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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): Gene(s) directly associated with this condition or phenotype.	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.

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Night blindness

MedGen UID:: 10349
•Concept ID:: C0028077
•: Disease or Syndrome

Inability to see well at night or in poor light.

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Reduced visual acuity

MedGen UID:: 65889
•Concept ID:: C0234632
•: Finding

Diminished clarity of vision.

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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.

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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.

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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.

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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.

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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).

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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.

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Yellow/white lesions of the retina

MedGen UID:: 892718
•Concept ID:: C4072991
•: Finding

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Dark choroid

MedGen UID:: 1369252
•Concept ID:: C4476615
•: Finding

A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid).

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Abnormality of the eye
Abnormality of the nervous system
- Photophobia

Professional guidelines

PubMed

Current and Novel Therapeutic Approaches for Treatment of Diabetic Macular Edema.

Chauhan MZ, Rather PA, Samarah SM, Elhusseiny AM, Sallam AB
Cells 2022 Jun 17;11(12) doi: 10.3390/cells11121950. PMID: 35741079 Free PMC Article

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: 35120629 Free 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

See all (114)

Recent clinical studies

Etiology

Pentosan polysulfate maculopathy.

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

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

INTRARETINAL HYPERREFLECTIVE LINES.

Amoroso F, Mrejen S, Pedinielli A, Tabary S, Souied EH, Gaudric A, Cohen SY
Retina 2021 Jan 1;41(1):82-92. doi: 10.1097/IAE.0000000000002806. PMID: 32251237

Prevention of Age-Related Macular Degeneration.

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

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 Free PMC Article

See all (1228)

Diagnosis

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

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

The Progression of Geographic Atrophy Secondary to Age-Related Macular Degeneration.

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

Postsurgical Cystoid Macular Edema.

Zur D, Loewenstein A
Dev Ophthalmol 2017;58:178-190. Epub 2017 Mar 28 doi: 10.1159/000455280. PMID: 28351047

Clinical classification of age-related macular degeneration.

See all (907)

Therapy

Pentosan polysulfate maculopathy.

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

The Progression of Geographic Atrophy Secondary to Age-Related Macular Degeneration.

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

Prevention of Age-Related Macular Degeneration.

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

Postsurgical Cystoid Macular Edema.

Zur D, Loewenstein A
Dev Ophthalmol 2017;58:178-190. Epub 2017 Mar 28 doi: 10.1159/000455280. PMID: 28351047

See all (722)

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

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

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: 33691693 Free PMC Article

Stargardt Disease.

Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:139-151. doi: 10.1007/978-3-319-95046-4_27. PMID: 30578500

The Progression of Geographic Atrophy Secondary to Age-Related Macular Degeneration.

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

Clinical classification of age-related macular degeneration.

See all (553)

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

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

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: 33691693 Free PMC Article

The Progression of Geographic Atrophy Secondary to Age-Related Macular Degeneration.

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

Development and Validation of a Deep Learning Algorithm for Detection of Diabetic Retinopathy in Retinal Fundus Photographs.

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

Clinical classification of age-related macular degeneration.

See all (713)

Recent systematic reviews

The Mediterranean Diet and Age-Related Eye Diseases: A Systematic Review.

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: 37432187 Free PMC Article

Smoking, dietary factors and major age-related eye disorders: an umbrella review of systematic reviews and meta-analyses.

Kai JY, Zhou M, Li DL, Zhu KY, Wu Q, Zhang XF, Pan CW
Br J Ophthalmol 2023 Dec 18;108(1):51-57. doi: 10.1136/bjo-2022-322325. PMID: 36575624

Alcohol Consumption and Age-related Macular Degeneration: A Systematic Review and Dose-response Meta-analysis.

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

Low vision rehabilitation for better quality of life in visually impaired adults.

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: 31985055 Free PMC Article

Circulating vitamin D concentration and age-related macular degeneration: Systematic review and meta-analysis.

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

See all (35)

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Patterned macular dystrophy 1(MDPT1)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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