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Results for “Optic Atrophy”

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At least 1,045 records · Page 58Linked to original sources
PubMed1989

Relative afferent pupillary defects in multiple sclerosis.

Relative afferent pupillary defects were found in 69 of 386 patients (18%) seen by the author at the University of British Columbia Multiple Sclerosis Clinic between Feb. 1, 1985, and Apr. 30, 1987. Pupil defects were more common in patients with clinically definite multiple sclerosis, those with recent or unilateral optic neuritis and those with unilateral or asymmetric optic atrophy. A relative afferent pupillary defect was found in 15 patients with no history of optic neuritis, 5 patients with no optic atrophy and 2 patients with normal visual evoked potentials. The frequency of relative afferent pupillary defects after optic neuritis in this group of patients was much lower than that found in a previous study of patients who presented with optic neuritis.

Adolescent↗
PubMed2003

Molecular characterization of WFS1 in patients with Wolfram syndrome.

Wolfram (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) syndrome is a rare autosomal-recessive neurodegenerative disorder that is characterized by juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing impairment. A gene responsible for Wolfram syndrome (WFS1) has been identified on the short arm of chromosome 4 and subsequently mutations in WFS1 have been described. We have screened 12 patients with Wolfram syndrome from nine Dutch families for mutations in the WFS1-coding region by single-strand conformation polymorphism analysis and direct sequencing. Furthermore, we analyzed the mitochondrial genome for gross abnormalities and the A3243G point mutation in the leucyl-tRNA gene, because Wolfram syndrome shows phenotypic similarities with mitochondrial disease. Seven mutations in WFS1 were identified in six of nine families: two missense mutations, one frameshift mutation, one splice donor site mutation, and three deletions. In addition, a splice variant near the 5'UTR of WFS1 was identified, present in patient as well as control RNA samples in various percentages, alternating the translation initiation consensus sequence. Whether this WFS1 splice variant displays impaired translation efficiency remains to be determined. No MtDNA lesions were identified in any of the Wolfram patients. Our results demonstrate the usefulness of molecular analysis of WFS1 in the refinement of clinical diagnostic criteria for Wolfram syndrome that helps to dissect the clinically overlapping syndromes sharing diabetes mellitus and optic atrophy.

Adolescent↗
PubMed1995

Diagnostic value of 33 Hz steady-state visual evoked potentials in low-vision children.

Pattern-reversal visual evoked potentials elicited by patterns of 60' and 20' checks and 33 Hz steady-state flash visual evoked potentials were recorded in low-vision children (visual acuity less than 20/120) with optic atrophy (18 eyes), amblyopia (18 eyes), macular degeneration (7 eyes) and controls (24 eyes). Steady-state visual evoked potentials were non-recordable in 17 out of 18 eyes of optic atrophy patients and normal in other children. Abnormalities of pattern-reversal visual evoked potentials were similar in all groups of patients. 33 Hz steady-state flash visual evoked potentials are recommended for differential diagnosis of optic atrophy with other causes of low vision in children.

Adolescent↗
PubMedDate not supplied

The optic disc in Leber congenital amaurosis.

The typical fundus appearance in Leber congenital amaurosis (LCA) in infancy is normal. Later in childhood, clinical heterogeneity develops and a variety of fundal abnormalities may be seen. These commonly include optic atrophy, retinal arteriolar attenuation, and a variety of pigmentary changes. We retrospectively reviewed the optic disc findings of 77 patients with LCA whom we had examined to confirm our clinical impression that the optic discs are frequently normal. Age at examination ranged from infancy to the fourth decade. The optic discs were normal in 53 (69%) of the 77 patients examined; 18 (23%) had varying degrees of optic atrophy; 2 (3%), pseudopapilledema; and 1 (1%), grey discs. The optic discs could not be seen in 3 (4%) patients. We conclude that the optic discs are frequently normal in appearance, even in older patients with LCA.

Adolescent↗
PubMed1990

C wave study in optic neuritis due to demyelinating disease.

The C wave was recorded from 20 eyes suffering from neuritis due to demyelinating disease and in 5 eyes showing optic atrophy due to trauma or to increased intracranial pressure. Our results show that in cases with optic neuritis the C wave amplitude was clearly lower than normal. It is interesting that in the other 'healthy', at least clinically, eye the C wave was subnormal too. On the contrary, in the eyes with optic atrophy the C wave was normal. These findings are against the possibility of an efferent neuronal pathway involvement, which influences the level of the retinal pigment epithelium, and support the view of its involvement during the course of the demyelinating disease that causes the optic neuritis.

Adolescent↗
PubMedDate not supplied

Cyanide in human disease: a review of clinical and laboratory evidence.

Experimental cyanide exposure in animals causes demyelination and circumstantial clinical and laboratory evidence suggest that there are human parallels. In Leber's hereditary optic atrophy there appears to be a defect in the conversion of cyanide to thiocyanate because of deficient rhodanese activity. For transmitters of the disease smoking carries the risk of blindness and in the most severely affected patients, there is diffuse neurological disease. It is possible that other hereditary optic atrophies (dominant and recessive) may also reflect inborn errors of cyanide metabolism. In the retrobulbar neuritis and optic atrophy of vitamin B12 deficiency there may be a conditional abnormality of cyanide metabolism in smokers, and likewise in so-called tobacco-alcohol amblyopia in which there are more complex nutritional deficiencies. Epidemiological evidence (differing sex ratios, excess of smokers) indicates that defective cyanide metabolism may contribute to the development of sub-acute combined degeneration of the cord in vitamin B12 deficiency. In protein-malnourished populations consuming large amounts of cyanide or cyanogens, viz. in tropical Africa where the staple diet includes cassava containing large amounts of linamarin, similar maladies occur as acquired disorders. There may be a similar explanation for lathyrism. The known pathways of human cyanide metabolism are reviewed and evidence supporting the clinical data is presented.

Adolescent↗
PubMed1997

Ophthalmologic findings in patients with ataxia.

PURPOSE: To determine the frequency and spectrum of ophthalmologic findings in a large, heterogeneous group of patients with ataxia. METHODS: Medical records of 184 patients from a university-based ataxia clinic were retrospectively reviewed. Patients were classified as having Friedreich's ataxia, spinocerebellar degeneration, cerebellar degeneration, familial or sporadic olivo-pontocerebellar atrophy, multisystem atrophy, spastic ataxia, myoclonic ataxia, or other diagnoses such as mitochondrial myopathy. All had complete ophthalmologic examinations, and 107 underwent electro-oculography. RESULTS: Among 184 patients with ataxia, diplopia was present in 52 (28%), best-corrected visual acuity was decreased in 29 (16%), and oscillopsia was present in 10 (5%). Diplopia was usually caused by an intermittent, small-angle heterotropia. The reduction in best-corrected visual acuity varied from mild to profound and was caused by optic atrophy, retinal degeneration, or both. Optic atrophy was present most frequently in spastic ataxia (five of 22 patients) and myoclonic ataxia (two of eight patients), followed by Friedreich's ataxia (three of 26 patients). Retinal degeneration and ophthalmoplegia were most characteristically associated with familial olivopontocerebellar atrophy and mitochondrial myopathy. Laboratory testing of ocular motility showed frequent abnormalities in all groups. Fixation instability was most characteristic of Friedreich's ataxia, whereas saccadic slowing was noticeably absent from patients with purely cerebellar degenerations. CONCLUSIONS: The ataxias may be associated with visual dysfunction caused by retinal degeneration, optic atrophy, oculomotor disturbance, or a combination of these.

Adolescent↗
PubMed1992

Perimetric testing of tritan deficiency.

Three members of a family with dominantly inherited juvenile optic atrophy tested with a computerized perimeter employing violet and blue-green test lights and low-intensity white background, all showed larger reduction in the relative sensitivity to violet light in the more central parts of the visual field compared with the periphery within 30 degrees from the center. Two subjects had typical optic atrophy, centrocecal scotoma and lower than normal visual acuity. In 1 subject with good visual acuity of both eyes, no optic atrophy was observed but there was impairment in the luminosity function (tested with white test object on white background) of the peripheral visual field.

Adult↗
PubMed2004

Wolfram syndrome.

The Wolfram syndrome is a rare dysmorphogenetic disease of autosomic recessive hereditary nature. The pathogenesis of the disease is still not well known. It is characterised by the presence of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Other anomalies, such as renal outflow tracts and multiple neurological disorders may develop later. In our case report the diabetes mellitus appeared at the age of 4; the hearing loss and renal disturbances at the age of 11; the optic atrophy at the age of 16. No signs of ataxia, diabetes insipidus and neurologic anomalies were found. The diagnosis of Wolfram syndrome is not always easy in the first stages of the disease. The suspect may come from the presence of a juvenile diabetes mellitus asssociated with optic atrophy. For the diagnosis a valid clue can be given from the results of some clinical tests such as the positivity of the visual evoked potentials and the retinogram reliefs and the exclusion of the autoimmune origin of the diabetes mellitus. Other signs such as the progressive sensorineural hearing loss, the presence of nystagmus and of urodynamic disturbances and renal complications makes the diagnosis of this syndrome easier.

Adolescent↗