Learn More
The authors analyzed the relationship between nuclear genetic risk factors (apolipoprotein E genotype) and mitochondrial DNA (mtDNA) sequence variants in pathologically proved cases of AD (n = 185), dementia with Lewy bodies (DLB; n = 84), and control subjects (n = 179). Specific European mtDNA haplogroups and the A4336G mutation were not associated with an(More)
BACKGROUND The observation of a buildup of mitochondria at the level of the lamina cribrosa in the optic nerve head has traditionally been attributed to axoplasmic stasis. However, this region is also the transition zone for myelination, resulting in differing energy requirements. OBJECTIVE To investigate the relationship between myelination and(More)
Leber's hereditary optic neuropathy (LHON) is a common cause of bilateral optic nerve disease. The majority of LHON patients harbour one of three point mutations of the mitochondrial DNA (mtDNA) complex I, or NADH:ubiquinone oxidoreductase (ND) genes (G11778A in ND4, G3460A in ND1, T14484C in ND6). As a consequence, screening for these mutations has become(More)
PURPOSE To evaluate somatic mitochondrial (mt)DNA mutations in the macula during ageing. METHODS Ten 30-microm cryostat sections from the macula (foveal and perifoveal regions) and peripheral retina of 14 donors (aged 14-94 years) were cut for cytochrome c oxidase cytochemistry. The photoreceptor layer was microdissected and DNA extracted for 4977-bp(More)
Diclofenac is a non-steroidal anti-inflammatory drug available in an ophthalmic preparation. We present a prospective randomised double-masked placebo-controlled trial involving 40 patients that assessed the effectiveness of topical diclofenac in relieving pain from traumatic corneal abrasions. Statistical analysis of visual analogue and categorical pain(More)
PURPOSE To determine (1) clinical features that distinguish maculopathy due to the R345W substitution in fibulin-3 from other forms of inherited or early-onset drusen, (2) the phenotypic variability, and (3) the extent of retinal disease in those with a positive molecular diagnosis. METHODS Affected individuals underwent ophthalmic examination, digital(More)
  • 1