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Patterned macular dystrophy 2(MDPT2)

MedGen UID:
332348
Concept ID:
C1837029
Disease or Syndrome
Synonym: Macular Dystrophy, Butterfly-Shaped Pigmentary, 2
 
Gene (location): CTNNA1 (5q31.2)
 
Monarch Initiative: MONDO:0012162
OMIM®: 608970

Definition

Butterfly-shaped pigmentary macular dystrophy is an autosomal dominant eye disease characterized by bilateral accumulation of pigment in the macular area that resembles the wings of a butterfly (summary by van Lith-Verhoeven et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of patterned macular dystrophy, see 169150. [from OMIM]

Clinical features

From HPO
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Drusen
MedGen UID:
488956
Concept ID:
C1260959
Finding
Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye.
Foveal hyperpigmentation
MedGen UID:
815631
Concept ID:
C3809301
Finding
Increased amount of pigmentation in the fovea centralis.
Pattern dystrophy of the retina
MedGen UID:
870319
Concept ID:
C4024762
Disease or Syndrome
A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation).

Professional guidelines

PubMed

Chauhan MZ, Rather PA, Samarah SM, Elhusseiny AM, Sallam AB
Cells 2022 Jun 17;11(12) doi: 10.3390/cells11121950. PMID: 35741079Free 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
Ricci F, Bandello F, Navarra P, Staurenghi G, Stumpp M, Zarbin M
Int J Mol Sci 2020 Nov 3;21(21) doi: 10.3390/ijms21218242. PMID: 33153227Free PMC Article

Recent clinical studies

Etiology

Lehrer S, Rheinstein PH
J Fr Ophtalmol 2022 Sep;45(7):756-761. Epub 2022 Jun 23 doi: 10.1016/j.jfo.2022.01.004. PMID: 35753852Free PMC Article
Heesterbeek TJ, Lorés-Motta L, Hoyng CB, Lechanteur YTE, den Hollander AI
Ophthalmic Physiol Opt 2020 Mar;40(2):140-170. Epub 2020 Feb 25 doi: 10.1111/opo.12675. PMID: 32100327Free PMC Article
Mulfaul K, Rhatigan M, Doyle S
Adv Exp Med Biol 2018;1074:19-28. doi: 10.1007/978-3-319-75402-4_3. PMID: 29721923
Ong BB, Ah-Fat FG
Br J Hosp Med (Lond) 2016 Feb;77(2):C18-21. doi: 10.12968/hmed.2016.77.2.C18. PMID: 26875813
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

Heesterbeek TJ, Lorés-Motta L, Hoyng CB, Lechanteur YTE, den Hollander AI
Ophthalmic Physiol Opt 2020 Mar;40(2):140-170. Epub 2020 Feb 25 doi: 10.1111/opo.12675. PMID: 32100327Free PMC Article
Accorinti M, Okada AA, Smith JR, Gilardi M
Ocul Immunol Inflamm 2019;27(2):169-180. Epub 2019 Mar 1 doi: 10.1080/09273948.2019.1576910. PMID: 30821631
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
Ong BB, Ah-Fat FG
Br J Hosp Med (Lond) 2016 Feb;77(2):C18-21. doi: 10.12968/hmed.2016.77.2.C18. PMID: 26875813
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

Iglicki M, González DP, Loewenstein A, Zur D
Eye (Lond) 2022 Feb;36(2):273-277. Epub 2021 Aug 9 doi: 10.1038/s41433-021-01722-8. PMID: 34373607Free PMC Article
Ricci F, Bandello F, Navarra P, Staurenghi G, Stumpp M, Zarbin M
Int J Mol Sci 2020 Nov 3;21(21) doi: 10.3390/ijms21218242. PMID: 33153227Free PMC Article
van Nispen RM, Virgili G, Hoeben M, Langelaan M, Klevering J, Keunen JE, van Rens GH
Cochrane Database Syst Rev 2020 Jan 27;1(1):CD006543. doi: 10.1002/14651858.CD006543.pub2. PMID: 31985055Free PMC Article
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
Ong BB, Ah-Fat FG
Br J Hosp Med (Lond) 2016 Feb;77(2):C18-21. doi: 10.12968/hmed.2016.77.2.C18. PMID: 26875813

Prognosis

Ricci F, Bandello F, Navarra P, Staurenghi G, Stumpp M, Zarbin M
Int J Mol Sci 2020 Nov 3;21(21) doi: 10.3390/ijms21218242. PMID: 33153227Free PMC Article
Accorinti M, Okada AA, Smith JR, Gilardi M
Ocul Immunol Inflamm 2019;27(2):169-180. Epub 2019 Mar 1 doi: 10.1080/09273948.2019.1576910. PMID: 30821631
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:139-151. doi: 10.1007/978-3-319-95046-4_27. PMID: 30578500
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
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

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
Heesterbeek TJ, Lorés-Motta L, Hoyng CB, Lechanteur YTE, den Hollander AI
Ophthalmic Physiol Opt 2020 Mar;40(2):140-170. Epub 2020 Feb 25 doi: 10.1111/opo.12675. PMID: 32100327Free PMC Article
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
Gulshan V, Peng L, Coram M, Stumpe MC, Wu D, Narayanaswamy A, Venugopalan S, Widner K, Madams T, Cuadros J, Kim R, Raman R, Nelson PC, Mega JL, Webster DR
JAMA 2016 Dec 13;316(22):2402-2410. doi: 10.1001/jama.2016.17216. PMID: 27898976
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

Wu Y, Xie Y, Yuan Y, Xiong R, Hu Y, Ning K, Ha J, Wang W, Han X, He M
Nutrients 2023 Apr 23;15(9) doi: 10.3390/nu15092043. PMID: 37432187Free PMC Article
Larsson SC, Burgess S
EBioMedicine 2022 Aug;82:104154. Epub 2022 Jul 8 doi: 10.1016/j.ebiom.2022.104154. PMID: 35816897Free PMC Article
van Nispen RM, Virgili G, Hoeben M, Langelaan M, Klevering J, Keunen JE, van Rens GH
Cochrane Database Syst Rev 2020 Jan 27;1(1):CD006543. doi: 10.1002/14651858.CD006543.pub2. PMID: 31985055Free PMC Article
Kuper WFE, van Alfen C, Rigterink RH, Fuchs SA, van Genderen MM, van Hasselt PM
J Inherit Metab Dis 2018 Mar;41(2):257-261. Epub 2018 Feb 1 doi: 10.1007/s10545-018-0143-x. PMID: 29392585Free PMC Article
Kawaguchi A, Sharafeldin N, Sundaram A, Campbell S, Tennant M, Rudnisky C, Weis E, Damji KF
Telemed J E Health 2018 Apr;24(4):301-308. Epub 2017 Aug 7 doi: 10.1089/tmj.2017.0100. PMID: 28783458Free PMC Article

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