Genetics of Retinal and Vitreoretinal Diseases

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

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