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Results for “Optic Atrophy”

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At least 73 records · Page 4Linked to original sources
PubMed1997

Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)

OBJECTIVES: To refine the dominant optic atrophy locus, OPA1, on chromosome 3q and to characterize the phenotype of a 6-generation family pedigree affected with this disease. METHODS: Fifty-six family members had a complete eye examination. Clinical records of an additional 3 patients were reviewed. Goldmann perimetry and a 21-chip subtest of the Farnsworth-Munsell 100-Hue test were performed on selected patients. Affected patients, unaffected siblings, and potentially informative spouses were genotyped with short tandem repeat polymorphisms located on chromosome 3. The genotypic data were subjected to linkage analysis. RESULTS: Thirty-four family members were found to be clinically affected. Most experienced vision loss (20/40 or poorer) in the first decade of life. Most (9 of the 16 eyes) progressed to 20/800 or poorer visual acuity by age 60 years, while 2 patients maintained visual acuities of 20/40 at that age. Affected patients had a 2- to 10-fold increase in the error score of a 21-chip subtest of the Farnsworth-Munsell 100-Hue test compared with age-matched unaffected family members. The optic nerve examination revealed temporal pallor and excavation in all affected individuals. Linkage analysis revealed significant lod scores with 9 markers. The highest lod score, 10.1 (theta = 0) [corrected], was obtained with marker D3S2305. Analysis of recombinants narrowed the disease interval to approximately 3.8 centimorgans, flanked by D3S3669 (centromeric) and D3S1305 (telomeric). CONCLUSIONS: Most patients affected with dominant optic atrophy in this family progressed to legal blindness by middle age. Color vision testing is a sensitive method for detection of affected patients. The dominant optic atrophy locus, OPA1, has been refined by the identification of new flanking markers: D3S3669 (centromeric) and D3S1305 (telomeric).

Adolescent↗
PubMed2006

Short wavelength-automated perimetry compared with standard achromatic perimetry in autosomal dominant optic atrophy.

BACKGROUND: Autosomal dominant optic atrophy (ADOA, Kjer-type) is a heterogeneous, non-inflammatory degeneration of retinal ganglion cells. The diagnosis of ADOA can be challenging owing to its insidious onset and large variability in phenotypic expression, both within and between individual pedigrees. The earliest literature reports relatively mild centrocaecal scatomas to white targets in ADOA, but extensive and dense peripheral field loss to coloured targets, especially blue, with Bjerrum perimetry. The phrase "inverted peripheral visual fields to coloured targets" has been used to describe this phenomenon. METHODS: Humphrey standard achromatic perimetry (SAP) and short wavelength-automated perimetry (SWAP) were carried out on five patients with ADOA. RESULTS: Regardless of wide variations in patient age, visual acuity, disc appearance and colour vision, the SWAP mean deviation (MD) was between 10 and 20 times more depressed than the SAP MD. The actual differences ranged from 9.38 to 13.78 dB. CONCLUSIONS: These data are consistent with the original reports suggesting that, early in this disease process, the blue-target deficits are typically peripheral and that this difference between SAP and SWAP perimetry may be a robust indicator of ADOA in both early and late stages of this disease.

Adolescent↗
PubMed2006

OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy.

PURPOSE: Autosomal dominant optic atrophy is a form of blindness, due in part to mutations affecting the mitochondrial-targeted OPA1 gene product. Both OPA1-positive and OPA1-negative families exhibit variable expressivity and incomplete penetrance. The purpose of this study was therefore to determine if the background mtDNA genotype acts as a genetic modifier for the expression of this disease. METHODS: To find novel pathogenic OPA1 mutations, we performed complete OPA1 gene exon sequencing in 30 patients. To assess the possibility that mitochondrial DNA haplotype acts as a genetic modifier, we determined the mitochondrial DNA haplotype in 29 Caucasian OPA1-positive and OPA1-negative patients. Deviations in haplotype distribution between patient and control groups were determined by statistical means. RESULTS: Seven new pathogenic OPA1 mutations were found. Most were detected in the mitochondrial targeting N-terminus or in the coiled-coil domain at the C-terminus. Mitochondrial DNA haplotype analysis indicated that the European haplogroup distribution was different between Caucasian patients and controls. Further, haplogroup J was three-fold over-represented in OPA1-negative patients. CONCLUSIONS: Overall, our results support haploinsufficiency as a genetic mechanism in OPA1-positive cases and also suggest that mtDNA genetic background may influence disease expression in a subset of cases.

Adolescent↗
PubMed1998

Orbital hydrocephalus: a proven cause for optic atrophy.

A 4-year-old boy with bilateral optic sheath enlargement and progressive optic atrophy and blindness is presented. Computed tomography demonstrated hydrocephalus and enlargement of the optic nerve sheath complex. The child died during an attempted repair of hypoplastic atrioventricular valves. Autopsy demonstrated a patulous perioptic subarachnoid space and optic atrophy. This condition has been described in the literature but has not had radiologic-pathologic correlation. With the availability of magnetic resonance imaging, this diagnosis may be made prospectively, thus, it is important for the radiologist to be aware of this entity because optic atrophy and blindness may be prevented by early diagnosis and surgery.

Abnormalities, Multiple↗
PubMed1985

Variable severity in autosomal dominant optic atrophy.

There are some indications in the literature on autosomal dominant optic atrophy that there are two genetic types - a congenital and a post-natal. This paper reviews the ocular findings of three affected members of a family with autosomal dominant optic atrophy - a father and two daughters - which appear to fit the criteria for a 'congenital' type of optic atrophy. Comparison with an additional 17 cases indicates that those with an early or congenital onset are at the more severe end of a distribution curve of involvement. The less severely affected patients were older and often had passed many years with little or no visual difficulties. Such variation is a recognized feature of autosomal dominant inheritance and is the basis for suggesting that there is probably only one genetic locus for autosomal dominant optic atrophy.

Adolescent↗
PubMed2005

Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.

Autosomal dominant optic atrophy (ADOA) is the most common form of inherited optic atrophy. Four genetic loci have been associated with ADOA: OPA1, OPA2, OPA3, and OPA4. Out of these four loci, only one gene has been identified, OPA1. We previously described a unique syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia in two unrelated families associated with an R445H mutation in OPA1. The R445H mutation is the only OPA1 mutation that has been associated with this syndrome. In this manuscript, we clinically characterize an unrelated family with four members affected by optic atrophy and hearing loss without extraocular motility abnormalities or ptosis. This family also harbors the R445H mutation. These cases help illustrate the intra- and inter-family variability in phenotype associated with this mutation. As we continue to learn more about OPA1 and the function of its protein product, we will begin to understand the pathophysiology of optic atrophy. This understanding will ultimately lead to novel treatments directed toward preventing the visual loss and disability associated with this inherited disease.

Adult↗
PubMed1998

Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY.

Autosomal dominant optic atrophy (OPA1) maps to Chromosome (Chr) 3q28, and the disease interval has been refined to within 1.4 cM, flanked by the markers D3S3669 and D3S3562. HRY, the human homolog of the Drosophila segmentation gene, hairy, maps by in situ hybridization to the chromosomal region 3q28-q29. We screened for mutations in HRY in 36 patients from 18 pedigrees with dominant optic atrophy and a group of normal control individuals. Heteroduplex mutation analysis and direct sequencing of all four coding exons and one upstream putative untranslated exon were performed. No disease-associated sequence alterations were identified. A polymorphism in the untranslated region of exon 2 was found, with four alleles. PCR amplification of this part of exon 2 in four of the pedigrees affected by autosomal dominant optic atrophy mapping to chromosome 3q, followed by haplotype analysis, showed recombination between HRY and OPA1 in one pedigree. This allows us to genetically position HRY in relation to known microsatellite markers in the region, placing HRY telomeric to marker D3S3562 and centromeric to D3S1305. This is outside the published critical disease interval for dominant optic atrophy. We have, therefore, excluded HRY as the gene for dominant optic atrophy by sequence analysis, mapped it genetically, and identified a polymorphism in our population.

Animals↗
PubMed2003

A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.

PURPOSE: To report a novel mutation of the OPA1 gene in a Japanese patient with optic atrophy and to describe the clinical features of the patient. DESIGN: Observational case report. METHODS: Genomic DNA was extracted from leukocytes of four unrelated Japanese patients with optic atrophy. All the exons and splice sites of the OPA1 gene were amplified by polymerase chain reaction and directly sequenced. RESULTS: One patient with optic atrophy had a heterozygous Arg445His mutation in the OPA1 gene. The Arg445His mutation was detected neither in 110 control subjects nor in the patient's healthy family members. CONCLUSIONS: A novel mutation of the OPA1 gene, similar to those reported in Western countries, was detected in a Japanese patient with optic atrophy. Mutations of the OPA1 gene may contribute to the development of optic nerve atrophy in Japanese cases of optic atrophy.

Adolescent↗
PubMed1991

Hereditary motor and sensory neuropathy (HMSN) and optic atrophy (HMSN type VI, Vizioli).

Clinical and electrophysiological findings are described in three patients with hereditary motor and sensory neuropathy in association with optic atrophy (HMSN VI). The optic atrophy was of the Leber type in a 15-year-old boy. In a 70-year-old patient, as in three members of his family, optic atrophy was associated with tapetoretinal degeneration. In addition to HMSN and optic atrophy a 20-year-old man suffered from sensorineural deafness. Electrophysiological studies indicated a neuronal form of neuropathy, as in HMSN II. Brainstem auditory evoked potentials also revealed subclinical involvement of the central auditory pathways in the patients without hearing defects.

Adolescent↗
PubMedDate not supplied

[The efficacy of transcutaneous electrostimulation of the visual system in partial optic atrophy].

Effects of transcutaneous electric stimulation of the eyes on vision acuity, visual field, electric sensitivity, electric lability, Hanzfeld ERG and macular ERG were studied in 260 patients with partial atrophy of the optic nerve of various origins and with different degrees of visual function loss. Dispersion analysis of random samples showed that changes in each characteristic after electric stimulation depended on the initial value of this parameter: in general, the more manifest were deviations from the norm, the more marked was the improvement of this or that function. A conclusion is made on physiological nature of electric stimulation method used for the treatment of optic nerve atrophy.

Adolescent↗