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Multimodal Assessment of Structure and Function in Inherited Retinal Degenerations


Inherited retinal degenerations (IRDs) affect approximately 1:4,000 people worldwide and are currently the leading cause of vision loss of people between the ages of 15-45. The mechanisms of degeneration in many IRDs remain unclear. It is vital to establish relationships between retinal structural and functional measures in order to better understand the relationship between the genetic mutations and the phenotypes they cause in these diseases. For example, retinitis pigmentosa (RP), the most prevalent IRD, and choroideremia (CHM), an X-linked degeneration that affects choroidal, RPE and photoreceptor cells, both progress over time due to rod, then cone, photoreceptor loss. Greater understanding of disease progression may clarify the underlying mechanisms of retinal degenerations. Furthermore, the development of novel outcome measures could accelerate clinical trials of treatments designed to treat these relentless, sight-threatening diseases. The experiments and research described in this document use multimodal state-of-the-art, novel, high-resolution techniques in addition to standard technologies used in the clinical setting to study the relationship between structure and function of the retina including rod and cone photoreceptors, retinal pigment epithelium, choriocapillaris and other retinal layers affected in the eyes of patients with retinal degeneration.

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