Abstract

BackgroundRetinal dystrophies display a considerably wide range of phenotypic variability, which can make diagnosis and clinical staging difficult. The aim of the study is to analyze the contribution of retro-mode imaging (RMI) and fundus autofluorescence (FAF) to the characterization of retinal dystrophies.MethodsEighteen consecutive patients affected by retinal dystrophies underwent a complete ophthalmological examination, including best corrected visual acuity with ETDRS charts, blue-light fundus autofluorescence, (BL-FAF), near-infrared fundus autofluorescence (NIR-FAF), and RMI. The primary outcome was the identification of abnormal patterns on RMI. The secondary outcome was the correlation with the findings on BL-FAF and NIR-FAF.ResultsOverall, the main feature of RMI is represented by a pseudo-3D pattern of all the lesions at the posterior pole. More specifically, any accumulation of material within the retina appears as an area of elevation of different shape and size, displaying irregular and darker borders. No precise correlations between RMI, BL-AF, and NIR-AF imaging was found.ConclusionsRMI and FAF appear to be useful tools for characterizing retinal dystrophies. Non-invasive diagnostic tools may yield additional information on the clinical setting and the monitoring of the patients.

Highlights

  • Retinal dystrophies display a considerably wide range of phenotypic variability, which can make diagnosis and clinical staging difficult

  • The aim of the present study is to describe patterns typical of retinal dystrophies on retro-mode imaging (RMI), and to compare them with the findings obtained on FAF

  • Autosomal recessive Stargardt disease-fundus flavimaculatus The 5 patients affected by STGD1 included 4 females and 1 male, with ages ranging from 22 to 67 years, and Best-corrected visual acuity (BCVA) from 20/50 to 20/400

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Summary

Introduction

Retinal dystrophies display a considerably wide range of phenotypic variability, which can make diagnosis and clinical staging difficult. The aim of the study is to analyze the contribution of retro-mode imaging (RMI) and fundus autofluorescence (FAF) to the characterization of retinal dystrophies. A peculiar trait of retinal dystrophies is their considerable range of phenotypic variability, which sometimes makes diagnosis and clinical staging difficult. The study of clinical features and morpho-functional correlations of the retinal dystrophies has greatly improved. Retro-mode imaging (RMI) has recently been shown to offer the best method of outlining the distinctive clinical features of several chorio-retinal disorders [4,5,6,7,8].

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