Description of Research Expertise

Dr. Cideciyan’s primary research interests involve understanding of disease mechanisms in human hereditary retinal degenerations and evaluation of mechanism-specific treatments in these blinding conditions. This is accomplished by the use of non-invasive surrogate measures of biochemical and morphological abnormalities of the retina and the RPE. Knowledge obtained from human retinopathies is also used to glean molecular foundations of normal human vision. Furthermore, studies performed in parallel with non-invasive experimental methods in animal models of these human diseases are used to determine the correspondence between the models and the patients, and pre-clinical therapeutic strategies are tested as appropriate.

Research methods of the laboratory include imaging, electrophysiology and psychophysics as well as mathematical modeling and software development. Optical coherence tomography (OCT) based methods are used to define retinal structure and light scatter characteristics; autofluorescence imaging based methods are used to elucidate RPE abnormalities; electroretinogram (ERG) photoresponses and psychophysical methods are used understand global and local rod and cone photoreceptor dysfunction; and pupillary imaging is used to define post-retinal visual function.

Key Words
Retinal degeneration, retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), photoreceptors, visual cycle, rhodopsin, autofluorescence, lipofuscin, melanin, optical coherence tomography, dark adaptation, electroretinography, pupilometry, ABCA4, ABCR, CEP290, GUCY2D, RHO, RPGR, RPE65