The Research Eye Bank at the IVR enables scientists to study common and rare diseases. Scientists at the IVR recently had the first opportunity to characterize eyes from a donor with retinal degeneration due to mutations in the ABCA4 gene. This work, which combined human genetics with histology and state of the art microarray analysis, found that death of photoreceptor cells (rods and cones) occurs in advance of death of the retinal pigment epithelium (RPE). Moreover, gene expression analysis revealed that genes characteristic of inner retinal neurons are preserved, even in eyes with advanced retinal degeneration. These studies suggest that photoreceptor cells are the principal target for protection and replacement, and that cell replacement therapy may be possible even after severe loss of vision.
This report was published in Investigative Ophthalmology and Visual Science 53:1883-94.