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Results for “Optic Atrophy”

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PubMedDate not supplied

Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter.

Pattern and flash visual evoked cortical potentials (PVEP, FVEP), and pattern electroretinograms, (PERG) were recorded in 13 affected individuals from 8 families with DOA. These were selected as representative from 87 affected members of 21 pedigrees with DOA who were examined, and who underwent genetic linkage analysis. Linkage to the OPA1 locus on chromosome 3q 28-qter was demonstrated in all families. VA ranged from 6/9 to HM: visual fields showed a variable centro-caecal defect; SLO (when performed) showed diffuse nerve fibre loss; MRI (when performed) showed small intra-orbital optic nerves. In 9/13 patients the PVEP was absent in one or both eyes. Most recordable PVEPs were of abnormal latency, but the delays were not marked (peak times 116-135 msec); amplitudes were low or subnormal. PERG fell within the normal range in 9 eyes of 7 patients. 14 eyes showed an abnormal N95:P50 ratio in keeping with ganglion cell dysfunction. Some severely affected eyes showed P50 component involvement, but in no eye was the PERG extinguished. Significant interocular asymmetries in at least one electrophysiological measure were present in 6/13 patients. Colour contrast thresholds were significantly elevated for all three colour confusion axes, with tritan being most affected.

Adolescent↗
PubMed2002

Engelmann's disease with optic atrophy.

Engelman-Camurati disease is a rare Diaphyseal dysplasia, characterized by endosteal and periostal thickness of cortex of shaft of tubular bone sparing metaphysis and epiphysis. The bone of the hand, feet, ribs, scapulae and pubis are not affected.

Camurati-Engelmann Syndrome↗
PubMed1979

Quadruple sectoranopia and sectorial optic atrophy: a syndrome of the distal anterior choroidal artery.

Loss of upper and lower homonymous sectors in the visual field, and wasting of corresponding sectors in the retinal nerve fibre layer, followed ligation of the distal part of the anterior choroidal artery in a patient with a meningioma of the velum interpositum. Clinical and radiological evidence indicated that the visual pathway was damaged within that part of the lateral geniculate body that is served by the anterior choroidal artery.

Adult↗
PubMed1990

[Leber's optic atrophy].

On the basis of observation of personal cases the authors discuss the clinical course and the natural history of Leber's disease. Particular attention is called to the diagnostic difficulties; the value of the angiographic examination in the acute phase of development of the condition is stressed. An appropriate differential diagnosis enabled us to avoid in these patients unnecessary and iatrogenic neuro- and radio-diagnostical examinations. Possibilities of treatment and the aspects of activity of this disease are also discussed.

Adolescent↗
PubMed1999

[Amiodarone-induced bilateral optic atrophy--a case report].

We report a case of visual loss and bilateral papilloedema under therapy with the antiarrhythmic substance amiodarone, which is used in treatment of refractory and life-threatening supraventricular and ventricular cardial tachyarrhythmias. After excluding intracranial hypertension, local tumors and an inflammatory genesis we consider this case to be an amiodarone-induced toxic opticusneuropathy. Amiodarone, a diiodated benzofuran derivative, is a cationic amphiphilic drug, which is able to cause ceratopathy and neuropathy. The rarely described and less known opticusneuropathy caused problems in differential diagnosis. A brief review about current knowledge of pathophysiology, differential diagnosis and course of illness is presented.

Aged↗
PubMed1998

[Clinical study and genetic 3q28 locus linkage in 2 Swiss families with Kjer dominant optic atrophy (OPA1)].

METHODS: We examined 20 patients from 2 unrelated Swiss families to describe their clinical phenotype. In addition, a linkage analysis was performed in an attempt to confirm the reported genetic homogeneity of this condition as well as to refine its genomic localization. RESULTS: Two point analysis provided a cumulative LOD-score of 3.03 with marker D3S 2305. The absence of recombination precluded further refinement of the disease interval. CONCLUSIONS: Our data confirm the genetic homogeneity and the extreme variability of expression, occasionally mimicking low tension glaucoma.

Adolescent↗
PubMed1987

Onchocerciasis and optic atrophy in the Savannah area of Ghana.

The ocular findings in the male population of 3 villages from a hyperendemic area of onchocerciasis in North Ghana have been recorded. Vector control in the Volta River Basin has led to reduced microfilarial loads and improved tolerance of treatment with diethylcarbamazine-citrate (DEC-C). Prevalence of posterior eye lesions increased sharply above the age of 30 years in the survey population. In patients with palpable onchocercomas (nodules) serious pathology of the posterior segment of the eye was found twice as frequently as in onchocerciasis patients without nodules. In the village visited by the Mobile Eye Team since 1978 the prevalence of serious eye lesions was slightly lower than in the two villages never visited by the eye team. Desirability to give treatment to the younger population with low incidence of serious eye lesions is expressed. Attention is drawn to the increased danger of adverse reactions to treatment in the presence of posterior eye lesions.

Adolescent↗
PubMed1996

Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia.

Defects of the mitochondrial respiratory chain are increasingly being recognized as an important cause of neurological disease in humans. In many of these patients, the biochemical defect results from an abnormality of the mitochondrial genome. Respiratory chain defects involving complex II, which is entirely encoded by the nuclear genome, are comparatively rare. We report the clinical and biochemical findings in 2 elderly sisters who presented with late-onset neurodegenerative disease. In both patients, a partial deficiency of complex II (approximately 50% of control values) was shown to be present in mitochondria from muscle and platelets. The enzyme defect was not expressed in cultured skin fibroblasts or immortalized lymphocytes. There was an overexpression of the 70-kd flavoprotein subunit in muscle mitochondria from both patients, although we showed that this subunit is present in normal amounts in mitochondrial membranes. Our studies highlight the diversity of the clinical presentation of respiratory chain disease and that complex II deficiency should enter the differential diagnosis of certain patients with late-onset neurodegenerative disease.

Ataxia↗
PubMed2002

Continuing optic nerve atrophy following optic neuritis: a serial MRI study.

To investigate optic neuritis as a model for atrophy in multiple sclerosis (MS) lesions we performed serial magnetic resonance imaging (MRI) on 10 patients with a history of optic neuritis using a fat saturated short-echo fast fluid-attenuated inversion recovery (sTE fFLAIR) sequence. The first study was performed a median of 19.5 months after the onset of optic neuritis and the second 1 year later. Using a computer-assisted contouring technique, a blinded observer calculated the mean area of the intro-orbital optic nerves. The mean area of affected optic nerves decreased over 1 year by 0.9 mm2 from 11.1 to 10.2 mm2 (p = 0.01). Poor visual acuity and decreased visual-evoked potential (VEP) amplitude were associated with atrophy. These findings suggest that atrophy is a feature of focal demyelinating lesions, it may evolve over several years, and may have functional significance. Optic neuritis provides a model to study the effect of inflammatory demyelination through the ability to accurately measure visual function and to visualize and measure the optic nerves using magnetic resonance imaging.

Adult↗