The relationship between BCMO1 gene variants and macular pigment optical density in persons with and without age-related macular degeneration

Background: Recent evidence indicates that gene variants related to carotenoid metabolism play a role in the uptake of macular pigments lutein (L) and zeaxanthine (Z). Moreover, these pigments are proposed to reduce the risk for advanced age-related macular degeneration (AMD). This study provides the initial examination of the relationship between the gene variants related to carotenoid metabolism, macular pigment optical density (MPOD) and their combined expression in healthy humans and patients with AMD. Participants and Methods: Forty-four participants were enrolled from a general population and a private practice including 20 healthy participants and 24 patients with advanced (neovascular) AMD. Participants were genotyped for the three single nucleotide polymorphisms (SNPs) upstream from BCMO1, rs11645428, rs6420424 and rs6564851 that have been shown to either up or down regulate beta-carotene conversion efficiency in the plasma. MPOD was determined by heterochromatic flicker photometry. Results: Healthy participants with the rs11645428 GG genotype, rs6420424 AA genotype and rs6564851 GG genotype all had on average significantly lower MPOD compared to those with the other genotypes (p < 0.01 for all three comparisons). When combining BCMO1 genotypes reported to have “high” (rs11645428 AA/rs6420424 GG/rs6564851 TT) and “low” (rs11645428 GG/rs6420424 AA/rs6564851 GG) beta-carotene conversion efficiency, we demonstrate clear differences in MPOD values (p<0.01). In patients with AMD there were no significant differences in MPOD for any of the three BCMO1 gene variants. Conclusion: In healthy participants MPOD levels can be related to high and low beta-carotene conversion BCMO1 genotypes. Such relationships were not found in patients with advanced neovascular AMD, indicative of additional processes influencing carotenoid uptake, possibly related to other AMD susceptibility genes. Our findings indicate that specific BCMO1 SNPs should be determined when assessing the effects of carotenoid supplementation on macular pigment and that their expression may be influenced by retinal disease

Tonometers and infectious risk: myth or reality? Efficacy of different disinfection regimens on tonometer tips.

Purpose To evaluate the adequacy of common disinfection regimens for disposable tonometer tips and assess if disinfection of reusable prisms or the use of disposable tips is preferable. Methods We used disposable tonometer tips, using the same material and tip diameter of standard Goldmann tonometer prism. Strains of Pseudomonas aeruginosa, Staphylococcus aureus, Bacillus subtilis and Candida albicans were tested according to the European standard guidelines for disinfectants test. Antimicrobial effectiveness of the following disinfection practices has been assessed: dry wipe, Minuten wipes (Alpros), soaking in 3% hydrogen peroxide, 0.5% benzalkonium chloride, and 0.5% Pantasepts for 1, 5, and 15 min. All tests have been performed three times and all conditions tested in duplicate. Results Dry wiping and 1 min soak in 3% hydrogen peroxide were ineffective on all microrganisms. Minuten wipes, 1 min soak in 0.5% benzalkonium chloride or 3% hydrogen peroxide were ineffective on B. subtilis. 0.5% Pantasepts soak was effective in 1 min for all microrganisms tested, whereas 3% hydrogen peroxide and 0.5% benzalkonium chloride soaks were effective when performed for at least 5 min. B. subtilis was the most resistant organism to disinfectant regimes at 1 min time. Conclusions Results of our study demonstrate a relative disinfection efficacy for the different evaluated regimens, provided that correct exposure times are adopted for the chosen disinfectants, a condition difficult to ensure in a busy clinic setting. We conclude that disposable prism tonometry provides a safe alternative to Goldmann tonometry

Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study

Acyl-CoA oxidase (ACOX1) deficiency is a rare disorder of peroxisomal very-long chain fatty acid oxidation. No reports detailing attempted treatment, longitudinal imaging, or neuropathology exist. We describe the natural history of clinical symptoms and brain imaging in two siblings with ACOX1 deficiency, including the younger sibling's response to allogeneic unrelated donor hematopoietic stem cell transplantation (HSCT). We conducted retrospective chart review to obtain clinical history, neuro-imaging, and neuropathology data. ACOX1 genotyping were performed to confirm the disease. In vitro fibroblast and neural stem cell fatty acid oxidation assays were also performed. Both patients experienced a fatal neurodegenerative course, with late-stage cerebellar and cerebral gray matter atrophy. Serial brain magnetic resonance imaging in the younger sibling indicated demyelination began in the medulla and progressed rostrally to include the white matter of the cerebellum, pons, midbrain, and eventually subcortical white matter. The successfully engrafted younger sibling had less brain inflammation, cortical atrophy, and neuronal loss on neuro-imaging and neuropathology compared to the untreated older sister. Fibroblasts and stem cells demonstrated deficient very long chain fatty acid oxidation. Although HSCT did not halt the course of ACOX1 deficiency, it reduced the extent of white matter inflammation in the brain. Demyelination continued because of ongoing neuronal loss, which may be due to inability of transplant to prevent progression of gray matter disease, adverse effects of chronic corticosteroid use to control graft-versus-host disease, or intervention occurring beyond a critical point for therapeutic efficac