Our group studies disease mechanisms in inherited retinal degenerations (IRDs), and evaluates efficacy and safety of potential treatments. IRDs result in vision loss due to mutations in more than 200 different genes and include diagnoses such as Retinitis Pigmentosa, Stargardt Disease, Leber Congenital Amarousis, and others. There are multitudes of different pathological mechanisms resulting from different mutations. Our group uses non-invasive tests to link changes in retinal structure and function to underlying molecular pathology. We also develop and evaluate novel outcome measures for use in clinical trials.
April 22, 2019: Proctor Award lecture published in IOVS
Leber congenital amaurosis (LCA) is a group of monogenic inherited retinal diseases that typically show early onset and severe visual dysfunction. Given effective treatments, a subset of LCA patients can be predicted to have the potential for improvement of vision. In the Proctor Award lecture, modern techniques of noninvasive examination are discussed for two LCA subtypes, the ciliopathy of CEP290-LCA (also known as LCA10) and the phototransduction defect of GUCY2D-LCA (also known as LCA1).
Cideciyan AV, Jacobson SG. Leber Congenital Amaurosis (LCA): Potential for improvement of Vision. Investigative Ophthalmology & Visual Science, 60(5):1680-1695. [PubMed]
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