Expanding the clinical phenotypes of MT-ATP6 mutations.

Mitochondrial DNA mutations at MT-ATP6 gene are relatively common in individuals suffering from striatal necrosis syndromes. These patients usually do not show apparent histochemical and/or biochemical signs of oxidative phosphorylation dysfunction. Because of this, MT-ATP6 is not typically analyzed in many other mitochondrial disorders that have not been previously associated to mutations in this gene. To correct this bias, we have performed a screening of the MT-ATP6 gene in a large collection of patients suspected of suffering different mitochondrial DNA (mtDNA) disorders. In three cases, biochemical, molecular-genetics and other analyses in patient tissues and cybrids were also carried out. We found three new pathologic mutations. Two of them in patients showing phenotypes that have not been commonly associated to mutations in the MT-ATP6 gene. These results remark the importance of sequencing the MT-ATP6 gene in patients with striatal necrosis syndromes, but also within other mitochondrial pathologies. This gene should be sequenced at least in all those patients suspected of suffering an mtDNA disorder disclosing normal results for histochemical and biochemical analyses of respiratory chain.

Evaluation of visual outcomes and patient satisfaction after implantation of a diffractive trifocal intraocular lens.

PURPOSE: To evaluate clinical outcomes after the implantation of a diffractive trifocal intraocular lens (IOL). SETTING: Nine European ophthalmology centers. DESIGN: Prospective noncomparative interventional multicenter study. METHODS: The trifocal diffractive AT LISA tri 839MP IOL was implanted in eyes with bilateral cataract. Monocular and binocular visual performance was assessed as was the level of perceived photic phenomena, patient satisfaction, and spectacle dependence 1 month and 3 months postoperatively. RESULTS: The IOL was implanted in 208 eyes of 104 patients. The mean binocular uncorrected distance visual acuity improved from 0.44 logMAR ± 0.30 (SD) to 0.02 ± 0.10 logMAR and 0.03 ± 0.09 logMAR at 1 month and 3 months, respectively (P < .01). The mean binocular uncorrected intermediate visual acuity (80 cm) improved from 0.51 ± 0.30 logMAR to 0.09 ± 0.13 logMAR and 0.10 ± 0.15 logMAR at 1 month and 3 months, respectively (P < .01). The mean binocular uncorrected near visual acuity improved from 0.67 ± 0.31 logMAR to 0.16 ± 0.14 logMAR and 0.15 ± 0.14 logMAR, respectively (P < .01). Among the more frequently perceived photic phenomena were halos; however, approximately 75% of patients were not bothered by them. More than 90% of patients were satisfied with the outcome. Spectacle independence at all distances was higher than 90%. CONCLUSION: This IOL provided excellent visual outcomes and high refractive predictability at all distances, including intermediate, leading to high levels of patient satisfaction and spectacle independence. FINANCIAL DISCLOSURE: No author has a financial or proprietary interest in any material or method mentioned.