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 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.

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: National Eye Institute (NEI)
• Type: Investigator-Initiated Intramural Research Projects (ZIA)
• Project #: 1ZIAEY000272-19
• Application #: 7968294
• Support Year: 19
• Fiscal Year: 2009
• Total Cost: $1,623,105

Institution

• Name: U.S. National Eye Institute

Publications

Biswas, Pooja; Naeem, Muhammad Asif; Ali, Muhammad Hassaan et al. (2018) Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree. Adv Exp Med Biol 1074:219-228

Li, Lin; Jiao, Xiaodong; D'Atri, Ilaria et al. (2018) Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet 14:e1007504

Branham, Kari; Guru, Aditya A; Kozak, Igor et al. (2018) Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two Pedigrees. Adv Exp Med Biol 1074:229-236

Li, Jiali; Jiao, Xiaodong; Zhang, Qingjiong et al. (2017) Association and interaction of myopia with SNP markers rs13382811 and rs6469937 at ZFHX1B and SNTB1 in Han Chinese and European populations. Mol Vis 23:588-604

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

Biswas, Pooja; Duncan, Jacque L; Ali, Muhammad et al. (2017) A mutation in IFT43 causes non-syndromic recessive retinal degeneration. Hum Mol Genet 26:4741-4751

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

Biswas, Pooja; Chavali, Venkata Ramana Murthy; Agnello, Giulia et al. (2016) A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration. Hum Mol Genet 25:2483-2497

Ma, Zhiwei; Yao, Wenliang; Chan, Chi-Chao et al. (2016) Human ?A3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells. Biochim Biophys Acta 1862:1214-27