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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.
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Reduced OCT-measured foveal thickness
MedGen UID:
892629
•Concept ID:
C4073089
•
Finding
See: Feature record | Search on this feature

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
Guidelines for the Management of Diabetic Macular Edema by the European Society of Retina Specialists (EURETINA).
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

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
Incomplete Retinal Pigment Epithelial and Outer Retinal Atrophy in Age-Related Macular Degeneration: Classification of Atrophy Meeting Report 4.
Guymer RH, Rosenfeld PJ, Curcio CA, Holz FG, Staurenghi G, Freund KB, Schmitz-Valckenberg S, Sparrow J, Spaide RF, Tufail A, Chakravarthy U, Jaffe GJ, Csaky K, Sarraf D, Monés JM, Tadayoni R, Grunwald J, Bottoni F, Liakopoulos S, Pauleikhoff D, Pagliarini S, Chew EY, Viola F, Fleckenstein M, Blodi BA, Lim TH, Chong V, Lutty J, Bird AC, Sadda SR
Ophthalmology 2020 Mar;127(3):394-409. Epub 2019 Sep 30 doi: 10.1016/j.ophtha.2019.09.035. PMID: 31708275Free PMC Article
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
Consensus Definition for Atrophy Associated with Age-Related Macular Degeneration on OCT: Classification of Atrophy Report 3.
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: 29103793
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: 23332590

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
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
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
Consensus Definition for Atrophy Associated with Age-Related Macular Degeneration on OCT: Classification of Atrophy Report 3.
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: 29103793
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: 23332590

Therapy

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
Avacincaptad pegol for geographic atrophy secondary to age-related macular degeneration: 18-month findings from the GATHER1 trial.
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
C5 Inhibitor Avacincaptad Pegol for Geographic Atrophy Due to Age-Related Macular Degeneration: A Randomized Pivotal Phase 2/3 Trial.
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
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
Phase 1 clinical study of an embryonic stem cell-derived retinal pigment epithelium patch in age-related macular degeneration.
da Cruz L, Fynes K, Georgiadis O, Kerby J, Luo YH, Ahmado A, Vernon A, Daniels JT, Nommiste B, Hasan SM, Gooljar SB, Carr AF, Vugler A, Ramsden CM, Bictash M, Fenster M, Steer J, Harbinson T, Wilbrey A, Tufail A, Feng G, Whitlock M, Robson AG, Holder GE, Sagoo MS, Loudon PT, Whiting P, Coffey PJ
Nat Biotechnol 2018 Apr;36(4):328-337. Epub 2018 Mar 19 doi: 10.1038/nbt.4114. PMID: 29553577

Prognosis

Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5.
Fujinami-Yokokawa Y, Yang L, Joo K, Tsunoda K, Liu X, Kondo M, Ahn SJ, Li H, Park KH, Tachimori H, Miyata H, Woo SJ, Sui R, Fujinami K
Genes (Basel) 2023 Sep 26;14(10) doi: 10.3390/genes14101869. PMID: 37895218Free PMC Article
Coincident PAMM and AMN and Insights Into a Common Pathophysiology.
Iovino C, Au A, Ramtohul P, Bacci T, AlBahlal A, Khan AM, Al-Abdullah AA, Wendel R, Chhablani J, Sadda S, Freund KB, Sarraf D
Am J Ophthalmol 2022 Apr;236:136-146. Epub 2021 Jul 18 doi: 10.1016/j.ajo.2021.07.004. PMID: 34283978
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
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
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
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: 23332590

Clinical prediction guides

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
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
Early-life peripheral infections reprogram retinal microglia and aggravate neovascular age-related macular degeneration in later life.
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
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: 23332590

Recent systematic reviews

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
Prevalence and incidence of age-related macular degeneration in Europe: a systematic review and meta-analysis.
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
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

Supplemental Content

Table of contents

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    Related information

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      Related medical variations
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      Related information in NCBI Gene
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      Related records in OMIM
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      OMIM records containing genes associated with phenotypes registered in MedGen
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