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 corneal fleck dystrophy, retinal dystrophies including autosomal retinitis pigmentosa, FEVR, snowflake vitreoretinal degeneration, and Bietti crystalline dystrophy, myopia,and glaucoma. We are currently recruiting families with these diseases to join our ongoing projects. The effects of specific genetic alterations, including the CYP4V2, FTL, and KCNJ13 genes on the visual process are being studied. Finally, we are particularly interested in diseases with complex inheritance, and 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 #
1Z01EY000272-17
Application #
7594051
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
17
Fiscal Year
2007
Total Cost
$2,228,362
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; Zulfiqar, Fareeha; Xiao, Xueshan et al. (2007) Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene. Hum Genet 122:293-9
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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