Insights into Heritability of Glaucoma and Other Optic Neuropathies

Dear Colleagues,

Glaucoma is an insidious group of diseases causing degeneration of the optic nerve and progressive loss of vision. More than 80 million individuals have glaucoma as of 2020, making it the leading cause of irreversible blindness worldwide. However, despite its high prevalence, the pathophysiology of this familial disease remains poorly understood. There is only one treatable component of this disease (elevated intraocular pressure), and approximately 30% of patients continue to worsen despite treatment. This suggests that glaucoma—which has a strong genetic component—has additional disease mechanisms that could provide further therapeutic targets once elucidated. Such discoveries could also aid in the development of risk models and improved screening efforts, as more than half of glaucoma patients are unaware of their diagnosis.

Many other optic neuropathies also lead to irreversible loss of vision. In some optic neuropathies, optic nerve dysfunction is heritable, based on familial expression or genetic analysis. These optic neuropathies can be caused by mutations in nuclear or mitochondrial genes, and may reflect many different inheritance patterns. Better understanding of the genetic architecture of these optic neuropathies can inform presymptomatic testing and risk assessment, development of more targeted therapies, and genetic counselling of patients.

The purpose of this Special Issue is to publish original research papers describing the heritability of glaucoma and other optic neuropathies, including the genetic, molecular, and functional pathways associated with these diseases. We are interested in papers that elucidate the mechanisms associated with disease biology, ranging from basic scientific discoveries to large-scale genetic analyses. Other topics of interest include the evaluation of disease risk factors, biomarker analyses, and gene risk score models. Papers that investigate sub-phenotypes of glaucoma and optic neuropathies associated with genetic variation, as well as correlations with disease progression and severity, are also encouraged.

Prof. Joan M. O'Brien
Guest Editor

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