Choroidal Vascularity Features in Patients with Choroideremia and Cystoid Spaces

Claudio Iovino,Francesca Simonelli,Paolo Melillo,Kiran Kumar Vupparaboina,Jay Chhablani,Francesco Testa,Viviana Bombace,Valentina Di Iorio

doi:10.3390/diagnostics11030382

Abstract

Cystoid spaces (CSs) are a common retinal finding in choroideremia (CHM) patients. The aim of this study was to analyze the vascular features of the choroid associated with the presence of CSs in patients with confirmed genetic diagnosis of CHM. A total of 33 patients (33 eyes) were enrolled in this retrospective cross-sectional study and divided into two groups based on the presence (17 eyes) or absence (16 eyes) of CSs. Choroidal features were evaluated on spectral-domain optical coherence tomography including subfoveal choroidal thickness (CT), total choroidal area (TCA), luminal choroidal area (LCA), and stromal choroidal area (SCA). The choroidal vascularity index (CVI) was then calculated in all study eyes. All structural choroidal parameters were calculated both on the entire length of the B-scan and in the central subfoveal 1500 μm. The average age was 37.3 ± 11.6 and 31.4 ± 16.7 years (p = 0.25) and mean logMAR best-corrected visual acuity was 0.11 ± 0.20 and 0.20 ± 0.57 (p = 0.54) in the CHM groups with and without CSs, respectively. There were no significant differences in subfoveal CT, and TCA, LCA, SCA, and CVI evaluated on either the entire scan or in the central 1500 μm (all p > 0.05). All choroidal vasculature parameters exhibited no significant differences between CHM eyes with and without CSs. Our results suggest that the choroid may not be involved in the development of CSs in patients with CHM.

Highlights

Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by a diffuse, progressive atrophy of the choroid, retinal pigment epithelium (RPE), and retina [1].The exact pathogenesis of the disease has not been completely elucidated
Various factors and mechanisms have been proposed for the onset of Cystoid spaces (CSs) in CHM
We found no significant differences in terms of subfoveal choroidal thickness (CT), choroidal vascularity index (CVI), and all subcomponents (TCA, stromal choroidal area (SCA), and luminal choroidal area (LCA)) between eyes with and without CSs, and this was true for both 6 mm and 1500 μm analyzed choroidal areas

Summary

Introduction

Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by a diffuse, progressive atrophy of the choroid, retinal pigment epithelium (RPE), and retina [1]. The exact pathogenesis of the disease has not been completely elucidated. It is unclear whether the initial events primarily begin in the RPE progressing into the degeneration of the choroid and photoreceptors, or the photoreceptors are involved first, followed by RPE and choroid impairment [1,2]. Patients usually retain good central visual acuity into the fifth decade of life, despite structural alterations of the central retina in the early stage of the disease [5,6].

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Conclusion