Research Topic

Genetic Mutations Associated with Ocular Diseases

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About this Research Topic

Recent research indicates that many hereditary eye diseases affect ocular cells and tissues, such as congenital glaucoma, cataract, Peters anomaly, aniridia, and anterior segment dysgenesis, retinitis pigmentosa, congenital night blindness, Oguchi disease, fundus albipunctatus, Stargardt’s disease, X-linked ...

Recent research indicates that many hereditary eye diseases affect ocular cells and tissues, such as congenital glaucoma, cataract, Peters anomaly, aniridia, and anterior segment dysgenesis, retinitis pigmentosa, congenital night blindness, Oguchi disease, fundus albipunctatus, Stargardt’s disease, X-linked retinoschisis, Best’s disease, Leber’s congenital amaurosis and Usher syndrome. Often, these diseases are caused by mutations encoding many different signaling and structural proteins. The devastating effects of these diseases are high as they are often associated with several comorbidities leading to a poor quality of life. Although genetic mutations for some of those diseases have been already identified, such as Pax6, CYP1B1, PitX2, the mechanisms regulating the development of ocular diseases are not fully understood.

In this Research Topic, we welcome researchers to contribute with Original Research and Review articles with in vitro or in vivo data, as well as clinical studies, to address the mechanisms by which genetic factors and protein molecules regulate ocular disorders. The following topics are particularly welcome:

• The potential role of genetic mutations in eye disease and studies on signaling pathways regulated by these genes.
• Novel mutations/biomarkers for eye diseases.
• Therapeutic interventions for genetic eye disorders.

Please note that descriptive genetic studies will not be considered for review unless they provide mechanistic insights in genetic eye disorders.


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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