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Results for “Optic Atrophy”

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At least 181 records · Page 10Linked to original sources
PubMed2002

[A novel mutation of the type 1 optic atrophy(OPA1) gene in a Japanese family with OPA1].

PURPOSE: To report a novel mutation of the type1 optic atrophy(OPA1) gene in a Japanese family with OPA1 and to describe the clinical features of this family. METHODS: Standard ocular examinations were performed on the proband and his two affected sons. The DNA sequence of all exons and splice sites of the OPA1 gene was determined to detect mutations. RESULTS: The proband and his sons had a heterozygous mutation of the OPA1 gene in the third nucleotide of intron 12(IVS12 + 3A-->T). Clinically, each patient had reduced visual acuity(onset within the first 6 years of life) and optic nerve pallor. The proband showed a central scotoma and generalized dyschromatopsia. This is the first report of OPA1 gene mutation in Japanese patients with familial optic atrophy. CONCLUSIONS: A mutation of the OPA1 gene was detected in a Japanese family with OPA1, which follows the same pattern as reported in Western countries. It is suggested that mutations of the OPA1 gene contribute to the development of optic nerve atrophy regardless of ethnic groups. Screening for the OPA1 gene mutation will be useful for diagnosis of OPA1 in Japanese patients.

Base Sequence↗
PubMed1986

Coexistence of diabetes mellitus, optic atrophy, and sensorineural deafness: case report.

The association of diabetes mellitus, optic nerve atrophy, and sensorineural deafness is a rare but distinct syndrome. We describe an 18-year-old woman who developed diabetes mellitus at three years of age, sensorineural deafness at 14 years of age, and bilateral asymptomatic optic atrophy at 18 years of age. Diabetic retinopathy was notably absent. Forty-two patients with diabetes mellitus and optic atrophy have been described. All had type I diabetes mellitus without typical diabetic retinopathy even though insulin-dependent diabetes mellitus was present for many years. Other neurologic abnormalities, including diabetes insipidus, epilepsy, and nystagmus, have been described in association with diabetes mellitus and optic atrophy. A distinct, heredofamilial genetic mechanism, unrelated to diabetes mellitus per se, is postulated.

Adolescent↗
PubMed1987

Traumatic optic atrophy caused by compressed air.

A six-year-old boy who developed optic atrophy after an injury with the inner tube stem of a truck tire is described. The air stem penetrated the inferonasal portion of the left orbit and discharged air. The patient presented for evaluation within one hour and had no light perception in the involved eye. Computed tomography of the orbit revealed multiple small air bubbles surrounding the optic nerve sheath without direct optic nerve edema. It is postulated that the etiology of optic atrophy is related to the air surrounding the optic nerve, which interrupted its vascular supply. Proper covering of the air stem can prevent similar accidents.

Accidents, Home↗
PubMed1991

Optic atrophy as a complication of neonatal alloimmune thrombocytopenia.

A five-month-old girl with optic atrophy presented porencephaly on computerized tomography of the brain. Diffuse intracranial hemorrhages occurred in the neonatal period as a result of thrombocytopenia. As the maternal platelets were negative for the platelet antigens, the diagnosis of neonatal alloimmune thrombocytopenia was made. The present case shows that optic atrophy as a single finding can lead to the diagnosis of a rare disorder.

Autoimmune Diseases↗
PubMed1997

Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy.

Three siblings are reported with childhood onset hereditary motor and sensory neuropathy (HMSN) and adult onset optic atrophy. Electrophysiological studies showed an axonal neuropathy and dysfunction of the retinal ganglion cells or optic nerve. The presumed mode of inheritance is autosomal recessive. This is the second family in which autosomal recessive inheritance of HMSN and optic atrophy (HMSN type VI) has been described, and the first in which electrophysiological studies have been reported.

Aged↗
PubMed1982

The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities (DIDMOAD-syndrome). Two affected sibs and a short review of the literature (98 cases).

We describe two sibs with DIDMOAD-Syndrome, a 19-year-old girl with diabetes mellitus (type I), optic atrophy, inner-ear deafness, and atonia of the urinary tract, and her 5-year-old brother with diabetes mellitus (type I) and optic atrophy. Studies of red blood cell insulin receptors revealed a normal number of receptors per cell and normal affinity to insulin. The syndrome represents an autosomal recessively inherited type of diabetes mellitus, which remains often undiagnozed since most of the symptoms except diabetes mellitus and optic atrophy occur with varying expressivity. An atonia of the efferent urinary tract often with fatal complications is present in 46% of all patients with this syndrome reported in the literature and is unfortunately not included in the acronym DIDMOAD.

Adult↗
PubMed1977

Juvenile diabetes mellitus and optic atrophy.

Nine patients with the syndrome of juvenile diabetes mellitus and optic atrophy exemplified the wide range of manifestations of this syndrome. The disease may occur as a recessively inherited or sporadic disorder and tends to have multi-system involvement. Hearing loss, diabetes insipidus, and evidence of cerebellar or central vesitbulo-ocular dysfunction are common.

Adolescent↗
PubMed2000

Childhood optic atrophy.

PURPOSE: To determine the causes, and relative incidence of the common causes, of optic nerve atrophy in children under 10 years old and to compare prevalent aetiologies with those given in previous studies. METHODS: The Wilmer Information System database was searched to identify all children, diagnosed between 1987 and 1997 with optic atrophy, who were under 10 years old at diagnosis. The medical records of these children were reviewed retrospectively RESULTS: A total of 272 children were identified, Complications from premature birth were the most frequent aetiology of optic atrophy (n = 44, 16%); 68% of these premature infants having a history of intraventricular haemorrhage. Tumour was the second most common aetiology (n = 40, 15%). The most frequent tumour was pilocytic astrocytoma (50%), followed by craniopharyngioma (17%). Hydrocephalus, unrelated to tumour, was the third most common aetiology (n = 26, 10%). In 114 cases (42%), the cause of optic atrophy became manifest in the perinatal period and/or could be attributed to adverse events in utero. A cause was not determined in 4% of cases. CONCLUSIONS: In the last decade, prematurity and hydrocephalus appear to have become important causes of optic atrophy in childhood. This trend is probably the result of improved survival of infants with extremely low birth weight.

Baltimore↗
PubMed1979

Creutzfeldt-Jakob disease and optic atrophy.

A 49-year-old man developed ataxia, myoclonic jerks, cortical blindness, and dementia. In 3 1/2 months, he rapidly deteriorated and died. Clinical and autopsy diagnosis confirmed Creutzfeldt-Jakob disease. The eyes were examined and bilateral optic atrophy was noted. No other ocular changes were noted. Optic atrophy had not been noted before death.

Cornea↗
PubMed1987

Autosomal recessive hereditary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs.

A syndrome is described, consisting of severe neurogenic distal wasting, generalised muscle weakness, absent ankle reflexes, pyramidal signs, mental retardation, optic atrophy and retinal colloid bodies. A sural nerve biopsy from one case showed loss of nerve fibres suggesting the diagnosis of hereditary motor and sensory neuropathy. Progression of the disorder was very slow, all patients still being able to walk more than 20 years after the onset. The persons affected with this syndrome were two brothers and their female cousin from a large Gujerati pedigree where consanguinity was high. Autosomal recessive inheritance is therefore suggested.

Adult↗
PubMed1990

Optic nerve head extracellular matrix in primary optic atrophy and experimental glaucoma.

Unilateral glaucomatous optic neuropathy and optic nerve transections were produced in cynomolgus monkeys, and the optic nerve heads were examined by light and electron microscopic immunohistochemistry. Glaucomatous nerve heads showed increased labeling for collagen type IV along the margins of beams in the lamina cribrosa, due to accumulation of basement membrane-like materials. We also noted material in the pores of the laminar beams that labeled with antibodies to collagen types I, III and IV, but not elastin. In transected eyes, increased type IV labeling of laminar beam margins resulted solely from redundant astrocyte basement membranes. Extracellular matrix deposition within laminar pores was not observed following optic nerve transection; hence this may be a selective response to elevated intraocular pressure. This response may alter the biochemical composition of the lamina cribrosa and its function in patients with elevated intraocular pressure.

Animals↗
PubMed2004

Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer.

PURPOSE: Autosomal dominant optic atrophy (ADOA) is characterized by primary degeneration of retinal ganglion cells and atrophy of the optic nerve. The OPA1 gene encodes a 960-amino-acid protein. In the current study the temporal and spatial localization of OPA1 were examined in developing and adult murine ocular tissues and the adult human eye. Because the Bst/+ mouse has been postulated as a model of ADOA, the mOPA1 expression in the Bst/+ retina was also examined. METHODS: A polyclonal antibody generated against a C-terminal peptide of OPA1 was used to assess by immunohistochemistry the expression of mOPA1 in the wild-type embryonic and postnatal mouse ocular tissues and the Bst/+ retina. Western blot analyses of total proteins from a panel of adult human tissues were used to examine the expression of human OPA1, and spatial localization was assessed by immunohistochemistry. RESULTS: The ocular expression of mOPA1 begins at E15 in the inner retina in a location corresponding to that of the subsequently developing ganglion cell layer (GCL) and peaks between postnatal day (P)0 and P1 in the retina and the optic nerve. There is a sharp decline in mOPA1 expression after P2, but it is expressed at a basal level until at least P12 in the GCL, inner plexiform layer (IPL), and inner nuclear layer (INL) of the retina as well as in the optic nerve. In the adult Bst/+ retina, mOPA1 is strongly expressed in the GCL and IPL and weakly in the INL. In the adult human eye, OPA1 is expressed in the GCL, IPL, INL, and outer plexiform layer (OPL) of the retina and in the optic nerve, where it is observed only in the myelinated region. CONCLUSIONS: OPA1 is not restricted to the GCL of the mammalian retina, and its expression extends into the IPL, INL, and OPL. OPA1 is distinctly expressed in the myelinated region beyond the lamina cribrosa in the human optic nerve, whereas its expression is weaker in the mouse optic nerve. In the Bst/+ mouse retina, despite the structural defects, mOPA1 expression is comparable to that observed in the wild-type adult mouse retina. These observations suggest a wider role for OPA1 than previously anticipated.

Aged↗
PubMed1995

Flash and pattern electroretinogram changes with optic atrophy and glaucoma.

We investigated recent reports that, contrary to common belief, glaucoma can affect flash as well as pattern electroretinograms. An extensive flash and pattern electroretinogram test protocol was used in a large sample of glaucoma patients and age-matched controls who were either visually normal or had other optic nerve diseases. All electroretinogram parameters were reduced and delayed in normal people > 55 years of age. The effect did not increase in later decades. In patients aged < or = 55 years, flash electroretinograms showed mild reductions and delays from optic atrophy alone. Glaucomatous ERG changes were larger and increased with disease severity. Pattern electroretinograms and oscillatory potentials were almost equally reduced in optic atrophy and all degrees of glaucoma. Mildly affected patients > 55 years of age had similar electroretinogram change to age-matched normals in most conditions. Advanced glaucoma patients showed similar differences from normal irrespective of age. This suggests that direct diagnostic application of these results to older patients will be difficult, that the ERG changes in glaucoma cannot be attributed simply to optic atrophy and that additional widespread outer retinal damage occurs in glaucoma.

Age Factors↗
PubMed1985

Studies in dominant optic atrophy.

The study of six families with dominant optic atrophy (DOA) originating from the neighbourhood of Leiden revealed that four could be connected through a common ancestor. A detailed analysis of 89 patients permitted a subdivision of the three remaining families into two groups: one with on the average a low visual acuity (less than 0.1) and the other with a moderately reduced visual acuity (+/- 0.35). Furthermore, differences in colour vision were observed. Genetic heterogeneity is thought to be at the root of these differences.

Adolescent↗
PubMed2001

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.

Dominant optic atrophy (DOA) is a hereditary optic neuropathy characterised by decreased visual acuity, colour vision deficits, centro-coecal scotoma and optic nerve pallor. The gene OPA1, encoding a dynamin-related GTPase, has recently been identified within the genetic linkage interval for the major locus for DOA on chromosome 3q28 and shown to harbour genetic aberrations segregating with disease in DOA families. The prevalence of the disorder in Denmark is reported to be the highest of any geographical location, suggestive of a founder effect. In order to establish the genetic basis of disease in a sample of 33 apparently unrelated Danish families, we screened DNA from affected members for OPA1 gene mutations by heteroduplex analysis and direct sequencing. A novel identical mutation in exon 28 (2826delT) was associated with DOA in 14 pedigrees and led to a frameshift and abnormal OPA1 protein -COOH terminus. Haplotype analysis of a region of approximately 1 Mb flanking the OPA1 gene using eight polymorphic markers revealed a common haplotype shared by all 14 patients; this haplotype was markedly over-represented compared with ethnically matched controls. Statistical analysis confirmed significant linkage disequilibrium with DOA over approximately 600 kb encompassing the disease mutation. We have therefore demonstrated that the relatively high frequency of DOA in Denmark is attributable to a founder mutation responsible for approximately 42% of the examined families and suggest that presymptomatic screening for the (2826delT) mutation may facilitate diagnosis and genetic counselling in a significant proportion of DOA patients of Danish ancestry.

Alleles↗
PubMed1997

Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity.

Dominant optic atrophy, Kjer type, is an autosomal dominant disorder causing progressive loss of visual acuity and colour vision from early childhood. The gene (OPA1) has variable expressivity, a penetrance of 0.98, and the locus has been localised to 3q28-29. We have genotyped nine British families with the disease using 12 polymorphic microsatellite markers from this region. Linkage and haplotype analysis shows the OPA1 gene to be located in a 2.3 cM interval between markers D3S1601 and D3S2748. One family showed no evidence of linkage with the chromosome 3 markers, suggesting for the first time that locus heterogeneity for this disease may exist, although exclusion for linkage is based on unaffected subjects. In addition, analysis of recombinants has enabled us to order the 12 markers along chromosome 3.

Adolescent↗
PubMed1997

Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig.

Dominant optic atrophy, type Kjer, is an autosomal dominant eye disease that is characterized by progressive optic atrophy with onset in early childhood, decrease of visual acuity, colour vision defects and centrocecal scotoma. By examination of 5 Danish families and the use of polymorphic markers, we have refined the localization of the OPA1 locus and assigned it to a 1.4-cM interval on chromosome 3q28-3q29, between markers D3S3669 and D3S3562. This localizes the gene on a 3-Mb YAC contig covering the disease locus. We have also located a possible candidate gene HRY to this contig.

Chromosome Mapping↗