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Results for “Optic Atrophy”

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PubMed1996

Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects.

Sixty-two patients from three large Danish families with autosomal dominant optic atrophy were clinically examined, and retrospective follow-up was made on 30 patients. We found great inter-and intrafamiliar variation in visual acuity and visual decline. One hundred and seventy-five chromosomal markers were analyzed in 118 family members. Linkage was demonstrated between the disease gene (OPA1) and the microsatellite markers D3S1314, D3S1262, D3S1265 and D3S1601, with the highest Lod score to D3S1601 Z=11.75. All markers are located on chromosome 3q in the telomeric area, the most probable location for the OPA1 gene being D3S1601-OPA1-D3S1265. Using data from the Danish Family Register of Hereditary Eye Diseases, the minimum prevalence rate was estimated to 1:12.301, making DOA the most common hereditary optic atrophy.

Adolescent↗
PubMed1995

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in two Japanese siblings.

We report on two Japanese siblings (one female and one male) with PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy). They showed profound generalized hypotonia early in infancy and developed infantile spasms with hypsarrhythmia within the first year of life. Abnormal eye movement and visual failure with optic atrophy were also observed early in infancy. Psychomotor development was arrested and serial neuroradiological studies showed slight progressive brain atrophy, dominantly of the brainstem. This is the first case report of PEHO syndrome, other than those dealing with the Finnish population.

Brain↗
PubMed1993

Choroidal rupture and optic atrophy.

The association between post-traumatic optic disc pallor and traumatic choroidal rupture is poorly understood. To further define this relationship, nine cases of indirect traumatic choroidal rupture and post-traumatic optic disc pallor were compared with cases of indirect choroidal rupture without disc pallor in terms of severity of ocular injury, fundus findings, and visual outcome. The type and severity of the injury did not appear to influence the risk of optic disc pallor. Optic disc pallor was associated with a slightly poorer long term visual acuity than eyes without pallor (p = 0.059). The presence of a relative afferent pupillary defect was strongly associated with optic disc pallor (p = 0.016). Peripapillary retinal pigment epithelial abnormalities were a common finding, suggesting peripapillary trauma as a cause for optic disc pallor.

Adolescent↗
PubMed1977

Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?

Twenty-one families were selected from the published reports in which the propositus had the triad of juvenile diabetes mellitus, diabetes insipidus, and optic atrophy. The data were consistent with the hypothesis of an autosomal gene which, in the homozygote, causes juvenile diabetes mellitus and one or more of diabetes insipidus, optic atrophy, and nerve deafness. Heterozygotes appear to have an increased probability of developing juvenile diabetes mellitus.

Child↗
PubMed1997

Dominant optic atrophy, Kjer type. Linkage analysis and clinical features in a large British pedigree.

OBJECTIVES: To perform DNA linkage studies in an extensive 5-generation British pedigree with dominant optic atrophy and to validate the efficacy of domiciliary screening for affected members. METHODS: Family members received a domiciliary examination based on corrected visual acuity, color vision, visual field defects, and optic disc appearance; DNA linkage analysis was performed using 7 microsatellite markers on 3q27-qter. RESULTS: Based on the results of the ophthalmic examination, 15 members could be classified as definitely affected, 1 probably affected, and 25 unaffected. Two-point linkage analysis gave significant maximum lod scores at theta [corrected] = 0.00, with the markers D3S3669, D3S3590, and D3S3642. A haplotype segregating with the disease was identified in affected individuals, including the probably affected subject. Informative meioses defined the disease interval between markers D3S1601 and D3S1265. CONCLUSIONS: Domiciliary screening was effective in identifying all 16 affected members of a British family with dominant optic atrophy. The typical clinical features were present. The location of the OPA1 gene in this new British family seems to be in the 3q27-28 region and is the same as that reported in Danish, Cuban, and French families, suggesting no genetic heterogeneity in this disorder.

Adult↗
PubMed1998

Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy.

OBJECTIVE: To assess phenotypic variation of affected individuals from British families with autosomal dominant optic atrophy. DESIGN: Eighty-seven patients from 21 families showing evidence of linkage to chromosome 3q were identified via the Genetic Clinic of Moorfields Eye Hospital, London, England. Genetic linkage analysis was carried out with markers from chromosome 3q28-qter. Patients underwent clinical examination and psychophysical and electrophysiological testing. RESULTS: Best-corrected visual acuity ranged from 20/20 (6/6 m) to light perception. Although visual acuity was not significantly worse in older patients in the group (chi2=3.20, df=4, P>.50), it did deteriorate with age in one third of the families. Subtle or temporal pallor of the optic disc occurred in 96 (55%) of 174 eyes and total atrophy in 76 (44%). Tritanopia was found in 6 (7.5%) of 80 patients; 65 (81.2%) had a mixed color deficit. A cecocentral scotoma was found in the vast majority. Peripheral motion detection threshold was elevated in areas of visual field with raised mean surround sensitivity but not elsewhere. Pattern visual evoked potentials were of reduced amplitude and delayed. Pattern electroretinograms showed a reduced N95 component in keeping with primary ganglion cell dysfunction. CONCLUSIONS: There is wide intrafamilial and interfamilial phenotypic variation in autosomal dominant optic atrophy, with visual function in some, but not all, families deteriorating with age. There is evidence of degeneration of the ganglion cell layer predominantly from central retina, but this is not the exclusive result of either parvocellular or magnocellular cell loss.

Adolescent↗
PubMed1977

Simultaneous occurrence of diabetes mellitus, diabetes insipidus, and optic atrophy in a brother and sister.

We report the cases of two siblings who died at age 21 and 15 years respectively. Both had optic atrophy, pitressinsensitive diabetes insipidus, and insulin-dependent diabetes mellitus, with onset occurring in early childhood. Although there are now 21 patients from 15 families with this syndrome, this is the first time that necropsy findings have become available. They include the expected atrophy of hypothalamic nuclei and degeneration of the optic nerves, chiasm and tract, as well as a totally unexpected degeneration of the pons and cerebellum.

Adolescent↗
PubMed1997

[A case of PEHO (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome: changes in clinical and neuroradiological findings].

We reported serial clinical, radiological, and neurophysiological findings of a patient with PEHO (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome. The case was a 4-year-and-8-month-old boy. He had no apparent problems during pregnancy, but after his birth severe hypotonia and developmental delay were evident. Infantile spasms appeared at 3 months of age, and progressive opisthotonic posture and loss of his visual acuity at 8 months. Eye fixation was lost, and optic atrophy was observed. Seizures and progressive atrophy of the cerebellum and brainstem developed during the same period. These findings of our case support the hypothesis that brainstem lesions are related to infantile spasms.

Brain Diseases↗
PubMed1979

Papilloedema and optic atrophy in chronic hypercapnia.

Two patients are described with hypercapnia of 10 and 13 years duration. Both patients had papilloedema at different stages of their illness and one patient developed optic atrophy. Whether such changes are due to local retinal vascular changes, general change in cerebral vasculature or the result of raised intracranial pressure is unknown. A combination of all seems likely. Computerized axial tomography brain scan on Case 2 was compatible with cerebral oedema and the development of optic atrophy (Case 1) suggests cerebral oedema and consequent raised intracranial pressure as the major factor in the development of papilloedema in hypercapnic patients. Skull radiographic changes have not previously been reported in hypercapnia. The duration of the papilloedema is critical in the development of atrophy.

Adult↗
PubMed1989

Hereditary motor and sensory neuropathy with optic atrophy. Ultrastructural and morphometric observations on nerve fibers, mitochondria, and dense-cored vesicles.

Nerve biopsy specimens from three cases of hereditary motor and sensory neuropathy with optic atrophy were studied by light and electron microscopy and by morphometry. All cases had a chronic neuropathy of the neuronal/axonal type with little, presumably secondary, demyelination. There was predominant reduction of the large-caliber population of myelinated and unmyelinated nerve fibers. The number of dense-cored vesicles in unmyelinated and small myelinated fibers was increased. Abnormal mitochondria in Schwann cells with paracrystalline inclusions, prominent cristae including paracrystalline material (cases 1 and 2), and axonal mitochondria with presumable hydroxyapatite crystals (case 3) were found. The morphologic results suggest that hereditary motor and sensory neuropathy with optic atrophy should be regarded as a separate entity within the hereditary motor and sensory neuropathy group.

Adolescent↗
PubMed1985

Differential diagnosis of congenital tritanopia and dominantly inherited juvenile optic atrophy.

To determine whether congenital tritanopia and dominantly inherited juvenile optic atrophy (DIJOA) are the same clinical entity, we used electroretinograms of the blue-sensitive cone system (blue cone ERGs), comparing those of two patients with congenital tritanopia from two pedigrees with those of four patients with DIJOA from two pedigrees. The examinations also included visual acuity and visual field tests, fundus examination, the dark-adaptation test, and several color vision tests. The blue cone ERG confirmed a difference between the two groups; it was unrecordable in the patients with congenital tritanopia but within the normal range in those with DIJOA. We believe that congenital tritanopia and DIJOA are distinct disease entities and that the blue cone ERG is a key factor in the differential diagnosis.

Adult↗
PubMed2004

Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population.

Wolfram syndrome (WFS) is a rare hereditary neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). WFS seems to be a heterogeneous disease that has not yet been fully characterized in terms of clinical features and pathophysiological mechanisms because the number of patients in most series was small. In this study we describe 31 Lebanese WFS patients belonging to 17 families; this, to our knowledge, is the largest number of patients reported in one series so far. Criteria for diagnosis of WFS were the presence of insulin-dependent diabetes mellitus and optic atrophy unexplained by any other disease. Central diabetes insipidus was found in 87% of the patients, and sensorineural deafness confirmed by audiograms was present in 64.5%. Other less frequent features included neurological and psychiatric abnormalities, urodynamic abnormalities, limited joint motility, cardiovascular and gastrointestinal autonomic neuropathy, hypergonadotropic hypogonadism in males, and diabetic microvascular disease. New features, not reported in previous descriptions, such as heart malformations and anterior pituitary dysfunction, were recognized in some of the patients and participated in the morbidity and mortality of the disease. Genetic analysis revealed WFS1 gene mutations in three families (23.5%), whereas no abnormalities were detected in mitochondrial DNA. In conclusion, WFS is a devastating disease for the patients and their families. More information about WFS will lead to a better understanding of this disease and hopefully to improvement in means of its prevention and treatment.

Adolescent↗
PubMed1984

Optic atrophy and the Wyburn-Mason syndrome.

A 14-year-old girl developed impaired vision and optic atrophy of the left eye as a manifestation of an orbital and parachiasmal arteriovenous malformation. Despite the lack of a retinal arteriovenous malformation, this condition appears to be a variant of the Wyburn -Mason syndrome, representing a vascular dysgenesis of the orbit and midbrain resulting in focal arteriovenous communications without interposed capillaries.

Adolescent↗
PubMed1984

Narrowing of the retinal arterioles in descending optic atrophy. A quantitative clinical study.

Measurements were made on fundus photographs of the diameters of retinal arterioles in a series of cases with various nonvascular lesions of the anterior visual pathways, before and after the development of fundus signs of optic atrophy. A simple method was devised for reliable estimation of the diameter of the central retinal artery whenever this vessel could not be measured directly: this allowed comparisons to be made between different eyes, irrespective of individual variations in arteriolar branching patterns. Atrophy was consistently associated with a decrease in central retinal artery caliber, averaging 24% in eyes developing total optic atrophy, and 17% in eyes with hemi-atrophy. Normal controls showed a maximum side difference of 8%.

Adolescent↗
PubMedDate not supplied

Optic atrophy.

A young woman became suddenly aware of visual loss in her left eye. She was found to have optic atrophy giving chronicity to the disease process. A hypopigmented macule on her face along with neuroimaging studies suggested an inflammatory process. A biopsy of the skin lesion was compatible with sarcoidosis. The patient responded to corticosteroid therapy.

Adult↗