0000000000076672
AUTHOR
Concepción Vilela
Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments
The most common mutation in the USH2A gene (Usherin), 2299delG, causes both typical Usher (USH) syndrome type II and atypical USH syndrome, two autosomal recessive disorders, characterised by moderate to severe sensorineural hearing loss and retinitis pigmentosa (RP). Furthermore, the C759F mutation in the USH2A gene has been described in 4.5% of patients with nonsyndromic recessive RP. We have investigated the presence of the 2299delG and/or the C759F mutations in 191 unrelated Spanish patients with different syndromic and nonsyndromic retinal diseases, or with nonsyndromic hearing impairment. The 2299delG mutation was observed in patients with clinical signs of USHII or of atypical USH sy…
Serum vitamin E levels negatively correlate with severity of age-related macular degeneration.
Age-related macular degeneration (AMD) pathogenesis has been related to UV radiation and other factors that may promote increased oxidative damage to the retina. Patients with different AMD grading (n = 25) were compared with an age-matched group of AMD-free subjects (n = 15), both groups older than 60 years. A modification of the AMD grading system is proposed that allows patient grading and not single eye grading. AMD patients showed statistically significant lower serum levels of vitamin E and Zn than AMD-free subjects. Moreover, a negative correlation (Spearman's correlation coefficient r = -0.815, P < 0.001) could be established between AMD grading of both the patients' eyes and serum …
Similar effect of family history of psychosis on Sylvian fissure size and auditory P200 amplitude in schizophrenic and bipolar subjects.
Several cerebral studies point to the non-specificity of structural and functional changes described in schizophrenia and bipolar disorders. Furthermore, the origin of these changes is still unclear. The present study investigated the effect of a family history (FH) of psychotic disorders in first-degree relatives on computed tomographic (CT) measures (ventricular, cerebral and Sylvian fissure size) and auditory event-related potentials (amplitudes and latencies of peak components in oddball paradigms) in 30 schizophrenic patients and 24 bipolar type I patients. We found a significant correlation between FH and the size of the right Sylvian fissure, and between FH and auditory P200 amplitud…
Retinal function assessment in alcohol use disorder patients
Objective. Retinal injury induced by ethanol consumption has been previously reported in animal models, including biochemical, histological and functional alterations. These results need to be clinically tested in alcoholic patients which do not report several systemic or ophthalmic diseases. Methods. Six patients with alcohol use disorder were recruited from an ‘Alcoholism Treatment Unit’. All of them with active alcohol consumption when the study was conducted or that had stopped drinking six months prior to the study, with no ocular disease or visual acuity alterations. All patients underwent fundus photography, optical coherence tomography (OCT) as well as visual field test. Electrophys…