High-Resolution OCT, Autofluorescence and Infrared Reflectance Imaging in Sjögren Reticular Dystrophy

Abstract

Purpose: : To describe the phenotypical findings in two cases of Sjögren reticular dystrophy (SRD), including high-resolution optical coherence tomography (OCT) and autofluorescence (AFI) and near-infrared reflectance (IRI) imaging.

Methods: : A 10 y/o girl (patient 1) and an unrelated 12 y/o boy (patient 2) were referred for ophthalmological evaluation. Both underwent a full ophthalmological work-up, including electrophysiological testing and extensive spectral domain OCT and AFI and IRI. In addition, mutation screening of the ABCA4 and PRPH2 genes was performed in patient 2.

Results: : Strikingly similar phenotypes were established in these two unrelated patients. Fundoscopy showed central macular alterations of the retinal pigment epithelium (RPE), and a lobular fishnet network of deep retinal pigmented deposits throughout the posterior pole tapering towards the midperiphery, but not present in the far periphery, in both eyes. There was relative sparing of the central perifoveal macula and peripapillary area. This network is slightly hyperautofluorescent on AFI and also hyperintense on IRI, suggesting that the lesions consist of both lipofuscin and pigment. OCT shows outer retinal alterations with thickening of the inner part of the RPE-Bruch membrane complex and the zone representing the PR outer segments, suggestive of accumulation of material both in the RPE as well as under the neuroretina. Retinal function as tested with extensive electrophysiological tests was entirely normal.No mutation was detected in the ABCA4 and PRPH2 genes in patient 2.

Conclusions: : High-resolution OCT, AFI and IRI suggest that the lobular network of deep retinal deposits in SRD is due to an accumulation of both pigment and lipofuscin between PRs and RPE, as well as in the RPE.

Keywords: retinal degenerations: hereditary • imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) • electrophysiology: clinical