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Results for “Optic Atrophy”

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At least 37 records · Page 2Linked to original sources
PubMed1977

The histologic basis of optic disk pallor in experimental optic atrophy.

We studied the clinical and microscopic appearances of the optic nerve head in squirrel monkeys with optic nerve degeneration produced by optic nerve transection at the orbital apex. The ophthalmoscopic development of optic disk pallor coincided with the loss of nerve fiber bundles and the rearrangement of the remaining disk astrocytes into dense parallel layers across the nerve head. No astrocytic mitoses were observed and the estimated volume of astrocytes increased only slightly from normal. Among the astrocytes in atrophic disks, many capillaries had patent lumens and ultrastructurally normal endothelial cells. Pallor of the optic disk seems to result from a decrease in the transmission of light into the cytoarchitecture of the atrophic nerve head, not from the absence of capillaries or from extensive astrocytic proliferation.

Animals↗
PubMed1979

Optic atrophy after irrigation of the lacrimal ducts with chloramphenicol.

A case is presented of permanent visual loss and optic atrophy following irrigation of the lower canaliculus after probing, with a 20% solution of chloramphenicol. A false passage had apparently been created allowing the solution to gain access to the orbital tissues. The ensuing orbital edema probably caused a central retinal artery occlusion. This is a previously unreported complication of a common ophthalmologic procedure.

Adult↗
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↗
PubMed1978

Charcot-Marie-Tooth disease with Leber optic atrophy.

A family is described in which visual failure was associated with hypertrophic Charcot-Marie-Tooth disease. The diagnosis of Charcot-Marie-Tooth disease was confirmed by electrophysiologic studies and by quantitative histologic studies of sural nerve biopsies. The clinical features and mode of inheritance of the visual failure were those of Leber optic atrophy. The two conditions were inherited independently.

Adolescent↗
PubMed1979

[Diabetes insipidus, diabetes mellitus, optic atrophy and labyrinthine deafness: the DIDMOAD-syndrome (author's transl)].

The DIDMOAD syndrome is a combination of diabetes mellitus, diabetes insipidus, optic atrophy and labyrinthine deafness. The inheritance is autosomalrecessive. Diagnostic and therapeutic possibilities are discussed on the basis of a further case of this pathogenetically not yet clarified disease pattern. Early detection of this syndrome in juvenile diabetics is important for long-term prognosis and genetic family advice.

Child↗
PubMed1979

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness. A clinical and genetic study.

Two Iraqi sisters and a female cousin developed diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), and deafness (D), (the 'DIDMOAD' syndrome) before the age of 12 years. One girl exhibited all the features of this disease complex only 3 months after an unusually late onset of recognizable symptoms at 11 years 9 months. Another girl died suddenly and unexpectedly. This family study illustrates the recessive inheritance pattern of the syndrome.

Child↗
PubMed1977

Systemic lupus erythematosus complicated by panniculitis, optic atrophy, and hemiplegia: report of a case.

A case is presented of a patient with systemic lupus erythematosus who had three of its rarest complications--panniculitis, optic atrophy, and hemiplegia, the latter two occurring despite adequate corticosteroid therapy. There appears to be a missing link in this patient's immune mechanism, which faulted her complete response to corticosteroid therapy and led to the three complications.

Adipose Tissue↗
PubMed1979

Optic atrophy in acute intermittent porphyria.

A 24-year-old woman developed bilateral blindness after recovery from coma secondary to acute intermittent porphyria. Gradual return of vision in the right eye with a permanent unilateral visual field defect and optic atrophy followed. We believe the pathophysiologic mechanism was spasm of the vessels supplying the optic disk leading to ischemia and infarction of the optic nerve.

Acute Disease↗
PubMedDate not supplied

[Hereditary optic atrophy of the Kjer's type].

Kjer's disease is a benign form of hereditary optic nerve atrophy observed mainly in women. It starts in childhood and progresses slowly without leading to complete blindness. The inheritance is dominant. These features differentiate it from other known forms of hereditary optic nerve atrophy, that is Leber's and Behr's syndromes. The reported case was observed in a 21-year-old man whose mother, grandmother and great-grandmother had optic nerve atrophy. Since the age of 10 years the patient had visual acuity impairment progressing slowly. Examination demonstrated central scotoma, pallor of both optic discs particularly on the temporal side. After 10 years of the disease the visual acuity was 0.5 on the right and 0.3 on the left side. There was bilateral hearing impairment of high tones. The patient had no knee and ankle jerks. Differential diagnosis of Kjer's syndrome against other hereditary-degenerative diseases is discussed.

Abnormalities, Multiple↗
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↗
PubMed1979

Foveal cone electroretinograms in strabismic amblyopia: comparison with juvenile macular degeneration, macular scars, and optic atrophy.

A hand-held stimulator-ophthalmoscope was used to elicit foveal cone electroretinograms (ERGs) from fifteen patients with strabismic amblyopia. The ERGs were in response to a 4 degrees stimulus visualized on the fundus and centred on the fovea throughout testing. Foveal cone ERGs from amblyopic eyes were normal in amplitude and normal in b-wave implicit time. Interocular differences in ERGs in patients with amblyopia were no greater than those in normal subjects. Patients with comparable visual acuity loss due to macular scars or juvenile hereditary macular degeneration had abnormal foveal cone ERGs, while patients with optic atrophy had normal responses. These findings support the idea that the defect in strabismic amblyopia does not involve a functional abnormality in the fovea distal to the ganglion cell layer.

Adolescent↗
PubMed2026

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss-of-function (LOF) variants in PIP5K1C, reported in only two families to date. It typically presents with severe fetal akinesia, arthrogryposis multiplex congenita, and perinatal lethality due to respiratory insufficiency case. Herein, we report a new case with survival beyond birth. Prenatal findings included clubfeet with preserved amniotic fluid volume and fetal movements. The infant was delivered by cesarean section at 37 + 7 weeks following breech presentation and developed respiratory distress requiring 14 days of ventilatory support. Physical examination revealed bilateral talipes equinovarus, flexion contractures of the knees, restricted hip mobility, clenched hands with flexion contractures of the third and fourth fingers, and hyperextension of the second and fifth fingers. Neurologically, he had encephalopathy, profound hypotonia with a frog posture, and abnormal neonatal reflexes with a discontinuous background pattern on cerebral function monitoring. Additional observed features were bilateral optic atrophy and hyperinsulinemic hypoglycemia responsive to Diazoxide. Trio genome sequencing identified a homozygous pathogenic splice-site variant in PIP5K1C (c.1127+1G>A, NM_012398.3). The infant died at 6 months from multisystemic failure. Further studies are warranted to elucidate the pathomechanisms underlying the PIP5K1C defect and its phenotypic consequences.

LCCS3↗
PubMed1978

Visual field defects, cup-disc ratio and fluorescein angiography in glaucomatous optic atrophy.

Fluorescein angiography was carried out in 150 glaucoma subjects. Among them 94 subjects were selected to evaluate the correlation between functional loss and the findings of fluorescein angiography in the optic disc. The intensity of fluorescence was assessed in the superficial reticular capillaries and radial epipapillary capillaries. Functional loss was estimated by the visual field defects and cup-disc ratio. A marked decrease in the capillaries was seen in accordance with the increase in the cup-disc ratio. Also, the intensity of fluorescence in the optic disc paralleled the change in the visual field: the greater the deterioration in the visual field, the fewer the capillaries in the optic nerve head and vice versa. The fluorograms of 94 subjects were placed in one out of six groups, i.e. (1) normal, (2) arcuate scotoma, (3) superior or inferior nasal defects, (4) superior or inferior defects, (5) central residue or (6) temporal residue. The common factors correlating the fluorescein angiography in the glaucomatous optic disc with visual field loss were explored in 94 subjects, and it was possible to predict the visual field change from the capillary distribution in the glaucomatous optic disc.

Fluorescein Angiography↗
PubMed1979

Optic atrophy.

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Humans↗