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PubMed2005

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

The heterozygous R445H mutation in OPA1 was found in five patients with optic atrophy and deafness. Audiometry suggested that the sensorineural deafness resulted from auditory neuropathy. Skin fibroblasts showed hyperfragmentation of the mitochondrial network, decreased mitochondrial membrane potential, and adenosine triphosphate synthesis defect. In addition, OPA1 was found to be widely expressed in the sensory and neural cochlear cells of the guinea pig. Thus, optic atrophy and deafness may be related to energy defects due to a fragmented mitochondrial network.

Adolescent↗
PubMed1995

[Correlation between clinical and molecular genetic findings in Leber's optic atrophy].

Leber's hereditary optic neuropathy (LHON) is associated with point mutations of mitochondrial DNA (mtDNA) that appear to be pathogenetic for this disease. These mutations affect nucleotide positions 3460, 4160, 11,778, 14,484, and possibly 15,257. The pathogenetic significance of other mtDNA point mutations (secondary mutations) is less clear. We reviewed the clinical and molecular genetic characteristics of 29 visually symptomatic patients from 26 families. In addition, we studied 54 relatives of the maternal line of these patients. Sixteen of them underwent clinical and molecular genetic examination; 38 underwent only molecular genetic examination. The 29 affected individuals showed a male predominance of 93.1% (27/29) and ages of onset of visual loss ranging from 15 to 55 years. The time interval between affected eyes was never longer than 1 year. Tobacco and/or alcohol abuse was common. Peripapillary microangiopathy was found in 20.7% (6/29) of our patients. The number of patients with peripapillary microangiopathy seems to be small, but we could not examine all patients early after onset of the disease: the time of first examination is critical for the diagnosis of peripapillary microangiopathy. From the 16 relatives who underwent clinical examination, 62.5% (10/16) also had peripapillary microangiopathy. Eighteen patients were analyzed by brain computed tomography or magnetic resonance imaging. Four definitely pathological results seem remarkably high in comparison with the results of other authors. Our LHON patients and their relatives invariably had an identical pattern of point mutations, both primary as well as secondary. Of the LHON patients, 79.3% had the primary mutation at position 11,778, 20.7% at position 3460. Different numbers and combinations of secondary mutations were observed in a large portion of both groups. Three patients with the 11,778 mutation noticed remarkable visual recovery. There was no clear correlation between the type and number of point mutations in the individual and the severity of the disease.

Adolescent↗
PubMed1984

Visual acuity in optic atrophy: a quantitative clinicopathological analysis.

Analysis of clinicopathological data from 14 eyes with optic atrophy from various causes revealed a simple relationship between visual acuity and the number of surviving axons in the temporal quadrant of the optic nerve head. This provides support for the theory that the minimum angle of resolution (inverse of visual acuity) is directly proportional to the spatial separation of transmitting foveal cones. The theory allows estimation of the functional fraction of foveocortical neural channels from clinical acuity measurements.

Adult↗
PubMed1994

Remodelling of the retinal arterioles in descending optic atrophy follows the principle of minimum work.

Mathematical modelling indicates that the minimum energy cost for blood flow is achieved when the arteries are arranged in a branching hierarchy such that the radii of the vessels are adjusted to the cube root of the volumetric flow (principle of minimum work). This is known to apply over several magnitudes of vessel calibres, and in many different organs, including the brain, in humans and in animals. This paper addresses the issue of remodelling of one and the same arterial network to long-term changes in blood flow. This has not been studied previously in humans. We measured the radius of parent (r0) and branch segments (r1 and r2) of the retinal arteriolar network in fundus photographs of six patients with blinding, non-vascular retrobulbar optic nerve lesions, mostly traumatic in origin, before and after the development of descending optic atrophy. Attenuation of retinal arterioles is a well-known phenomenon in descending optic atrophy, and is attributable to decreased metabolic demand secondary to loss of the retinal ganglion cells and their axons. On average, arteriolar diameters decreased by 15.2 +/- 17.7% (SD), with 95% confidence intervals of 18.7% and 11.7%; the radii decreased significantly (P = 0.0001) (n = 99). The area ratio of the bifurcations, defined as (r2(1) + r2(2))r-2(0), was 1.23 +/- 0.2 before, and 1.18 +/- 0.2 after optic atrophy (n = 36); the change of area ratio was not significant. The branching geometry of the retinal arteriolar network obeyed strictly the optimum branching rule of the principle of minimum work, or r3(0) = r3(1) + r3(2).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed2006

[Observation on improving action of acupuncture combined with Chinese medicine on visual function of optic atrophy].

OBJECTIVE: To observe effect of acupuncture combined with Chinese medicine for improving vision on visual function of optic atrophy. METHODS: Fifty-eight cases were randomly divided into an observation group of 30 cases and a control group of 28 cases. The observation group were treated with acupuncture combined with Chinese medicine, and the control group with Chinese medicine. Their visual function improvement and therapeutic effects were compared. RESULTS: The vision increasing rate was 75.76% in the observation group and 56.67% in the control group, with a significant difference before and after treatment in the observation group (P < 0.05) and no significant difference in the control group (P > 0.05), and with significant difference between the two groups (P < 0.001). After treatment, no significant improvement was found in visual field and color sense in the two groups. CONCLUSION: Acupuncture combined with Chinese medicine can improve visual function of optic atrophy to a certain extent.

Acupuncture Therapy↗
PubMed2006

Case report of optic atrophy in pansynostosis: an unusual presentation of scalp edema from hair braiding.

Pansynostosis (fusion of all cranial sutures) and optic atrophy were found as incidental CT scan and ophthalmological findings in an 8-year-old who presented to the emergency room with scalp edema from tight 'cornrow' hair braiding. Cranial vault expansion was successfully performed. Ophthalmological problems have stabilized but have not reversed. Late presentation of craniosynostosis and the pathophysiology of secondary optic atrophy are discussed.

Child↗
PubMed2002

[Traction retinal detachment, optic atrophy, apallic syndrome after shaking trauma in an infant].

INTRODUCTION: Ophthalmological examinations are important in children with suspected shaken baby and/or battered child syndrome. Retinal and epiretinal haemorrhages can indicate non-accidental injuries. We observed a case of extensive retinal hemorrhages, edema of the optic disc followed by development of optic atrophy, neovascularisation and tractional retinal detachment over the course of months. CASE REPORT: A 6-week-old infant with no history of systemic disease or trauma was admitted to the children's hospital because of a disorder of consciousness, respiratory insufficiency, taut fontanel and dilated pupils with sluggish reaction to light. A subdural haematoma was diagnosed. Ophthalmological examination showed no signs of trauma in the anterior segment. Ophthalmoscopy revealed extensive retinal haemorrhages and swollen optic nerve heads. During the next months optic atrophy, subretinal fibrosis at the posterior pole, neovascularisation at the optic disc and non-rhegmatogenous retinal detachment developed. The child is in a persistent vegetative state. DISCUSSION: Non-accidental injuries can cause direct trauma and indirect traumatic sequelae. Retinal haemorrhages, especially in conjunction with unexplained trauma or changes of consciousness should arouse suspicion of shaken baby syndrome. The ophthalmologist should emphasize this and strongly recommend further investigation if not previously undertaken.

Battered Child Syndrome↗
PubMed1994

Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation.

A 12-year-old girl presents with optic atrophy, pale papilla, amblyopia and microcephaly (-3 s.d.) with mild mental retardation and facial dysmorphism. She had mitral insufficiency with mitral prolapse and moderate short stature (-2.5 d.s.). She had normal flash visual evoked potentials, normal electroretinograms and electrooculograms and normal cranial CT scan as well as other lab tests to rule out malformations, tumors or multiple sclerosis. Her lymphocyte karyotype showed a variegated mosaicism with: 2 cells with 49, XX, +mar,+mar,+mar; 21 cells with 48, XX, +mar,+mar; 57 cells, with 47, XX,+mar; 20 cells with 46,XX; while parental karyotypes were normal. This syndrome therefore associates optic atrophy, mental retardation and microcephaly and short stature with chromosomal instability in the form of variegated mosaicism.

Abnormalities, Multiple↗
PubMed1997

A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome.

The aim of this study was to identify the chromosomal location of the disease-causing gene in a family apparently segregating X-linked optic atrophy. A large family of 45 individuals with a four-generation history of X-linked optic atrophy was reexamined in a full ophthalmic as well as electrophysiological examination. A DNA linkage analysis of the family was undertaken in order to identify the chromosomal location of the disease-causing gene. Linkage analysis was performed with 26 markers that spanned the entire X chromosome. The affected males showed very early onset and slow progression of the disease. Ophthalmic study of the female carriers did not reveal any abnormalities. Close linkage without recombination was found at the MAOB locus (maximum LOD score [Zmax] 4.19). The Zmax - 1 support interval was found at a recombination fraction of .076 distal and .018 proximal to MAOB. Multipoint linkage analysis placed the optic atrophy-causing gene in the Xp11.4-p11.21 interval between markers DXS993 and DXS991, whereas any other localization along the X chromosome could be excluded.

Adolescent↗
PubMed1997

Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene.

Iraqi-Jewish optic atrophy plus is an autosomal recessive condition characterized by infantile optic atrophy, an early onset movement disorder, and 3-methylglutaconic aciduria. Other features include spastic paraplegia, mild ataxia, mild cognitive deficiency and dysarthria. This disorder was identified in inbred Iraqi-Jewish kindreds in which relationships between most of the affected individuals were unknown. In this study we identify linkage to chromosome 19q13.2-q13.3 by using a DNA pooling strategy to perform a genome wide screen followed by a high density search for shared segments among affected individuals in candidate regions identified in the initial genome wide screen. A significantly high positive lod score of 6.14 at zero recombination was obtained for the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene. The existence of multiple recombinant individuals indicates the disease interval can be further narrowed with additional markers. Linkage disequilibrium was seen in six polymorphic markers across a 1 Mb interval. This region is well characterized and contains several candidate genes.

Chromosome Mapping↗
PubMed1997

Refinement of the locus for autosomal dominant juvenile optic atrophy to a 2 cM region on 3q28.

Juvenile optic atrophy (Kjer type; OPA1) is an autosomal dominant trait with an insidious onset in the first decade of life. The condition is characterized by a progressive loss of visual acuity that usually occurs with severe defects in color vision and visual fields. Genetic linkage analysis of a number of families has already assigned the OPA1 locus to the 3q28-qter region, within an estimated region of about 8 cM that is flanked by D3S1601 and D3S1265. Our study of a four-generation English family also supported tight linkage between the OPA1 locus and a group of DNA markers from the reported region. Of the 13 markers genotyped in this family, D3S2305 provided the maximum LOD score of 3.91 at theta = 0.00. Inspection of the haplotype transmission in this family identified critical recombinant individuals that refined the location of the OPA1 locus to an estimated region of about 2cM that is flanked by two DNA markers of D3S1601 and D3S2748. This refinement should facilitate the molecular cloning of the OPA1 gene and the determination of its defective product.

Alleles↗
PubMed2003

Hereditary motor and sensory neuropathy type VI with optic atrophy.

PURPOSE: To present the detailed clinical findings of a large family with hereditary motor and sensory neuropathy type VI (HMSN VI), a syndrome featuring optic atrophy. DESIGN: Observational case series. METHODS: A detailed history was obtained and physical examination was made of the extended family of the proband for evidence of neurologic dysfunction. The OPA1 gene was screened for mutations by direct DNA sequencing. RESULTS: Twelve of 97 family members examined are affected with signs of HMSN VI. Three other members have either optic atrophy or peripheral neuropathy, thus allowing an appreciation of the full clinical spectrum of disease. No mutations were found in the OPA1 gene. CONCLUSIONS: This family demonstrates the variable expressivity of this disorder as well as incomplete penetrance. This is the largest known family with HMSN VI. No association was found with changes in the OPA1 gene.

Adult↗
PubMed1988

[Bilateral occipital calcifications, optic atrophy and juvenile maculopathy: retrograde transsynaptic degeneration?].

The unusual combination of bilateral occipital calcification in the area of the calcarine fissure, optic atrophy and macular changes was seen in a four-year-old girl. Corrected visual acuity was R 0.1 and L 0.5. There was irregular concentric narrowing of the visual fields. The ERG was normal, but the latencies of visually evoked potentials were markedly prolonged. The course was nonprogressive over seven years. The pathogenesis of the occipital calcification remains unexplained; the authors tentatively attribute it to a prenatal or perinatal lesion. The optic atrophy is interpreted as a consequence of retrograde transsynaptic degeneration extending to retinal ganglion cells. It appears unlikely that the macular changes, consisting of discrete hyperpigmentations and depigmentations, are the result of loss of retinal nerve fibers. The independent occurrence of juvenile macular degeneration seems a more probable cause.

Brain Diseases↗
PubMedDate not supplied

Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families.

PURPOSE: To examine the clinical and genetic heterogeneity of autosomal dominant optic atrophy among two unrelated central Illinois families. METHODS: Forty-three individuals from two pedigrees had complete eye examinations. Linkage analysis was performed with microsatellite markers from the region 3q28-29. RESULTS: Visual acuity in 21 affected individuals ranged from 20/25 to 20/800. Vision loss was more severe in males than females (P = 0.02). Color vision testing revealed generalized dyschromatopsia. Both visual acuity and color vision deteriorated with age. Linkage was established to chromosome 3q28-29 (LODmax = 4.68 for D3S2305). CONCLUSION: Autosomal dominant optic atrophy linked to chromosome 3q28-29 shows intrafamilial phenotypic variation as well as sex-influenced severity in two Midwestern families.

Adolescent↗
PubMed1994

Optic atrophy as the presenting sign in Hallervorden-Spatz syndrome.

A girl of eight years of age is described with the Hallervorden-Spatz syndrome. Optic atrophy with progressive visual loss was the only presenting symptom for three years. Behavioural and motor disturbances emerged after that time. Optic atrophy can be the first and for some time only symptom of the Hallervorden-Spatz syndrome.

Brain↗