Long-term follow-up of an amblyopia treatment study: change in visual acuity 15 years after occlusion therapy

Purpose: To determine change in visual acuity (VA) in the population of a previous amblyopia treatment study (Loudon 2006) and assess risk factors for VA decrease. Methods: Subjects treated between 2001 and 2003 were contacted between December 2015 and July 2017. Orthoptic examination was conducted under controlled circumstances and included subjective refraction, best corrected VA, reading acuity, binocular vision, retinal fixation, cover-uncover and alternating cover test. As a measure for degree of amblyopia, InterOcular VA Difference (IOD) at the end of occlusion therapy was compared with IOD at the follow-up examination using Wilcoxon’s signed-rank test. Regression analysis was conducted to determine the influence of clinical and socio-economic factors on changes in IOD. Results: Out of 303 subjects from the original study, 208 were contacted successfully, 59 refused and 15 were excluded because of non-amblyopic cause of visual impairment. Mean IOD at end of therapy (mean age 6.4 years) was 0.11 ± 0.16 logMAR, and IOD at follow-up examination (mean age 18.3 years) was 0.09 ± 0.21 logMAR; this difference was not significant (p = 0.054). Degree of anisometropia (p = 0.008; univariable analysis), increasing anisometropia (p = 0.009; multivariable), eccentric fixation (p < 0.001; univariable and multivariable); large IOD (p < 0.001; univariable and multivariable) and non-compliance during therapy (p = 0.028; univariable) were associated with IOD increase. Conclusion: Long-term results of occlusion therapy were good. High or increasing anisometropia, eccentric fixation and non-compliance during occlusion therapy were associated with long-term VA decrease. Subjects with poor initial VA had a larger increase despite little patching, but often showed long-term VA decrease

Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: A cohort study

Primary immunodeficiency disorders are a recognized public health problem worldwide. The prototype of these conditions is X-linked agammaglobulinemia (XLA) or Bruton's disease. XLA is caused by mutations in Bruton's tyrosine kinase gene (BTK), preventing B cell development and resulting in the almost total absence of serum immunoglobulins. The genetic profile and prevalence of XLA have not previously been studied in Eastern and Central European (ECE) countries. We studied the genetic and demographic features of XLA in Belarus, Croatia Hungary, Poland, Republic of Macedonia, Romania, Russia, Serbia, Slovenia, and Ukraine. We collected clinical, immunological, and genetic information for 122 patients from 109 families. The BTK gene was sequenced from the genomic DNA of patients with a high susceptibility to infection, almost no CD19(+) peripheral blood B cells. and low or undetectable levels of serum immunoglobulins M, G, and A, compatible with a clinical and immunological diagnosis of XLA. BTK sequence analysis revealed 98 different mutations, 46 of which are reported for the first time here. The mutations included single nucleotide changes in the coding exons (35 missense and 17 nonsense), 23 splicing defects, 13 small deletions, 7 large deletions, and 3 insertions. The mutations were scattered throughout the BTK gene and most frequently concerned the SH1 domain: no missense mutation was detected in the SH3 domain. The prevalence of XLA in ECE countries (total population 145,530,870) was found to be 1 per 1,399,000 individuals. This report provides the first comprehensive overview of the molecular genetic and demographic features of XLA in Eastern and Central Europe. (C) 2009 Elsevier Ltd. All rights reserved