MCID: MLN046
MIFTS: 24

Melanoma-Associated Retinopathy

Categories: Eye diseases, Rare diseases, Skin diseases

Aliases & Classifications for Melanoma-Associated Retinopathy

MalaCards integrated aliases for Melanoma-Associated Retinopathy:

Name: Melanoma-Associated Retinopathy 20 70

Classifications:



External Ids:

UMLS 70 C0730308

Summaries for Melanoma-Associated Retinopathy

GARD : 20 Melanoma -associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer ) and can affect the vision. Signs and symptoms of MAR may include night blindness; photopsia (presence of perceived flashes of light); and progressive, painless vision loss. MAR occurs when the body's immune system, in response to melanoma, mistakenly attacks the cells of the retina ; however, it is poorly understood why this autoimmune response occurs in some people but not others. There is, unfortunately, no established treatment for MAR. Proposed strategies for treatment include immunosuppressive medications and/or standard treatment of the melanoma (i.e. surgery, chemotherapy, and/or radiation therapy ).

MalaCards based summary : Melanoma-Associated Retinopathy is related to night blindness and cancer-associated retinopathy. An important gene associated with Melanoma-Associated Retinopathy is TRPM1 (Transient Receptor Potential Cation Channel Subfamily M Member 1), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include retina and colon, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Melanoma-Associated Retinopathy

Diseases related to Melanoma-Associated Retinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 night blindness 30.2 TRPM1 SAG RHO
2 cancer-associated retinopathy 30.1 SAG RHO
3 congenital stationary night blindness 29.4 TRPM1 SAG RHO
4 autoimmune retinopathy 11.3
5 melanoma 10.7
6 yemenite deaf-blind hypopigmentation syndrome 10.6
7 skin melanoma 10.5
8 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
9 uveitis 10.2
10 autoimmune disease 10.1
11 melanoma, cutaneous malignant 1 10.0
12 retinal detachment 10.0
13 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0
14 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0
15 macular retinal edema 10.0
16 scotoma 10.0
17 neuroretinitis 10.0 TRPM1 SAG
18 abnormal threshold of rods 10.0 TRPM1 SAG
19 bardet-biedl syndrome 1 9.9
20 myasthenia gravis 9.9
21 angioid streaks 9.9
22 mucosal melanoma 9.9
23 retinal vasculitis 9.9
24 allergic disease 9.9
25 posterior uveitis 9.9
26 malignant conjunctival melanoma 9.9
27 neuritis 9.9
28 intestinal perforation 9.9
29 cataract 9.9
30 vasculitis 9.9
31 paraneoplastic syndromes 9.9
32 pineocytoma 9.8 SAG RHO
33 myasthenic syndrome, congenital, 3a, slow-channel 9.8 SAG RHO
34 retinoschisis 1, x-linked, juvenile 9.8 TRPM1 RHO
35 oguchi disease 9.8 SAG RHO
36 diabetes insipidus, nephrogenic, autosomal 9.8 SAG RHO
37 uveal disease 9.7 SAG RHO
38 fundus albipunctatus 9.7 SAG RHO
39 eye degenerative disease 9.7 SAG RHO
40 sensory system disease 9.6 SAG RHO
41 retinal disease 9.6 SAG RHO
42 cone dystrophy 9.5 SAG RHO
43 fundus dystrophy 9.4 TRPM1 SAG RHO

Graphical network of the top 20 diseases related to Melanoma-Associated Retinopathy:



Diseases related to Melanoma-Associated Retinopathy

Symptoms & Phenotypes for Melanoma-Associated Retinopathy

GenomeRNAi Phenotypes related to Melanoma-Associated Retinopathy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.23 ALDOA
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 9.23 TRPM1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 9.23 ALDOA
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.23 ALDOA
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-189 9.23 TRPM1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.23 TRPM1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.23 ALDOA
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.23 TRPM1

MGI Mouse Phenotypes related to Melanoma-Associated Retinopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.92 ALDOA RHO SAG TRPM1

Drugs & Therapeutics for Melanoma-Associated Retinopathy

Search Clinical Trials , NIH Clinical Center for Melanoma-Associated Retinopathy

Genetic Tests for Melanoma-Associated Retinopathy

Anatomical Context for Melanoma-Associated Retinopathy

MalaCards organs/tissues related to Melanoma-Associated Retinopathy:

40
Retina, Colon

Publications for Melanoma-Associated Retinopathy

Articles related to Melanoma-Associated Retinopathy:

(show top 50) (show all 131)
# Title Authors PMID Year
1
Melanoma-associated retinopathy during pembrolizumab treatment probably controlled by intravitreal injections of dexamethasone. 61
32975694 2021
2
Normalization of electroretinogram and symptom resolution of melanoma-associated retinopathy with negative autoantibodies after treatment with programmed death-1 (PD-1) inhibitors for metastatic melanoma. 61
33544215 2021
3
A case of melanoma-associated retinopathy with autoantibodies against TRPM1. 61
32472235 2020
4
Vogt-Koyanagi-Harada-like Uveitis Followed by Melanoma-Associated Retinopathy with Focal Chorioretinal Atrophy and Choroidal Neovascularization in a Patient with Metastatic Cutaneous Melanoma. 61
33394953 2020
5
Ocular Paraneoplastic Syndromes. 61
33182708 2020
6
Triple Therapy with Rituximab, IVIg and Intravitreal Corticosteroids for Melanoma-associated Retinopathy (MAR): TTRIIC does the trick. 61
33165302 2020
7
First case of melanoma-associated retinopathy with conjunctival melanoma. 61
32093922 2020
8
Melanoma-associated retinopathy. 61
31742740 2020
9
Melanoma-associated retinopathy: Photopsias as a first sign of melanoma progression? 61
31424094 2020
10
Correction: Identification and characterization of novel TRPM1 autoantibodies from serum of patients with melanoma-associated retinopathy. 61
32401781 2020
11
Identification and characterization of novel TRPM1 autoantibodies from serum of patients with melanoma-associated retinopathy. 61
32324760 2020
12
Current Techniques to Accurately Measure Anti-retinal Autoantibodies. 61
32318114 2020
13
CLINICAL COURSE OF PARANEOPLASTIC RETINOPATHY WITH ANTI-TRPM1 AUTOANTIBODY IN JAPANESE COHORT. 61
30260920 2019
14
BILATERAL VISUAL FIELD DEFECTS IN A PATIENT TREATED WITH THE MEK AND BRAF INHIBITORS TRAMETINIB AND DABRAFENIB FOR MELANOMA OF UNKNOWN ORIGIN. 61
29161237 2019
15
UVEITIS CAUSED BY TREATMENT FOR MALIGNANT MELANOMA: A CASE SERIES. 61
31274846 2019
16
CHOROIDAL NEOVASCULARIZATION AND CHORIORETINAL ATROPHY IN A PATIENT WITH MELANOMA-ASSOCIATED RETINOPATHY AFTER IPILIMUMAB/NIVOLUMAB COMBINATION THERAPY. 61
31246886 2019
17
Outcomes Associated With Sustained-Release Intraocular Fluocinolone Implants in a Case of Melanoma-Associated Retinopathy Treated Without Systemic Immunosuppression. 61
30896772 2019
18
TRPM1 Autoantibodies in Melanoma Patients Without Self-Reported Visual Symptoms. 61
31117125 2019
19
Metastatic Cutaneous Melanoma Presenting With Melanoma-Associated Retinopathy. 61
30893173 2019
20
Typical electronegative electroretinography and nyctalopia as a presenting feature of systemic malignant melanoma. 61
31496836 2019
21
Immunopathogenesis of ophthalmological paraneoplastic syndromes: Recent findings. 61
30289210 2018
22
[Paraneoplastic Syndromes in Ophthalmology (French version of the article)]. 61
29891101 2018
23
Is it melanoma-associated retinopathy or drug toxicity? Bilateral cystoid macular edema posing a diagnostic and therapeutic dilemma. 61
29780921 2018
24
ISCEV extended protocol for the photopic On-Off ERG. 61
29934802 2018
25
Paraneoplastic syndromes in ophthalmology. 61
29784239 2018
26
The diagnostic usefulness of the negative electroretinogram. 61
29198644 2018
27
Are Anti-Retinal Autoantibodies a Cause or a Consequence of Retinal Degeneration in Autoimmune Retinopathies? 61
29713325 2018
28
Melanoma-Associated Retinopathy 28 Years After Diagnosis. 61
28975251 2017
29
Autoantibodies in Melanoma-Associated Retinopathy Recognize an Epitope Conserved Between TRPM1 and TRPM3. 61
28549093 2017
30
Use for Vemurafenib in Metastatic Cutaneous Melanoma to the Choroid and Presumed Melanoma-Associated Retinopathy. 61
31047434 2017
31
Retinitis Pigmentosa and Other Dystrophies. 61
28351048 2017
32
Chorioretinal Lesions in a Case of Melanoma-Associated Retinopathy Treated With Pembrolizumab. 61
27540851 2016
33
Consensus on the Diagnosis and Management of Nonparaneoplastic Autoimmune Retinopathy Using a Modified Delphi Approach. 61
27210277 2016
34
Ocular and orbital side-effects of checkpoint inhibitors: a review article. 61
27136135 2016
35
Exudative Polymorphous Vitelliform Retinopathy: Importance of Early Recognition of the Condition in Patients with Metastatic Melanoma. 61
26892474 2016
36
[Melanoma associated retinopathy: A case report]. 61
26947326 2016
37
Autoimmunity in visual loss. 61
27112687 2016
38
Audiovestibular disorders as autoimmune reaction in patients with melanoma. 61
26115944 2015
39
Lesson of the month 1: Seeing snowflakes. 61
26407395 2015
40
Melanoma associated retinopathy: A new dimension using adaptive optics. 61
26622144 2015
41
Autoimmune retinopathy and antiretinal antibodies: a review. 61
24646664 2014
42
Diagnostic features of the autoimmune retinopathies. 61
24424196 2014
43
Autoantibodies to transient receptor potential cation channel, subfamily M, member 1 in a Japanese patient with melanoma-associated retinopathy. 61
24468869 2014
44
Diagnosis of occult melanoma using transient receptor potential melastatin 1 (TRPM1) autoantibody testing: a novel approach. 61
24053997 2013
45
Delayed presentation of melanoma-associated retinopathy and subsequent resolution with cytoreduction surgery. 61
23794161 2013
46
Paraneoplastic and non-paraneoplastic retinopathy and optic neuropathy: evaluation and management. 61
23969019 2013
47
Paraneoplastic vitelliform retinopathy following ciliochoroidal melanoma. 61
23676235 2013
48
SD-OCT and autofluorescence characteristics of autoimmune retinopathy. 61
23221966 2013
49
Serum TRPM1 autoantibodies from melanoma associated retinopathy patients enter retinal on-bipolar cells and attenuate the electroretinogram in mice. 61
23936334 2013
50
Melanoma-associated retinopathy treated with ipilimumab therapy. 61
24051549 2013

Variations for Melanoma-Associated Retinopathy

Expression for Melanoma-Associated Retinopathy

Search GEO for disease gene expression data for Melanoma-Associated Retinopathy.

Pathways for Melanoma-Associated Retinopathy

GO Terms for Melanoma-Associated Retinopathy

Cellular components related to Melanoma-Associated Retinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 8.96 SAG RHO
2 photoreceptor inner segment GO:0001917 8.62 SAG RHO

Biological processes related to Melanoma-Associated Retinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.26 TRPM1 RHO
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.16 SAG RHO
3 cellular response to light stimulus GO:0071482 8.96 TRPM1 RHO
4 rhodopsin mediated signaling pathway GO:0016056 8.62 SAG RHO

Sources for Melanoma-Associated Retinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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