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Retinal dystrophies with bull’s-eye maculopathy along with negative ERGs

  • F. NasserEmail author
  • A. Kurtenbach
  • S. Kohl
  • C. Obermaier
  • K. Stingl
  • E. Zrenner
Original Research Article
  • 56 Downloads

Abstract

Purpose

The aim of this study was to examine the ophthalmological characteristics and genotypes of patients with congenital retinal pathologies, who display a bull’s-eye maculopathy in the fundus, along with a negative scotopic electroretinogram.

Methods

We analysed the results of five patients showing both a bull’s-eye maculopathy, as well as a negative scotopic ERG evoked by a bright flash. Their median age was 39 years (range 11–63 years): three males and two females. All underwent a comprehensive examination with determination of distant visual acuity (ETDRS) and recording of the full-field ERG (scotopic and photopic). Fundus, OCT, and FAF images were obtained, the kinetic visual field was determined, and colour vision (D-15) was tested in most patients. Targeted gene panel sequencing was performed on peripheral blood.

Results

One patient carried a homozygous ABCA4 mutation and an additional heterozygous variant in CRX. Two of the five patients were shown to have a heterozygous mutation in the CRX gene, one of whom had an additional heterozygous ABCA4 mutation. Two patients had the common heterozygous mutation c.2413G>A;p.Arg838His in GUCY2D. In all of the patients, there was a reduction in the amplitude of the b-wave with a regular a-wave amplitude in the scotopic bright-flash ERG.

Conclusions

The five patients with bull’s-eye maculopathy along with a negative ERG had differing genotypes. Mutations were found in the CRX gene (2 patients), the ABCA4 gene (1 patient), and the GUCY2D gene (2 patients).

Keywords

Phenotype Genotype Bull’s-eye maculopathy Negative ERG 

Notes

Acknowledgements

We thank Dr. Kaoru Fujinami for his assistance.

Funding

The study was supported by grants from the German Research Council (DFG Excellence Center EXC307) to EZ, and from the Tistou and Charlotte Kerstan Foundation to FN and AK.

Compliance with ethical standards

Conflict of interest

All authors certify that they have no affiliations with or involvement in any organisation or entity with any financial interest (such as honoraria; educational grants; participation in speakers’ bureaus; membership, employment, consultancies, stock ownership, or other equity interest; and expert testimony or patent-licensing arrangements), or non-financial interest (such as personal or professional relationships, affiliations, knowledge or beliefs) in the subject matter or materials discussed in this manuscript.

Statements of human rights

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.

Statement on the welfare of animals

This article does not contain any studies with animals performed by any of the authors.

Informed consent

Written informed consent was obtained from all adult patients and parents/guardians of minors.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Centre for OphthalmologyUniversity of TuebingenTübingenGermany
  2. 2.Werner Reichardt Centre for Integrative Neuroscience (CIN)University of TübingenTübingenGermany
  3. 3.Praxis fuer Humangenetik TübingenTübingenGermany
  4. 4.University Eye HospitalTübingenGermany

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