|Year : 2017 | Volume
| Issue : 1 | Page : 40-43
Autoimmune retinopathy: A case report from India
Sudha K Ganesh, Arshee S Ahmed
Department of Uveitis, Medical Research Foundation, Chennai, Tamil Nadu, India
|Date of Web Publication||21-Feb-2017|
Sudha K Ganesh
Medical Research Foundation, Sankara Nethralaya 18, College Road, Chennai - 600 006, Tamil Nadu
Source of Support: None, Conflict of Interest: None
| Abstract|| |
A first case report of autoimmune retinopathy (AIR) from India. A middle-aged female patient presented with subacute loss of vision in both eyes. Clinical examination revealed a near normal fundus in both the eyes. A presumed diagnosis of nonparaneoplastic AIR was made based on clinical features and suggestive investigations. Early detection and management with steroids or immunosuppression may be beneficial to patients with AIR.
Keywords: Anti-retinal antibodies, autoimmune retinopathy, electroretinogram, immunosuppression, optical coherence tomography
|How to cite this article:|
Ganesh SK, Ahmed AS. Autoimmune retinopathy: A case report from India. Oman J Ophthalmol 2017;10:40-3
| Introduction|| |
Autoimmune retinopathies (AIRs) are a group of rare, ill-defined, immunologically mediated disorders which include the paraneoplastic and the nonparaneoplastic-AIR (np-AIR) entities. The paraneoplastic-AIRs include cancer-associated retinopathy and melanoma-associated retinopathy. The first case of vision loss due to cancer-associated retinopathy was described by Sawyer et al. in 1976. The np-AIRs are clinically similar to paraneoplastic AIRs but occur in the absence of underlying malignancy. Many np-AIR patients may also have cystoid macular edema.
AIRs are commonly seen in the fourth to fifth decades and have a slight female preponderance. Commonly seen clinical manifestations include acute or subacute loss of vision in one or both eyes, along with complaints of night blindness, photopsias, abnormal color vision, and visual field defects. This is accompanied by a normal looking fundus or attenuated retinal vasculature, retinal pigment epithelium (RPE) atrophy or mottling, few or no inflammatory cells, and waxy disc pallor. Constricted visual fields, central or paracentral scotomas are usually seen on visual field testing. Electroretinogram (ERG) shows diminished rod and cone responses. Moreover, they demonstrate the presence of circulating anti-retinal antibodies. There is usually a history of autoimmune disease in the family, but no history of retinitis pigmentosa (RP). No established guidelines exist for the treatment of this group of disorders. Here, we a report a case of presumed AIR and the diagnostic challenges this condition poses.
| Case Report|| |
A 44-year-old female patient presented to our institute with complaints of loss of vision in both eyes since 4 years. It was subacute in onset, worsened gradually over a period of 1 year and then stabilized. The patient had a history of bronchial asthma and hypothyroidism and was on treatment for the same. The systemic examination was within normal limits. She had been evaluated elsewhere before presenting to our institute. Old reports revealed a central scotoma in both her eyes, optical coherence tomography (OCT) showed foveal thinning, with foveal thickness being 107 µ in the right eye and 88 microns in the left eye. Visually evoked potential test and computed tomography scan brain-orbits were normal. Her visual acuity at the time of presentation was right eye 6/24, N10 and left eye 6/36, N12; not improving with glasses or pinhole. Rest of the anterior segment evaluation was within normal limits. Fundus showed attenuation of vessels and an altered foveal reflex along with small macular pigment epithelial detachment in both the eyes [Figure 1]. Color vision as checked by the Ishihara chart was 12/21 and 13/21 in the right and left eyes, respectively. At this stage, no intervention was made, and she was advised regular follow-up. A year after the initial presentation, she was seen in the uvea clinic for complaints of floaters and diminished vision in both eyes with persisting headaches. Visual acuity had dropped to 6/60, N12 in both eyes. Examination revealed the presence of few cells in the anterior vitreous and internal limiting membrane (ILM) folds in both eyes. An epiretinal membrane (ERM) also was noted in the right eye [Figure 2]. Ultrasound-B scan showed increased peripapillary choroidal thickness (1.4 and 1.5 mm in the right and left eyes respectively). Fundus fluorescein angiography was done and showed few retinal pigment epethelial window defects and late staining of the optic disc in both eyes [Figure 2]. OCT showed foveal thinning in both eyes (foveal thickness 24 µ in right eye, and 40 µ in the left eye) with RPE atrophy and few cystic spaces, ERM, and ILM striae [Figure 3]. Noting the progressive foveal thinning seen on OCT scans and visual acuity not corresponding to the visible fundus changes, visual field analysis was repeated and showed centrocecal defects in both the eyes. A multifocal ERG was also done and it showed nonrecordable foveal ring responses, reduced parfaoveal ring responses, and minimally reduced perifoveal ring responses in both eyes [Figure 4]. At this stage, a probable diagnosis of AIR was made. An internist was consulted, and any underlying occult malignancy was ruled out. She was advised a trial of a short course of oral steroids for 4 weeks, 1 mg/kg/day, in tapering doses.
|Figure 1: Fundus photograph of both eyes showing attenuation of vessels, and an altered foveal reflex along with small macular pigment epithelial detachment in both the eyes|
Click here to view
|Figure 2: Fundus photograph showing internal limiting membrane folds in both eyes and an epiretinal membrane in the right eye. Fundus fluorescein angiography of both eyes in early and late phases showing few retinal pigment epithelium window defects and late staining of the optic disc|
Click here to view
|Figure 3: Optical coherence tomography showing foveal thinning in both eyes (foveal thickness OD- 24, OS- 40 u) with retinal pigment epithelium atrophy and few cystic spaces, epiretinal membrane, and internal limiting membrane striae|
Click here to view
|Figure 4: Multifocal electroretinogram showing nonrecordable foveal ring responses reduced parafaoveal ring responses and minimally reduced perifoveal ring responses in both eyesxs|
Click here to view
On subsequent follow-up visits after 4 weeks of starting steroids, distance visual acuity improved marginally by one Snellen's line in the left eye and near vision improved to N8. Color vision had improved to 22/24 and 23/24 in the right and left eyes, respectively. There was no visible change in the fundus findings [Figure 5]. At the end of 2½ years, the patient is still on close follow-up and continues to maintain 6/36, N8 vision in both eyes.
|Figure 5: Fundus photograph of both eyes on last follow-up. There was no visible change in the fundus findings. Fundus showed attenuation of vessels and an altered foveal reflex along with small macular pigment epithelial detachment in both the eyesxs|
Click here to view
| Discussion|| |
AIRs are a group of poorly understood disorders which are characterized by an acute or subacute loss of vision, decreased ERG responses, and presence of circulating anti-retinal antibodies. Our patient presented with subacute dimunition of vision in both eyes, decreased color vision scores and presence of progressive foveal atrophy noted on OCT. OCT was also remarkable as it showed in sequential scans, the progressive foveal thinning. OCT in patients with AIR shows preferential affection of the outer retina with loss of the inner segment-outer segment junction, and loss of the outer nuclear layers and photoreceptors. The visual field examination showed the presence of paracentral and cecocentral scotomas in our patient which again reflects a preferential involvement of the central retina in this condition. ERG was done to evaluate the rod and cone responses, and it revealed bilaterally extinguished responses which again was a strong pointer toward a diagnosis of AIR. The definitive diagnosis can be probably made by demonstrating the presence of anti-retinal antibodies in the sera of this patient. Autoantibodies against multiple retinal antigens including recoverin, α-enolase, heat-shock proteins, arrestin, transducin, neurofilament protein, and carbonic anhydrase II, have been reported in sera of patients with autoimmune- and cancer-associated retinopathy., Np-AIR has also been associated with anti-retinal antibodies, most commonly against recoverin. Various techniques are available to investigate the presence of serum autoantibodies to components of retina including immunohistochemistry, Western blotting, enzyme-linked immunosorbent assay, cytotoxicity assays, and multiplex assays. But as the tests are expensive and available in only limited centers, we were unable to perform it for our patient. Therefore, we made a diagnosis of np-AIR based on clinical findings with the help of ancillary tests such as ERG, OCT, and visual field analysis.
As retinal autoantibody testing is not available in our country, we did not have the chance to assess for the presence of autoantibodies as part of our diagnostic work up. The exact role of the autoantibodies has not been fully established and their presence does not always indicate an autoimmune disease, since the presence of anti-retinal antibodies can be observed in normal human sera as well. Anti-recoverin antibodies have also been observed in patients with RP and acute zonal occult outer retinopathy without any evidence of systemic malignancy.,, still their documentation remains the strongest evidence for the diagnosis of AIR.
The fact that the patient showed only a mild response to oral steroids is consistent with other published data regarding the response of np-AIR to immunosuppression. Patients with established np-AIR have, as a group, generally failed to respond to oral corticosteroid therapy or therapy with immunosuppressive agents. Furthermore, the presence of autoimmune history either in the patient or in the family, is a predictor of poor response to therapy, as was also noted in our patient. AIRs have been treated with various forms of immunosuppression ranging from periocular or systemic corticosteroids (both oral and intravenous) to drugs such as cyclosporine, mycophenolate mofetil, and intravenous immunoglobulins.
Ultimately, the diagnosis of AIR remains extremely challenging. A high index of clinical suspicion along with ancillary investigations and presence of anti-retinal antibodies may aid in the diagnosis of this condition.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Heckenlively JR, Ferreyra HA. Autoimmune retinopathy: A review and summary. Semin Immunopathol 2008;30:127-34.
Sawyer RA, Selhorst JB, Zimmerman LE, Hoyt WF. Blindness caused by photoreceptor degeneration as a remote effect of cancer. Am J Ophthalmol 1976;81:606-13.
Heckenlively JR, Solish AM, Chant SM, Meyers-Elliott RH. Autoimmunity in hereditary retinal degenerations. II. Clinical studies: Antiretinal antibodies and fluorescein angiogram findings. Br J Ophthalmol 1985;69:758-64.
Ferreyra HA, Jayasundera T, Khan NW, He S, Lu Y, Heckenlively JR. Management of autoimmune retinopathies with immunosuppression. Arch Ophthalmol 2009;127:390-7.
Abazari A, Allam SS, Adamus G, Ghazi NG. Optical coherence tomography findings in autoimmune retinopathy. Am J Ophthalmol 2012;153:750-6.
Braithwaite T, Vugler A, Tufail A. Autoimmune retinopathy. Ophthalmologica 2012;228:131-42.
Adamus G, Ren G, Weleber RG. Autoantibodies against retinal proteins in paraneoplastic and autoimmune retinopathy. BMC Ophthalmol 2004;4:5.
Oray M, Kir N, Tuncer S, Onal S, Tugal-Tutkun I. Autoimmune retinopathies: A report of 3 cases. Ocul Immunol Inflamm 2013;21:424-33.
Shimazaki K, Jirawuthiworavong GV, Heckenlively JR, Gordon LK. Frequency of anti-retinal antibodies in normal human serum. J Neuroophthalmol 2008;28:5-11.
Heckenlively JR, Fawzi AA, Oversier J, Jordan BL, Aptsiauri N. Autoimmune retinopathy: Patients with antirecoverin immunoreactivity and panretinal degeneration. Arch Ophthalmol 2000;118:1525-33.
Gass JD, Agarwal A, Scott IU. Acute zonal occult outer retinopathy: A long-term follow-up study. Am J Ophthalmol 2002;134:329-39.
Jacobson SG, Morales DS, Sun XK, Feuer WJ, Cideciyan AV, Gass JD, et al.
Pattern of retinal dysfunction in acute zonal occult outer retinopathy. Ophthalmology 1995;102:1187-98.
Weleber RG, Watzke RC, Shults WT, Trzupek KM, Heckenlively JR, Egan RA, et al.
Clinical and electrophysiologic characterization of paraneoplastic and autoimmune retinopathies associated with antienolase antibodies. Am J Ophthalmol 2005;139:780-94.
Guy J, Aptsiauri N. Treatment of paraneoplastic visual loss with intravenous immunoglobulin: Report of 3 cases. Arch Ophthalmol 1999;117:471-7.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]