The sequencing of the human genome and the advent of new sequencing technologies have led to wide advances in our understanding of the heritability and predisposition to common diseases. Defining the genetic basis of heritable conditions has improved our ability to counsel patients about family planning and expected disease course. However, up until the last several years, few treatment options were available. In ophthalmology, improved understanding of eye development and ocular genetics has sparked the development of novel ways to treat debilitating eye disease. Due to its unique qualities and ease of access, the eye has led to new paradigms in gene therapy, stem cell-based therapy, and targeted pharmacological therapy.

Our understanding of the genetic predisposition to complex traits, such as glaucoma and macular degeneration, is helping to uncover the pathogenesis of these common disorders and develop novel therapeutic strategies. An understanding of disease heritability has become essential to routine ophthalmic practice, as basic practice components from refractive error from intraocular pressure have a clear hereditary basis. Despite these advances, much remains to be determined about the genes and pathways involved in the development and function of the eye.

The aim of this Special Issue is to collate high quality research, clinical, and review articles that address the recent advances in the genetics of Mendelian and complex eye disorders, and the heritability of ocular traits. We will solicit manuscripts in all areas of inherited eye conditions, including corneal and anterior segment diseases, glaucoma, retinal disorders, and eyelid and orbital conditions.

Potential topics include but are not limited to the following:

• Association studies and genetic susceptibility of complex ocular traits
• Case series or familial reports of syndromic and isolated ocular conditions
• Genetic basis of ocular conditions
• Genotype-phenotype correlation studies
• In vitro and animal models of inherited ocular disease
• Therapeutic trials or series for gene therapy, stem cell-based therapy, or targeted pharmacological therapy
• Mechanistic basis of inherited disorders
• Legal and ethical issues surrounding genetic testing and genetic diagnosis