A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.

Purpose: To identify the causes of autosomal dominant retinitis pigmentosa (adRP) in a cohort of families without mutations in known adRP genes and consequently to characterize a novel dominant-acting missense mutation in SAG.

Methods: Patients underwent ophthalmologic testing and were screened for mutations using targeted-capture and whole-exome next-generation sequencing. Confirmation and additional screening were done by Sanger sequencing.

Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.

Importance: Screening for splice site mutation c.828+3A>T in the peripherin 2 (PRPH2) gene should be a high priority in families with highly variable retinal dystrophies. The correction of missplicing is a potential therapeutic target.

On the ultrasonic degradation of Rhodamine B in water: kinetics and operational conditions effect.

The aim of this present study was to investigate the degradation of Rhodamine B (RhB) in aqueous solution under the influence of ultrasound irradiation. An ultrasonic reactor was used to investigate the effect of different operational parameters such as dye initial concentration, ultrasound power, pH and electrical conductivity. The results showed an increase in decolourization rate with decreasing pH, but colour removal efficiency decreased with increasing initial dye concentration.

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Purpose: To survey families with clinical evidence of autosomal dominant retinitis pigmentosa (adRP) for mutations in genes known to cause adRP.

Methods: Two hundred adRP families, drawn from a cohort of more than 400 potential families, were selected by analysis of pedigrees. Minimum criteria for inclusion in the adRP cohort included either evidence of at least three generations of affected individuals or two generations with evidence of male-to-male transmission.

Quantitative assessment of aqueous flare: the effect of age and pupillary dilation.

Objective: To assess the effect of age and pupillary dilation on aqueous flare.

Methods: In this study, 100 eyes of 100 patients ranging in ages from 23 to 84 years were examined. Anterior chamber flare was measured before and after pupillary dilation using the Kowa laser flare meter (FM-500).