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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

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
Yun SH, Adelman RA
Middle East Afr J Ophthalmol 2015 Apr-Jun;22(2):157-63. doi: 10.4103/0974-9233.150633. PMID: 25949072Free PMC Article

Recent clinical studies

Etiology

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
Singh N, Srinivasan S, Muralidharan V, Roy R, V J, Raman R
Asia Pac J Ophthalmol (Phila) 2017 Nov-Dec;6(6):520-526. doi: 10.22608/APO.2017416. PMID: 29204995
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
Broadhead GK, Grigg JR, Chang AA, McCluskey P
Nutr Rev 2015 Jul;73(7):448-62. Epub 2015 Apr 28 doi: 10.1093/nutrit/nuv005. PMID: 26081455
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

Bae SS, Sodhi M, Maberley D, Kezouh A, Etminan M
Br J Clin Pharmacol 2022 Jul;88(7):3428-3433. Epub 2022 Mar 22 doi: 10.1111/bcp.15303. PMID: 35277990
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: 23332590

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
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
Singh N, Srinivasan S, Muralidharan V, Roy R, V J, Raman R
Asia Pac J Ophthalmol (Phila) 2017 Nov-Dec;6(6):520-526. doi: 10.22608/APO.2017416. PMID: 29204995
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: 23332590

Clinical prediction guides

Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free 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
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: 23332590

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
Ma X, Wang Y, Wang N, Zhang R
J Neurol 2022 Mar;269(3):1272-1281. Epub 2021 Jul 10 doi: 10.1007/s00415-021-10703-6. PMID: 34245345
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
Shen LL, Liu F, Nardini HG, Del Priore LV
Retina 2019 Oct;39(10):1829-1839. doi: 10.1097/IAE.0000000000002480. PMID: 30829988

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