Sentences with phrase «erg abnormalities»

ERG abnormalities are evident by 5 — 6 weeks of age and cell degeneration is present by 4 months, suggesting the mutant protein has a toxic gain of function that severely compromises the early stage of development of the photoreceptors.

A recent association study using RPGRIP1 - mutant MLHDs that had either early or late onset cord1 has indeed revealed a second locus that segregates with early - onset disease [52], indicating early onset CRD in MLHDs is more likely to be a digenic condition, and that the RPGRIP1 insertion alone causes a late onset CRD, although ERG abnormalities may be detected early in life.

Not exact matches

My research is focused on the pathophysiology of retinal ganglion cell (RGC) axon damage in glaucoma and detecting early - stage abnormalities by means of non-invasive imaging, psychophysical testing and electrophysiological measures such as electroretinography (ERG) and visually evoked cortical potentials (VEP).

The disease was originally described as an early - onset, autosomal recessive PRA with all affected dogs within an inbred research colony displaying ophthalmologic abnormalities that were detectable by ERG by six weeks of age and 25 weeks by fundoscopy and becoming blind by the time they were 2 years of age [35].