Visual impairment and ophthalmic diseases are among the world’s major public health problems, with increasing prevalence due to the ageing of the population. Hence, it is important for both researchers and eye care specialists to improve the understanding of causal risk factors and biological mechanisms underlying eye diseases.
Eye diseases comprise a heterogeneous group of disorders affecting the visual system at many different levels. Ophthalmic disorders can be classified by their age at onset, for example congenital (microphthalmia, coloboma), early-onset (school myopia), or later stage of human life (age-related macular degeneration). Many eye diseases are complex traits resulting from the actions of (or interaction between) multiple genetic variants and environmental factors. Genome-wide association studies (GWAS) are designed to investigate and quantify genetic variant–disease associations. Indeed, the first major GWAS success was the discovery in 2005 of the association of the CFH locus with age-related macular degeneration.
Recent advances in genetics and genomics have led to the identification of hundreds of new genetic variants and genes associated with an increased risk of eye diseases. However, further genetic studies should provide additional information regarding the biological and physiological mechanisms responsible for the development of ophthalmic diseases.
The aim of the current Research Topic is to gain further knowledge about the biological pathways underlying eye diseases development; this may lead to improved health advice to reduce the risk of ophthalmic disorders and for the identification of new genes that may serve as treatment targets.
This Research Topic welcomes Original Research and Review submissions covering, but not limited to, the following topics:
• Genome-wide association studies addressing genetic susceptibility to complex ophthalmic diseases
• Case series or familial reports of syndromic ocular conditions
• Whole-exome or whole-genome sequence analyses targeted at ocular conditions
• New insights on gene-environment interactions that contribute to eye diseases
• Novel findings on the molecular basis of ophthalmic diseases
All submissions must be within the journal's scope with respect to case reports.
Visual impairment and ophthalmic diseases are among the world’s major public health problems, with increasing prevalence due to the ageing of the population. Hence, it is important for both researchers and eye care specialists to improve the understanding of causal risk factors and biological mechanisms underlying eye diseases.
Eye diseases comprise a heterogeneous group of disorders affecting the visual system at many different levels. Ophthalmic disorders can be classified by their age at onset, for example congenital (microphthalmia, coloboma), early-onset (school myopia), or later stage of human life (age-related macular degeneration). Many eye diseases are complex traits resulting from the actions of (or interaction between) multiple genetic variants and environmental factors. Genome-wide association studies (GWAS) are designed to investigate and quantify genetic variant–disease associations. Indeed, the first major GWAS success was the discovery in 2005 of the association of the CFH locus with age-related macular degeneration.
Recent advances in genetics and genomics have led to the identification of hundreds of new genetic variants and genes associated with an increased risk of eye diseases. However, further genetic studies should provide additional information regarding the biological and physiological mechanisms responsible for the development of ophthalmic diseases.
The aim of the current Research Topic is to gain further knowledge about the biological pathways underlying eye diseases development; this may lead to improved health advice to reduce the risk of ophthalmic disorders and for the identification of new genes that may serve as treatment targets.
This Research Topic welcomes Original Research and Review submissions covering, but not limited to, the following topics:
• Genome-wide association studies addressing genetic susceptibility to complex ophthalmic diseases
• Case series or familial reports of syndromic ocular conditions
• Whole-exome or whole-genome sequence analyses targeted at ocular conditions
• New insights on gene-environment interactions that contribute to eye diseases
• Novel findings on the molecular basis of ophthalmic diseases
All submissions must be within the journal's scope with respect to case reports.
