In this webinar, Giacomo Calzetti, MD, Ophthalmologist, Institute of Molecular and Clinical Ophthalmology Basel (IOB), presented his latest findings on retinal oxygen metabolic function in CHM.
Choroideremia has the clinical features of a rod-first disease, meaning that loss of rod function predominates early in the disease course, similar to what occurs in retinitis pigmentosa. However, more pronounced degeneration of the choroid is evident in choroideremia than in typical retinitis pigmentosa, suggesting different pathogenetic mechanisms.
Using noninvasive retinal oximetry, we found that the retina in choroideremia is a relatively hypoxic environment, which is the opposite of what we found in retinitis pigmentosa. The decrease in hemoglobin oxygen saturation in the retina could be secondary to choroidal degeneration, resulting in reduced blood flow and oxygen supply to the retina.
The study of ocular O 2 and blood flow may be important for understanding the pathogenetic mechanisms of choroideremia. Indeed, the impact of alterations in these parameters onvisual function, retinal degeneration, and retinal remodeling is unknown. These findings may provide useful details to inform the planning of clinical trials of emerging therapies for
choroideremia.