Special Issue "Genetics of Retinal and Vitreoretinal Diseases"

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 30 March 2022.

Special Issue Editors

Prof. Dr. Wolfgang Berger
E-Mail Website
Guest Editor
Institute of Medical Molecular Genetics, University of Zurich, 8006 Zurich, Switzerland
Interests: eye diseases; genetic associations; therapeutic intervention; retinal development and diseases
Prof. Dr. Christina Gerth-Kahlert
E-Mail Website
Guest Editor
Department of Ophthalmology, University Hospital Zurich, 8091 Zurich, Switzerland
Interests: retina; ophthalmology; eye disease; sight; blindness

Special Issue Information

Dear Colleagues,

Mendelian retinal diseases occur at a frequency of about 1 in 2,000 individuals and affect approximately 4 to 5 million people worldwide. The classification of these diseases includes not only stationary and progressive, syndromic and non-syndromic rod- or cone-dominated diseases but also generalized retinal degenerations and vitreoretinal disorders. The number of genes identified to be involved in monogenic or Mendelian traits of the retina has grown to more than 450. The genetic landscape of these diseases provides essential information about the numerous biological and signaling pathways which are involved in disease onset and progression in addition to underlying pathophysiologic mechanisms. Clinical variability and genetic heterogeneity have an important impact on genetic testing. Molecular diagnosis is currently possible in 50%–80% of the patients and families with monogenic forms of retinal diseases.

In addition to improvements in genetic testing, therapeutic interventions become increasingly realistic. Currently, five groups of therapeutic approaches to retinal diseases can be defined. Three of these have already entered the clinic already (gene therapy; neuroprotection and pharmacotherapy; retinal prosthesis) and two were successfully applied in animal models (optogenetics; stem cells and transplantation). The accumulation of our knowledge about genetic diseases of the retina and vitreous will hopefully lead to a more personalized care as well as treatment of an increasing number of patients in the future.

This Special Issue of Genes is dedicated to the molecular basis, clinical consequences, and therapeutic developments in Mendelian diseases of the retina and vitreous.

Examples for topics to be considered:

  • Novel clinical and genetic assessment tools and protocols in Mendelian retinal and vitreoretinal diseases
  • Studies on phenotype–genotype correlations and comparisons
  • Role of copy number variants (CNVs) and single-nucleotide variants (SNVs)
  • Coding and noncoding DNA sequence variants and alterations in retinal diseases
  • Functional characterization of disease-associated sequence variants
  • Epigenetic alterations and mechanisms
  • Genome editing approaches to characterize specific genes and alleles
  • Use of induced pluripotent stem cells (iPSCs) in retinal disease research
  • Retinal organoids and basic research on disease mechanisms
  • Therapeutic approaches (including gene therapy, neuroprotection and pharmacotherapy, optogenetics, stem cells and transplantation)

Prof. Dr. Wolfgang Berger
Prof. Dr. Christina Gerth-Kahlert
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2000 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.


  • Mendelian retinal and vitreoretinal diseases 
  • Clinical and genetic diagnosis 
  • Genetic and epigenetic mechanisms 
  • Genome editing 
  • Induced pluripotent stem cells (iPSCs) 
  • Functional analysis of genetic variants 
  • Therapeutic approaches

Published Papers (1 paper)

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Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients
Genes 2021, 12(6), 812; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12060812 - 26 May 2021
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We genetically characterized 22 Swiss patients who had been diagnosed with Stargardt disease after clinical examination. We identified in 11 patients (50%) pathogenic bi-allelic ABCA4 variants, c.1760+2T>C and c.4496T>C being novel. The dominantly inherited pathogenic ELOVL4 c.810C>G p.(Tyr270*) and PRPH2-c.422A>G p.(Tyr141Cys) variants [...] Read more.
We genetically characterized 22 Swiss patients who had been diagnosed with Stargardt disease after clinical examination. We identified in 11 patients (50%) pathogenic bi-allelic ABCA4 variants, c.1760+2T>C and c.4496T>C being novel. The dominantly inherited pathogenic ELOVL4 c.810C>G p.(Tyr270*) and PRPH2-c.422A>G p.(Tyr141Cys) variants were identified in eight (36%) and three patients (14%), respectively. All patients harboring the ELOVL4 c.810C>G p.(Tyr270*) variant originated from the same small Swiss area, identifying a founder mutation. In the ABCA4 and ELOVL4 cohorts, the clinical phenotypes of “flecks”, “atrophy”, and “bull’s eye like” were observed by fundus examination. In the small number of patients harboring the pathogenic PRPH2 variant, we could observe both “flecks” and “atrophy” clinical phenotypes. The onset of disease, progression of visual acuity and clinical symptoms, inheritance patterns, fundus autofluorescence, and optical coherence tomography did not allow discrimination between the genetically heterogeneous Stargardt patients. The genetic heterogeneity observed in the relatively small Swiss population should prompt systematic genetic testing of clinically diagnosed Stargardt patients. The resulting molecular diagnostic is required to prevent potentially harmful vitamin A supplementation, to provide genetic counseling with respect to inheritance, and to schedule appropriate follow-up visits in the presence of increased risk of choroidal neovascularization. Full article
(This article belongs to the Special Issue Genetics of Retinal and Vitreoretinal Diseases)
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