Not exact matches
PRA is caused by the
degeneration of the
photoreceptor cells, rods and
cones, which are needed for dark and day light vision, respectively.
Genetic defects cause
photoreceptor degeneration, which are majorly classified into rod -
cone dystrophy called retinitis pigmentosa (rods initially degenerate, followed by
cone degeneration),
cone - rod dystrophy (
cone degeneration, followed by rod
degeneration), and Leber congenital amaurosis (LCA).
The illness occurs when a DNA mutation within one of the genes affects the normal ocular development or induces
photoreceptor — the
cones and rods -
degeneration.
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].
Most valuable was the tissue sample from a 15 - year old Stage - 3 retina with distinct regions of varying disease severity (Fig. 4B): Small islands of relatively normal appearing retina (Fig. 4B1) were surrounded by large areas of advanced retinal
degeneration with loss of both rod and
cone photoreceptors (Fig. 4B2).