Inherited Ocular Diseases

$1,800,034ZIAFY2025EYNIH

National Eye Institute

Investigators

Linked publications & trials

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Abstract

Study of inherited visual diseases provides a means by which both normal and aberrant visual processes might be understood. In addition to directly elucidating the pathophysiology of the inherited disease under study, these studies can provide insights into the structure-function relationships of the molecular components of the visual system and their normal physiology. This laboratory is using a number of approaches to study inherited visual diseases affecting the visual system. One approach to understanding inherited visual diseases uses principles of positional cloning to identify genes important in human inherited diseases. Human diseases currently undergoing linkage analysis, gene isolation, or characterization of mutations include corneal dystrophies including snowflake vitreoretinal degeneration and Bietti crystalline dystrophy, myopia, retinal dystrophies, and glaucoma. We are currently recruiting families with these diseases to join our ongoing projects. The effects of specific genetic alterations, including the CYP4V2, CLCC1, ZNF513, ZNF480, LEMD2, FOXO4, FOXO3, and KCNJ13 genes on the visual process are being studied. Finally, we are particularly interested in diseases with complex inheritance, are utilizing our own data sets as well as public data sets available through dbGAP and All of Us to study the genes contributing to these complex diseases.

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