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 congenital and primary open angle glaucoma and elevated intraocular pressure as well as autoimmune diseases are being recruited to study the genes affecting these complex diseases.

National Institute of Health (NIH)
National Eye Institute (NEI)
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Jiang, Jingjing; Wu, Xiaofei; Shen, Di et al. (2017) Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa. Sci Rep 7:44465
Jiao, Xiaodong; Li, Anren; Jin, Zi-Bing et al. (2017) Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy. Eur J Hum Genet 25:461-471
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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Kabir, Firoz; Ullah, Inayat; Ali, Shahbaz et al. (2016) Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. Mol Vis 22:610-25
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Xue, Min; Zheng, Jie; Zhou, Qing et al. (2015) Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome. BMC Med Genet 16:73
Chassine, Thomas; Bocquet, BĂ©atrice; Daien, Vincent et al. (2015) Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia. Br J Ophthalmol 99:1360-5
Khan, Shahid Y; Ali, Shahbaz; Naeem, Muhammad Asif et al. (2015) Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families. Mol Vis 21:871-82

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