| Hereditary Diseases and Electrophysiology of the Retina
Ronald E. Carr M.D.
Professor
Department of Ophthalmology |
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| Research Summary |
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We combine clinical research in hereditary diseases of the retina and basic studies on how the retina operates. Over several years, we have amassed a patient group with a large number of hereditary retinal degenerations with major emphasis on retinitis pigmentosa and allied disorders and hereditary macular degenerations. To diagnose and categorize these various disorders, we draw from a wide range of psychophysical and electrophysiologic tests of retinal function, including dark adaptation, retinal sensitivity profiles, full-field and focal electroretinography, electro-oculography, and visually evoked responses. We are also involved with a group of molecular geneticists who have a strong interest in gene localization studies in patients with autosomal dominant and x-linked recessive retinal disorders.
At a more basic level, we assess in humans all three cone systems both psychophysically and electrophysiologically. Using normal values, we are beginning to understand the initial pathologic abnormalities in certain photoreceptor diseases and more accurately follow their pathologic sequences.
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| Related Images |
Image 1 | Denaturing gradient gel electrophoresis on DNA extracted from family members showing presence of heteroduplex formation with DNA from those individuals who inherited the mutant allele. Pedigree noted above. | | |
| Research Information |
Research Interests | Hereditary Diseases and Electrophysiology of the Retina | Research Keywords | hereditary retinal diseases, macular degeneration, retina, retinitis pigmentosa |
