|Year : 2022 | Volume
| Issue : 1 | Page : 152-154
Non-neoplastic autoimmune retinopathy – A rare disorder in unusual age group
Srinivas Gowda, Mansur A Khan, Anjali Maheshwari, S Mohan
Department of Ophthalmology, Command Hospital (Air Force), Bengaluru, Karnataka, India
|Date of Submission||30-Nov-2020|
|Date of Acceptance||01-Jul-2021|
|Date of Web Publication||07-Jan-2022|
Dr. Anjali Maheshwari
Command Hospital Airforce, Bengaluru, Karnataka
Source of Support: None, Conflict of Interest: None
Nonparaneoplastic autoimmune retinopathy (npAIR) is a subtype in the spectrum of autoimmune retinopathy (AIR) disorders. Diagnosis is a challenging task due to its rare incidence, lack of epidemiological data, no accepted standardized diagnostic criteria, nonavailability of testing facilities, and economic factors. As per available data, npAIR is more common (60%) in females above 50 years, but in our case, it presented in a relatively young lady of 32 years. We report a rare disorder with diagnostic challenges presenting in an unusual age group.
Keywords: Antiretinal antibodies (ARA), Autoimmune retinopathy (AIR), Cancer-associated retinopathy CAR), melanoma- associated retinopathy (MAR), nonparaneoplastic AIR (npAIR), paraneoplastic AIR (PAIR)
|How to cite this article:|
Gowda S, Khan MA, Maheshwari A, Mohan S. Non-neoplastic autoimmune retinopathy – A rare disorder in unusual age group. Indian J Ophthalmol Case Rep 2022;2:152-4
|How to cite this URL:|
Gowda S, Khan MA, Maheshwari A, Mohan S. Non-neoplastic autoimmune retinopathy – A rare disorder in unusual age group. Indian J Ophthalmol Case Rep [serial online] 2022 [cited 2022 Jan 23];2:152-4. Available from: https://www.ijoreports.in/text.asp?2022/2/1/152/334945
Autoimmune retinopathy (AIR) is a unique spectrum of rare retinal degenerative disorders having a common set of clinical findings, associations, and symptoms. Cancer-associated retinopathy (CAR) and melanoma-associated retinopathy (MAR) are included in paraneoplastic AIR (pAIR) subtype and other subtypes of non-paraneoplastic AIR (npAIR), which does not have any associated underlying neoplasm. Acute zonal outer occult retinopathy (AZOOR), presenting with a trizonal pattern of degeneration, is considered as a subtype of npAIR first described by Gass in 1992. In the next decade, antibodies were recognized in a similar clinical phenotype case identified as recoverin and autoantibodies to an unknown antigen on bipolar cells in clinical phenotype patients with cutaneous malignant melanoma. Due to the lack of population-based epidemiological data on AIR, the exact prevalence is unknown. AIR is extremely rare, with CAR being more common than MAR. Most prevalent in older adults in the age range of 50–60 and 60% females among diagnosed cases. Some authors reported a case in a 3-year-old child as well. Small-cell lung cancer is the most frequently associated followed by breast, uterine, ovarian, and cervical carcinomas. Other cancer associations include hematological, prostate, colon, and lymphomas. The autoimmune retinopathy syndromes present with visual deterioration which is painless, rapidly progressive, and usually bilateral with scotomas, photopsia, nyctalopia, and dyschromatopsia. Most affected cells in npAIR are cones or rods or both, in CAR are cones and rods, in MAR are rods and antibodies against bipolar cells. The AIR cases present with either minimal or without any intraocular inflammatory signs. Funduscopic changes, which include vascular attenuation, diffuse retinal atrophy, mottling of the retinal pigment epithelium, and optic disc pallor, may occur over time. The absence of clinical findings at the time of onset of the disease, the lack of standardized diagnostic criteria, and its rare incidence make the diagnosis of AIR challenging.
| Case Report|| |
A 32-year-old female presented with complaints of painless diminution of vision both eyes more in left eye than right eye of 6 months duration with gradual progression. Associated history of headache of the same duration with on and off episodes was noted. There was no history that was significant and correlated with the presenting complaints. There was no family history of any blindness disorders including retinitis pigmentosa. There was no history of any chronic drug intake. On evaluation, her visual acuity was 4/60 in right eye and hand movement close to face in left eye not improving with glasses or pinhole. Grade I RAPD elicited in left eye; rest of the anterior segment evaluation was within normal limits. Fundus showed bilateral retinal degenerative changes of generalized hypopigmented mottled appearance with free interspersed pigments with attenuation of vessels, macular atrophic changes, and optic disc pallor left more than right eye [Figure 1]. A systemic workup for vasculitis was done and found normal. Fundus fluorescein angiography showed mottled hyperflourscence due to window defects from pigment atrophy and also decreased filling of vessels [Figure 2]. Visual field showed dense central scotoma right eye [Figure 3] and unrecordable left eye. Electroretinogram (ERG) showed diminished scotopic and photopic responses [Figure 4]. At this stage second opinion was taken from a renowned retina specialist and a probable diagnosis of autoimmune retinopathy was made. Systemic workup was done for neoplasia as it can be a paraneoplastic syndrome. Review by an oncologist and whole-body PET scan did not reveal any tumor. Blood sample was sent for autoimmune retinopathy panel for detection of antibodies for retinal antigens to confirm autoimmune pathology at Oregon health and science university (ocular immunology laboratory). The auto immune retinopathy results strongly suggested AR autoantibodies against enolase (46-kDa) with positive results for 6 out of 7 antibodies confirming autoimmune pathology. The patient was started on oral steroids in tapering doses with regular monitoring and being managed in consultation with an immunologist.
|Figure 1: Fundus showing bilateral retinal degenerative changes of generalized hypopigmented mottled appearance with free interspersed pigments with attenuation of vessels, macular atrophic changes, and optic disc pallor left more than right eye|
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|Figure 2: Fundus fluorescein angiography showed mottled hyperflourscence due to window defects from pigment atrophy and decreased filling of vessels|
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|Figure 4: Electroretinogram (ERG) showed diminished scotopic and photopic responses|
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| Discussion|| |
AIRs are a group of poorly understood disorders that are characterized by an acute or subacute loss of vision, decreased ERG responses, and presence of circulating anti-retinal antibodies. Autoantibodies can be seen in healthy persons also as epiphenomenon without any pathogenic potential. Anti-retinal antibodies have been described in systemic autoimmune diseases such as Behcet's disease, inflammatory bowel disease, systemic lupus erythematosus, and multiple sclerosis, degenerative ocular diseases such as age-related macular degeneration, and in uveitis both infectious and noninfectious. To date, 17 anti-retinal antibodies (ARAs) have been described in patients with presumed AIR. ARAs directed toward retinal antigens, inflammatory destruction of photoreceptors, degenerative changes in the retina, and retinal pigment epithelium are commonly proposed pathogenetic mechanisms of these diseases. Retinal autoimmunity can develop following retinal damage caused by physical, microorganismal, or immunological insult. Autoimmunity does not initiate ocular inflammation but it perpetuates and maintains the inflammatory state and produces further damage to ocular tissues. The retinal pathogenic potential of many of the autoantibodies proposed to be involved in AIR remains uncertain. Common differential diagnoses of AIR include retinitis pigmentosa, white dot syndromes, cone-rod dystrophy, and other uveitic syndromes. There are very few proven reports from India, probably due to high costs in testing, logistic difficulties, and similarity to RP resulting in misdiagnosis as RP and left untreated. npAIR is more common in females above 50 years, but in our case, it presented in a relatively young female of 32 years. This is a unique case of a rare disorder presenting in an unusual age group.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Dr. Mahesh Shanmugam, DO, FRCS Ed, Ph.D., FAICO, Head, Vitreoretinal and ocular oncology, Sankara eye hospital, Bangalore
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]