Molecular Diagnosis and Disease Mechanisms in Rare Genetic Eye Disease

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About this Research Topic

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Background

Over 500 genes are known to cause rare genetic eye diseases. Genomic ophthalmology is advancing the molecular diagnostic yield for patients and broadening our understanding of these conditions. Whole genome sequencing has helped to identify new variants including deep intronic and non-coding regulatory changes. With the expansion of these genotypes, we can now begin to establish clearer genotype-phenotype correlations to guide prognosis and accurate management of patients through a multidisciplinary team approach. Disease models are used to validate novel variants and dissect disease mechanisms, which goes on to reveal therapeutic targets for pre-clinical testing.

In this Research Topic, we will highlight the use of genomics and disease models for advancing our knowledge of genetic eye diseases and showcase disease mechanisms and preclinical therapeutics that may shape future ophthalmic care of rare disorders. Increasing diagnostic yield has led to improved genetic counselling and family planning options for families. The field of therapeutics has led to the first approved retinal gene therapy, voretigene neparovec. There are many gene therapy trials in the pipeline and novel approaches to treating these disorders including targeting common disease pathways and creating mutation-specific gene- and cell replacement strategies.

Within this Research Topic we would welcome Original Research articles and Reviews focused on the following themes:
1. The use of genomics to further diagnostics of genetic eye diseases
2. Genotype-phenotype correlations and natural history studies of genetic eye diseases
3. The use of disease models (cellular and animal) to explore the role of ocular genes in disease and consequent disease mechanisms
4. Preclinical therapeutics that show promise for the future translation to patients with genetic eye disease

Please note that Case Reports are also welcomed if they report new causal genes, if they report a completely unexpected phenotype, or if they are accompanied by extensive functional data (cell- or animal-based).

Keywords: Genetics, eye, retina, inherited retinal disease, genomics, ophthalmology, childhood cataracts, developmental glaucoma, anterior segment dysgenesis, ocular maldevelopment, inherited optic neuropathy, retinal pigment epithelium

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