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PubMed1989

Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis.

The maternal inheritance in Leber optic atrophy suggests that it may be caused by a cytoplasmic or mitochondrial defect. However, the strong male bias and the strict tissue specificity can not be readily explained by a single mitochondrial gene defect alone. Wallace suggested a hypothesis that the disease could be the result of an interaction between an X-linked gene and a mitochondrial DNA defect. Linkage relationships between Leber optic atrophy and 15 X-chromosome markers were analyzed in three large Tasmanian families. The results of two-point linkage analysis showed no close linkage between Leber optic atrophy and any of the 15 markers. The results of multipoint linkage analysis suggested the exclusion of the assumed X-linked gene from almost the whole X chromosome in these families.

Female↗
PubMed1998

Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees.

Dominant optic atrophy, a hereditary optic neuropathy causing decreased visual acuity, colour vision deficits, a centro-caecal scotoma and optic nerve pallor, has been mapped to a genetic interval of 1.4 cM between loci D3S3669 and D3S3562 on chromosome 3q28-qter. In order to further refine the critical disease interval, and to test the power of haplotype analysis and linkage disequilibrium mapping, we identified a total of 38 families with dominant optic atrophy, unrelated on the basis of genealogy, from a data base of genetic eye disease families originating from the British Isles. They were studied with 12 highly polymorphic microsatellite markers spanning a region of 12 cM around the dominant optic atrophy locus (OPA1). Allelic frequency analysis [chi-squared test, likelihood ratio test (LRT) and P values] and haplotype parsimony analysis showed evidence of a founder effect in 36 of the 38 pedigrees. Six markers (D3S3669, D3S1523, D3S3642, D3S2305, D3S3590 and D3S3562), spanning 1.4 cM across the disease-associated region, demonstrated significant linkage disequilibrium by LRT (P < 0.05). A peak LRT value of 10.86 (P < 0.0005, lambda = 0.4) occurred at D3S3669. On linkage disequilibrium multipoint analysis the maximum lod score of 8.01 is achieved at D3S1523, and 95% confidence intervals suggest that OPA1 lies within ca. 400 kb of D3S1523.

Alleles↗
PubMed1990

Optic nerve head swelling and optic atrophy in the systemic mucopolysaccharidoses.

The ocular findings in 108 patients representative of all types of mucopolysaccharidoses (MPS) were reviewed. Attention was focused on optic nerve head appearance. Optic nerve head swelling was observed in 8/14 eyes of MPS 1-Hurler (MPS 1-H); 9/21 MPS 1-Hurler-Scheie (MPS 1-H-S); 0/4 MPS I-S; 13/66 MPS II; 1/22 MPS III; 0/58 MPS IV; 5/12 MPS VI; and 2/2 MPS VII eyes. In three patients, optic nerve head swelling was present in one eye and optic atrophy in the fellow eye; in four patients, optic atrophy followed disc elevation; three patients presented with bilateral optic atrophy. It was concluded that optic nerve head swelling precedes the development of optic atrophy in the systemic MPS.

Adolescent↗
PubMed1993

Unilateral optic atrophy presumed secondary to schistosomiasis of the optic nerve.

BACKGROUND: Schistosomiasis, a parasitic disease, is endemic in many parts of the world. Schistosomal eggs may be found in almost any organ or tissue in the body, including the eye. The presence of schistosomal eggs in the eye can produce granuloma formation and inflammatory sequelae. METHODS: A 63-year-old male had contracted schistosomiasis 40 years earlier while on active military service in the Philippines. Schistosoma japonicum eggs were isolated from his stools and military records indicated that the disease responded well to treatment with antimony potassium tartrate. The patient has gradually lost vision with his left eye over 15 years without the benefit of a complete optometric and medical diagnosis. RESULTS: CT scan suggested the likelihood of "subtle changes in the left optic nerve medially, possibly related to tumor invasion." Further evaluation and coordinated clinical thinking with other eye and medical practitioners led to the suspected diagnosis of schistosomal granuloma in the left optic nerve. In addition, the patient was legally blind from the consequences of glaucoma and its surgical intervention in his fellow eye. CONCLUSIONS: Although over 200 million people are infected with schistosomiasis, the United States is not an area where schistosomiasis is endemic. It is, however, endemic in parts of South America, Africa, Asia and the Caribbean Islands. Patients who have been in endemic areas with unexplained ophthalmic findings or systemic findings that could be related to granuloma formation or inflammatory sequelae of disease should have schistosomiasis included in their differential diagnosis.

Animals↗
PubMed1988

Optic atrophy in children.

We reviewed the records of 218 children in whom a diagnosis of optic atrophy had been made between 1978 and 1987. A cause for the atrophy was determined for 195 patients (89%). Tumor, the most frequent cause, was found in 63 patients (29%). The most common tumor was a glioma of the anterior visual pathway; it was found in 27 patients (43% of tumors; 12% overall). The second most frequently encountered tumor, a craniopharyngioma, was found in 14 patients. Inflammation, the second most common cause of optic atrophy, occurred in 38 children (17%). Trauma caused optic atrophy in 24 patients (11%). No cause could be found for 23 patients (11%). Thirteen patients were less than 1 year of age at the time of diagnosis. Three of these patients had tumors. One was a cerebral glioblastoma, and the other two were optic gliomas. The diagnosis of optic atrophy in infancy does not imply a benign cause.

Adolescent↗
PubMed1979

The mechanism of disc pallor in experimental optic atrophy. A fluorescein angiographic study.

Ascending optic atrophy was produced in 13 eyes of owl monkeys (Aotestrivirgatus) by retinal photocoagulation. Color fundus photography and fluorescein angiography were used to study and document the evolution of nerve head abnormalities. The optic nerve heads were also studied histopathologically. Except in certain instances of early transient (relative) filling defects, normal disc fluorescent patterns were preserved, despite clinically apparent optic nerve head pallor. Sectorial defects did not persist into the later phases of the angiogram. These findings may suggest a reduced blood flow, but neither angiographic nor histopathologic studies detected a reduced vascularity in the atrophic optic nerve. Pallor of the optic nerve head seems to result from alterations in the tissue reflectance and translucency following axonal loss and glial reorganization rather than from a decreased microvascular bed.

Animals↗
PubMed2006

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.

OBJECTIVE: Charcot-Marie-Tooth (CMT) neuropathy with visual impairment due to optic atrophy has been designated as hereditary motor and sensory neuropathy type VI (HMSN VI). Reports of affected families have indicated autosomal dominant and recessive forms, but the genetic cause of this disease has remained elusive. METHODS: Here, we describe six HMSN VI families with a subacute onset of optic atrophy and subsequent slow recovery of visual acuity in 60% of the patients. Detailed clinical and genetic studies were performed. RESULTS: In each pedigree, we identified a unique mutation in the gene mitofusin 2 (MFN2). In three families, the MFN2 mutation occurred de novo; in two families the mutation was subsequently transmitted from father to son indicating autosomal dominant inheritance. INTERPRETATION: MFN2 is a mitochondrial membrane protein that was recently reported to cause axonal CMT type 2A. It is intriguing that MFN2 shows functional overlap with optic atrophy 1 (OPA1), the protein underlying the most common form of autosomal dominant optic atrophy, and mitochondrial encoded oxidative phosphorylation components as seen in Leber's hereditary optic atrophy. We conclude that autosomal dominant HMSN VI is caused by mutations in MFN2, emphasizing the important role of mitochondrial function for both optic atrophies and peripheral neuropathies.

Adolescent↗
PubMed1986

[Effect of neurogenic optic atrophy on papillary blood flow].

Anterior optic nerve blood flow was measured in 9 patients with unilateral neurogenic optic atrophy. The noninvasive techniques of reflectometry and laser Doppler detected a decrease in capillary blood flow of the affected eyes as compared with the control fellow eyes as compared with the control fellow eyes (p less than 0.002) that averaged about 64% +/- 14%. There was a good correlation between the decrease in blood flow and the clinical severity of disease (p = 0.92, p less than 0.002). These noninvasive techniques provide a sensitive, safe, and accurate evaluation of the anterior optic nerve that is useful in both clinical research and patient care.

Humans↗
PubMed1991

Rod thresholds in dominantly inherited juvenile optic atrophy.

Three members of a family with dominantly inherited juvenile optic atrophy with tritan type of colour vision deficiency all showed dysfunction of the rod mechanism tested with green light after 30 min of dark adaptation. Two subjects had typical optic atrophy, centrocaecal scotoma and lower than normal visual acuity. In 1 subject with good visual acuity of both eyes, no optic atrophy was observed, but there were, in this case, reduced peripheral parts of the standard visual fields.

Adult↗
PubMed2000

[A case of Gerstmann-Sträussler-Scheinker syndrome (P102L) accompanied by optic atrophy].

We report a patient with Gerstmann-Sträussler-Scheinker syndrome (GSS102) who developed optic atrophy. He had been complaining of slowly progressive postural unsteadiness and pain in both legs for 3 years. Visual acuity subacutely worsened in the last half year. His father and two aunts, who already died, had been diagnosed to have dementia. It is uncertain whether they had optic atrophy or not. He was alert but apathetic. Neurological examination revealed cerebellar ataxia, painful dysesthesia and loss of deep tendon reflexes in the lower limbs. Fundoscopic examination revealed bilateral optic atrophy without retinal degeneration, which has never been reported in GSS. A brain MRI showed mild atrophy of cerebellar hemispheres without signal abnormalities of optic nerves. DNA analysis of prion gene revealed point mutation at codon 102 (P102L), which was relatively common mutation in GSS. Other mutations were not found. Only two patients of Creutzfeldt-Jakob disease with optic atrophy have been reported. This case seems to be important to investigate why optic tracts are generally spared in prion disease.

Gerstmann-Straussler-Scheinker Disease↗
PubMed1988

Restriction endonuclease analysis of leukocyte mitochondrial DNA in Leber's optic atrophy.

In order to test the hypothesis that Leber's optic atrophy may be caused by mutation of the mitochondrial (mt) genome, restriction fragment length polymorphism in leukocyte mt DNA was studied in 16 patients with Leber's optic atrophy, 28 of their unaffected matrilineal relatives, and 35 normal control subjects. No differences in restriction fragment patterns were observed between affected and unaffected individuals in the same maternal line, and there was no evidence of major deletion of mt DNA in patients. This study provides no positive evidence of mitochondrial inheritance in Leber's optic atrophy but does not exclude it.

Adult↗
PubMed2003

The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.

PURPOSE: To examine the involvement of the optic atrophy 1 (OPA1) gene in optic atrophy associated with moderate deafness. DESIGN: Observational case report. The entire coding sequence of the OPA1 gene was directly sequenced in the case of a patient suffering from optic atrophy associated with moderate deafness. RESULTS: A de novo heterozygous mutation R445H in the OPA1 gene was found. No similar mutation was detected in either of the patient's parents or in the 100 chromosome controls. CONCLUSION: The R445H mutation in OPA1 might be the cause of the association between dominant optic atrophy and moderate deafness, a phenotype that may be currently underdiagnosed.

Adult↗
PubMed2000

Optic atrophy in association with cobalamin C (cblC) disease.

PURPOSE: To report the association of optic atrophy with cobalamin C (cblC) disease. METHODS: Descriptive case reports on three patients, two of whom were siblings. RESULTS: All three patients with cblC disease exhibited bilateral optic atrophy with decreased visual acuity. Of the two siblings, the younger sister had received cobalamin supplements from birth and the mother had been given cobalamin supplements prenatally. CONCLUSION: These three cases confirm the association of optic atrophy with cblC disease. Early treatment with cobalamin supplements does not appear to prevent the development of optic atrophy.

Age of Onset↗
PubMed1983

Linkage analysis in dominant optic atrophy.

A kindred of German descent was studied for dominant optic atrophy, type Kjer (McKusick catalog no. 16540). One hundred twenty-three family members were examined clinically, and 36 affected, 81 normal, and six uncertain members were ascertained. Twenty-seven markers were analyzed for 121 members. The maximum lod score obtained was 2.0 at theta = .18 for linkage between the Kidd locus and dominant optic atrophy. Twenty-eight offspring were informative with 2-generation data. There was insufficient information for the acid phosphatase locus to aid gene localization. These data suggest that the locus for dominant optic atrophy is on chromosome 2.

Chromosome Mapping↗
PubMed1986

Optic atrophy in familial dysautonomia.

We examined three patients with classic findings of familial dysautonomia (Riley-Day syndrome) whose visual impairment was associated with optic atrophy. The presence of an optic atrophy in familial dysautonomia is indicative of central nervous system involvement, at least in these cases. Each of these patients was first noted to have visual impairment after the first decade. The late onset of optic atrophy may partly explain its apparent rarity. Since the life span of patients with familial dysautonomia is increasing, optic atrophy may be more commonly recognized in the future.

Adult↗
PubMed1982

Optic atrophy induced by vincristine.

Bilateral optic atrophy developed in a 15-year-old patient receiving concomitant neuraxis radiation therapy and weekly vincristine sulfate for medulloblastoma. Other neurologic manifestations that have been associated with vincristine therapy, including inappropriate secretion of antidiuretic hormone, hypertension, confusion, and a severe peripheral neuropathy, were also observed. Neither increased intracranial pressure nor active tumor was identified. Recovery of visual function followed discontinuation of vincristine. Other neurotoxicities also reversed with drug withdrawal. Visual loss occurring in a patient receiving vincristine should alert the physician to the possibility that the process is drug related. This complication may be more likely in patients receiving concomitant or previous cranial radiation therapy. Other central neurotoxicities of vincristine may also be accentuated by neuraxis radiation. It is recommended that vincristine be discontinued in this situation if an aggressive search for a structural anatomic lesion in the optic mechanism is unrevealing, as the prognosis for recovery of visual function appears excellent.

Adolescent↗
PubMed1984

[Independence of retinopathy and optic atrophy in the DIDMOAD syndrome].

A brother and a sister with DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, deafness, etc.) are described. The 15-year-old girl was suffering from severe optic atrophy, severe sensorineural hearing loss but only slight diabetic retinopathy. The 16-year-old boy presented with symptoms which were the opposite: slight optic atrophy, slight sensorineural hearing loss but severe diabetic retinopathy. These complementary impairments of neuronal and (diabetic) retinal function suggest that optic atrophy and retinopathy develop independently in DIDMOAD syndrome.

Adolescent↗
PubMed1985

[Autosomal dominant infantile optic atrophy: ascending or descending degeneration?].

All patients with autosomal dominant infantile optic atrophy had a normal electro-oculogram (EOG) and a normal luminance electroretinogram (L-ERG). Patients with a typical blue sensitivity defect at the time of investigation had a normal pattern electroretinogram (P-ERG), while the visually evoked cortical potentials to pattern stimuli (P-VECP) showed a delayed latency and a decreased amplitude. Only in severe cases of the disease where the blue sensitivity defect was masked by a progressive concomitant colour blindness was there a reduced amplitude in the P-ERG. The P-VECP in these cases was not recordable. The findings suggest that the primary process in autosomal dominant infantile optic atrophy is in the optic nerve, the inner layers of the retina being affected secondarily.

Adult↗