Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)9-22
Number of pages14
JournalGraefe's Archive for Clinical and Experimental Ophthalmology
Issue number1
Early online date15 Oct 2018
Publication statusPublished - 28 Jan 2019
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2018, Springer-Verlag GmbH Germany, part of Springer Nature.

Copyright 2019 Elsevier B.V., All rights reserved.


  • Autosomal recessive disease
  • Foveal hypoplasia
  • Goldmann-Favre
  • NR2E3
  • Retinal dystrophy
  • Retinitis pigmentosa
  • Subretinal drusenoid deposits

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

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