MCID: ATM076
MIFTS: 32

Autoimmune Retinopathy

Categories: Cancer diseases, Eye diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Autoimmune Retinopathy

MalaCards integrated aliases for Autoimmune Retinopathy:

Name: Autoimmune Retinopathy 54

Classifications:



Summaries for Autoimmune Retinopathy

NIH Rare Diseases : 54 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 systemic lupus erythematosus. 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 Antineoplastic Agents, Immunological have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and testes, and related phenotype is respiratory system.

Wikipedia : 77 Autoimmune retinopathy (AIR) is a rare disease in which the patient''s immune system attacks proteins in... more...

Related Diseases for Autoimmune Retinopathy

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:

47
# 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 Antineoplastic Agents, Immunological Phase 1
3 Immunologic Factors Phase 1
4 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:

42
Eye, Retina, Testes, Colon, Thyroid, B Cells, Placenta

Publications for Autoimmune Retinopathy

Articles related to Autoimmune Retinopathy:

(show top 50) (show all 82)
# Title Authors Year
1
Immune Cell Infiltration into the Eye Is Controlled by IL-10 in Recoverin-Induced Autoimmune Retinopathy. ( 30635390 )
2019
2
Non-paraneoplastic autoimmune retinopathy: multimodal testing characteristics of 13 cases. ( 30806850 )
2019
3
Autoimmune retinopathy: A Review. ( 29340169 )
2018
4
Autoimmune Retinopathy: An Immunologic Cellular-Driven Disorder. ( 29721944 )
2018
5
Papilloedema and Autoimmune Retinopathy from Systemic Lupus Erythematosus. ( 29563958 )
2018
6
Progress Toward Precisely Diagnosing Autoimmune Retinopathy. ( 29396036 )
2018
7
Elevated serum levels of IL-6 and CXCL9 in autoimmune retinopathy (AIR) patients. ( 29310941 )
2018
8
RECONSTITUTION OF THE ELLIPSOID ZONE WITH TOCILIZUMAB IN AUTOIMMUNE RETINOPATHY. ( 29952844 )
2018
9
The effect of autoimmune retinopathy on retinal vessel oxygen saturation. ( 29786086 )
2018
10
The role of cystoid macular edema as a marker in the progression of non-paraneoplastic autoimmune retinopathy. ( 30128606 )
2018
11
Clinical Features of Japanese Patients With Anti-α-enolase Antibody-Positive Autoimmune Retinopathy: Novel Subtype of Multiple Drusen. ( 30195891 )
2018
12
Autoimmune retinopathy and optic neuropathy associated with enolase-positive renal oncocytoma. ( 30229140 )
2018
13
T Helper 1 Cellular Immunity Toward Recoverin Is Enhanced in Patients With Active Autoimmune Retinopathy. ( 30271775 )
2018
14
Autoimmune Retinopathy. ( 30578520 )
2018
15
Antiretinal antibody- proven autoimmune retinopathy. ( 28574003 )
2017
16
Autoimmune retinopathy associated with systemic lupus erythematosus: A diagnostic dilemma. ( 29034159 )
2017
17
B Cell Anomalies in Autoimmune Retinopathy (AIR). ( 28715846 )
2017
18
Impact of Autoantibodies against Glycolytic Enzymes on Pathogenicity of Autoimmune Retinopathy and Other Autoimmune Disorders. ( 28503176 )
2017
19
Autoimmune Retinopathy: Current Concepts and Practices (An American Ophthalmological Society Thesis). ( 29576753 )
2017
20
Outcomes in Autoimmune Retinopathy Patients Treated With Rituximab. ( 28941647 )
2017
21
EFFECT OF PLASMAPHERESIS AND PASSAGE OF ANTI-RETINAL ANTIBODIES THROUGH THE PLACENTA IN A CASE OF NON-PARANEOPLASTIC AUTOIMMUNE RETINOPATHY. ( 28009774 )
2017
22
Outcomes in Autoimmune Retinopathy Patients Treated With Rituximab. ( 28483493 )
2017
23
AUTOIMMUNE RETINOPATHY IN A PATIENT WITH A MISSENSE MUTATION IN PITPNM3. ( 29176531 )
2017
24
Presumed autoimmune retinopathy following chickenpox; a case report. ( 28825165 )
2017
25
Autoimmune retinopathy: A case report from India. ( 28298865 )
2017
26
Efficacy of rituximab in non-paraneoplastic autoimmune retinopathy. ( 28709429 )
2017
27
Rituximab for the Treatment of Autoimmune Retinopathy. ( 28662767 )
2017
28
Rituximab as a monotherapy or in combination therapy for the treatment of non-paraneoplastic autoimmune retinopathy. ( 28255228 )
2017
29
Outcomes in Autoimmune Retinopathy Patients Treated With Rituximab. ( 28947061 )
2017
30
Non-Paraneoplastic Autoimmune Retinopathy: The First Case Report in Korea. ( 26847311 )
2016
31
GCAP1, Rab6, and HSP27: Novel Autoantibody Targets in Cancer-Associated Retinopathy and Autoimmune Retinopathy. ( 27152249 )
2016
32
Choroidal Thickness and En Face Optical Coherence Tomography Imaging in Autoimmune Retinopathy. ( 27065377 )
2016
33
Consensus on the Diagnosis and Management of Nonparaneoplastic Autoimmune Retinopathy Using a Modified Delphi Approach. ( 27566926 )
2016
34
Consensus on the Diagnosis and Management of Nonparaneoplastic Autoimmune Retinopathy using a Modified Delphi Approach. ( 27210277 )
2016
35
Serum Autoantibody Profiling of Patients with Paraneoplastic and Non-Paraneoplastic Autoimmune Retinopathy. ( 27930731 )
2016
36
Unique epitopes for carbonic anhydrase II autoantibodies related to autoimmune retinopathy and cancer-associated retinopathy. ( 27185162 )
2016
37
Consensus on the Diagnosis and Management of Nonparaneoplastic Autoimmune Retinopathy Using a Modified Delphi Approach. ( 27544042 )
2016
38
Phage Immunoprecipitation Sequencing of Autoantigens in Autoimmune Retinopathy. ( 27726466 )
2016
39
Electroretinographic improvement after rituximab therapy in a patient with autoimmune retinopathy. ( 29503888 )
2016
40
Assessment of Retinal Structural and Functional Characteristics in Eyes with Autoimmune Retinopathy. ( 26238366 )
2015
41
The enigma of autoimmune retinopathy. ( 25730621 )
2015
42
Remission of nonparaneoplastic autoimmune retinopathy after minimal steroid treatment. ( 25764315 )
2015
43
Rituximab treatment for nonparaneoplastic autoimmune retinopathy. ( 26651312 )
2015
44
Autoimmune retinopathy associated with carcinoid tumour of the small bowel. ( 24126040 )
2014
45
Unilateral manifestation of autoimmune retinopathy. ( 25103665 )
2014
46
Autoimmune retinopathy. ( 24315290 )
2014
47
Localized retinal manifestations of paraneoplastic autoimmune retinopathy. ( 25372537 )
2014
48
Autoimmune retinopathy and antiretinal antibodies: a review. ( 24646664 )
2014
49
SD-OCT and autofluorescence characteristics of autoimmune retinopathy. ( 23221966 )
2013
50
Autoimmune retinopathy. ( 24100366 )
2013

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 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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