Special Issue "Genetics of Retinal and Vitreoretinal Diseases"
Deadline for manuscript submissions: 30 March 2022.
Interests: eye diseases; genetic associations; therapeutic intervention; retinal development and diseases
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
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