Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Optic Atrophy”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 307 records · Page 17Linked to original sources
PubMed1988

DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) syndrome associated with myocardial disease.

A 30 year old man with DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) syndrome associated with myocardial disease is reported. Echocardiographic study revealed a marked symmetric left ventricular hypertrophy. Histology of the endomyocardial biopsy specimen from the right ventricle showed severe glycogen deposition in the myocytes. This case may indicate that DIDMOAD syndrome is a hereditary systemic disease affecting multiple organs, including the myocardium.

Adult↗
PubMed1986

Optic atrophy, diabetes mellitus and diabetes insipidus.

A 19-year-old Japanese woman developed diabetes mellitus, diabetes insipidus and optic atrophy. Other abnormal ocular findings included color blindness, elevated dark adaptation threshold, loss of oscillatory potentials after a single white flash electroretinogram (ERG), reduced cone response in photopic ERG, and reduced pupillary response to light and convergence. Diabetic retinopathy, which has been thought to be very rare in this syndrome, also was found in the fundi of this patient.

Adult↗
PubMed1980

Optic atrophy in experimental vitamin B12 deficiency in monkeys.

The clinical findings and pathological changes of the visual pathway of vitamin B12 deficient monkeys have been described. The cellular morphology and counts of the peripheral blood and bone marrow remained normal during the study (nine deficient, three controls: one still alive in each group). Visual impairment was noted in all seven of the deficient animals that were evaluated by clinical observations. Ophthalmoscopic examination disclosed optic atrophy in six of the seven deficient monkeys. Degeneration of the visual pathway was demonstrated by pathological examination in eight of the deficient group of nine (one is still alive). Loss of ganglion cells was noted in the maculae of two of three deficient animals with completed studies. In the three control animals there were neither visual disturbances nor ophthalmoscopic changes and in two animals autopsies disclosed no lesions in the visual pathways. The third animal is still alive and well.

Animals↗
PubMed1994

Clinical heterogeneity of dominant optic atrophy: the contribution of visual function investigations to diagnosis.

BACKGROUND: The variability of the visual function impairment in dominant optic atrophy (DOA) makes it difficult to diagnose the disease within genealogies. Physiologic investigations were conducted on a family with DOA to evaluate methods of detecting clinical and subclinical signs in obligate heterozygotes, in order to identify affected subjects within the genealogy and to formulate the individual and reproductive risks. METHODS: Investigations included tests for color vision, contrast sensitivity function (CSF), kinetic and static computerized perimetry, transient pattern reversal visual evoked potentials (VEPs) and steady-state flash VEPs. RESULTS: Eight subjects from the pedigree were diagnosed as having DOA. Two of them were unaware of their affection, and six showed wide clinical variability. CSF paralleled the central visual impairment, but was also slightly impaired in the two unaware subjects. Static computerized perimetry disclosed mild sensitivity defects in the central visual fields in these two patients. VEPs showed heterogeneous results as well, ranging from normal findings to severely altered tracings. CONCLUSIONS: This investigation suggests that combined clinical and functional evaluation is necessary to diagnose DOA. Particularly, the combined use of computerized perimetry, CSF, and VEPs allowed the identification of cases at a subclinical stage.

Adolescent↗
PubMed1994

Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.

OBJECTIVE: To determine if diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD) combined with a cerebellar syndrome is associated with a systemic disorder of respiratory chain function as found in similar genetic syndromes. CASE: A muscle biopsy was taken from a patient with DIDMOAD, and a mitochondrial fraction was prepared. Respiratory chain function was assessed by analysis of intermediary metabolites, histochemical analysis of muscle biopsy, measurement of the activity of individual respiratory chain complexes, oxidative flux through the respiratory chain, and cytochrome concentration and compared with a population with normal respiratory chain function. Mitochondrial DNA from skeletal muscle, brain, and pancreas was examined for major rearrangements and specific point mutations. Brain tissue was examined neuropathologically for abnormalities, particularly those previously described in association with DIDMOAD. RESULTS: No abnormality was found in mitochondrial oxidation, individual complex activity, or cytochrome concentration. Histochemical analysis and electron microscopy showed no abnormality known to be associated with mitochondrial dysfunction. A single-base substitution at position 12308 of the mitochondrial genome was found, but no major rearrangement of mitochondrial DNA was demonstrated. Neuropathological examination revealed severe demyelination and gliosis in the optic nerves and loss of Purkinje cells associated with gliosis in the white matter in the cerebellum. CONCLUSIONS: We have found no evidence that DIDMOAD is associated with a systemic abnormality of respiratory chain function. The mitochondrial DNA single-base substitution noted is likely to be a polymorphism rather than a pathogenic point mutation. We have confirmed that DIDMOAD may be associated with a neurodegenerative disorder, but the cause of this remains undetermined.

Adult↗
PubMed1992

Bilateral optic atrophy in Kenny's syndrome.

We present a 12-year-old girl with Kenny-Caffey syndrome and bilateral optic atrophy. The results of testing in this patient and the ocular findings in the 25 previously reported cases with Kenny-Caffey syndrome are reviewed. This is the first case with such an association in the literature to date.

Abnormalities, Multiple↗
PubMedDate not supplied

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in a Turkish child.

We report a Turkish boy with PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy). He had generalized hypotonia and abnormal eye movements during early infancy. Infantile spasms were seen in the second year of life. Arrest of psychomotor development and blindness were noticed early in childhood. Serial magnetic resonance imaging revealed progressive infratentorial atrophy with association of cortical atrophy and corpus callosum hypoplasia. This is an additional case of PEHO syndrome, to our knowledge the first such case from Turkey.

Abnormalities, Multiple↗
PubMed1983

Creutzfeldt-Jakob disease: a case with extensive white matter degeneration and optic atrophy.

A 52-year-old woman is described, whose clinical features were typical of Creutzfeldt-Jakob disease except for the presence of optic atrophy. Serial CT scans showed rapid development of brain atrophy early in the course. Postmortem examination revealed extensive degeneration of the cerebral and cerebellar white matter and of the optic nerves in addition to the classic findings of Creutzfeldt-Jakob disease. It is suggested that both the grey and white matter may undergo a severe destructive process early in the course of the disease, and the possibility is discussed that the white matter involvement is not a result of neuronal loss.

Brain↗
PubMed1977

The early phase in Leber hereditary optic atrophy.

Clinical, ophthalmoscopic, perimetric, and color vision tests and visual evoked responses were recorded in symptomatic and asymptomatic eyes in five members of a family with Leber hereditary optic atrophy. The presymptomatic eyes showed abnormalities in the retinal nerve fiber layer. Optic nerve dysfunction was found before central vision failed. The appearance of degenerating retinal nerve fibers, particularly in the papillomacular bundle, was documented photographically in the weeks after the onset of visual symptoms. Treatment with prednisone and hydroxocobalamin did not reverse or halt serious impairment of vision.

Adolescent↗
PubMed1990

Dark adaptation in glaucomatous and nonglaucomatous optic nerve atrophy.

Optic nerve damage is associated with impairment of psychophysical functions. We measured dark adaptation in 21 eyes of 14 normal subjects, 35 eyes of 19 patients with primary open-angle glaucoma, and 7 eyes of 4 patients with nonglaucomatous descending optic nerve atrophy. In the normal subjects light thresholds and time of the shoulder in the dark adaptation curve increased significantly with age. In eyes with glaucomatous or nonglaucomatous optic nerve damage light sensitivity was lower than in normal eyes of age-matched control groups. Rod light sensitivity was significantly (P less than 0.05) correlated with neuroretinal rim loss, parapapillary chorioretinal atrophy, and relative afferent pupillary defects. We conclude that velocity and degree of dark adaptation decrease with increasing age. Patients with glaucomatous and nonglaucomatous optic nerve atrophy show decreased light sensitivity especially in the rod part of dark adaptation worsening with advancing optic nerve damage.

Adult↗
PubMed1990

BAEP changes in Leber's hereditary optic atrophy: further confirmation of multisystem involvement.

A neurophysiological study of 11 patients belonging to 5 families affected by Leber's hereditary optic atrophy is reported. Electromyography, nerve conduction velocities and somatosensory evoked potentials were normal. Visual evoked potentials were absent or delayed, desynchronized and reduced in amplitude. Brainstem auditory evoked potentials were anomalous in 64% of subjects all without hearing defects. These changes which have never before been reported, confirm multisystem involvement in this disease.

Acoustic Stimulation↗
PubMed1983

Loss of electroretinographic oscillatory potentials, optic atrophy, and dysplasia in congenital stationary night blindness.

New criteria for diagnosing congenital stationary night blindness include loss of the oscillatory potentials in the photopic and bright-flash dark-adapted electroretinogram, and atrophy or dysplastic changes, or both, in the optic nerve head. Ten patients (seven male and three female, ranging in age from 6 to 19 years) had typical findings of congenital stationary night blindness including congenital nonprogressive nyctalopia, no pigmentary retinopathy, and full visual fields consistent with myopia. Visual acuities ranged from 20/30 to 20/60, though one patient had a visual acuity of 20/200. Most patients had histories of strabismus. The photopic electroretinograms were subnormal. Of the male patients, five had tilted optic disks with temporal portions of the nerve missing, and two had misshapen nerve heads. The three female patients had pallor of the optic disk without evidence of tilt.

Adolescent↗