INTRODUCTION Retinitis pigmentosa is clinically characterized by loss of predominantly rod photoreceptor function as well as loss of peripheral vision. The classic clinical triad is considered to be the presence of bone spicule pigmentation in the peripheral retina, arteriolar attenuation, and waxy disc pallor. Cataracts, most commonly of the posterior subcapsular type, are often found in all f...

Aim: To establish a useful and objective classification for retinitis pigmentosa (RP) to evaluate the disease severity. Methods: This is retrospective cross-sectional study. Visual acuity (VA), visual field (VF) width, ellipsoid zone width on optic cohorence tomography (OCT) multifocal electroretinography (mf ERG) values were obtained from medical records of patients with RP. A scoring criterio...

A mutation in a cyclic nucleotide-gated channel (CNGA1) is associated with retinitis pigmentosa (RP), a common, inherited eye disease. Expression of mutant (CNGA1-RP) homomeric channels in Xenopus oocytes revealed no measurable differences compared to wild-type CNGA1 homomers. As native retinal rod CNG channels comprise CNGA1 and CNGB1 subunits, we coexpressed CNGA1-RP and CNGB1. Surprisingly, ...

The time course of rod dark adaptation was measured in 12 patients and carriers of retinitis pigmentosa (RP). In contrast to previous studies the rod absolute threshold was determined prior to any exposure to the bleaching light. For seven of the patients and carriers the recovery of rod sensitivity to the prebleach level was prolonged, with the delay ranging from mild to severe. The prolongati...

Precursor messenger RNA (Pre-mRNA) splicing is an essential biological process in eukaryotic cells. Genetic mutations in many spliceosome genes confer human eye diseases. Mutations in the pre-mRNA splicing factor, RP9 (also known as PAP1), predispose autosomal dominant retinitis pigmentosa (adRP) with an early onset and severe vision loss. However, underlying molecular mechanisms of the RP9 mut...

Retinitis pigmentosa (RP) is a common hereditary eye disease that causes blindness due to a progressive loss of photoreceptors in the retina. RP can be elicited by mutations that affect the tri-snRNP subunit of the pre-mRNA splicing machinery, but how defects in this essential macromolecular complex transform into a photoreceptor-specific phenotype is unknown. We have modeled the disease in zeb...

PURPOSE To compare psychophysical Naka-Rushton parameters in retinitis pigmentosa (RP) patients and healthy controls using a flash-on-flash increment threshold paradigm, and to measure changes of these parameters with RP progression. METHODS Sixty-six RP patients and 10 normal subjects were tested, and their maximum response (Rmax), half-saturation intensity (sigma), and slope (n) parameters ...

PURPOSE To compare psychophysical impulse response parameters in retinitis pigmentosa (RP) patients and healthy controls using a temporal contrast sensitivity threshold paradigm, and to measure changes in these parameters with RP progression. METHODS Sixty-six RP patients and 10 healthy control subjects were tested, and the amplitude and timing parameters of the psychophysical impulse respons...

A retinitis pigmentosa (RP) population (268 eyes) had predominantly myopic refractive errors. Whereas 12% of a normal population have myopic refractions, myopia was found in 75% of 268 eyes of RP patients and in 95% of 41 eyes of X-linked RP patients. The spherical errors describe a single-peaked, skewed distribution, with a mean of -1.86 dioptres that is significantly (P less than 0.001) more ...

We compare the known retinitis pigmentosa (RP) mutations in rhodopsin with mutational data obtained for the complement factor 5a receptor (C5aR), a member of the rhodopsin-like family of G protein-coupled receptors (GPCRs). We have performed genetic analyses that define residues that are required for C5aR folding and function. The cognate residues in rhodopsin are not preferentially mutated in ...