Retinitis pigmentosa (RP) comprises a group of inherited retinal dystrophies characterized
by the degeneration of rod photoreceptors, followed by the degeneration of cone …

Inherited retinal diseases (IRD) are a leading cause of blindness in the working age
population and children. The scope of this review is to familiarise clinicians and scientists …

Stargardt macular dystrophy (Stargardt disease; STGD1; OMIM 248200) is the most
prevalent inherited macular dystrophy. STGD1 is an autosomal recessive disorder caused …

Inherited forms of blindness and deafness are highly prevalent and severe conditions that
significantly impact the lives of millions of people worldwide. The lack of therapeutic options …

Gene therapies, despite of being a relatively new therapeutic approach, have a potential to
become an important alternative to current treatment strategies in glaucoma. Since …

In recent years, several splice switching antisense oligonucleotide (ASO)-based
therapeutics have gained significant interest, and several candidates received approval for …

The retinoic acid-inducible gene I (RIG)-I-like receptor (RLR) family of RNA sensor proteins
plays a key role in the innate immune response to viral nucleic acids, including viral gene …

The high allelic heterogeneity in Stargardt disease (STGD1) complicates the design of
intervention strategies. A significant proportion of pathogenic intronic ABCA4 variants alters …

Precision medicine is rapidly gaining recognition in the field of (ultra) rare conditions, where
only a few individuals in the world are affected. Clinical trial design for a small number of …

Inherited retinal dystrophies (IRDs) are genetic disorders that lead to the bilateral
degeneration of the retina, causing irreversible vision loss. These conditions often manifest …