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CONTEXT Leber hereditary optic neuropathy (LHON) is a maternally inherited loss of central vision related to pathogenic mutations in the mitochondrial genome, which are a necessary but not sufficient condition to develop the disease. Investigation of precipitating environmental/occupational (and additional genetic) factors could be relevant for prevention.(More)
BACKGROUND To evaluate the influence of axial length on measurements of the retinal nerve fibre layer (RNFL) thickness and optic nerve head (ONH) parameters in healthy subjects. METHODS Using Cirrus HD-OCT, RNFL thickness and ONH parameters (disc and rim area) were measured in 15 short (<22.5 mm), 15 medium (22.51-25.5 mm) and 15 long (>25.51 mm) eyes. (More)
PURPOSE To study the optic nerve head (ONH) morphology of patients with Leber's hereditary optic neuropathy (LHON) in a large family from Brazil carrying the 11778/ND4 mutation and in a case series of unrelated Italian families bearing different mitochondrial DNA (mtDNA) pathogenic mutations. METHODS Enrolled in the study were 15 LHON-affected patients(More)
Optic neuropathy is common in mitochondrial disorders, but poorly characterized in Friedreich's ataxia (FRDA), a recessive condition caused by lack of the mitochondrial protein frataxin. We investigated 26 molecularly confirmed FRDA patients by studying both anterior and posterior sections of the visual pathway using a new, integrated approach. This(More)
PURPOSE We assessed retinal ganglion cell (RGC) function, and established a correlation between the neural conduction along the visual pathways and the retinal involvement in Leber's hereditary optic neuropathy (LHON). METHODS A total of 39 individuals carrying a LHON mutation (mean age, 33.35 ± 8.4 years), LHON-unaffected (LU, 22 eyes) or LHON-affected(More)
PURPOSE To report an unusual case of myopic peripapillary retinal detachment (PPRD) imaged by optical coherence tomography (OCT). METHODS Observational case report. RESULTS OCT showed a nonreflective space between the retinal pigment epithelium and the neurosensory retina with the presence of bridging tissue that could be defined as an outer retinal(More)
The currently available methods for the diagnosis of dry eye are still far from being perfect for a variety of reasons. This review attempts to highlight the advantages and disadvantages of both traditional tests (such as Schirmer's test, break-up time and ocular surface staining) and innovative noninvasive procedures, including tear meniscus height(More)
PURPOSE To investigate the thickness of the retinal layers and to assess the prevalence of macular microcysts (MM) in the inner nuclear layer (INL) of patients with mitochondrial optic neuropathies (MON). METHODS All patients with molecularly confirmed MON, i.e. Leber's Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA), referred between(More)