Diagnosis and Treatment of Inherited Retinal Degenerations

Inherited retinal degenerations (IRDs) are some of the most common hereditary causes of progressive vision loss. The biggest current challenge is finding a therapeutic approach that can change the natural history of these diseases. Nevertheless, therapy research cannot prescind from the awareness of the genetic and clinical heterogeneity of IRDs. For example, about a hundred different genetic defects responsible for retinitis pigmentosa (RP) have been described. Different mutations in various critical genes give rise to different subtypes of the disease, each associated with different clinical presentations and prognoses. For this reason, we can no longer speak of “retinitis pigmentosa” as a single pathology. Instead, we should include it as an IRD, a large group of retinal diseases sharing several clinical features. Therefore, the correct scientific approach to IRDs is to consider the many different molecular targets towards which research should be directed.

The purpose of this Special Issue is to discuss the genetic and medical diagnostic criteria for IRDs (and RP in particular), as well as to explore the wide spectrum of clinical signs associated with the different retinal degeneration subtypes. We are especially interested in examining any clinical features, including anamnestic, ophthalmoscopic, and electro functional findings, that may provide clinicians with useful “diagnostic pearls”. Lastly, we encourage scientific debates about therapeutic targets for IRDs.

Prof. Dr. Enzo Maria Vingolo
Dr. Laura Contento
Guest Editors

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