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 Usher syndrome, X-linked retinoschesis, corneal dystrophy, glaucoma, and X-linked familial exudative vitreoretinopathy. We are currently recruiting families with autosomal recessive retinitis pigmentosa and Bietti syndrome in preparation for study of this important group of diseases. The effects of specific genetic alterations, including myosin 7A and the Ush2A, gene on the visual process are being studied. Finally, families with multiple individuals affected by glaucoma and elevated intraocular pressure are being recruited to study the genes affecting these complex diseases.

Agency
National Institute of Health (NIH)
Institute
National Eye Institute (NEI)
Type
Intramural Research (Z01)
Project #
1Z01EY000272-08
Application #
6106843
Study Section
Special Emphasis Panel (OGCS)
Project Start
Project End
Budget Start
Budget End
Support Year
8
Fiscal Year
1998
Total Cost
Indirect Cost
Name
U.S. National Eye Institute
Department
Type
DUNS #
City
State
Country
United States
Zip Code
Li, Lin; Chen, Yabin; Jiao, Xiaodong et al. (2017) Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. Invest Ophthalmol Vis Sci 58:2218-2238
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Zhang, Qingjiong; Xiao, Xueshan; Li, Shiqiang et al. (2007) Mutations in NYX of individuals with high myopia, but without night blindness. Mol Vis 13:330-6

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