Inherited Retinal Dystrophies: A light at the end of the tunnel?

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Background

Non-syndromic inherited retinal dystrophies (IRDs) are a group of diseases that affect photoreceptors and retinal pigment epithelium in the retina. Common IRDs include retinitis pigmentosa (RP), Leber Congenital Amaurosis (LCA), and choroideremia (CHM). These IRDs are progressive, frequently clinically and genetically heterogeneous and usually lead to legal blindness. To date, at least 280 genes are known to be responsible for IRDs. However, after the study of these known genes, and even whole exome sequencing, 30-50% of patients remain undiagnosed. Furthermore, accurate genotype-phenotype correlations remain incomplete for many mutations, which can limit disease prognosis. New animal models and the growing use of knock-in mouse models with human mutations has improved our understanding of retinal pathology. Currently, there are several therapeutic approaches to treat IRD, the administration of drugs to avoid inflammation and oxidative stress, the use of antisense oligonucleotides or gene therapy among others. Advances in genome editing, such as CRISPR and in vivo base editing, has created hope for potential gene correction.

The main problem of inherited retinal diseases is the great clinical complexity that makes the diagnosis difficult. The progressive nature of most cases challenges the correct clinical diagnosis as age and severity of symptoms in each patient is a dependent factor. Additionally, the genetic diagnosis is complex with over 280 genes responsible for IRD which solves only 60% of cases. Next generation sequencing has been a great advance in the genetic diagnosis of IRDs but in many cases, variants of unknown significance are found, so there is a need of functional studies in cell and animal models to know the pathogenic nature of these variants. Finally, there is a lack of treatment for IRD. However, many preclinical studies and clinical trials are ongoing. This article collection intends to address recent advances in clinical diagnostics and clinical genetics, functional studies in animal models of IRD, and the current and developing approaches to therapy.

This collection welcomes articles regarding the complexity of the clinical aspects, the genetics, the pathogenesis and the search for therapies of high quality for IRD. Therefore, the subtopics that will be addressed in this collection are the following:

• Clinical heterogeneity and clinical overlapping
• Genetic diagnosis
• Pathophysiology
• Animal models and functional studies
• Therapeutic approaches and clinical trials

Keywords: Inherited Retinal Dystrophies, photoreceptor degeneration

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