MCID: OCC002
MIFTS: 33

Occult Macular Dystrophy

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Occult Macular Dystrophy

MalaCards integrated aliases for Occult Macular Dystrophy:

Name: Occult Macular Dystrophy 57 12 59 75 37 29 13 6 15 40 73
Ocmd 57 59 75
Omd 57 59 75

Characteristics:

Orphanet epidemiological data:

59
occult macular dystrophy
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable age of onset, from 6 to 50 years of age
progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200)


HPO:

32
occult macular dystrophy:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 613587
Disease Ontology 12 DOID:0050578
Orphanet 59 ORPHA247834
ICD10 via Orphanet 34 H35.5
MedGen 42 C3150833
MeSH 44 D008268
KEGG 37 H01010
SNOMED-CT via HPO 69 263681008
UMLS 73 C3150833

Summaries for Occult Macular Dystrophy

OMIM : 57 Occult macular dystrophy is characterized by progressive decline of visual acuity in both eyes, associated with a normal fundus and normal fluorescein angiography. Patients have normal full-field electroretinograms (ERGs) but severely reduced focal macular ERGs, as recorded by conventional techniques using small stimuli under background illumination. OCMD patients are believed to have localized retinal dysfunction distal to the ganglion cells in the central retina (summary by Piao et al., 2000). (613587)

MalaCards based summary : Occult Macular Dystrophy, also known as ocmd, is related to hallermann-streiff syndrome and retinitis pigmentosa 1. An important gene associated with Occult Macular Dystrophy is RP1L1 (RP1 Like 1). Affiliated tissues include retina and eye, and related phenotypes are slow decrease in visual acuity and macular dystrophy

Disease Ontology : 12 A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings.

UniProtKB/Swiss-Prot : 75 Occult macular dystrophy: An inherited macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. It is typically characterized by a central cone dysfunction leading to a loss of vision despite normal ophthalmoscopic appearance, normal fluorescein angiography, and normal full-field electroretinogram (ERGs), but the amplitudes of the focal macular ERGs and multifocal ERGs are significantly reduced at the central retina.

Related Diseases for Occult Macular Dystrophy

Diseases related to Occult Macular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 hallermann-streiff syndrome 10.9
2 retinitis pigmentosa 1 10.0 DCX RP1L1
3 polycystic kidney disease 10.0
4 retinitis 10.0
5 prolonged electroretinal response suppression 9.9 ABCA4 KCNV2
6 aneurysmal bone cysts 9.9
7 aneurysm 9.9
8 retinal detachment 9.8
9 retinitis pigmentosa 9.8
10 leber congenital amaurosis 4 9.8
11 stargardt disease 9.8
12 retinal disease 9.8
13 cone-rod dystrophy 2 9.7 ABCA4 KCNV2

Graphical network of the top 20 diseases related to Occult Macular Dystrophy:



Diseases related to Occult Macular Dystrophy

Symptoms & Phenotypes for Occult Macular Dystrophy

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
decreased visual acuity, slowly progressive
normal fundus on ophthalmoscopy
normal full-field electroretinogram
severely reduced focal macular electroretinogram


Clinical features from OMIM:

613587

Human phenotypes related to Occult Macular Dystrophy:

32
# Description HPO Frequency HPO Source Accession
1 slow decrease in visual acuity 32 HP:0007924
2 macular dystrophy 32 hallmark (90%) HP:0007754
3 abnormal multifocal electroretinogram 32 HP:0030468

Drugs & Therapeutics for Occult Macular Dystrophy

Search Clinical Trials , NIH Clinical Center for Occult Macular Dystrophy

Genetic Tests for Occult Macular Dystrophy

Genetic tests related to Occult Macular Dystrophy:

# Genetic test Affiliating Genes
1 Occult Macular Dystrophy 29 RP1L1

Anatomical Context for Occult Macular Dystrophy

MalaCards organs/tissues related to Occult Macular Dystrophy:

41
Retina, Eye

Publications for Occult Macular Dystrophy

Articles related to Occult Macular Dystrophy:

(show all 44)
# Title Authors Year
1
Parafoveal Photoreceptor Abnormalities in Asymptomatic Patients With RP1L1 Mutations in Families With Occult Macular Dystrophy. ( 29196766 )
2017
2
CLINICAL FEATURES IN A CASE OF OCCULT MACULAR DYSTROPHY WITH RP1L1 MUTATION. ( 28195981 )
2017
3
ERG and OCT findings of a patient with a clinical diagnosis of occult macular dystrophy in a patient of Ashkenazi Jewish descent associated with a novel mutation in the gene encoding RP1L1. ( 28473427 )
2017
4
Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family. ( 28890726 )
2017
5
Structure-functional correlation using adaptive optics, OCT, and microperimetry in a case of occult macular dystrophy. ( 28591286 )
2017
6
Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy. ( 27623337 )
2016
7
Occult Macular Dystrophy. ( 27800268 )
2016
8
Structural and functional evaluation of macula in a 9-year-old boy with occult macular dystrophy and his affected elder sibling. ( 27013831 )
2016
9
Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene. ( 26782618 )
2016
10
OCCULT MACULAR DYSTROPHY WITH MUTATIONS IN THE RP1L1 AND KCNV2 GENES. ( 27579568 )
2016
11
Occult macular dystrophy. ( 25665791 )
2015
12
Pathologic Changes of Cone Photoreceptors in Eyes With Occult Macular Dystrophy. ( 26544792 )
2015
13
Multimodal imaging and multifocal electroretinography demonstrate autosomal recessive Stargardt disease may present like occult macular dystrophy. ( 24743636 )
2014
14
Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P). ( 24838559 )
2014
15
Multimodal imaging of occult macular dystrophy. ( 24010148 )
2013
16
RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy. ( 23281133 )
2013
17
Clinical and genetic characteristics of Korean occult macular dystrophy patients. ( 23745001 )
2013
18
Microperimetry in a case of occult macular dystrophy. ( 24093195 )
2013
19
Elderly case of pseudo-unilateral occult macular dystrophy with Arg45Trp mutation in RP1L1 gene. ( 23619761 )
2013
20
Analysis of macular cone photoreceptors in a case of occult macular dystrophy. ( 23696695 )
2013
21
Clinical characteristics of occult macular dystrophy in family with mutation of RP1l1 gene. ( 22466457 )
2012
22
Autosomal dominant occult macular dystrophy with an RP1L1 mutation (R45W). ( 22504327 )
2012
23
A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms. ( 22605915 )
2012
24
Characterizing the phenotype and genotype of a family with occult macular dystrophy. ( 23229695 )
2012
25
Analysis of spectral domain optical coherence tomography findings in occult macular dystrophy. ( 20560888 )
2011
26
Detection of photoreceptor disruption by adaptive optics fundus imaging and Fourier-domain optical coherence tomography in eyes with occult macular dystrophy. ( 21468344 )
2011
27
Fundus autofluorescence in autosomal dominant occult macular dystrophy. ( 21555613 )
2011
28
Morphologic photoreceptor abnormality in occult macular dystrophy on spectral-domain optical coherence tomography. ( 20164460 )
2010
29
Dominant mutations in RP1L1 are responsible for occult macular dystrophy. ( 20826268 )
2010
30
Pattern-reversal visual-evoked potential in patients with occult macular dystrophy. ( 21191449 )
2010
31
Loss of Foveal Cone Photoreceptor Outer Segments in Occult Macular Dystrophy. ( 20337322 )
2010
32
Fundus autofluorescence in a case of occult macular dystrophy. ( 20108567 )
2009
33
Spectral domain optical coherence tomographic findings of occult macular dystrophy. ( 19320307 )
2009
34
A 43-year-old man with reduced visual acuity and normal fundus: occult macular dystrophy--case report. ( 17955274 )
2008
35
Abnormalities of visual-evoked potentials and pupillary light reflexes in a family with autosomal dominant occult macular dystrophy. ( 17997791 )
2007
36
Optical coherence tomography findings in occult macular dystrophy. ( 17317401 )
2007
37
Non-familial occult macular dystrophy. ( 16502307 )
2005
38
Occult macular dystrophy in an 11 year old boy. ( 15548825 )
2004
39
Foveal thickness in occult macular dystrophy. ( 12719092 )
2003
40
Multifocal electroretinogram (mfERG) in a family with occult macular dystrophy (OMD). ( 12664360 )
2003
41
A case of occult macular dystrophy accompanying normal-tension glaucoma. ( 12719086 )
2003
42
Multifocal electroretinogram in occult macular dystrophy. ( 10670483 )
2000
43
Multifocal electroretinography in patients with occult macular dystrophy. ( 10636668 )
1999
44
Occult macular dystrophy. ( 8909203 )
1996

Variations for Occult Macular Dystrophy

UniProtKB/Swiss-Prot genetic disease variations for Occult Macular Dystrophy:

75
# Symbol AA change Variation ID SNP ID
1 RP1L1 p.Arg45Trp VAR_065126 rs267607017
2 RP1L1 p.Trp960Arg VAR_065127 rs267607018
3 RP1L1 p.Ser1199Cys VAR_068350 rs863225442

ClinVar genetic disease variations for Occult Macular Dystrophy:

6
(show top 50) (show all 522)
# Gene Variation Type Significance SNP ID Assembly Location
1 RP1L1 NM_178857.5(RP1L1): c.133C> T (p.Arg45Trp) single nucleotide variant Likely pathogenic rs267607017 GRCh37 Chromosome 8, 10480579: 10480579
2 RP1L1 NM_178857.5(RP1L1): c.133C> T (p.Arg45Trp) single nucleotide variant Likely pathogenic rs267607017 GRCh38 Chromosome 8, 10623069: 10623069
3 RP1L1 NM_178857.5(RP1L1): c.2878T> C (p.Trp960Arg) single nucleotide variant Pathogenic rs267607018 GRCh37 Chromosome 8, 10468730: 10468730
4 RP1L1 NM_178857.5(RP1L1): c.2878T> C (p.Trp960Arg) single nucleotide variant Pathogenic rs267607018 GRCh38 Chromosome 8, 10611220: 10611220
5 RP1L1 NM_178857.5(RP1L1): c.6063delC (p.Asp2021Glufs) deletion Uncertain significance rs572305644 GRCh37 Chromosome 8, 10465545: 10465545
6 RP1L1 NM_178857.5(RP1L1): c.6063delC (p.Asp2021Glufs) deletion Uncertain significance rs572305644 GRCh38 Chromosome 8, 10608035: 10608035
7 RP1L1 NM_178857.5(RP1L1): c.3956_3957insAAGAAGAGAG (p.Val1320Argfs) insertion Uncertain significance rs773894295 GRCh37 Chromosome 8, 10467651: 10467652
8 RP1L1 NM_178857.5(RP1L1): c.3956_3957insAAGAAGAGAG (p.Val1320Argfs) insertion Uncertain significance rs773894295 GRCh38 Chromosome 8, 10610141: 10610142
9 RP1L1 NM_178857.5(RP1L1): c.324_325insT (p.Pro109Serfs) insertion Conflicting interpretations of pathogenicity rs138816053 GRCh38 Chromosome 8, 10622877: 10622878
10 RP1L1 NM_178857.5(RP1L1): c.324_325insT (p.Pro109Serfs) insertion Conflicting interpretations of pathogenicity rs138816053 GRCh37 Chromosome 8, 10480387: 10480388
11 RP1L1 NM_178857.5(RP1L1): c.*335T> G single nucleotide variant Benign rs58309857 GRCh37 Chromosome 8, 10464070: 10464070
12 RP1L1 NM_178857.5(RP1L1): c.*335T> G single nucleotide variant Benign rs58309857 GRCh38 Chromosome 8, 10606560: 10606560
13 RP1L1 NM_178857.5(RP1L1): c.*307T> C single nucleotide variant Likely benign rs146542491 GRCh37 Chromosome 8, 10464098: 10464098
14 RP1L1 NM_178857.5(RP1L1): c.*307T> C single nucleotide variant Likely benign rs146542491 GRCh38 Chromosome 8, 10606588: 10606588
15 RP1L1 NM_178857.5(RP1L1): c.*265G> T single nucleotide variant Uncertain significance rs567494148 GRCh37 Chromosome 8, 10464140: 10464140
16 RP1L1 NM_178857.5(RP1L1): c.*265G> T single nucleotide variant Uncertain significance rs567494148 GRCh38 Chromosome 8, 10606630: 10606630
17 RP1L1 NM_178857.5(RP1L1): c.*27delG deletion Benign rs143284016 GRCh37 Chromosome 8, 10464378: 10464378
18 RP1L1 NM_178857.5(RP1L1): c.*27delG deletion Benign rs143284016 GRCh38 Chromosome 8, 10606868: 10606868
19 RP1L1 NM_178857.5(RP1L1): c.7047T> C (p.Thr2349=) single nucleotide variant Likely benign rs202213014 GRCh37 Chromosome 8, 10464561: 10464561
20 RP1L1 NM_178857.5(RP1L1): c.7047T> C (p.Thr2349=) single nucleotide variant Likely benign rs202213014 GRCh38 Chromosome 8, 10607051: 10607051
21 RP1L1 NM_178857.5(RP1L1): c.6718G> C (p.Glu2240Gln) single nucleotide variant Benign rs80000074 GRCh37 Chromosome 8, 10464890: 10464890
22 RP1L1 NM_178857.5(RP1L1): c.6718G> C (p.Glu2240Gln) single nucleotide variant Benign rs80000074 GRCh38 Chromosome 8, 10607380: 10607380
23 RP1L1 NM_178857.5(RP1L1): c.6644C> T (p.Pro2215Leu) single nucleotide variant Likely benign rs187850525 GRCh37 Chromosome 8, 10464964: 10464964
24 RP1L1 NM_178857.5(RP1L1): c.6644C> T (p.Pro2215Leu) single nucleotide variant Likely benign rs187850525 GRCh38 Chromosome 8, 10607454: 10607454
25 RP1L1 NM_178857.5(RP1L1): c.6603A> T (p.Ala2201=) single nucleotide variant Uncertain significance rs886062574 GRCh37 Chromosome 8, 10465005: 10465005
26 RP1L1 NM_178857.5(RP1L1): c.6603A> T (p.Ala2201=) single nucleotide variant Uncertain significance rs886062574 GRCh38 Chromosome 8, 10607495: 10607495
27 RP1L1 NM_178857.5(RP1L1): c.6596C> T (p.Pro2199Leu) single nucleotide variant Benign rs75797924 GRCh37 Chromosome 8, 10465012: 10465012
28 RP1L1 NM_178857.5(RP1L1): c.6596C> T (p.Pro2199Leu) single nucleotide variant Benign rs75797924 GRCh38 Chromosome 8, 10607502: 10607502
29 RP1L1 NM_178857.5(RP1L1): c.6545C> A (p.Ala2182Asp) single nucleotide variant Likely benign rs183570817 GRCh37 Chromosome 8, 10465063: 10465063
30 RP1L1 NM_178857.5(RP1L1): c.6545C> A (p.Ala2182Asp) single nucleotide variant Likely benign rs183570817 GRCh38 Chromosome 8, 10607553: 10607553
31 RP1L1 NM_178857.5(RP1L1): c.6380C> T (p.Pro2127Leu) single nucleotide variant Uncertain significance rs375714703 GRCh37 Chromosome 8, 10465228: 10465228
32 RP1L1 NM_178857.5(RP1L1): c.6380C> T (p.Pro2127Leu) single nucleotide variant Uncertain significance rs375714703 GRCh38 Chromosome 8, 10607718: 10607718
33 RP1L1 NM_178857.5(RP1L1): c.6159C> T (p.Asp2053=) single nucleotide variant Uncertain significance rs368139274 GRCh37 Chromosome 8, 10465449: 10465449
34 RP1L1 NM_178857.5(RP1L1): c.6159C> T (p.Asp2053=) single nucleotide variant Uncertain significance rs368139274 GRCh38 Chromosome 8, 10607939: 10607939
35 RP1L1 NM_178857.5(RP1L1): c.5821C> G (p.Gln1941Glu) single nucleotide variant Uncertain significance rs201017122 GRCh37 Chromosome 8, 10465787: 10465787
36 RP1L1 NM_178857.5(RP1L1): c.5821C> G (p.Gln1941Glu) single nucleotide variant Uncertain significance rs201017122 GRCh38 Chromosome 8, 10608277: 10608277
37 RP1L1 NM_178857.5(RP1L1): c.5713G> A (p.Gly1905Ser) single nucleotide variant Likely benign rs202121941 GRCh37 Chromosome 8, 10465895: 10465895
38 RP1L1 NM_178857.5(RP1L1): c.5713G> A (p.Gly1905Ser) single nucleotide variant Likely benign rs202121941 GRCh38 Chromosome 8, 10608385: 10608385
39 RP1L1 NM_178857.5(RP1L1): c.5618A> T (p.Asp1873Val) single nucleotide variant Likely benign rs200622636 GRCh37 Chromosome 8, 10465990: 10465990
40 RP1L1 NM_178857.5(RP1L1): c.5618A> T (p.Asp1873Val) single nucleotide variant Likely benign rs200622636 GRCh38 Chromosome 8, 10608480: 10608480
41 RP1L1 NM_178857.5(RP1L1): c.5600C> A (p.Ala1867Asp) single nucleotide variant Uncertain significance rs886062577 GRCh37 Chromosome 8, 10466008: 10466008
42 RP1L1 NM_178857.5(RP1L1): c.5600C> A (p.Ala1867Asp) single nucleotide variant Uncertain significance rs886062577 GRCh38 Chromosome 8, 10608498: 10608498
43 RP1L1 NM_178857.5(RP1L1): c.4906G> A (p.Glu1636Lys) single nucleotide variant Likely benign rs80094376 GRCh37 Chromosome 8, 10466702: 10466702
44 RP1L1 NM_178857.5(RP1L1): c.4906G> A (p.Glu1636Lys) single nucleotide variant Likely benign rs80094376 GRCh38 Chromosome 8, 10609192: 10609192
45 RP1L1 NM_178857.5(RP1L1): c.4837C> A (p.Leu1613Met) single nucleotide variant Likely benign rs181095314 GRCh37 Chromosome 8, 10466771: 10466771
46 RP1L1 NM_178857.5(RP1L1): c.4837C> A (p.Leu1613Met) single nucleotide variant Likely benign rs181095314 GRCh38 Chromosome 8, 10609261: 10609261
47 RP1L1 NM_178857.5(RP1L1): c.4831C> G (p.Arg1611Gly) single nucleotide variant Uncertain significance rs199604262 GRCh37 Chromosome 8, 10466777: 10466777
48 RP1L1 NM_178857.5(RP1L1): c.4831C> G (p.Arg1611Gly) single nucleotide variant Uncertain significance rs199604262 GRCh38 Chromosome 8, 10609267: 10609267
49 RP1L1 NM_178857.5(RP1L1): c.4795C> G (p.Leu1599Val) single nucleotide variant Uncertain significance rs201524117 GRCh37 Chromosome 8, 10466813: 10466813
50 RP1L1 NM_178857.5(RP1L1): c.4795C> G (p.Leu1599Val) single nucleotide variant Uncertain significance rs201524117 GRCh38 Chromosome 8, 10609303: 10609303

Expression for Occult Macular Dystrophy

Search GEO for disease gene expression data for Occult Macular Dystrophy.

Pathways for Occult Macular Dystrophy

GO Terms for Occult Macular Dystrophy

Cellular components related to Occult Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 8.62 ABCA4 RP1L1

Biological processes related to Occult Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron migration GO:0001764 9.16 DCX PCM1
2 photoreceptor cell maintenance GO:0045494 8.96 ABCA4 RP1L1
3 visual perception GO:0007601 8.8 ABCA4 CRYGB RP1L1

Sources for Occult Macular Dystrophy

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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