|prognosis = Variable; early diagnosis and treatment may preserve some vision
|differential =
|frequency = Rare
|prevention =
|deaths = Related to associated malignancies (if present)
|treatment =
|medication =
|prognosis =
|frequency =
|deaths =
}}
}}
'''Autoimmune retinopathy''' (AIR) is a rare [[disease]] in which the [[patient]]'s [[immune system]] attacks [[protein]]s in the [[retina]], leading to loss of [[eyesight]]. The disease is poorly understood, but may be the result of [[cancer]] or cancer [[chemotherapy]].<ref>{{cite journal|last1=Grange|first1=Landon|last2=Dalal|first2=Monica|last3=Nussenblatt|first3=Robert B.|last4=Sen|first4=H. Nida|title=Autoimmune Retinopathy|journal=American Journal of Ophthalmology|date=February 2014|volume=157|issue=2|pages=266–272.e1|doi=10.1016/j.ajo.2013.09.019|pmid=24315290|pmc=3946999}}</ref> The disease is an autoimmune condition characterized by vision loss, blind spots, and visual field abnormalities. It can be divided into cancer-associated retinopathy (CAR) and melanoma-associated retinopathy (MAR).<ref name=":0">{{Cite journal|last=Grange|first=Landon|last2=Dalal|first2=Monica|last3=Nussenblatt|first3=Robert B.|last4=Sen|first4=H. Nida|date=2016-10-31|title=Autoimmune Retinopathy|journal=American Journal of Ophthalmology|volume=157|issue=2|pages=266–272.e1|doi=10.1016/j.ajo.2013.09.019|issn=0002-9394|pmc=3946999|pmid=24315290}}</ref> The condition is associated with retinal degeneration caused by autoimmune antibodies recognizing retinal proteins as antigens and targeting them.<ref>{{Cite journal|last=Adamus|first=Grazyna|last2=Ren|first2=Gaoying|last3=Weleber|first3=Richard G|date=2004-06-04|title=Autoantibodies against retinal proteins in paraneoplastic and autoimmune retinopathy|journal=BMC Ophthalmology|volume=4|pages=5|doi=10.1186/1471-2415-4-5|issn=1471-2415|pmc=446200|pmid=15180904}}</ref> AIR's prevalence is extremely rare, with CAR being more common than MAR.<ref name=":0" /> It is more commonly diagnosed in females (approximately 60% of diagnosed patients are females) in the age range of 50-60.<ref name=":0" />
==Types==
'''Autoimmune retinopathy''' (AIR) is a rare [[autoimmune disease]] characterized by the immune system mistakenly attacking the [[retina]], the light-sensitive tissue at the back of the [[eye]]. This condition can lead to progressive [[vision loss]] and is often associated with other systemic autoimmune disorders.
=== Cancer-associated retinopathy ===
A division of AIR, cancer-associated retinopathy is a [[paraneoplastic syndrome]], which is a disorder caused by an immune system response to an abnormality. Autoimmune antibodies target proteins in retinal photoreceptor cells. The proteins targeted as antigenic are [[recoverin]], ''α''‐enolase and [[transducin]].<ref name=":5" /> This autoimmune response leads to photoreceptor cell death.<ref name=":5">{{Cite journal|last=Weixler|first=Benjamin|last2=Oertli|first2=Daniel|last3=Nebiker|first3=Christian Andreas|date=2015-12-20|title=Cancer‐associated retinopathy as the leading symptom in colon cancer|journal=Clinical Case Reports|volume=4|issue=2|pages=171–176|doi=10.1002/ccr3.463|issn=2050-0904|pmc=4736525|pmid=26862417}}</ref> It causes progressive vision loss that can lead to blindness.<ref name=":1" /> CAR is typically associated with the anti-recoverin antibody.<ref name=":0" />
=== Melanoma-associated retinopathy ===
==Pathophysiology==
[[Retina bipolar cell|Retinal bipolar cells]] (cells in retina that transmit signals) react with the antibodies, leading to cell death. Although it is less prevalent than CAR, diagnosed cases of MAR continue to increase while CAR numbers decrease.<ref name=":0" />
Autoimmune retinopathy occurs when the body's [[immune system]] produces [[antibodies]] that target and damage retinal cells. The exact mechanism is not fully understood, but it is believed that these antibodies interfere with normal retinal function, leading to cell death and subsequent vision impairment. The condition is often associated with the presence of anti-retinal antibodies (ARAs), which can be detected through specialized blood tests.
== Signs and symptoms ==
==Symptoms==
Both CAR and MAR share the same symptoms. This is because they are both paraneoplastic syndromes. AIR symptoms are numerous and shared by many other diseases.<ref name=":0" />
The symptoms of autoimmune retinopathy can vary but typically include:
{| class="wikitable"
* Progressive [[vision loss]]
!Symptoms
* [[Photopsia]] (flashes of light)
|-
* [[Scotoma]] (blind spots)
|Painless Vision Loss
* [[Night blindness]]
|-
* Decreased [[visual acuity]]
|Blind Spots in Vision
|-
|[[Photopsia]]
|-
|[[Nyctalopia]]
|-
|[[Scotoma]]s
|-
|Dislike/avoidance of light
|-
|Loss of contrast sensitivity
|-
|Incomplete colour blindness
|-
|Decreased night vision
|}
<ref name=":0" /><ref>{{Cite journal|last=Larson|first=T. A.|last2=Gottlieb|first2=C. C.|last3=Zein|first3=W. M.|last4=Nussenblatt|first4=R. B.|last5=Sen|first5=H. N.|date=2010-04-17|title=Autoimmune Retinopathy: Prognosis and Treatment|url=http://iovs.arvojournals.org/article.aspx?articleid=2374977|journal=Investigative Ophthalmology & Visual Science|volume=51|issue=13|pages=6375|issn=1552-5783}}</ref><ref>{{Cite journal|date=2016-11-21|title=Optical Coherence Tomography Findings in Autoimmune Retinopathy|journal=American Journal of Ophthalmology|volume=153|issue=4|pages=750–756.e1|doi=10.1016/j.ajo.2011.09.012|issn=0002-9394|pmc=3495560|pmid=22245461|last1=Abazari|first1=Azin|last2=Allam|first2=Souha S.|last3=Adamus|first3=Grazyna|last4=Ghazi|first4=Nicola G.}}</ref>
== Diagnosis ==
These symptoms can progress over time, leading to significant visual impairment.
Diagnosis of AIR can be difficult due to the overlap of symptoms with other disorders.<ref name=":0" /> Examination of the [[Fundus (eye)|fundus]] (inner surface of eye) can show no results or it can show narrowing of the blood vessels, abnormal colouration of the [[optic disc]], and retinal atrophy.<ref name=":0" /><ref name=":1" /> Fundus examination results are not indicative of autoimmune retinopathy but they are used to initiate the diagnostic process. An [[Electroretinography|electroretinogram]] (eye test used to see abnormalities in the retina) is used to detect AIR. An abnormal electroretinogram (ERG) with respect to light and dark adaptations indicates AIR.<ref name=":0" /> The ERG also allows differentiation between cancer-associated retinopathy and melanoma-associated retinopathy.<ref name=":0" /> If the ERG shows [[Cone cell|cone]] responses, CAR can be prematurely diagnosed.<ref name=":0" /> If the ERG shows a significant decrease in b-wave amplitude, MAR can be prematurely diagnosed.<ref name=":0" /><ref>{{Cite web|url=http://www.cancernetwork.com/melanoma/absent-minded-professor-unusual-complication-melanoma|title=The Absent-Minded Professor: An Unusual Complication of Melanoma |date=2008-12-01|website=www.cancernetwork.com|access-date=2016-11-21}}</ref> To confirm, analysis for anti-retinal antibodies through [[Western blot]]ting of serum collected from the patient is done.<ref name=":0" /><ref name=":1" />
== Treatment ==
==Diagnosis==
Due to the difficulty of diagnosis, managing this disease is a challenge. For this reason, there is no established treatment for AIR. Clinicians try to reduce and control the autoimmune system attack to prevent any irreversible retinal damage.<ref name=":1">{{Cite journal|last=Braithwaite|first=T.|last2=Vugler|first2=A.|last3=Tufail|first3=A.|date=2012-01-01|title=Autoimmune retinopathy|journal=Ophthalmologica|volume=228|issue=3|pages=131–142|doi=10.1159/000338240|issn=1423-0267|pmid=22846442}}</ref> Methods of treatment include [[Immunoglobulin therapy|intravenous immunoglobulin]] (IVIG), [[plasmapheresis]], and [[corticosteroid]]s.<ref name=":1" />
Diagnosing autoimmune retinopathy can be challenging due to its rarity and the overlap of symptoms with other retinal diseases. A comprehensive [[ophthalmic examination]] is essential, which may include:
* [[Visual field test]]
* [[Electroretinography]] (ERG)
* [[Optical coherence tomography]] (OCT)
* Blood tests for anti-retinal antibodies
=== Immunoglobulin ===
==Treatment==
[[Immunoglobulin]] samples are obtained from a large pool of healthy, matched donors (10000 - 20000).<ref name=":2">{{Cite journal|last=Pyne|first=D.|last2=Ehrenstein|first2=M.|last3=Morris|first3=V.|date=2002-04-01|title=The therapeutic uses of intravenous immunoglobulins in autoimmune rheumatic diseases|url=http://rheumatology.oxfordjournals.org/content/41/4/367|journal=Rheumatology|language=en|volume=41|issue=4|pages=367–374|doi=10.1093/rheumatology/41.4.367|issn=1462-0324|pmid=11961165}}</ref> The immunoglobulin mixture is then administered through IV at a rate of 0.4g/kg/day for 5 days.<ref name=":1" /> Antibodies in the IVIG mixture interact with binding sites of the disease-associated antibodies (such as anti-recoverin antibodies).<ref name=":2" /> This prevents binding to proteins targeted as antigenic and reduces disease activity.<ref name=":2" /> Responses to this treatment can vary and are impacted if the patient is diagnosed with any type of cancer.<ref>{{Cite journal|last=Adamus|first=Grazyna|last2=Ren|first2=Gaoying|last3=Weleber|first3=Richard G.|date=2004-01-01|title=Autoantibodies against retinal proteins in paraneoplastic and autoimmune retinopathy|journal=BMC Ophthalmology|volume=4|pages=5|doi=10.1186/1471-2415-4-5|issn=1471-2415|pmc=446200|pmid=15180904}}</ref> Patients who respond positively show improvement in the clarity of their vision and their visual field.<ref name=":2" />
Treatment for autoimmune retinopathy aims to suppress the immune response and preserve vision. Common approaches include:
* [[Corticosteroids]] to reduce inflammation
* [[Immunosuppressive therapy]] such as [[methotrexate]] or [[mycophenolate mofetil]]
* [[Intravenous immunoglobulin]] (IVIG)
=== Plasmapheresis ===
The effectiveness of treatment varies, and early intervention is crucial to prevent irreversible vision loss.
Plasmapheresis involves separating blood into two parts - blood cells and plasma.<ref name=":3">{{Cite journal|last=Lobo|first=David R|last2=García-Berrocal|first2=Jose Ramon|last3=Ramírez-Camacho|first3=Rafael|date=2014-06-26|title=New prospects in the diagnosis and treatment of immune-mediated inner ear disease|journal=World Journal of Methodology|volume=4|issue=2|pages=91–98|doi=10.5662/wjm.v4.i2.91|issn=2222-0682|pmc=4202484|pmid=25332908}}</ref> The blood plasma components, such as the antibodies, are treated outside of the body. After removal of the disease-associated antibodies, the blood cells and plasma are transfused back into the body.<ref name=":3" /> Response to this treatment depends on how much retinal damage has been done. Patients who respond positively show significant visual gains.<ref name=":1" />
=== Corticosteroids ===
==Prognosis==
Corticosteroids are administered through IV or orally. They cause [[lymphocytopenia]], a condition where white blood cell levels are abnormally low.<ref name=":4">{{Cite journal|last=Hall|first=Bruce M.|year=1999|title=Corticosteroids in autoimmune diseases|journal=Australian Prescriber|volume=22|pages=9–11|doi=10.18773/austprescr.1999.008|doi-access=free}}</ref> Corticosteroids cause white blood cell death, lowering their numbers throughout the body.<ref name=":4" /> They also cause white blood cells to recirculate away from the area of damage (the retina).<ref name=":4" /> This minimizes damage caused by the antibodies produced by the white blood cells. Often, this is treatment is combined with plasmapheresis.<ref name=":1" /> Instead of treating the plasma and blood cells, they are replaced with a healthy donor mixture. Patients who respond positively show improved visual fields and an almost complete disappearance of anti-retinal antibodies.<ref>{{Cite journal|title=Remission of Nonparaneoplastic Autoimmune Retinopathy After Minimal Steroid Treatment|journal=Retinal Cases & Brief Reports|doi=10.1097/ICB.0000000000000131|pmid=25764315|volume=9|issue=2|pages=173–176|year=2015|last1=Bursztyn|first1=Lulu L. C. D.|last2=Belrose|first2=Jillian C.|last3=Coupland|first3=Stuart G.|last4=Fraser|first4=J. Alexander|last5=Proulx|first5=Alain A.}}</ref>
The prognosis for individuals with autoimmune retinopathy depends on the severity of the disease and the response to treatment. Early diagnosis and management are key to preserving vision and preventing further retinal damage.
Variable; early diagnosis and treatment may preserve some vision
Frequency
Rare
Deaths
Related to associated malignancies (if present)
Autoimmune retinopathy (AIR) is a rare autoimmune disease characterized by the immune system mistakenly attacking the retina, the light-sensitive tissue at the back of the eye. This condition can lead to progressive vision loss and is often associated with other systemic autoimmune disorders.
Autoimmune retinopathy occurs when the body's immune system produces antibodies that target and damage retinal cells. The exact mechanism is not fully understood, but it is believed that these antibodies interfere with normal retinal function, leading to cell death and subsequent vision impairment. The condition is often associated with the presence of anti-retinal antibodies (ARAs), which can be detected through specialized blood tests.
Diagnosing autoimmune retinopathy can be challenging due to its rarity and the overlap of symptoms with other retinal diseases. A comprehensive ophthalmic examination is essential, which may include:
The prognosis for individuals with autoimmune retinopathy depends on the severity of the disease and the response to treatment. Early diagnosis and management are key to preserving vision and preventing further retinal damage.
