Achieving our mission starts with a fundamental understanding of unmet needs in the retinal landscape. By identifying gaps and researching uncharted territory, we adapt our mission to fit the needs of the community.
Age-related macular degeneration (AMD) is the most widespread cause of irreversible loss of visual function, affecting millions of individuals in the United States.1
The macula is a small area in the central portion of the retina responsible for central vision. As AMD progresses, the loss of retinal cells and the underlying blood vessels in the macula results in marked thinning and/or atrophy of retinal tissue. Geographic atrophy (GA), this advanced stage of AMD, can lead to irreversible loss of vision.2
GA lesions can be identified using a variety of retinal imaging techniques. On fundus autofluorescence, GA lesions appear as sharply defined areas of retinal pigment epithelium hypopigmentation, with the underlying choroidal vessels clearly visible.2
On fundus autofluorescence, GA lesions appear as areas of decreased autofluorescence caused by loss of retinal pigment epithelium cells containing intrinsic fluorophores such as lipofuscin.2
On fundus autofluorescence, GA lesions appear as areas of decreased autofluorescence caused by loss of retinal pigment epithelium cells containing intrinsic fluorophores such as lipofuscin.2
On fluorescein angiography, GA lesions appear as well-defined areas of early coloring called "window defects." These are created when retinal pigment epithelium loss enhances the appearance of underlying choroidal vasculature perfused with fluorescein dye.2
On fluorescein angiography, GA lesions appear as well-defined areas of early coloring called "window defects." These are created when retinal pigment epithelium loss enhances the appearance of underlying choroidal vasculature perfused with fluorescein dye.2
On Optical Coherence Tomography (OCT), GA lesions can usually be identified by the loss of outer retinal layers corresponding to the photoreceptors and retinal pigment epithelium.2
On Optical Coherence Tomography (OCT), GA lesions can usually be identified by the loss of outer retinal layers corresponding to the photoreceptors and retinal pigment epithelium.2
A pair of global, prospective, noninterventional, observational studies (Proxima A and B) characterized the visual function decline associated with progression of GA secondary to AMD.3
In both studies, untreated GA secondary to AMD showed a continuous and marked increase in GA lesion size over a 2-year follow-up period.3 At the same time, visual function showed a continuous and marked deterioration.3
The goal of emerging treatments for GA secondary to AMD is to slow the natural progression of lesion growth in order to preserve visual function for as long as possible.
Stargardt disease is the most common form of inherited macular degeneration, with an estimated prevalence of between 1 in 8,000 and 1 in 10,000 individuals.1
The most common form of Stargardt disease is the autosomal recessive form. Autosomal recessive Stargardt disease is caused by mutations in the ABCA4 gene. Affected individuals typically present with bilateral central macular atrophy during childhood, adolescence or early adulthood, which leads to vision loss as affected individuals age and the disease progresses.1
Due to the large number (>900) of genetic variants in the ABCA4 gene that lead to Stargardt disease, the condition is usually different in its presentation.1
On color fundus photography, Stargardt disease lesions typically appear as yellowish-white retinal flecks with concomitant macular atrophy, although these flecks may be slow to develop, resulting in delayed diagnosis.1 On fundus autofluorescence, Stargardt disease lesions appear as flecks of both increased and decreased autofluorescence with central macular hypoautofluorescence surrounded by a "halo" of greater fluorescence signal.1
The multicenter Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) studies have been conducted to characterize the natural history of Stargardt disease.2
In eyes with a confirmed diagnosis of Stargardt disease, atrophic lesions show slow but continuous growth over 12 months, with large lesions showing a somewhat faster rate of growth than small or intermediate-sized lesions.3
Inherited retinal diseases (IRDs) are a genetically heterogeneous group of diseases, with hundreds (>260) of disease-causing genes identified to date.1
Despite their heterogeneity, IRDs share a progressive and visually debilitating clinical course caused by dysfunction in genes that are critical to phototransduction and maintenance of retinal tissue homeostasis.1
Many IRDs are rare and/or orphan conditions, with limited resources allocated to developing treatments capable of modifying the rate of disease progression and/or restoring lost visual function.1