Inherited Ocular Diseases

Hejtmancik, James F.

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 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.

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: National Eye Institute (NEI)
• Type: Intramural Research (Z01)
• Project #: 1Z01EY000272-17
• Application #: 7594051
• Support Year: 17
• Fiscal Year: 2007
• Total Cost: $2,228,362

Institution

• Name: U.S. National Eye Institute
• Country: United States

Publications

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

Li, David; Jin, Chongfei; Jiao, Xiaodong et al. (2014) AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration. Mol Vis 20:1-14

Ali, Manir; McKibbin, Martin; Booth, Adam et al. (2009) Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet 84:664-71

Cortes, Lizette M; Mattapallil, Mary J; Silver, Phyllis B et al. (2008) Repertoire analysis and new pathogenic epitopes of IRBP in C57BL/6 (H-2b) and B10.RIII (H-2r) mice. Invest Ophthalmol Vis Sci 49:1946-56

Hejtmancik, J Fielding; Jiao, Xiaodong; Li, Anren et al. (2008) Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. Am J Hum Genet 82:174-80

Hejtmancik, J Fielding (2008) Congenital cataracts and their molecular genetics. Semin Cell Dev Biol 19:134-49

Chan, May P; Dolinska, Monika; Sergeev, Yuri V et al. (2008) Association properties of betaB1- and betaA3-crystallins: ability to form heterotetramers. Biochemistry 47:11062-9

Li, Ningdong; Wang, Liming; Cui, Lihong et al. (2008) Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus. Mol Vis 14:733-8

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