Int J Mol Sci 2022 Jul 8;23(14) doi: 10.3390/ijms23147585. PMID: 35886930Free PMC Article
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
Schmidt-Erfurth U, Garcia-Arumi J, Bandello F, Berg K, Chakravarthy U, Gerendas BS, Jonas J, Larsen M, Tadayoni R, Loewenstein A
Ophthalmologica 2017;237(4):185-222. Epub 2017 Apr 20 doi: 10.1159/000458539. PMID: 28423385

Recent clinical studies

Etiology

Lima-Fontes M, Meira L, Barata P, Falcão M, Carneiro Â
Surv Ophthalmol 2022 Jul-Aug;67(4):883-891. Epub 2021 Nov 26 doi: 10.1016/j.survophthal.2021.11.009. PMID: 34843745
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
Sadda SR, Guymer R, Holz FG, Schmitz-Valckenberg S, Curcio CA, Bird AC, Blodi BA, Bottoni F, Chakravarthy U, Chew EY, Csaky K, Danis RP, Fleckenstein M, Freund KB, Grunwald J, Hoyng CB, Jaffe GJ, Liakopoulos S, Monés JM, Pauleikhoff D, Rosenfeld PJ, Sarraf D, Spaide RF, Tadayoni R, Tufail A, Wolf S, Staurenghi G
Ophthalmology 2018 Apr;125(4):537-548. Epub 2017 Nov 2 doi: 10.1016/j.ophtha.2017.09.028. PMID: 29103793Free PMC Article
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
Sparrow JR, Ueda K, Zhou J
Mol Aspects Med 2012 Aug;33(4):436-45. Epub 2012 Apr 5 doi: 10.1016/j.mam.2012.03.007. PMID: 22504022Free PMC Article

Diagnosis

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
Kourti P, Gonzalez-Martin J, Yeo DCM
Ophthalmol Retina 2020 Sep;4(9):898. doi: 10.1016/j.oret.2020.04.008. PMID: 32896362
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
Sadda SR, Guymer R, Holz FG, Schmitz-Valckenberg S, Curcio CA, Bird AC, Blodi BA, Bottoni F, Chakravarthy U, Chew EY, Csaky K, Danis RP, Fleckenstein M, Freund KB, Grunwald J, Hoyng CB, Jaffe GJ, Liakopoulos S, Monés JM, Pauleikhoff D, Rosenfeld PJ, Sarraf D, Spaide RF, Tadayoni R, Tufail A, Wolf S, Staurenghi G
Ophthalmology 2018 Apr;125(4):537-548. Epub 2017 Nov 2 doi: 10.1016/j.ophtha.2017.09.028. PMID: 29103793Free PMC Article
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

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
Patel SS, Lally DR, Hsu J, Wykoff CC, Eichenbaum D, Heier JS, Jaffe GJ, Westby K, Desai D, Zhu L, Khanani AM
Eye (Lond) 2023 Dec;37(17):3551-3557. Epub 2023 Mar 24 doi: 10.1038/s41433-023-02497-w. PMID: 36964259Free PMC Article
Jaffe GJ, Westby K, Csaky KG, Monés J, Pearlman JA, Patel SS, Joondeph BC, Randolph J, Masonson H, Rezaei KA
Ophthalmology 2021 Apr;128(4):576-586. Epub 2020 Sep 1 doi: 10.1016/j.ophtha.2020.08.027. PMID: 32882310
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
Ciardella AP, Donsoff IM, Guyer DR, Adamis A, Yannuzzi LA
Ophthalmol Clin North Am 2002 Dec;15(4):453-8. doi: 10.1016/s0896-1549(02)00042-1. PMID: 12515077

Prognosis

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
Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y
Invest Ophthalmol Vis Sci 2016 Jan 1;57(1):145-52. doi: 10.1167/iovs.15-18190. PMID: 26780318
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
Cohen SM, Gass JD
Int Ophthalmol 1994-1995;18(4):243-5. doi: 10.1007/BF00951806. PMID: 7541027

Clinical prediction guides

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
Hata M, Hata M, Andriessen EM, Juneau R, Pilon F, Crespo-Garcia S, Diaz-Marin R, Guber V, Binet F, Fournier F, Buscarlet M, Grou C, Calderon V, Heckel E, Melichar HJ, Joyal JS, Wilson AM, Sapieha P
J Clin Invest 2023 Feb 15;133(4) doi: 10.1172/JCI159757. PMID: 36787231Free PMC Article
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
Greven MA, Leung LB
Ophthalmic Surg Lasers Imaging Retina 2018 Apr 1;49(4):270-272. doi: 10.3928/23258160-20180329-10. PMID: 29664985
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

Watkins C, Paulo T, Bührer C, Holekamp NM, Bagijn M
Adv Ther 2023 Dec;40(12):5204-5221. Epub 2023 Sep 26 doi: 10.1007/s12325-023-02675-y. PMID: 37751021Free 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
Li JQ, Welchowski T, Schmid M, Mauschitz MM, Holz FG, Finger RP
Br J Ophthalmol 2020 Aug;104(8):1077-1084. Epub 2019 Nov 11 doi: 10.1136/bjophthalmol-2019-314422. PMID: 31712255
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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