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At least 379 records · Page 21Linked to original sources
PubMed2006

Visual-evoked response, pattern electroretinogram, and psychophysical magnocellular thresholds in glaucoma, optic atrophy, and dyslexia.

PURPOSE: The purpose of this study is to compare visual-evoked response (VEP) pattern electroretinogram (PERG) and psychophysical thresholds to the same stimulus, designed to be optimal for the magnocellular system, in suspects and patients with early glaucoma, patients with optic nerve disease, dyslexic children, and age-matched controls. METHODS: Stimuli were low spatial frequency sinusoidal luminance profile gratings abruptly phase reversing at 7.14 Hz. Electrophysiological recordings were made at 50%, 30%, 20%, 10%, and 5% contrast. Threshold was the lowest contrast evoking a clear response at the stimulus frequency. Three independent judges scored the traces. Psychophysical thresholds were obtained by ascending and descending method of limits. VEPs and PERGs to International Society for Clinical Electrophysiology of Vision (ISCEV) standards and to increasing spatial frequencies were obtained as parvocellular specific controls. Patients were diagnosed independently by the referring professionals. RESULTS: Parvocellular-specific responses were normal, except in cases with explicable visual acuity loss. The judges scores correlated highly (> 0.9). VEPs and PERGs correlated highly and each correlated less well with psychophysics in normals, glaucoma, and dyslexia but the opposite occurred in optic nerve disease. VEPs had the lowest normal values and least variance (all adults < 5%, children < 10%, PERGs < 20%). In glaucoma, VEP magnocellular deficits occurred in 85% of recently diagnosed positive cases, 48% of high-risk suspects, 39% of low-risk suspects, and ocular hypertensives. Approximately 28% of dyslexics had VEP magnocellular deficits. PERG losses were less frequent. There was a clear dichotomy and low correlations between psychophysics and electrophysiology both within and between groups. Psychophysical threshold elevations were absent in all glaucoma groups, often large in optic atrophy and small (2.5%) but highly significant in dyslexia. CONCLUSION: Contrast thresholds to magnocellular-specific stimuli are consistent in cortex and retina. VEPs are more reliable. Psychophysics seems to tap different mechanisms. VEPs are very sensitive to early glaucoma. The lack of VEP loss in dyslexia suggests the other losses are artifactual. Further research is needed to see if stimuli even more like the frequency-doubling technology are more useful clinically.

Adult↗
PubMed2000

Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene.

Genetic defects affecting the mitochondrial respiratory chain are an important cause of neurological disease. Previously, we identified a family with complex II deficiency and late-onset neurodegenerative disease with progressive optic atrophy, ataxia, and myopathy. The affected family members are now shown to carry a C-to-T transition in one allele of the nuclear gene encoding the flavoprotein subunit of complex II. Mutation of the equivalent base in Escherichia coli generates an inactive enzyme unable to bind flavin adenine dinucleotide covalently. Compatible with these findings, our patients have an approximate 50% decrease in complex II and succinate dehydrogenase activity. These results suggest that genetic defects of nuclear-encoded subunits of the mitochondrial respiratory chain can result in late-onset neurodegenerative disease.

Age of Onset↗
PubMed1984

Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature.

The GAPO syndrome is a rare but distinct autosomal-recessive disorder. The term GAPO is an acronym for the manifestations of Growth retardation. Alopecia, Pseudo- anodontia (failure of tooth eruption), and progressive Optic atrophy. We are aware of five other published patients. All have a strikingly similar appearance. This, along with other distinct manifestations, should allow clear differentiation from other causes of growth retardation. The hypothesis of autosomal-recessive inheritance is based on parental consanguinity and affected sibs in several cases.

Alopecia↗
PubMed1984

Decreased thiosulfate sulfur transferase (rhodanese) in Leber's hereditary optic atrophy.

In mammals the major portion of cyanide is converted to thiocyanate by the liver enzyme thiosulfate sulfur transferase (TST) (rhodanese). We have found a much reduced activity of this enzyme in liver biopsies from two affected males of a family with Leber's hereditary optic atrophy and in two isolated cases of the same disease, (compared to liver biopsies from controls or liver samples obtained at autopsy). In one of the patients we studied the effect of a 3-day thiosulfate infusion. The urinary excretion of thiocyanate which was low prior to the infusion was raised during the thiosulfate treatment; in a healthy control person the same thiosulfate infusion did not alter the thiocyanate excretion rate. This suggests that cyanide detoxification which is suboptimal in patients with Leber's disease may be increased by thiosulfate infusion.

Adolescent↗
PubMed1997

[PEHO syndrome (progressive encephalopathy, edema, hypsarrhythmia. optic atrophy)].

The authors report the case of a now 2-year-old boy with PEHO syndrome. The syndrome is rare and it has not been published yet in Hungary. The syndrome was named after the first letters of its main characteristic signs: progressive encephalopathy, edema, hypsarrhythmia and optic atrophy. The aetiology of the syndrome is still unknown. Autosomal recessive inheritance is likely. The prognosis is poor. Intractable infantile spasms and the arrest of the psychomotoric and mental development can be expected.

Abnormalities, Multiple↗
PubMed2002

A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family.

Congenital cerebellar ataxias are a heterogeneous group of non-progressive disorders characterized by hypotonia and developmental delay followed by the appearance of ataxia, and often associated with dysarthria, mental retardation, and atrophy of the cerebellum. We report the mapping of a disease gene in a large inbred Lebanese Druze family, with five cases of a new form of non-progressive autosomal recessive congenital ataxia associated with optic atrophy, severe mental retardation, and structural skin abnormalities, to a 3.6-cM interval on chromosome 15q24-15q26.

Abnormalities, Multiple↗
PubMed1985

Leber's optic atrophy with myopia masquerading as glaucoma: case report.

In recent years there has been much discussion in the literature regarding the proper approach to the patient who presents with apparent "low tension" glaucoma. In addition to a complete workup and proper management of such a patient, careful consideration must be given to the differential diagnosis of clinical conditions presenting with optic disc cupping and visual field changes. We present an interesting clinical situation in which a patient with severe myopia and Leber's optic atrophy was referred for surgery for treatment of apparent progressive "low tension" glaucoma.

Adult↗
PubMed1989

A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia.

We describe 19 cases of a familial syndrome consisting of infantile optic atrophy and an early movement disorder in which chorea predominated. About one-half the patients developed spastic paraparesis during the second decade of life. Ataxia and cognitive deficits were common, usually of mild degree. Seventeen of the patients were females. Sixteen had similarly affected siblings, but none had affected parents. All but one belonged to the Iraqi Jewish community in Israel, giving a minimal prevalence rate in this ethnic group of about 1:10,000.

Adolescent↗
PubMed1989

Lafora-body disease with optic atrophy, macular degeneration and cardiac failure.

A 17-year-old boy was admitted to hospital in acute cardiac failure and psychosis. The clinical course, EEG records and tissue diagnosis, including biopsies of brain, skin, skeletal muscle, peripheral nerve and liver were compatible with Lafora-body disease (LBD). Unusual features were those of optic atrophy and macular degeneration, signs generally regarded as negative criteria for the diagnosis of this disease. We also present the findings on endomyocardial biopsy which was performed because cardiac failure as an early symptom of LBD has not been previously described. The patient died in status epilepticus a few months after discharge from hospital.

Adolescent↗
PubMed1977

Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients.

A review of 88 cases from the literature with personal observations on 3 new patients is given of the syndrome featured by juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder and other abnormalities. The postmortem in one of our cases is mentioned. The pattern of inheritance is autosomal recessive. The interpretation of the data on diabetes insipidus from the literature and in our three patients is also discussed. It can only be stated that neurohypophyseal diabetes insipidus can be a component of the syndrome and that in many cases--particularly in the presence of lesions of the efferent urinary tract--the possibility of nephrogenous diabetes insipidus can not be excluded with certainty. It seems probable that the same mechanism can be held responsible for the lesions of the olfactory, optic, vestibular and cochlear nerves, the hypophyseal form of diabetes insipidus, retarded sexual maturation, abnormal pupillary reaction, myelopathy and the electro-encephalographic, electroneurological and electromyographic changes in the Wolfram syndrome. The process underlying this affection of neural structures remains obscure.

Adolescent↗
PubMed1982

[Extrapyramidal rigidity with dystonia, optic atrophy and bilateral putaminal lesions in an adolescent. Juvenile form of Leigh's disease (author's transl)].

A 19-year-old man presented with an apparently non-familial neurological disorder that had progressed from the age of 6 years. Dystonia of the trunk and limbs with extrapyramidal rigidity, dysarthria, a pyramidal syndrome with spasticity of the lower limbs, bilateral optic atrophy, and nystagmiform ocular movements were present. CT scan demonstrated symmetrical putaminal lesions. The different aetiologies of bilateral striatal lesions are considered, the final diagnosis being a juvenile form of Leigh's disease.

Adult↗
PubMed2000

A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome.

We report the first de novo mutation in the DDP gene in a Dutch 11-year-old boy with deafness and dystonia. Previously reported mutations in the DDP gene have all been frameshifts/nonsense mutations or deletion of the entire gene as part of a larger deletion encompassing the BTK gene. The clinical presentation was uniformly characterised by sensorineural hearing loss, dystonia, mental deterioration, paranoid psychotic features, and optic atrophy, indicating progressive neurodegeneration. Our report illustrates that de novo mutations occur and that a missense mutation, C66W, may cause an equally severe clinical picture. The diagnosis of sensorineural hearing impairment associated with neurologic and visual disability in a male, therefore, should encourage the search for mutations in the DDP gene, even in sporadic cases. The association of deafness-dystonia syndrome with a missense mutation provides valuable information for in vitro investigations of the functional properties of the deafness-dystonia peptide which was recently shown to be the human homolog of a yeast protein, Tim8p, belonging to a family of small Tim proteins involved in intermembrane protein transport in mitochondria.

Adult↗