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S. S. Radhakrishnan, A. E. Laing, G. Adamus, A. Iannaccone; Clinical Characteristics of Patients With Auto-immune Retinopathies (AIR) and Neuropathies (AIN): Differential Diagnosis With Retinitis Pigmentosa (RP). Invest. Ophthalmol. Vis. Sci. 2009;50(13):975.
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To report the clinical characteristics of a retrospective case series of patients with AIR and AIN.
Eighteen consecutive cases [M=8; F=10; 78% White; age range: 31-70 years old (yo)] referred to rule out RP or other related disorders were ascertained. The diagnostic suspicion of AIR and/or AIN was based on the results of Goldmann visual fields, flash electroretinograms, and visual evoked potentials, and it was confirmed by diagnostic Western blots (WB) of serum samples for anti-retinal and anti-optic nerve auto-antibodies (Auto-Abs). Age of onset, modality of onset, and type of visual symptoms, history of cancer, presence of anterior chamber (A/C) cells, and fundus features were analyzed.
All patients presented with widely variable acute or sub-acute symptoms between age 25 and 66 yo (mean±SD: 45.6±10.7). Photopsias at onset were seen in 6 cases (33%). Visual loss was asymmetric between eyes in 11 cases (61%). Six cases (33%) had history of, or subsequent diagnosis of cancer (paraneoplastic AIR/AIN). A/C cells were seen intermittently in 5 cases (28%). All but one case had changes at (pallor, hyperemia/swelling) or around the disc. Juxtapapillary pigmentation or atrophy were observed in 14 (78%) of cases, and punched-out peripheral retinal lesions in 11 (61%). Both features coexisted in 50% of cases. Retinal vessels were attenuated in 9 cases (50%) and had sheathings in two. Macular changes were seen in 13 (72%) of cases (edema = 4; punctate RPE loss = 9). Peripheral changes included RPE hyperpigmentation or loss (n=12, 67%), and bone spicule-like deposits (n=9, 50%, mainly paravascular and sparse). Numerous distinct reactive bands were identified by WB, -enolase (46-kDa) being the most common (n=12, 67%). Half of the cases had ≥2 Auto-Ab bands, and as many as four. There was no recognizable correlation between type or number of Auto-Abs and clinical features.
Unlike patients with RP, patients with AIR and AIN present with the recognizable clinical features of: late- and sudden-onset symptoms; inter-ocular asymmetry of visual loss; and ophthalmoscopic findings most often characterized by (i) papillary and juxtapapillary changes, (ii) punched-out peripheral retinal lesions and (iii) macular punctate RPE dropout. RP-like changes were seen in half of the cases, but were typically limited to few paravascular pigmentary deposits. Recognition of these highly suggestive features should prompt an Auto-Ab work-up and can aid in diagnosing these patients correctly and promptly.
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