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1.
Brain ; 134(Pt 9): 2677-86, 2011 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-21788663

RESUMEN

Major advances in understanding the pathogenesis of inherited metabolic disease caused by mitochondrial DNA mutations have yet to translate into treatments of proven efficacy. Leber's hereditary optic neuropathy is the most common mitochondrial DNA disorder causing irreversible blindness in young adult life. Anecdotal reports support the use of idebenone in Leber's hereditary optic neuropathy, but this has not been evaluated in a randomized controlled trial. We conducted a 24-week multi-centre double-blind, randomized, placebo-controlled trial in 85 patients with Leber's hereditary optic neuropathy due to m.3460G>A, m.11778G>A, and m.14484T>C or mitochondrial DNA mutations. The active drug was idebenone 900 mg/day. The primary end-point was the best recovery in visual acuity. The main secondary end-point was the change in best visual acuity. Other secondary end-points were changes in visual acuity of the best eye at baseline and changes in visual acuity for both eyes in each patient. Colour-contrast sensitivity and retinal nerve fibre layer thickness were measured in subgroups. Idebenone was safe and well tolerated. The primary end-point did not reach statistical significance in the intention to treat population. However, post hoc interaction analysis showed a different response to idebenone in patients with discordant visual acuities at baseline; in these patients, all secondary end-points were significantly different between the idebenone and placebo groups. This first randomized controlled trial in the mitochondrial disorder, Leber's hereditary optic neuropathy, provides evidence that patients with discordant visual acuities are the most likely to benefit from idebenone treatment, which is safe and well tolerated.


Asunto(s)
Antioxidantes/uso terapéutico , Atrofia Óptica Hereditaria de Leber/tratamiento farmacológico , Placebos , Ubiquinona/análogos & derivados , Adolescente , Adulto , Anciano , Antioxidantes/farmacología , Sensibilidad de Contraste/efectos de los fármacos , ADN Mitocondrial/genética , Método Doble Ciego , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mutación , Atrofia Óptica Hereditaria de Leber/fisiopatología , Estudios Prospectivos , Retina/ultraestructura , Ubiquinona/farmacología , Ubiquinona/uso terapéutico , Agudeza Visual/efectos de los fármacos , Adulto Joven
2.
Clin Exp Optom ; 96(5): 450-4, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23472744

RESUMEN

BACKGROUND: The aim was to investigate the visual effect of coloured filters compared to transmission-matched neutral density filters, in patients with dry age-related macular degeneration. METHODS: Visual acuity (VA, logMAR), contrast sensitivity (Pelli-Robson) and colour vision (D15) were recorded for 39 patients (average age 79.1 ± 7.2 years) with age-related macular degeneration, both in the presence and absence of glare from a fluorescent source. Patients then chose their preferred coloured and matched neutral density transmission filters (NoIR). Visual function tests were repeated with the chosen filters, both in the presence and absence of glare from the fluorescent source. Patients trialled the two filters for two weeks each, in random order. Following the trial of each filter, a telephone questionnaire was completed. RESULTS: VA and contrast sensitivity were unaffected by the coloured filters but reduced through the neutral density filters (p < 0.01). VA and contrast sensitivity were reduced by similar amounts, following the introduction of the glare source, both in the presence and absence of filters (p < 0.001). Colour vision error scores were increased following the introduction of a neutral density filter (from 177.6 ± 60.2 to 251.9 ± 115.2) and still further through coloured filters (275.1 ± 50.8; p < 0.001). In the absence of any filter, colour vision error scores increased by 29.1 ± 55.60 units in the presence of glare (F2,107 = 3.9, p = 0.02); however, there was little change in colour vision error scores, in the presence of glare, with either the neutral density or coloured filters. Questionnaires indicated that patients tended to gain more benefit from the coloured filters. CONCLUSIONS: Coloured filters had minimal impact on VA and contrast sensitivity in patients with age-related macular degeneration; however, they caused a small reduction in objective colour vision, although this was not registered subjectively by patients. Patients indicated that they received more benefit from the coloured filters compared with neutral density filters.


Asunto(s)
Anteojos , Degeneración Macular/terapia , Anciano , Anciano de 80 o más Años , Color , Visión de Colores , Sensibilidad de Contraste , Femenino , Filtración , Deslumbramiento , Humanos , Luz , Masculino , Satisfacción del Paciente , Encuestas y Cuestionarios , Agudeza Visual
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