Retinitis pigmentosa (RP) is a group of degenerative disorders of the retina that leads to serious visual disability or total blindness in its victims. To increase our understanding of these diseases, we propose a series of investigations in patients with RP using broad field imaging fundus reflectometry (IFR). IFR, an improved version of a traditional technique, permits noninvasive objective measurement of visual pigments in rod and cone photoreceptors across wide areas of retina. With IFR, new subtypes of autosomal dominantly inherited RP have recently been identified. These """"""""photochemical subtypes"""""""" are likely to differ in pathogenesis and eventually in treatment. Our intent is to use IFR to study the largest and least well understood group of RP patients, simplex or isolate RP. First, we will determine whether there are photochemical differences among patients in this group. Second, in a subset of these patients who have no detectable electroretinogram, IFR will be used to measure change in visual pigment levels in different retinal regions over a two year period. Natural history data will thus be obtained in RP patients in whom there would otherwise be no objective means to monitor the progress of their disease or the effect of treatment.

Agency
National Institute of Health (NIH)
Institute
National Eye Institute (NEI)
Type
Research Project (R01)
Project #
5R01EY005627-03
Application #
3260854
Study Section
Visual Sciences A Study Section (VISA)
Project Start
1986-09-01
Project End
1989-08-31
Budget Start
1988-09-01
Budget End
1989-08-31
Support Year
3
Fiscal Year
1988
Total Cost
Indirect Cost
Name
University of Miami School of Medicine
Department
Type
Schools of Medicine
DUNS #
City
Miami
State
FL
Country
United States
Zip Code
33101
Scilley, Kay; Jackson, Gregory R; Cideciyan, Artur V et al. (2002) Early age-related maculopathy and self-reported visual difficulty in daily life. Ophthalmology 109:1235-42
Thompson, Debra A; McHenry, Christina L; Li, Yun et al. (2002) Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively. Am J Hum Genet 70:224-9
Liang, F Q; Aleman, T S; Dejneka, N S et al. (2001) Long-term protection of retinal structure but not function using RAAV.CNTF in animal models of retinitis pigmentosa. Mol Ther 4:461-72
Owsley, C; Jackson, G R; Cideciyan, A V et al. (2000) Psychophysical evidence for rod vulnerability in age-related macular degeneration. Invest Ophthalmol Vis Sci 41:267-73
Freund, C L; Gregory-Evans, C Y; Furukawa, T et al. (1997) Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 91:543-53
Kelley, P M; Weston, M D; Chen, Z Y et al. (1997) The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A). Genomics 40:73-9
Weston, M D; Kelley, P M; Overbeck, L D et al. (1996) Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. Am J Hum Genet 59:1074-83
Hood, D C; Cideciyan, A V; Roman, A J et al. (1995) Enhanced S cone syndrome: evidence for an abnormally large number of S cones. Vision Res 35:1473-81
Kemp, C M; Jacobson, S G; Cideciyan, A V et al. (1994) RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function. Invest Ophthalmol Vis Sci 35:3154-62
Li, Z Y; Jacobson, S G; Milam, A H (1994) Autosomal dominant retinitis pigmentosa caused by the threonine-17-methionine rhodopsin mutation: retinal histopathology and immunocytochemistry. Exp Eye Res 58:397-408

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