Choroidal and peripapillary changes in high myopic eyes with Stickler syndrome

Olivia Xerri,Pierre-Raphaël Rothschild,Olivier Laplace,Dominique Bremond-Gignac,Gilles Guerrier,Claire Monin,Elise Philippakis,Sophie Valleix,Cyril Burin-Des-Roziers,Pierre-Olivier Barale,Antoine Brezin,Federico Bernabei

doi:10.1186/s12886-020-01777-3

Abstract

BackgroundTo compare different clinical and Spectral-Domain Optical Coherence Tomography (SD-OCT) features of high myopic eyes with Stickler syndrome (STL) with matched controls.MethodsPatients with genetically confirmed STL with axial length ≥ 26 mm and controls matched for axial length were included. The following data were obtained from SD-OCT scans and fundus photography: choroidal and retinal thickness (respectively, CT and RT), peripapillary atrophy area (PAA), presence of posterior staphyloma (PS).ResultsTwenty-six eyes of 17 patients with STL and 25 eyes of 19 controls were evaluated. Compared with controls, patients with STL showed a greater CT subfoveally, at 1000 μm from the fovea at both nasal and temporal location, and at 2000 and 3000 μm from the fovea in nasal location (respectively, 188.7±72.8 vs 126.0±88.7 μm, 172.5±77.7 vs 119.3±80.6 μm, 190.1±71.9 vs 134.9±79.7 μm, 141.3±56.0 vs 98.1±68.5 μm, and 110.9±51.0 vs 67.6±50.7 μm, always P< 0.05). Furthermore, patients with STL showed a lower prevalence of PS (11.5% vs 68%, P< 0.001) and a lower PAA (2.2±2.1 vs 5.4±5.8 mm2, P=0.03), compared with controls.ConclusionsThis study shows that high myopic patients with STL show a greater CT, a lower PAA and a lower prevalence of PS, compared with controls matched for axial length. These findings could be relevant for the development and progression of myopic maculopathy in patients with STL.

Highlights

To compare different clinical and Spectral-Domain Optical Coherence Tomography (SD-OCT) features of high myopic eyes with Stickler syndrome (STL) with matched controls
In order to evaluate the status of the retina and the choroid in the absence of macular complications related to myopia, eyes with lacquer cracks, myopic choroidal neovascularization (CNV), myopic traction maculopathy, dome-shaped macula and macular hole were excluded from both groups
Forty-nine patients (98 eyes) with genetically confirmed STL were identified from the French vitreoretinopathy study group (FVSG) database

Summary

Introduction

To compare different clinical and Spectral-Domain Optical Coherence Tomography (SD-OCT) features of high myopic eyes with Stickler syndrome (STL) with matched controls. Few studies have reported the prevalence of high myopia (HM) in STL, and it is estimated to occur in 76 to 80% of patients [8, 10]. HM is typically (2021) 21:2 present at birth and has a non-progressive course [11]. This is a highly distinctive feature of the disease, because it is often the only manifestation during infancy.

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