MCID: ATM076
MIFTS: 27

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 20

Classifications:



Summaries for Autoimmune Retinopathy

GARD : 20 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 autoimmune disease. An important gene associated with Autoimmune Retinopathy is CA2 (Carbonic Anhydrase 2), and among its related pathways/superpathways are Deadenylation-dependent mRNA decay and Glucose / Energy Metabolism. The drugs rituximab and Antineoplastic Agents, Immunological have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and skin.

Wikipedia : 73 Autoimmune retinopathy (AIR) is a rare disease in which the patient's immune system attacks proteins in... more...

Related Diseases for Autoimmune Retinopathy

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

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 cancer-associated retinopathy 30.6 ENO2 ENO1
2 autoimmune disease 29.3 ENO1 CD40LG AIRE
3 retinal degeneration 10.4
4 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
5 neuroretinitis 10.2
6 retinitis 10.2
7 retinitis pigmentosa 10.2
8 retinal disease 10.2
9 melanoma-associated retinopathy 10.2
10 uveitis 10.1
11 macular retinal edema 10.1
12 night blindness 10.1
13 systemic lupus erythematosus 10.0
14 optic nerve disease 10.0
15 eye disease 10.0
16 lupus erythematosus 10.0
17 scotoma 10.0
18 autoimmune pancreatitis 10.0 ENO1 CA2
19 lymphocytic hypophysitis 10.0 ENO2 ENO1
20 skin granular cell tumor 10.0 ENO2 ENO1
21 yemenite deaf-blind hypopigmentation syndrome 9.9
22 neuropathy 9.9
23 skin melanoma 9.9
24 acute zonal occult outer retinopathy 9.9
25 osteopetrosis, autosomal recessive 5 9.8 CD40LG CA2
26 cholangitis, primary sclerosing 9.8 ENO1 AIRE
27 cryoglobulinemia, familial mixed 9.8 ENO1 CD40LG
28 myasthenia gravis 9.8
29 myeloma, multiple 9.8
30 thymoma, familial 9.8
31 immunodeficiency with hyper-igm, type 1 9.8
32 oncocytoma 9.8
33 macular degeneration, age-related, 1 9.8
34 dermatitis, atopic 9.8
35 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
36 ifap syndrome 2 9.8
37 cd40 ligand deficiency 9.8
38 good syndrome 9.8
39 cytomegalovirus retinitis 9.8
40 leber plus disease 9.8
41 sensorineural hearing loss 9.8
42 common cold 9.8
43 allergic disease 9.8
44 toxic optic neuropathy 9.8
45 autoimmune polyendocrine syndrome 9.8
46 hypothyroidism 9.8
47 dermatitis 9.8
48 thymoma 9.8
49 systemic scleroderma 9.8
50 peripheral nervous system disease 9.8

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



Diseases related to Autoimmune Retinopathy

Symptoms & Phenotypes for Autoimmune Retinopathy

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 Antirheumatic Agents Phase 1
4 Immunologic Factors 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:

40
Eye, Retina, Skin, Uterus, Placenta, Thyroid

Publications for Autoimmune Retinopathy

Articles related to Autoimmune Retinopathy:

(show top 50) (show all 135)
# Title Authors PMID Year
1
Unilaterally extinguished electroretinograms in an eye with normal visual acuity and visual field. 61
32588162 2021
2
Using bioinformatic protein sequence similarity to investigate if SARS CoV-2 infection could cause an ocular autoimmune inflammatory reactions? 61
33400927 2021
3
Asymmetric presentation and fundus autofluorescence findings in non-paraneoplastic autoimmune retinopathy. 61
32828722 2021
4
Rituximab for autoimmune retinopathy: Results of a Phase I/II clinical trial. 61
33767957 2021
5
Changes in choroidal imaging parameters following adalimumab therapy for refractory noninfectious uveitis. 61
33415356 2021
6
Autoimmune retinopathy: findings and limitations from optical coherence tomography angiography. 61
33292781 2020
7
An update on autoimmune retinopathy. 61
32823399 2020
8
Combination Treatment with Rituximab and Bortezomib in a Patient with Non-Paraneoplastic Autoimmune Retinopathy. 61
31418623 2020
9
Correlation of Immunological Markers with Disease and Clinical Outcome Measures in Patients with Autoimmune Retinopathy. 61
32832222 2020
10
Non-paraneoplastic autoimmune retinopathy that developed in fellow eye 10 years after onset in first eye: a case report. 61
32252709 2020
11
Intravenous Immunoglobulin for Management of Non-paraneoplastic Autoimmune Retinopathy. 61
32308960 2020
12
Autoimmune retinopathy associated with monoclonal gammopathy of undetermined significance: a case report. 61
32299429 2020
13
Linezolid-induced photoreceptor dysfunction masquerading as autoimmune retinopathy. 61
31587118 2020
14
Single-Cell RNA Sequencing in Human Retinal Degeneration Reveals Distinct Glial Cell Populations. 61
32069977 2020
15
RECONSTITUTION OF THE ELLIPSOID ZONE WITH TOCILIZUMAB IN AUTOIMMUNE RETINOPATHY. 61
29952844 2020
16
Occurrence of major anti-retinal autoantibodies associated with paraneoplastic autoimmune retinopathy. 61
31770612 2020
17
Current Techniques to Accurately Measure Anti-retinal Autoantibodies. 61
32318114 2020
18
AUTOIMMUNE RETINOPATHY MIMICKING HERITABLE RETINAL DEGENERATION IN A PATIENT WITH COMMON VARIABLE IMMUNE DEFICIENCY. 61
31764884 2019
19
Lack of Correlation between Number of Antiretinal Antibodies and Clinical Outcome Measures in Autoimmune Retinopathy Patients. 61
31420299 2019
20
Autoimmune retinopathy with positive anti-recoverin antibodies not associated with neoplasms: Case report. 61
31470998 2019
21
Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy. 61
31193260 2019
22
Non-paraneoplastic related retinopathy: clinical challenges and review. 61
31394964 2019
23
Comparison of clinical characteristics in patients with Vogt-Koyanagi-Harada disease with and without anti-retinal antibodies. 61
31065846 2019
24
Detection of serum anti-retinal antibodies in the Chinese patients with presumed autoimmune retinopathy. 61
31119427 2019
25
Multimodal imaging in non-paraneoplastic autoimmune retinopathy. 61
31238443 2019
26
[Cancer-associated retinopathy (CAR) in neuroendocrine carcinoma of the uterus]. 61
29931395 2019
27
SARILUMAB FOR RECALCITRANT CYSTOID MACULAR EDEMA IN NON-PARANEOPLASTIC AUTOIMMUNE RETINOPATHY. 61
30986811 2019
28
Immune Cell Infiltration into the Eye Is Controlled by IL-10 in Recoverin-Induced Autoimmune Retinopathy. 61
30635390 2019
29
Non-paraneoplastic autoimmune retinopathy: multimodal testing characteristics of 13 cases. 61
30806850 2019
30
Autoimmune retinopathy and optic neuropathy associated with enolase-positive renal oncocytoma. 61
30229140 2018
31
Clinical Features of Japanese Patients With Anti-α-enolase Antibody-Positive Autoimmune Retinopathy: Novel Subtype of Multiple Drusen. 61
30195891 2018
32
AUTOIMMUNE RETINOPATHY IN A PATIENT WITH A MISSENSE MUTATION IN PITPNM3. 61
29176531 2018
33
Presumed autoimmune retinopathy following chickenpox; a case report. 61
28825165 2018
34
The role of cystoid macular edema as a marker in the progression of non-paraneoplastic autoimmune retinopathy. 61
30128606 2018
35
The effect of autoimmune retinopathy on retinal vessel oxygen saturation. 61
29786086 2018
36
Autoimmune neuroretinopathy secondary to Zika virus infection. 61
29720353 2018
37
ISCEV extended protocol for the photopic On-Off ERG. 61
29934802 2018
38
Papilloedema and Autoimmune Retinopathy from Systemic Lupus Erythematosus. 61
29563958 2018
39
Progress Toward Precisely Diagnosing Autoimmune Retinopathy. 61
29396036 2018
40
Refractory Giant Cell Arteritis Complicated by Vision Loss From Optic Atrophy and Maculopathy Associated With Pachymeningitis. 61
29059089 2018
41
Elevated serum levels of IL-6 and CXCL9 in autoimmune retinopathy (AIR) patients. 61
29310941 2018
42
T Helper 1 Cellular Immunity Toward Recoverin Is Enhanced in Patients With Active Autoimmune Retinopathy. 61
30271775 2018
43
Autoimmune Retinopathy: An Immunologic Cellular-Driven Disorder. 61
29721944 2018
44
Autoimmune retinopathy: A Review. 61
29340169 2018
45
Autoimmune Retinopathy. 61
30578520 2018
46
Phage Immunoprecipitation Sequencing of Autoantigens in Autoimmune Retinopathy. 61
27726466 2018
47
Acute Zonal Occult Outer Retinopathy (AZOOR): a case report of vision improvement after intravitreal injection of Ozurdex. 61
29207977 2017
48
Outcomes in Autoimmune Retinopathy Patients Treated With Rituximab. 61
28941647 2017
49
Neurological Complications Associated With Anti-Programmed Death 1 (PD-1) Antibodies. 61
28873125 2017
50
Autoimmune Retinopathy: Current Concepts and Practices (An American Ophthalmological Society Thesis). 61
29576753 2017

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
11.54 ENO2 ENO1
2 11.29 ENO2 ENO1 CA2
3 11.19 ENO2 ENO1
4 10.54 CD40LG AIRE

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 extracellular space GO:0005615 9.26 ENO2 ENO1 CD40LG CA2
2 phosphopyruvate hydratase complex GO:0000015 8.62 ENO2 ENO1

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

# Name GO ID Score Top Affiliating Genes
1 gluconeogenesis GO:0006094 9.26 ENO2 ENO1
2 glycolytic process GO:0006096 9.16 ENO2 ENO1
3 canonical glycolysis GO:0061621 8.96 ENO2 ENO1
4 regulation of vacuole fusion, non-autophagic GO:0032889 8.62 ENO2 ENO1

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

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.13 ENO2 ENO1 CA2
2 phosphopyruvate hydratase activity GO:0004634 8.62 ENO2 ENO1

Sources for Autoimmune 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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