We seek to identify one or more genes important in the genesis of some forms of hereditary retinal degeneration in humans. For this project, we have obtained blood samples from over 1300 patients with some form of inherited retinal disease, with particular emphasis on patients with autosomal dominant, autosomal recessive, or the """"""""isolate"""""""" form of retinitis pigmentosa. Included in this collection are affected and unaffected relatives from a number of pedigrees with two or more affected individuals. This collection is, to the best of our knowledge, an unrivaled genetic material (DNA) derived from this set of blood sample will allow studies aimed at identifying the genes involved in these diseases and subsequently characterizing the mechanism of action, ancestral origin, and DNA sequence of the responsible mutations. The experiments that we wish to perform are based on the """"""""candidate gene approach"""""""". We hypothesize that a gene coding for a structural or a functional protein important in the physiology of photoreceptors may be defective or absent in patients in the physiology of photoreceptors may be defective or absent in patients with retinitis pigmentosa or other inherited retinal degenerations. The genes corresponding to some of these candidate proteins, such as interphotoreceptor retinoid-binding protein, various transducing subunits, subunits of cyclic-GMP phosphodiesterase, S- antigen, mitochondrial proteins, and rhodopsin, have been isolated by other investigators or by the project laboratory. We intend to use molecular genetics techniques to determine whether mutations of one or more of the candidate genes play a role in some hereditary retinal degeneration.

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National Eye Institute (NEI)
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Mammalian Genetics Study Section (MGN)
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Harvard University
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McGee, Terri L; Seyedahmadi, Babak Jian; Sweeney, Meredith O et al. (2010) Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. J Med Genet 47:499-506
den Hollander, Anneke I; McGee, Terri L; Ziviello, Carmela et al. (2009) A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci 50:1864-72
Hartong, Dyonne T; McGee, Terri L; Sandberg, Michael A et al. (2009) Search for a correlation between telomere length and severity of retinitis pigmentosa due to the dominant rhodopsin Pro23His mutation. Mol Vis 15:592-7
Sandberg, Michael A; Rosner, Bernard; Weigel-DiFranco, Carol et al. (2008) Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Invest Ophthalmol Vis Sci 49:5532-9
Hartong, Dyonne T; Dange, Mayura; McGee, Terri L et al. (2008) Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle. Nat Genet 40:1230-4
Malm, Eva; Ponjavic, Vesna; Nishina, Patsy M et al. (2008) Full-field electroretinography and marked variability in clinical phenotype of Alstrom syndrome. Arch Ophthalmol 126:51-7
Iannaccone, Alessandro; Tedesco, Salvatore A; Gallaher, Kevin T et al. (2007) Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene. Doc Ophthalmol 115:111-6
Sweeney, Meredith O; McGee, Terri L; Berson, Eliot L et al. (2007) Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa. Mol Vis 13:588-93
Thiagalingam, Sureka; McGee, Terri L; Weleber, Richard G et al. (2007) Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram. Ophthalmic Genet 28:135-42
Hartong, Dyonne T; Pott, Jan-Willem R; Kooijman, Aart C (2007) Six patients with bradyopsia (slow vision): clinical features and course of the disease. Ophthalmology 114:2323-31

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