Retinal Capillary Abnormalities in Sjögren-Larsson Syndrome Maculopathy.

Abstract

Sjögren-Larsson syndrome (SLS) is a neurometabolic disease with a peculiar crystalline maculopathy. It is yet unclear if vascular abnormalities play a role in SLS maculopathy pathogenesis. We used optical coherence tomography angiography (OCT-A) to search for vessel abnormalities in SLS maculopathy. We performed a cross-sectional study in 4 patients (2 males, 2 females, aged 12-36 years) with various stages of SLS maculopathy. Besides OCT-A imaging, a complete ophthalmological examination and additional retinal imaging by transversal and en face spectral domain (SD) OCT were performed. OCT-A images were qualitatively assessed for vascular abnormalities, and imaging was compared to eight eyes of four healthy controls. On OCT-A, all eyes of patients with SLS showed a reduced capillary density around the fovea, and an enlarged foveal avascular zone (FAZ; SLS patients [n = 6 eyes] mean 0.70 mm2 [SD 0.18]; healthy controls [n = 8 eyes] mean 0.34 mm2 [SD 0.07], p = 0.004). In 2 patients, telangiectatic vessels were seen in the deep capillary layer. In conclusion, OCT angiography showed capillary paucity and morphological vessel abnormalities in these 4 patients with SLS.

• Authors: Pippa Staps, Anita de Breuk, Johannes R M Cruysberg, Michèl Willemsen, Thomas Theelen
• Journal: Case reports in ophthalmology (Case Rep Ophthalmol) 2022 May-Aug Vol. 13 Issue 2 Pg. 341-349 ISSN: 1663-2699 [Print] Switzerland
• PMID: 35702653 (Publication Type: Case Reports)
• Copyright: Copyright © 2022 by S. Karger AG, Basel.