MCID: MCL060
MIFTS: 38

Macular Dystrophy, Vitelliform, 3

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Macular Dystrophy, Vitelliform, 3

MalaCards integrated aliases for Macular Dystrophy, Vitelliform, 3:

Name: Macular Dystrophy, Vitelliform, 3 57 75
Adult-Onset Vitelliform Macular Dystrophy 53 59 75 73
Avmd 57 53 59 75
Macular Dystrophy, Vitelliform, Adult-Onset 53 29 6
Aofmd 57 59 75
Foveomacular Dystrophy, Adult-Onset, with or Without Choroidal Neovascularization 57 75
Foveomacular Dystrophy, Adult-Onset, with Choroidal Neovascularization 53 13
Adult-Onset Foveomacular Vitelliform Dystrophy 53 59
Vitelliform Macular Dystrophy, Adult-Onset 57 53
Foveomacular Dystrophy, Adult-Onset; Aofmd 57 53
Adult-Onset Foveomacular Dystrophy 59 75
Vmd3 57 75
Adult-Onset Foveomacular Dystrophy with Choroidal Neovascularization 59
Vitelliform Macular Dystrophy, Adult-Onset; Avmd 57
Dystrophy, Macular, Vitelliform, Type 3 40
Pseudo-Vitelliform Macular Dystrophy 59
Foveomacular Dystrophy, Adult-Onset 57
Pseudo-Best Disease 59
Gass Disease 59

Characteristics:

Orphanet epidemiological data:

59
adult-onset foveomacular vitelliform dystrophy
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability
onset between second to sixth decades of life
slowly progressive disease


HPO:

32
macular dystrophy, vitelliform, 3:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 608161
Orphanet 59 ORPHA99000
UMLS via Orphanet 74 C1842914
ICD10 via Orphanet 34 H35.5
MedGen 42 C1842914
MeSH 44 D057826
UMLS 73 C1842914

Summaries for Macular Dystrophy, Vitelliform, 3

OMIM : 57 Adult-onset foveomacular vitelliform dystrophy, also known as adult vitelliform macular dystrophy, adult-type foveomacular dystrophy, adult vitelliform macular degeneration, pseudovitelliform macular degeneration, and adult-onset foveomacular pigment epithelial dystrophy, is characterized by a solitary, oval, slightly elevated yellowish subretinal lesion of the fovea that is similar in appearance to the vitelliform or egg-yolk stage of Best disease (153700). Initially the yellow lesion may be present in only one eye. The size is generally one-third to one disc diameter, and small yellow flecks are seen in the paracentral lesion. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted decrease of visual acuity and mild metamorphopsia. Electrooculographic testing reveals a normal or only slightly reduced Arden ratio, which is intensely abnormal in Best disease. The prognosis is optimistic, as most patients retain reading vision throughout life (Felbor et al., 1997; Yamaguchi et al., 2001). For a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 (153840). (608161)

MalaCards based summary : Macular Dystrophy, Vitelliform, 3, also known as adult-onset vitelliform macular dystrophy, is related to vitelliform macular dystrophy and vitreoretinochoroidopathy dominant, and has symptoms including photophobia and metamorphopsia. An important gene associated with Macular Dystrophy, Vitelliform, 3 is PRPH2 (Peripherin 2). Affiliated tissues include eye, testes and retina, and related phenotypes are visual impairment and abnormality of color vision

NIH Rare Diseases : 53 Adult-onset vitelliform macular dystrophy (AVMD) is an eye disorder that can cause progressive vision loss. AVMD affects an area of the retina called the macula, which is responsible for sharp central vision. The condition causes a fatty yellow pigment to accumulate in cells underlying the macula, eventually damaging the cells. AVMD usually begins after age 40. Some people remain without symptoms throughout their life. Other people with AVMD may slowly develop blurred and/or distorted vision, that can progress to central vision loss over time. In the past, AVMD was believed to be mainly a genetic disorder caused by mutations in the PRPH2, BEST1, IMPG1, and IMPG2 genes; however, recent studies focused on genetic testing suggest that the genetic cause for most cases of AVMD has not been found. Sometimes AVMD clearly runs in families in an autosomal dominant manner, but the inheritance is suspected to be more complicated in the majority of cases.

UniProtKB/Swiss-Prot : 75 Macular dystrophy, vitelliform, 3: A form of vitelliform macular dystrophy, a retinal disease characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity.

Related Diseases for Macular Dystrophy, Vitelliform, 3

Graphical network of the top 20 diseases related to Macular Dystrophy, Vitelliform, 3:



Diseases related to Macular Dystrophy, Vitelliform, 3

Symptoms & Phenotypes for Macular Dystrophy, Vitelliform, 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
photophobia
metamorphopsia
decreased visual acuity
normal color vision
vitelliform ('egg-yolk') deposits, macular or multifocal
more

Clinical features from OMIM:

608161

Human phenotypes related to Macular Dystrophy, Vitelliform, 3:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
2 abnormality of color vision 59 32 frequent (33%) Frequent (79-30%) HP:0000551
3 visual field defect 59 32 frequent (33%) Frequent (79-30%) HP:0001123
4 choroideremia 59 32 frequent (33%) Frequent (79-30%) HP:0001139
5 iris hypopigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007730
6 retinal nonattachment 59 32 occasional (7.5%) Occasional (29-5%) HP:0007899
7 abnormality of the eye 59 Very frequent (99-80%)
8 abnormality of vision 59 Very frequent (99-80%)
9 vitelliform maculopathy 59 Very frequent (99-80%)
10 photophobia 32 HP:0000613
11 macular atrophy 32 HP:0007401
12 reduced visual acuity 32 HP:0007663
13 vitelliform-like macular lesions 32 hallmark (90%) HP:0007677
14 macular dystrophy 32 HP:0007754
15 metamorphopsia 32 HP:0012508

UMLS symptoms related to Macular Dystrophy, Vitelliform, 3:


photophobia, metamorphopsia

GenomeRNAi Phenotypes related to Macular Dystrophy, Vitelliform, 3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability ratio GR00368-A 8.92 BEST1 IMPG1 IMPG2 PRPH2

Drugs & Therapeutics for Macular Dystrophy, Vitelliform, 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases. Active, not recruiting NCT02162953

Search NIH Clinical Center for Macular Dystrophy, Vitelliform, 3

Genetic Tests for Macular Dystrophy, Vitelliform, 3

Genetic tests related to Macular Dystrophy, Vitelliform, 3:

# Genetic test Affiliating Genes
1 Macular Dystrophy, Vitelliform, Adult-Onset 29 PRPH2

Anatomical Context for Macular Dystrophy, Vitelliform, 3

MalaCards organs/tissues related to Macular Dystrophy, Vitelliform, 3:

41
Eye, Testes, Retina

Publications for Macular Dystrophy, Vitelliform, 3

Articles related to Macular Dystrophy, Vitelliform, 3:

# Title Authors Year
1
Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy. ( 28831140 )
2017
2
Choroidal thickness using EDI-OCT in adult-onset vitelliform macular dystrophy. ( 27847623 )
2016
3
Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns-Sayre syndrome with multiple mtDNA deletions. ( 20497429 )
2010
4
Spectral domain optical coherence tomography in adult-onset vitelliform macular dystrophy with cuticular drusen. ( 20683378 )
2010
5
[Optical coherence tomography in diagnosing adult-onset vitelliform macular dystrophy]. ( 18488391 )
2007
6
The bestrophin mutation A243V, linked to adult-onset vitelliform macular dystrophy, impairs its chloride channel function. ( 17065513 )
2006
7
Macular translocation in adult-onset vitelliform macular dystrophy: a therapy to be recommended? ( 15138767 )
2004
8
Morphological and functional analyses of adult onset vitelliform macular dystrophy. ( 12770976 )
2003
9
Photodynamic therapy in adult-onset vitelliform macular dystrophy misdiagnosed as choroidal neovascularization. ( 12470159 )
2002

Variations for Macular Dystrophy, Vitelliform, 3

UniProtKB/Swiss-Prot genetic disease variations for Macular Dystrophy, Vitelliform, 3:

75
# Symbol AA change Variation ID SNP ID
1 PRPH2 p.Leu45Phe VAR_006855 rs61755770
2 PRPH2 p.Ser212Thr VAR_006878
3 PRPH2 p.Val268Ile VAR_006890
4 PRPH2 p.Gly305Asp VAR_006892
5 PRPH2 p.Cys213Phe VAR_071974
6 PRPH2 p.Tyr141Cys VAR_075761
7 PRPH2 p.Val209Ile VAR_075763

ClinVar genetic disease variations for Macular Dystrophy, Vitelliform, 3:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRPH2 NM_000322.4(PRPH2): c.774C> A (p.Tyr258Ter) single nucleotide variant Pathogenic rs121918564 GRCh37 Chromosome 6, 42672157: 42672157
2 PRPH2 NM_000322.4(PRPH2): c.774C> A (p.Tyr258Ter) single nucleotide variant Pathogenic rs121918564 GRCh38 Chromosome 6, 42704419: 42704419
3 PRPH2 NM_000322.4(PRPH2): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121918565 GRCh37 Chromosome 6, 42690071: 42690071
4 PRPH2 NM_000322.4(PRPH2): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121918565 GRCh38 Chromosome 6, 42722333: 42722333
5 PRPH2 NM_000322.4(PRPH2): c.947G> A (p.Trp316Ter) single nucleotide variant Pathogenic rs121918566 GRCh37 Chromosome 6, 42666127: 42666127
6 PRPH2 NM_000322.4(PRPH2): c.947G> A (p.Trp316Ter) single nucleotide variant Pathogenic rs121918566 GRCh38 Chromosome 6, 42698389: 42698389
7 PRPH2 NM_000322.4(PRPH2): c.113delG (p.Gly38Aspfs) deletion Pathogenic rs61755769 GRCh37 Chromosome 6, 42689960: 42689960
8 PRPH2 NM_000322.4(PRPH2): c.113delG (p.Gly38Aspfs) deletion Pathogenic rs61755769 GRCh38 Chromosome 6, 42722222: 42722222
9 PRPH2 NM_000322.4(PRPH2): c.422A> G (p.Tyr141Cys) single nucleotide variant Pathogenic rs61755781 GRCh37 Chromosome 6, 42689651: 42689651
10 PRPH2 NM_000322.4(PRPH2): c.422A> G (p.Tyr141Cys) single nucleotide variant Pathogenic rs61755781 GRCh38 Chromosome 6, 42721913: 42721913
11 PRPH2 NM_000322.4(PRPH2): c.636C> G (p.Ser212Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 42704557: 42704557
12 PRPH2 NM_000322.4(PRPH2): c.636C> G (p.Ser212Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 42672295: 42672295

Expression for Macular Dystrophy, Vitelliform, 3

Search GEO for disease gene expression data for Macular Dystrophy, Vitelliform, 3.

Pathways for Macular Dystrophy, Vitelliform, 3

GO Terms for Macular Dystrophy, Vitelliform, 3

Biological processes related to Macular Dystrophy, Vitelliform, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 8.92 BEST1 IMPG1 IMPG2 PRPH2

Molecular functions related to Macular Dystrophy, Vitelliform, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 IMPG1 IMPG2

Sources for Macular Dystrophy, Vitelliform, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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