MCID: ATM076
MIFTS: 29

Autoimmune Retinopathy

Categories: Rare diseases

Aliases & Classifications for Autoimmune Retinopathy

MalaCards integrated aliases for Autoimmune Retinopathy:

Name: Autoimmune Retinopathy 53

Classifications:



Summaries for Autoimmune Retinopathy

NIH Rare Diseases : 53 Autoimmune retinopathy represents a spectrum of rare autoimmune diseases that primarily affect retinal photoreceptor function and lead to progressive vision loss. Included in this spectrum are cancer-associated retinopathy (CAR), melanoma-associated retinopathy (MAR) and presumed non-paraneoplastic autoimmune retinopathy (npAIR). Autoimmune retinopathy typically presents in the fifth and sixth decades with rapidly progressive, bilateral, painless visual deterioration. Examination of the fundus (the back inner part of the eye) is usually normal at presentation. The underlying reason for the autoimmune attack on retinal cells remains unknown. Treatment includes systemic immunosuppression with steroid and steroid-sparing agents, intravenous immunoglobulin (IVIG), and plasmapheresis (plasma exchange). 

MalaCards based summary : Autoimmune Retinopathy is related to cancer-associated retinopathy and retinitis. An important gene associated with Autoimmune Retinopathy is ENO1 (Enolase 1), and among its related pathways/superpathways are Carbon metabolism and Deadenylation-dependent mRNA decay. The drugs rituximab and Antirheumatic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and b cells, and related phenotype is respiratory system.

Wikipedia : 76 Autoimmune retinopathy (AIR) is a rare disease in which the patient\'s immune system attacks proteins in... more...

Related Diseases for Autoimmune Retinopathy

Diseases in the Autoimmune Retinopathy family:

Ndp-Related Retinopathies

Diseases related to Autoimmune Retinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 cancer-associated retinopathy 28.9 ENO1 ENO2
2 retinitis 10.1
3 systemic lupus erythematosus 9.8
4 lupus erythematosus 9.8
5 immunodeficiency with hyper-igm, type 1 9.6
6 aging 9.6
7 macular degeneration, age-related, 1 9.6
8 dermatitis, atopic 9.6
9 colon adenoma 9.6
10 good syndrome 9.6
11 cytomegalovirus retinitis 9.6
12 choroiditis 9.6
13 uveitis 9.6
14 autoimmune polyendocrine syndrome 9.6
15 dermatitis 9.6
16 thymoma 9.6
17 adenoma 9.6
18 retinal degeneration 9.6
19 chickenpox 9.6
20 type i 9.6
21 anterior uveitis 9.6
22 cholangitis, primary sclerosing 9.6 AIRE ENO1
23 lymphocytic hypophysitis 9.5 ENO1 ENO2
24 brain injury 9.3 ENO1 ENO2
25 autoimmune disease 9.3 AIRE ENO1
26 retinal hemangioblastoma 9.3 CA2 ENO2

Graphical network of the top 20 diseases related to Autoimmune Retinopathy:



Diseases related to Autoimmune Retinopathy

Symptoms & Phenotypes for Autoimmune Retinopathy

MGI Mouse Phenotypes related to Autoimmune Retinopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.8 AIRE CA2 ENO2

Drugs & Therapeutics for Autoimmune Retinopathy

Drugs for Autoimmune Retinopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 1 174722-31-7 10201696
2 Antirheumatic Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rituximab for Autoimmune Retinopathy Completed NCT01086631 Phase 1 Rituximab

Search NIH Clinical Center for Autoimmune Retinopathy

Genetic Tests for Autoimmune Retinopathy

Anatomical Context for Autoimmune Retinopathy

MalaCards organs/tissues related to Autoimmune Retinopathy:

41
Eye, Retina, B Cells, Testes, Colon, Placenta

Publications for Autoimmune Retinopathy

Articles related to Autoimmune Retinopathy:

(show top 50) (show all 63)
# Title Authors Year
1
Autoimmune retinopathy: A Review. ( 29340169 )
2018
2
Autoimmune Retinopathy: An Immunologic Cellular-Driven Disorder. ( 29721944 )
2018
3
Papilloedema and Autoimmune Retinopathy from Systemic Lupus Erythematosus. ( 29563958 )
2018
4
Progress Toward Precisely Diagnosing Autoimmune Retinopathy. ( 29396036 )
2018
5
Elevated serum levels of IL-6 and CXCL9 in autoimmune retinopathy (AIR) patients. ( 29310941 )
2018
6
RECONSTITUTION OF THE ELLIPSOID ZONE WITH TOCILIZUMAB IN AUTOIMMUNE RETINOPATHY. ( 29952844 )
2018
7
The effect of autoimmune retinopathy on retinal vessel oxygen saturation. ( 29786086 )
2018
8
Antiretinal antibody- proven autoimmune retinopathy. ( 28574003 )
2017
9
Autoimmune retinopathy associated with systemic lupus erythematosus: A diagnostic dilemma. ( 29034159 )
2017
10
B Cell Anomalies in Autoimmune Retinopathy (AIR). ( 28715846 )
2017
11
Impact of Autoantibodies against Glycolytic Enzymes on Pathogenicity of Autoimmune Retinopathy and Other Autoimmune Disorders. ( 28503176 )
2017
12
Autoimmune Retinopathy: Current Concepts and Practices (An American Ophthalmological Society Thesis). ( 29576753 )
2017
13
Outcomes in Autoimmune Retinopathy Patients Treated With Rituximab. ( 28941647 )
2017
14
EFFECT OF PLASMAPHERESIS AND PASSAGE OF ANTI-RETINAL ANTIBODIES THROUGH THE PLACENTA IN A CASE OF NON-PARANEOPLASTIC AUTOIMMUNE RETINOPATHY. ( 28009774 )
2017
15
Outcomes in Autoimmune Retinopathy Patients Treated With Rituximab. ( 28483493 )
2017
16
AUTOIMMUNE RETINOPATHY IN A PATIENT WITH A MISSENSE MUTATION IN PITPNM3. ( 29176531 )
2017
17
Presumed autoimmune retinopathy following chickenpox; a case report. ( 28825165 )
2017
18
Autoimmune retinopathy: A case report from India. ( 28298865 )
2017
19
Efficacy of rituximab in non-paraneoplastic autoimmune retinopathy. ( 28709429 )
2017
20
Rituximab for the Treatment of Autoimmune Retinopathy. ( 28662767 )
2017
21
Rituximab as a monotherapy or in combination therapy for the treatment of non-paraneoplastic autoimmune retinopathy. ( 28255228 )
2017
22
Outcomes in Autoimmune Retinopathy Patients Treated With Rituximab. ( 28947061 )
2017
23
Non-Paraneoplastic Autoimmune Retinopathy: The First Case Report in Korea. ( 26847311 )
2016
24
GCAP1, Rab6, and HSP27: Novel Autoantibody Targets in Cancer-Associated Retinopathy and Autoimmune Retinopathy. ( 27152249 )
2016
25
Choroidal Thickness and En Face Optical Coherence Tomography Imaging in Autoimmune Retinopathy. ( 27065377 )
2016
26
Consensus on the Diagnosis and Management of Nonparaneoplastic Autoimmune Retinopathy Using a Modified Delphi Approach. ( 27566926 )
2016
27
Consensus on the Diagnosis and Management of Nonparaneoplastic Autoimmune Retinopathy using a Modified Delphi Approach. ( 27210277 )
2016
28
Serum Autoantibody Profiling of Patients with Paraneoplastic and Non-Paraneoplastic Autoimmune Retinopathy. ( 27930731 )
2016
29
Unique epitopes for carbonic anhydrase II autoantibodies related to autoimmune retinopathy and cancer-associated retinopathy. ( 27185162 )
2016
30
Consensus on the Diagnosis and Management of Nonparaneoplastic Autoimmune Retinopathy Using a Modified Delphi Approach. ( 27544042 )
2016
31
Phage Immunoprecipitation Sequencing of Autoantigens in Autoimmune Retinopathy. ( 27726466 )
2016
32
Assessment of Retinal Structural and Functional Characteristics in Eyes with Autoimmune Retinopathy. ( 26238366 )
2015
33
The enigma of autoimmune retinopathy. ( 25730621 )
2015
34
Remission of nonparaneoplastic autoimmune retinopathy after minimal steroid treatment. ( 25764315 )
2015
35
Rituximab treatment for nonparaneoplastic autoimmune retinopathy. ( 26651312 )
2015
36
Autoimmune retinopathy associated with carcinoid tumour of the small bowel. ( 24126040 )
2014
37
Unilateral manifestation of autoimmune retinopathy. ( 25103665 )
2014
38
Autoimmune retinopathy. ( 24315290 )
2014
39
Localized retinal manifestations of paraneoplastic autoimmune retinopathy. ( 25372537 )
2014
40
Autoimmune retinopathy and antiretinal antibodies: a review. ( 24646664 )
2014
41
SD-OCT and autofluorescence characteristics of autoimmune retinopathy. ( 23221966 )
2013
42
Autoimmune retinopathy. ( 24100366 )
2013
43
Detection of autoantibodies against heat shock proteins and collapsin response mediator proteins in autoimmune retinopathy. ( 24066722 )
2013
44
Autoimmune retinopathy in benign thymoma after good syndrome-associated cytomegalovirus retinitis. ( 23323587 )
2013
45
Concordance of antiretinal antibody testing results between laboratories in autoimmune retinopathy. ( 23307224 )
2013
46
Autoimmune retinopathy in a patient with autoimmune polyendocrine syndrome type I. ( 23697860 )
2013
47
Nonparaneoplastic autoimmune retinopathy presenting with peripheral retinal vasoocclusion: case report. ( 25390519 )
2013
48
Autoimmune retinopathy associated with colonic adenoma. ( 22886094 )
2013
49
Severe atopic dermatitis accompanied by autoimmune retinopathy. ( 23588139 )
2013
50
Optical coherence tomography findings in autoimmune retinopathy. ( 22245461 )
2012

Variations for Autoimmune Retinopathy

Expression for Autoimmune Retinopathy

Search GEO for disease gene expression data for Autoimmune Retinopathy.

Pathways for Autoimmune Retinopathy

Pathways related to Autoimmune Retinopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.58 ENO1 ENO2
2
Show member pathways
11.44 ENO1 ENO2
3 11.29 CA2 ENO1 ENO2
4 10.96 ENO1 ENO2

GO Terms for Autoimmune Retinopathy

Cellular components related to Autoimmune Retinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myelin sheath GO:0043209 8.96 CA2 ENO2
2 phosphopyruvate hydratase complex GO:0000015 8.62 ENO1 ENO2

Biological processes related to Autoimmune Retinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gluconeogenesis GO:0006094 9.16 ENO1 ENO2
2 glycolytic process GO:0006096 8.96 ENO1 ENO2
3 canonical glycolysis GO:0061621 8.62 ENO1 ENO2

Molecular functions related to Autoimmune Retinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.56 AIRE CA2 ENO1 ENO2
2 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.32 AIRE ENO1
3 magnesium ion binding GO:0000287 9.16 ENO1 ENO2
4 lyase activity GO:0016829 9.13 CA2 ENO1 ENO2
5 phosphopyruvate hydratase activity GO:0004634 8.62 ENO1 ENO2

Sources for Autoimmune Retinopathy

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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