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Patterned macular dystrophy 1(MDPT1)

MedGen UID:
1646806
Concept ID:
C4551999
Disease or Syndrome
Synonyms: Butterfly dystrophy of retinal pigment epithelium; Butterfly-shaped pigment dystrophy of the fovea; Macular dystrophy, butterfly-shaped pigmentary
 
Gene (location): PRPH2 (6p21.1)
 
Monarch Initiative: MONDO:0008210
OMIM®: 169150

Definition

Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders, characterized by an abnormal accumulation of lipofuscin in the RPE. The lipofuscin is most apparent in the macular area, and its distribution can show various sizes and shapes. High inter- and intrafamilial variability has been described, and retinitis pigmentosa (RP; see 268000)-like changes have sometimes been observed in association with patterned dystrophies (summary by Vaclavik et al., 2012). Three main varieties of patterned dystrophy of the RPE have been described: reticular ('fishnet-like') dystrophy (see 179840 and 267800), macroreticular ('spider-shaped') dystrophy, and butterfly-shaped pigment dystrophy of the fovea. Genetic Heterogeneity of Patterned Macular Dystrophy Also see MDPT2 (608970), caused by mutation in the CTNNA1 gene (116805) on chromosome 5q31; and MDPT3 (617111), caused by mutation in the MAPKAPK3 gene (602130) on chromosome 3p21. [from OMIM]

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
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.
Metamorphopsia
MedGen UID:
75739
Concept ID:
C0271185
Sign or Symptom
A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.
Absent foveal reflex
MedGen UID:
602333
Concept ID:
C0423420
Finding
Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.
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.
Macular dystrophy
MedGen UID:
196451
Concept ID:
C0730292
Disease or Syndrome
Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.
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).
Reticular retinal dystrophy
MedGen UID:
870333
Concept ID:
C4024776
Disease or Syndrome
A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation.
Yellow/white lesions of the retina
MedGen UID:
892718
Concept ID:
C4072991
Finding
Dark choroid
MedGen UID:
1369252
Concept ID:
C4476615
Finding
A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid).

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
Flaxel CJ, Adelman RA, Bailey ST, Fawzi A, Lim JI, Vemulakonda GA, Ying GS
Ophthalmology 2020 Jan;127(1):P1-P65. Epub 2019 Sep 25 doi: 10.1016/j.ophtha.2019.09.024. PMID: 31757502

Recent clinical studies

Therapy

Lindeke-Myers A, Hanif AM, Jain N
Surv Ophthalmol 2022 Jan-Feb;67(1):83-96. Epub 2021 May 14 doi: 10.1016/j.survophthal.2021.05.005. PMID: 34000253
Flaxel CJ, Adelman RA, Bailey ST, Fawzi A, Lim JI, Vemulakonda GA, Ying GS
Ophthalmology 2020 Jan;127(1):P1-P65. Epub 2019 Sep 25 doi: 10.1016/j.ophtha.2019.09.024. PMID: 31757502
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
Zur D, Loewenstein A
Dev Ophthalmol 2017;58:178-190. Epub 2017 Mar 28 doi: 10.1159/000455280. PMID: 28351047

Prognosis

Keenan TDL, Cukras CA, Chew EY
Adv Exp Med Biol 2021;1256:1-31. doi: 10.1007/978-3-030-66014-7_1. PMID: 33847996
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
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

Keenan TDL, Cukras CA, Chew EY
Adv Exp Med Biol 2021;1256:1-31. doi: 10.1007/978-3-030-66014-7_1. PMID: 33847996
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
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

Nissen AHK, Kiilgaard HC, van Dijk EHC, Hajari JN, Huemer J, Iovino C, Schneider M, Sørensen TL, Grauslund J, Subhi Y
Am J Ophthalmol 2024 Jan;257:46-56. Epub 2023 Sep 1 doi: 10.1016/j.ajo.2023.08.020. PMID: 37659600
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
Zhang J, Mitsuhashi T, Matsuo T, Yorifuji T, Hamada J, Liu Y
Curr Eye Res 2021 Dec;46(12):1900-1907. Epub 2021 Jun 30 doi: 10.1080/02713683.2021.1942070. PMID: 34115943
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
Annweiler C, Drouet M, Duval GT, Paré PY, Leruez S, Dinomais M, Milea D
Maturitas 2016 Jun;88:101-12. Epub 2016 Apr 2 doi: 10.1016/j.maturitas.2016.04.002. PMID: 27105707

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