Encephalopathic Susac's Syndrome associated with livedo racemosa in a young woman before the completion of family planning.

Background: Susac's Syndrome (SS) consists of the triad of encephalopathy, branch retinal artery occlusions (BRAO) and hearing loss (HL). Histopathologically, SS is characterised by a microangiopathy, and some observations suggest that an immune-mediated damage of endothelial cells might play a role. These findings also implicate a similarity between SS and other autoimmune diseases, most notably juvenile dermatomyositis (JDM).

Evaluation of fixation pattern and reading ability in patients with Leber hereditary optic neuropathy.

Background: Leber hereditary optic neuropathy (LHON) is characterized by progressive loss of central vision leading to impaired reading ability. The aim of this study was to evaluate sensory adaptation and reading ability in LHON patients.

Methods: This prospective pilot study included 12 male patients with a clinical diagnosis and a positive genetic analysis of LHON, who matched the inclusion criteria of a central scotoma on visual field testing and the use of magnifying aids to read.

A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.

Background: Mutations in OPA3 have been reported in patients with autosomal dominant optic atrophy plus cataract and Costeff syndrome. Here, we report the results of a comprehensive study on OPA3 mutations, including the mutation spectrum and its prevalence in a large cohort of OPA1-negative autosomal dominant optic atrophy (ADOA) patients, the associated clinical phenotype and the functional characterisation of a newly identified OPA3 mutant.

Methods: Mutation analysis was carried out in a patient cohort of 121 independent ADOA patients.

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.

Background: Leber's hereditary optic neuropathy (LHON) is a maternally inherited blinding disorder, which in over 90% of cases is due to one of three primary mitochondrial DNA (mtDNA) point mutations (m.11778G>A, m.3460G>A and m.