The results, revealing that the ONH size is larger in LHON carriers than in LHON-affected, suggest a protective role for this anatomic trait. Such a hypothesis is reinforced by the observation that, among the LHON-affected, larger discs correlated with visual recovery and better visual outcome. The findings may be relevant for prognosis and provide a mechanism for identifying nuclear-modifying genes implicated in the variability of penetrance in LHON.
AimsTo determine prevalence of pterygium, its role as main cause of unilateral and bilateral visual impairment and blindness and its impact on refractive errors from adults living in a high ultraviolet exposure area in the Brazilian Amazon Region.MethodsCluster sampling was used in randomly selecting subjects ≥45 years of age from urban and rural areas of Parintins city. Eligible subjects were enumerated through a door-to-door household survey and invited for an eye exam including refraction. Pterygium was assessed considering location (nasal, temporal or both) and size (<3 mm or ≥3 mm reaching or not pupillary margin).ResultsA total of 2384 persons were enumerated and 2041 (85.6%) were examined. Prevalence of pterygium was 58.8% (95% CI 53.8% to 63.7%) and associated with male gender (OR=1.63; 95% CI 1.37 to 1.94; p=0.001), while higher education was a protective factor (OR=0.63; 95% CI 0.44 to 0.92; p=0.018). Older age and rural residence were associated with pterygium ≥3 mm reaching or not pupillary margin, while higher education was a protective factor for pterygium ≥3 mm reaching pupillary margin. Prevalence of pterygium as cause of visual impairment and blindness was 14.3% and 3.9%, respectively. Significantly higher hyperopic refractive errors were found in eyes with pterygium ≥3 mm reaching or not pupillary margin.ConclusionsPterygium was highly prevalent and the second cause of visual impairment and blindness after provision of refractive correction. Risk factors for pterygium were male gender, advanced age, lower education and rural residency. Strategies to provide pterygium early detection and proper management should be considered by healthcare authorities in this population.
In a large cohort of children with CVI, variable severity of VEP GAD was found, with more than half of the children with severe deficits. Older children and those under anti-seizure therapy were at higher risk for larger deficits. Strabismus and nystagmus provided larger IADs. These results should be taken into account on the clinical management of children with this leading cause of bilateral visual impairment.
OBJECTIVE:Bardet-Biedl syndrome is a genetic, multisystem disorder that causes severe visual impairment. This condition is characterized by retinal dystrophy, obesity, digit anomalies, renal disease, and hypogonadism. The purpose of this study was to analyze visual acuity and full-field electroretinogram findings in patients with the Bardet-Biedl syndrome phenotype.METHODS:The visual acuity of a group of 23 patients (15 males) with ages ranging from 6-36 years (mean = 15.8±6.4; median = 14.7) was assessed. Retinal function was evaluated by full-field electroretinography, and dark-adapted thresholds were assessed.RESULTS:Visual acuity in the better-seeing eye was 20/40 or better in 5 patients (21.7%), 20/50-20/150 in 13 (56.5%) patients, 20/200-20/400 in 2 (8.7%) patients and worse than 20/400 in one (4.3%) patient. The mean acuity in the better-seeing eye was 0.7±0.6 logMAR (20/100, Snellen equivalent). Scotopic rod and maximal responses were non-detectable in 21 (91.3%) patients, and cone responses were non-detectable in 15 (65.2%) patients. Elevated dark-adapted visual thresholds were observed in all 19 patients who were able to be assessed, with 10 (52.6%) patients having thresholds greater than 30 dB.CONCLUSIONS:In a relatively young cohort of patients with Bardet-Biedl syndrome, only 21% had 20/40 or better vision. ERG scotopic responses were absent in the majority of cases, with cone responses being observed in less than half of cases. These findings showed the early deleterious effects in retinal function and visual acuity caused by this condition.
In our study, all patients with the NCL phenotype had abnormal ERG findings, and the majority exhibited both cone-rod and rod-cone dysfunction. We conclude that ERG is a valuable tool for the characterization of visual dysfunction in patients with the NCL phenotype and is useful for diagnosis.
We are able to demonstrate that the PhNR amplitude is significantly decreased in patients affected by LHON compared to carriers in a well-described pedigree. Surprisingly, there was also a decrease in PhNR in carriers, suggesting potential subclinical RGC dysfunction in some carriers. This is important in patients affected with LHON who typically have a dense central scotoma. The PhNR may be a useful objective outcome measure for future clinical trials.
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