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Graefe's Archive for Clinical and Experimental Ophthalmology
Published in: Graefe's Archive for Clinical and Experimental Ophthalmology 1/2019

01-01-2019 | Retinal Disorders

Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy

Authors: Vittoria Murro, Dario Pasquale Mucciolo, Andrea Sodi, Ilaria Passerini, Dario Giorgio, Gianni Virgili, Stanislao Rizzo

Published in: Graefe's Archive for Clinical and Experimental Ophthalmology | Issue 1/2019

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Abstract

Purpose

To evaluate the clinical phenotype of autosomal recessive NR2E3-related retinal dystrophy.

Methods

We retrospectively studied 11 patients carrying out at least 2 NR2E3 mutations; they had undergone comprehensive ophthalmological examination, fundus photography, optical coherence tomography, electrophysiological testing, and visual field at the Regional Reference Center for Hereditary Retinal Degenerations of the Eye Clinic in Florence.

Results

Five females and six males with a diagnosis of NR2E3-related retinal dystrophy were included in the study. All patients complained of nyctalopia. Visual acuity ranged from 0.00 logMAR to hand motion. Two patients presented bull’s eye maculopathy, and one of these was characterized by a triple hyper-autofluorescent ring at the fundus autofluorescence examination. Three patients showed small yellowish dots and spots at the mid-periphery. One patient was characterized by widespread subretinal drusenoid deposits (SDD) at the posterior pole. Four patients showed vitreous abnormalities. Optical coherence tomography (OCT) examinations detected variable degrees of abnormal retinal lamination and schitic changes. Seven patients were compound heterozygous and four were homozygous for mutations in NR2E3.

Conclusions

Our study confirmed high variable phenotype in autosomal recessive NR2E3-related retinal dystrophy. Bull’s eye maculopathy, subretinal drusenoid deposits, and foveal hypoplasia represent novel clinical findings in NR2E3-related retinal dystrophy. Macular involvement was detectable in all the patients, and the abnormal foveal avascular zone (FAZ) supports the role of NR2E3 in retinal development.
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Metadata
Title
Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy
Authors
Vittoria Murro
Dario Pasquale Mucciolo
Andrea Sodi
Ilaria Passerini
Dario Giorgio
Gianni Virgili
Stanislao Rizzo
Publication date
01-01-2019
Publisher
Springer Berlin Heidelberg
Published in
Graefe's Archive for Clinical and Experimental Ophthalmology / Issue 1/2019
Print ISSN: 0721-832X
Electronic ISSN: 1435-702X
DOI
https://doi.org/10.1007/s00417-018-4161-z

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