The retinal pigment epithelium (RPE) is a monolayer of cells, residing at the back of the eye between Bruch's membrane and the retina, which is essential
for photoreceptor function and survival.
A subsequent electroretinography study identified an initial reduction of the
cone photoreceptor function which led to the condition being re-classified as a cone - rod dystrophy (CRD), rather than a rod - led PRA, and the disease was termed CORD1 for cone - rod degeneration 1 [36].
This Clinical Statement provides recommendations for patients with inherited retinal degenerations, which comprise a wide range of genetically and phenotypically heterogeneous diseases associated with progressive loss
of photoreceptor function and visual loss.
«One scenario we have speculated upon is that there are important supportive interactions between horizontal cells and photoreceptors that are required to
maintain photoreceptor function and viability,» Fliesler says.
Although known to have neuronal cell functions STK38L has not previously been associated with
abnormal photoreceptor function; being associated with such a disease in dogs establishes this gene as a potential candidate for similar diseases in other species, including man.
There is growing evidence of the significance of the essential omega - 3 fatty acid family member, docosahexaenoic acid (DHA),
for photoreceptor function and in retinal degenerative diseases, but not much understanding about what governs it.
Subretinal injections of adeno - associated virus vectors expressing RPE65 resulted in restoration of
rod photoreceptor function and improved visual function, first in dogs [61, 62] and subsequently in humans [63 — 65].
Its loss destroys
all photoreceptor function.
The findings from our proposed studies will further define how the RPE supports
the photoreceptor functions via metabolic coupling, and hopefully identify novel druggable targets for preventing RPE and retinal degeneration during AMD.
As a monolayer of cells critical to
photoreceptor function and survival, the RPE is an ideally accessible target for cellular therapy.