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.

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National Eye Institute (NEI)
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Ullah, Inayat; Kabir, Firoz; Iqbal, Muhammad et al. (2016) Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases. Mol Vis 22:797-815
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
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 :
Hejtmancik, J Fielding; Nickerson, John M (2015) Overview of the Visual System. Prog Mol Biol Transl Sci 134:1-4
Hejtmancik, J Fielding; Nickerson, John M (2015) Preface. Prog Mol Biol Transl Sci 134:xix-xx
Ali, Shahbaz; Khan, Shahid Y; Naeem, Muhammad Asif et al. (2015) Phenotypic variability associated with the D226N allele of IMPDH1. Ophthalmology 122:429-31
Maranhao, Bruno; Biswas, Pooja; Gottsch, Alexander D H et al. (2015) Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing. PLoS One 10:e0136561
Dubey, Sushil K; Hejtmancik, James F; Krishnadas, Subbaiah R et al. (2015) Evaluation of Genetic Polymorphisms in Clusterin and Tumor Necrosis Factor-Alpha Genes in South Indian Individuals with Pseudoexfoliation Syndrome. Curr Eye Res :1-7
Chassine, Thomas; Bocquet, Béatrice; Daien, Vincent et al. (2015) Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia. Br J Ophthalmol 99:1360-5
Naeem, Muhammad Asif; Gottsch, Alexander D H; Ullah, Inayat et al. (2015) Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness. Mol Vis 21:1261-71

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