Retinal Diseases: Cellular and Molecular Mechanisms

Dear Colleagues,

Inherited retinal diseases, such as inherited retinal diseases (IRDs), inherited optic neuropathy, inherited glaucoma, and common retinal diseases such as age-related macular degeneration (AMD), are major causes of vision loss worldwide. Although genetic studies, including whole-exome sequencing (WES), whole-genome sequencing (WGS), and genome-wide association studies (GWAS), have identified numerous disease-associated mutations and risk variants, the functional consequences of these variants at the cellular and molecular levels remain largely unexplored. Understanding these mechanisms is essential for elucidating disease pathogenesis and for developing potential therapeutic strategies.

This Special Issue aims to collect the latest studies that link genetic and molecular findings with cellular and functional insights in retinal biology. We welcome contributions that investigate how disease-causing mutations or risk variants affect retinal cell function, signaling pathways, and disease progression, using cellular and animal models.

Original research articles and reviews are welcome. Topics may include, but are not limited to: genetic risk factors and mutations in retinal diseases, GWAS, functional characterization of variants, retinal cell signaling, apoptosis, autophagy, oxidative stress, cellular metabolism, neurodegeneration, and identification of potential therapeutic targets.

We look forward to receiving your contributions.

Dr. Yang Pan
Dr. Takeshi Iwata
Guest Editors

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