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.

[Leber's hereditary optic neuropathy].

Leber's hereditary optic neuropathy (LHON) is a rare disease primarily affecting the retinal ganglion cells. In most cases patients with LHON develop permanent visual loss with a large central scotoma in the visual field of both eyes. The optic disc becomes partially or completely pale.

Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy.

Background: Up to the 1950s, there was an ongoing debate about the diversity of hereditary optic neuropathies, in particular as to whether all inherited optic atrophies can be ascribed to Leber's hereditary optic neuropathy (LHON) or represent different disease entities. In 1954 W. Jaeger published a detailed clinical and genealogical investigation of a large family with explicit autosomal dominant segregation of optic atrophy thus proving the existence of a discrete disease different from LHON, which is nowadays known as autosomal dominant optic atrophy (ADOA).

Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy.

Introduction: Autosomal dominant optic atrophy (ADOA) is considered as the most common form of hereditary optic neuropathy. Although genetic linkage studies point to the OPA1 locus on chromosome 3q28-q29 as by far the most common gene locus, previous screening studies-based on sequencing of the coding exons-detected OPA1 mutations in only 32-70% of ADOA patients. We therefore hypothesised that larger deletions or duplications that remained undetected in previous screening approaches may substantially contribute to the prevalence of OPA1 mutations in ADOA.

[How to distinguish between autosomal dominant optic atrophy and Leber's hereditary optic neuropathy].

Background: Patients with long-lasting bilateral optic atrophy showed typical clinical features of autosomal dominant optic atrophy (ADOA). Molecular genetic analysis identified them as atypical cases of Leber's hereditary optic neuropathy (LHON).

Method: Three patients with bilateral optic atrophy and central scotomas of their visual fields were clinically diagnosed with ADOA.

Inner retinal contributions to the multifocal electroretinogram: patients with Leber's hereditary optic neuropathy (LHON). Multifocal ERG in patients with LHON.

In this study we examine the multifocal electroretinogram (mfERG) recorded from patients suffering from Leber's hereditary optic neuropathy (LHON), a degeneration of the ganglion cell and nerve fibre layers of the retina. We compared the mfERGs recorded from 11 patients with LHON, to those from 11 control subjects. The pattern ERG (PERG) was additionally performed with 9 of the patients.

Detecting color vision in a malingerer.

A patient describing himself as totally color blind was ordered by the judicial system to have his color vision investigated in order to establish his suitability for military service. Basic clinical (Farnsworth Panel D-15, Moreland and Rayleigh anomaloscope equations), electroretinographic (ERG) and psychophysical techniques (spectral sensitivities) were applied to determine the extent of his color discrimination performance and cone function. These standard procedures were complemented by a test for cone interaction (transient tritanopia) and by newly developed cone-isolating flicker large-field ERG recordings.

Confirmation of the 14568 mutation in the mitochondrial ND6 gene as causative in Leber's hereditary optic neuropathy.

Leber's hereditary optic neuropathy (LHON) is a maternally inherited disorder characterized by a rapid bilateral loss of central vision. The majority of patients have one of three mutations in the mitochondrial DNA. In order to identify the genetic cause of the disease in a family with two affected individuals without any of the three primary LHON mutations, we have sequenced the complete mitochondrial genome.

Leber's hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery.

Background: Mitochondrial DNA mutations at nucleotide position (np) 3460 in the ND1 gene, np 11778 in the ND4 gene, and np 14484 in the ND6 gene are commonly considered to be associated with the clinical features of LHON and account for the majority of LHON cases. Here we report the clinical and molecular genetic findings of a LHON patient with a new mitochondrial DNA mutation at np 11253 in the ND4 gene and spontaneous recovery.

Methods: The clinical examination consisted of visual acuity measurements, visual field testing, and ophthalmoscopy over a period of 14 years.

Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations.

Leber's hereditary optic neuropathy (LHON) is a maternally inherited disorder characterized by central vision loss in young adults. The majority of LHON cases around the world are associated with mutations in the mitochondrial genome at nucleotide positions (np) 3460, 11,778, and 14,484. Usually, these three mutations are screened in suspected LHON patients.

A mutational hot spot in the mitochondrial ND6 gene in patients with Leber's hereditary optic neuropathy.

Background: Leber's hereditary optic neuropathy (LHON) is a maternally inherited disorder characterized by rapid bilateral loss of central vision. Most patients harbor one of three mutations in the mitochondrial DNA. In order to identify the genetic cause of the disease in one LHON patient without any of the three primary mutations, we sequenced the mitochondrial genome.

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.

We and others have shown recently that mutations in the OPA1 gene encoding a dynamin-related mitochondrial protein cause autosomal dominant optic atrophy (ADOA) linked to chromosome 3q28-q29. Here we report screening of the OPA1 gene in a sample of 78 independent ADOA families. OPA1 mutations were identified in 25 patients (detection rate 32.

Segregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy.

Purpose: To investigate the segregation pattern of the mitochondrial DNA mutation at nucleotide position 3460 responsible for Leber's hereditary optic neuropathy (LHON) and to determine the prevalence of heteroplasmy for the three primary LHON mutations at positions 11778, 3460, and 14484.

Methods: Segregation analysis was performed in a cross-sectional study by determining the level of heteroplasmy in blood leukocytes of 23 LHON patients and unaffected carriers from four unrelated families. One family comprising two affected and three unaffected carriers was followed over 5.

[Leber optic neuropathy with clinical improvement].

Background: Spontaneous recovery in Leber's hereditary optic neuropathy is rare. Does the clinical course of Leber's hereditary optic neuropathy (LHON) differ between patients with and without spontaneous recovery?

Materials And Methods: We compared the clinical and molecular genetic characteristics of 12 visually symptomatic patients having the classical clinical course of LHON who recovered spontaneously with those of 60 who did not.

Results: Classical fundus findings and typical visual field defects were comparable in the two groups; vision improved within 18 months in all cases.

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

Autosomal dominant optic atrophy (ADOA) is the most prevalent hereditary optic neuropathy resulting in progressive loss of visual acuity, centrocoecal scotoma and bilateral temporal atrophy of the optic nerve with an onset within the first two decades of life. The predominant locus for this disorder (OPA1; MIM 165500) has been mapped to a 1.4-cM interval on chromosome 3q28-q29 flanked by markers D3S3669 and D3S3562 (ref.

[Leber optic neuropathy in women and children].

Background: Leber's hereditary optic neuropathy is associated with point mutations in the mitochondrial DNA (mtDNA) that appear to be pathogenetic for this disease. These mutations affect nucleotide positions 3460, 11778 and 14484. Does the clinical course of LHON differ between men, women and children?

Materials And Methods: We reviewed the clinical and molecular genetic characteristics of 15 visually symptomatic patients with the clinical diagnosis of LHON (11 women and 4 male children) and compared them with 66 men with LHON.

Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.

Background: Leber's hereditary optic neuropathy (LHON) is a maternally inherited ocular disease associated with mutations in the mitochondrial DNA (mtDNA). We describe the clinical and molecular genetic findings in a LHON patient and his family with a new mtDNA mutation at np14568 in the ND6 gene.

Methods: Ophthalmological examination was performed in one affected male and two maternal relatives.

Pupillary light reflexes in patients with Leber's hereditary optic neuropathy.

Background: According to a recent pupillographic study, patients with Leber's hereditary optic neuropathy (LHON) show the same pupillary behaviour as normals. Because this raises many questions concerning the real nature of LHON and challenges our concept of the afferent pupillary system, we tried to verify the results of this study.

Methods: Pupillary function was assessed in 34 normal subjects and 40 patients with LHON.

Mapping and genomic characterization of the gene encoding diacylglycerol kinase gamma (DAGK3): assessment of its role in dominant optic atrophy (OPA1).

The family of diacylglycerol kinases (DAGKs) is known to play an important role in signal transduction linked to phospholipid turnover. In the fruitfly Drosophila melanogaster, a human DAGK ortholog, DGK2, was shown to underlie the phenotype of the visual mutant retinal degeneration A (rdgA). Previously, the gene encoding a novel member of the human DAGK family, termed DAGK3, was cloned and demonstrated to be abundantly expressed in the human retina.