OCMD
MCID: OCC002
MIFTS: 34

Occult Macular Dystrophy (OCMD)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Occult Macular Dystrophy

MalaCards integrated aliases for Occult Macular Dystrophy:

Name: Occult Macular Dystrophy 58 12 60 76 38 30 13 6 15 41 74
Ocmd 58 60 76
Omd 58 60 76

Characteristics:

Orphanet epidemiological data:

60
occult macular dystrophy
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

58
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:

33
occult macular dystrophy:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050578
OMIM 58 613587
KEGG 38 H01010
MeSH 45 D008268
ICD10 via Orphanet 35 H35.5
Orphanet 60 ORPHA247834
MedGen 43 C3150833
SNOMED-CT via HPO 70 263681008
UMLS 74 C3150833

Summaries for Occult Macular Dystrophy

OMIM : 58 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 lymphatic malformation 5 and hallermann-streiff syndrome. An important gene associated with Occult Macular Dystrophy is RP1L1 (RP1 Like 1). Affiliated tissues include retina, eye and kidney, and related phenotypes are macular dystrophy and slow decrease in visual acuity

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 : 76 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.

Wikipedia : 77 Occult macular dystrophy (OMD) is a rare inherited degradation of the retina, characterized by... more...

Related Diseases for Occult Macular Dystrophy

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 lymphatic malformation 5 11.2
2 hallermann-streiff syndrome 11.1
3 aromatic l-amino acid decarboxylase deficiency 11.1
4 polycystic kidney disease 10.2
5 aneurysmal bone cysts 10.2
6 retinitis pigmentosa 1 10.0 DCX RP1L1
7 prolonged electroretinal response suppression 10.0 ABCA4 KCNV2
8 retinal detachment 9.9
9 retinitis pigmentosa 9.9
10 leber congenital amaurosis 4 9.9
11 stargardt disease 9.9
12 low tension glaucoma 9.9
13 retinitis 9.9
14 retinal disease 9.9
15 autosomal genetic disease 9.8 ABCA4 ATXN1

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



Diseases related to Occult Macular Dystrophy

Symptoms & Phenotypes for Occult Macular Dystrophy

Human phenotypes related to Occult Macular Dystrophy:

33
# Description HPO Frequency HPO Source Accession
1 macular dystrophy 33 hallmark (90%) HP:0007754
2 slow decrease in visual acuity 33 HP:0007924
3 abnormal multifocal electroretinogram 33 HP:0030468

Symptoms via clinical synopsis from OMIM:

58
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

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 30 RP1L1

Anatomical Context for Occult Macular Dystrophy

MalaCards organs/tissues related to Occult Macular Dystrophy:

42
Retina, Eye, Kidney, Bone

Publications for Occult Macular Dystrophy

Articles related to Occult Macular Dystrophy:

(show all 46)
# Title Authors Year
1
CLINICAL FEATURES IN A CASE OF OCCULT MACULAR DYSTROPHY WITH RP1L1 MUTATION. ( 28195981 )
2019
2
Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake disease); EAOMD Report No.1. ( 31028767 )
2019
3
Occult Macular Dystrophy. ( 30578492 )
2018
4
OCCULT MACULAR DYSTROPHY WITH MUTATIONS IN THE RP1L1 AND KCNV2 GENES. ( 27579568 )
2017
5
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
6
Structure-functional correlation using adaptive optics, OCT, and microperimetry in a case of occult macular dystrophy. ( 28591286 )
2017
7
Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family. ( 28890726 )
2017
8
Parafoveal Photoreceptor Abnormalities in Asymptomatic Patients With RP1L1 Mutations in Families With Occult Macular Dystrophy. ( 29196766 )
2017
9
Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene. ( 26782618 )
2016
10
Structural and functional evaluation of macula in a 9-year-old boy with occult macular dystrophy and his affected elder sibling. ( 27013831 )
2016
11
Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy. ( 27623337 )
2016
12
Occult Macular Dystrophy. ( 27800268 )
2016
13
Occult macular dystrophy. ( 25665791 )
2015
14
Pathologic Changes of Cone Photoreceptors in Eyes With Occult Macular Dystrophy. ( 26544792 )
2015
15
Multimodal imaging and multifocal electroretinography demonstrate autosomal recessive Stargardt disease may present like occult macular dystrophy. ( 24743636 )
2014
16
Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P). ( 24838559 )
2014
17
RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy. ( 23281133 )
2013
18
Elderly case of pseudo-unilateral occult macular dystrophy with Arg45Trp mutation in RP1L1 gene. ( 23619761 )
2013
19
Analysis of macular cone photoreceptors in a case of occult macular dystrophy. ( 23696695 )
2013
20
Clinical and genetic characteristics of Korean occult macular dystrophy patients. ( 23745001 )
2013
21
Multimodal imaging of occult macular dystrophy. ( 24010148 )
2013
22
Microperimetry in a case of occult macular dystrophy. ( 24093195 )
2013
23
Clinical characteristics of occult macular dystrophy in family with mutation of RP1l1 gene. ( 22466457 )
2012
24
Autosomal dominant occult macular dystrophy with an RP1L1 mutation (R45W). ( 22504327 )
2012
25
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
26
Characterizing the phenotype and genotype of a family with occult macular dystrophy. ( 23229695 )
2012
27
Analysis of spectral domain optical coherence tomography findings in occult macular dystrophy. ( 20560888 )
2011
28
Detection of photoreceptor disruption by adaptive optics fundus imaging and Fourier-domain optical coherence tomography in eyes with occult macular dystrophy. ( 21468344 )
2011
29
Fundus autofluorescence in autosomal dominant occult macular dystrophy. ( 21555613 )
2011
30
Morphologic photoreceptor abnormality in occult macular dystrophy on spectral-domain optical coherence tomography. ( 20164460 )
2010
31
Loss of Foveal Cone Photoreceptor Outer Segments in Occult Macular Dystrophy. ( 20337322 )
2010
32
Dominant mutations in RP1L1 are responsible for occult macular dystrophy. ( 20826268 )
2010
33
Pattern-reversal visual-evoked potential in patients with occult macular dystrophy. ( 21191449 )
2010
34
Spectral domain optical coherence tomographic findings of occult macular dystrophy. ( 19320307 )
2009
35
Fundus autofluorescence in a case of occult macular dystrophy. ( 20108567 )
2009
36
A 43-year-old man with reduced visual acuity and normal fundus: occult macular dystrophy--case report. ( 17955274 )
2008
37
Optical coherence tomography findings in occult macular dystrophy. ( 17317401 )
2007
38
Abnormalities of visual-evoked potentials and pupillary light reflexes in a family with autosomal dominant occult macular dystrophy. ( 17997791 )
2007
39
Non-familial occult macular dystrophy. ( 16502307 )
2005
40
Occult macular dystrophy in an 11 year old boy. ( 15548825 )
2004
41
Multifocal electroretinogram (mfERG) in a family with occult macular dystrophy (OMD). ( 12664360 )
2003
42
A case of occult macular dystrophy accompanying normal-tension glaucoma. ( 12719086 )
2003
43
Foveal thickness in occult macular dystrophy. ( 12719092 )
2003
44
Multifocal electroretinogram in occult macular dystrophy. ( 10670483 )
2000
45
Multifocal electroretinography in patients with occult macular dystrophy. ( 10636668 )
1999
46
Occult macular dystrophy. ( 8909203 )
1996

Variations for Occult Macular Dystrophy

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

76
# 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 533)
# 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.4577C> T (p.Thr1526Met) single nucleotide variant Uncertain significance rs267601688 GRCh37 Chromosome 8, 10467031: 10467031
6 RP1L1 NM_178857.5(RP1L1): c.4577C> T (p.Thr1526Met) single nucleotide variant Uncertain significance rs267601688 GRCh38 Chromosome 8, 10609521: 10609521
7 RP1L1 NM_178857.5(RP1L1): c.4577C> T (p.Thr1526Met) single nucleotide variant Uncertain significance rs267601688 NCBI36 Chromosome 8, 10504441: 10504441
8 RP1L1 NM_178857.5(RP1L1): c.652G> T (p.Val218Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs77679870 GRCh37 Chromosome 8, 10474055: 10474055
9 RP1L1 NM_178857.5(RP1L1): c.652G> T (p.Val218Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs77679870 GRCh38 Chromosome 8, 10616545: 10616545
10 RP1L1 NM_178857.5(RP1L1): c.899C> T (p.Ser300Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200642524 GRCh37 Chromosome 8, 10470709: 10470709
11 RP1L1 NM_178857.5(RP1L1): c.899C> T (p.Ser300Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200642524 GRCh38 Chromosome 8, 10613199: 10613199
12 RP1L1 NM_178857.5(RP1L1): c.4273G> C (p.Asp1425His) single nucleotide variant Likely benign rs201205913 GRCh37 Chromosome 8, 10467335: 10467335
13 RP1L1 NM_178857.5(RP1L1): c.4273G> C (p.Asp1425His) single nucleotide variant Likely benign rs201205913 GRCh38 Chromosome 8, 10609825: 10609825
14 RP1L1 NM_178857.5(RP1L1): c.6063delC (p.Asp2021Glufs) deletion Uncertain significance rs572305644 GRCh38 Chromosome 8, 10608035: 10608035
15 RP1L1 NM_178857.5(RP1L1): c.6063delC (p.Asp2021Glufs) deletion Uncertain significance rs572305644 GRCh37 Chromosome 8, 10465545: 10465545
16 RP1L1 NM_178857.5(RP1L1): c.3956_3957insAAGAAGAGAG (p.Val1320Argfs) insertion Uncertain significance rs773894295 GRCh37 Chromosome 8, 10467651: 10467652
17 RP1L1 NM_178857.5(RP1L1): c.3956_3957insAAGAAGAGAG (p.Val1320Argfs) insertion Uncertain significance rs773894295 GRCh38 Chromosome 8, 10610141: 10610142
18 RP1L1 NM_178857.5(RP1L1): c.324_325insT (p.Pro109Serfs) insertion Conflicting interpretations of pathogenicity rs138816053 GRCh38 Chromosome 8, 10622877: 10622878
19 RP1L1 NM_178857.5(RP1L1): c.324_325insT (p.Pro109Serfs) insertion Conflicting interpretations of pathogenicity rs138816053 GRCh37 Chromosome 8, 10480387: 10480388
20 RP1L1 NM_178857.5(RP1L1): c.*335T> G single nucleotide variant Benign rs58309857 GRCh38 Chromosome 8, 10606560: 10606560
21 RP1L1 NM_178857.5(RP1L1): c.*335T> G single nucleotide variant Benign rs58309857 GRCh37 Chromosome 8, 10464070: 10464070
22 RP1L1 NM_178857.5(RP1L1): c.*307T> C single nucleotide variant Likely benign rs146542491 GRCh38 Chromosome 8, 10606588: 10606588
23 RP1L1 NM_178857.5(RP1L1): c.*307T> C single nucleotide variant Likely benign rs146542491 GRCh37 Chromosome 8, 10464098: 10464098
24 RP1L1 NM_178857.5(RP1L1): c.*265G> T single nucleotide variant Uncertain significance rs567494148 GRCh38 Chromosome 8, 10606630: 10606630
25 RP1L1 NM_178857.5(RP1L1): c.*265G> T single nucleotide variant Uncertain significance rs567494148 GRCh37 Chromosome 8, 10464140: 10464140
26 RP1L1 NM_178857.5(RP1L1): c.*27delG deletion Benign rs143284016 GRCh38 Chromosome 8, 10606868: 10606868
27 RP1L1 NM_178857.5(RP1L1): c.*27delG deletion Benign rs143284016 GRCh37 Chromosome 8, 10464378: 10464378
28 RP1L1 NM_178857.5(RP1L1): c.7047T> C (p.Thr2349=) single nucleotide variant Conflicting interpretations of pathogenicity rs202213014 GRCh38 Chromosome 8, 10607051: 10607051
29 RP1L1 NM_178857.5(RP1L1): c.7047T> C (p.Thr2349=) single nucleotide variant Conflicting interpretations of pathogenicity rs202213014 GRCh37 Chromosome 8, 10464561: 10464561
30 RP1L1 NM_178857.5(RP1L1): c.6718G> C (p.Glu2240Gln) single nucleotide variant Benign rs80000074 GRCh37 Chromosome 8, 10464890: 10464890
31 RP1L1 NM_178857.5(RP1L1): c.6718G> C (p.Glu2240Gln) single nucleotide variant Benign rs80000074 GRCh38 Chromosome 8, 10607380: 10607380
32 RP1L1 NM_178857.5(RP1L1): c.6644C> T (p.Pro2215Leu) single nucleotide variant Likely benign rs187850525 GRCh37 Chromosome 8, 10464964: 10464964
33 RP1L1 NM_178857.5(RP1L1): c.6644C> T (p.Pro2215Leu) single nucleotide variant Likely benign rs187850525 GRCh38 Chromosome 8, 10607454: 10607454
34 RP1L1 NM_178857.5(RP1L1): c.6603A> T (p.Ala2201=) single nucleotide variant Uncertain significance rs886062574 GRCh37 Chromosome 8, 10465005: 10465005
35 RP1L1 NM_178857.5(RP1L1): c.6603A> T (p.Ala2201=) single nucleotide variant Uncertain significance rs886062574 GRCh38 Chromosome 8, 10607495: 10607495
36 RP1L1 NM_178857.5(RP1L1): c.6596C> T (p.Pro2199Leu) single nucleotide variant Benign rs75797924 GRCh37 Chromosome 8, 10465012: 10465012
37 RP1L1 NM_178857.5(RP1L1): c.6596C> T (p.Pro2199Leu) single nucleotide variant Benign rs75797924 GRCh38 Chromosome 8, 10607502: 10607502
38 RP1L1 NM_178857.5(RP1L1): c.6545C> A (p.Ala2182Asp) single nucleotide variant Likely benign rs183570817 GRCh37 Chromosome 8, 10465063: 10465063
39 RP1L1 NM_178857.5(RP1L1): c.6545C> A (p.Ala2182Asp) single nucleotide variant Likely benign rs183570817 GRCh38 Chromosome 8, 10607553: 10607553
40 RP1L1 NM_178857.5(RP1L1): c.6380C> T (p.Pro2127Leu) single nucleotide variant Uncertain significance rs375714703 GRCh37 Chromosome 8, 10465228: 10465228
41 RP1L1 NM_178857.5(RP1L1): c.6380C> T (p.Pro2127Leu) single nucleotide variant Uncertain significance rs375714703 GRCh38 Chromosome 8, 10607718: 10607718
42 RP1L1 NM_178857.5(RP1L1): c.6159C> T (p.Asp2053=) single nucleotide variant Uncertain significance rs368139274 GRCh37 Chromosome 8, 10465449: 10465449
43 RP1L1 NM_178857.5(RP1L1): c.6159C> T (p.Asp2053=) single nucleotide variant Uncertain significance rs368139274 GRCh38 Chromosome 8, 10607939: 10607939
44 RP1L1 NM_178857.5(RP1L1): c.5821C> G (p.Gln1941Glu) single nucleotide variant Uncertain significance rs201017122 GRCh38 Chromosome 8, 10608277: 10608277
45 RP1L1 NM_178857.5(RP1L1): c.5821C> G (p.Gln1941Glu) single nucleotide variant Uncertain significance rs201017122 GRCh37 Chromosome 8, 10465787: 10465787
46 RP1L1 NM_178857.5(RP1L1): c.5713G> A (p.Gly1905Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs202121941 GRCh38 Chromosome 8, 10608385: 10608385
47 RP1L1 NM_178857.5(RP1L1): c.5713G> A (p.Gly1905Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs202121941 GRCh37 Chromosome 8, 10465895: 10465895
48 RP1L1 NM_178857.5(RP1L1): c.5618A> T (p.Asp1873Val) single nucleotide variant Likely benign rs200622636 GRCh38 Chromosome 8, 10608480: 10608480
49 RP1L1 NM_178857.5(RP1L1): c.5618A> T (p.Asp1873Val) single nucleotide variant Likely benign rs200622636 GRCh37 Chromosome 8, 10465990: 10465990
50 RP1L1 NM_178857.5(RP1L1): c.5600C> A (p.Ala1867Asp) single nucleotide variant Uncertain significance rs886062577 GRCh38 Chromosome 8, 10608498: 10608498

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 retina development in camera-type eye GO:0060041 9.37 DCX RP1L1
2 visual perception GO:0007601 9.33 ABCA4 CRYGB RP1L1
3 social behavior GO:0035176 9.32 ATXN1 PCM1
4 photoreceptor cell maintenance GO:0045494 9.26 ABCA4 RP1L1
5 axoneme assembly GO:0035082 8.96 DCX RP1L1
6 photoreceptor cell development GO:0042461 8.62 DCX RP1L1

Sources for Occult Macular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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