ABSTRACT
The authors wish to make a correction to the published version of their paper [...].
ABSTRACT
Mutations in BEST1 cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD), AD vitreo-retino-choroidopathy (ADVIRC), and retinitis pigmentosa-50 (RP50). A rare subtype of Bestrophinopathy exists with biallelic mutations in BEST1. Its frequency is estimated to be 1/1,000,000 individuals. Here we report 6 families and searched for a genotype-phenotype correlation. All patients were referred due to reduced best-corrected visual acuity (BCVA), ranging from 0.1/10 to 3/10. They all showed vitelliform lesions located at the macula, sometimes extending into the midperiphery, along the vessels and the optic disc. Onset of the disease varied from the age of 3 to 25 years. Electrooculogram (EOG) revealed reduction in the EOG light rise in all patients. Molecular analysis revealed previously reported mutations p.(E35K);(E35K), p.(L31M);(L31M), p.(R141H);(A195V), p.(R202W);(R202W), and p.(Q220*);(Q220*) in five families. One family showed a novel mutation: p.(E167G);(E167G). All mutations were heterozygous in the parents. In one family, heterozygous children showed various reductions in the EOG light rise and autofluorescent deposits. Autosomal recessive Bestrophinopathy (ARB), although rare, can be recognized by its phenotype and should be validated by molecular analysis. Genotype-phenotype correlations are difficult to establish and will require the analysis of additional cases.
Subject(s)
Eye Diseases, Hereditary , Retinal Diseases , Adolescent , Adult , Bestrophins/genetics , Child , Electrooculography , Electroretinography , Eye/physiopathology , Eye Diseases, Hereditary/diagnosis , Eye Diseases, Hereditary/genetics , Eye Diseases, Hereditary/physiopathology , Female , Genetic Association Studies , Humans , Male , Mutation , Pedigree , Retinal Diseases/diagnosis , Retinal Diseases/genetics , Retinal Diseases/physiopathology , Young AdultSubject(s)
Giant Cell Arteritis , Steroids , Temporal Arteries , Biopsy , Humans , Steroids/therapeutic use , Temporal Arteries/pathologyABSTRACT
Evidence from epidemiological studies indicates that acute exposure to airborne pollutants is associated with an increased risk of morbidity and mortality attributed to cardiovascular diseases. The present study investigated the effects of combustion-derived ultrafine particles (diesel exhaust particles) as well as engineered nanoparticles (titanium dioxide and single-walled carbon nanotubes) on impulse conduction characteristics, myofibrillar structure and the formation of reactive oxygen species in patterned growth strands of neonatal rat ventricular cardiomyocytes in vitro. Diesel exhaust particles as well as titanium dioxide nanoparticles showed the most pronounced effects. We observed a dose-dependent change in heart cell function, an increase in reactive oxygen species and, for titanium dioxide, we also found a less organized myofibrillar structure. The mildest effects were observed for single-walled carbon nanotubes, for which no clear dose-dependent alterations of theta and dV/dt(max) could be determined. In addition, there was no increase in oxidative stress and no change in the myofibrillar structure. These results suggest that diesel exhaust as well as titanium dioxide particles and to a lesser extent also single-walled carbon nanotubes can directly induce cardiac cell damage and can affect the function of the cells.
