[Effectiveness of the ultrasonic therapy of optic atrophy after optic chiasm arachnoiditis].
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Adolescent↗
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Results for “Optic Atrophy”
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Hereditary cerebellar atrophy (Holmes type) with optic atrophy: a clinico-pathological study of four generations in a family.
A family with a dominantly inherited progressive cerebellar ataxia is described; four members of successive generations were affected. Neuropathological examination of one family member classified this disorder as hereditary cerebellar atrophy of Holmes type. An associated optic atrophy has not been previously reported in this disease.
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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↗
Psychophysical and visual evoked potential findings in hereditary optic atrophy.
24 members of families with dominant hereditary optic atrophy were investigated. Visual acuity, Goldmann perimetry, Farnsworth-Munsell 100-hue tests, and visual evoked potentials to flash and pattern-reversal were performed. All except the Goldmann perimetry showed a significant association with the presence of optic atrophy. The flash VEP showed a positive-negative-positive response in most of the affected patients.
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Hereditary optic atrophy with probable association with a specific HLA haplotype.
A family with hereditary optic atrophy in 4 members of 3 generations is described. The clinical findings differ from those previously observed in hereditary optic atrophy and in Leber's disease, indicating that the hereditary optic atrophy described in this report represents a new disease entity, which is inherited in an autosomal, dominant way with incomplete penetrance. Analyses of the cerebrospinal fluid and serum did not reveal signs of immunoglobulin synthesis within the central nervous system, i.e. findings encountered in a considerable proportion of patients with optic neuritis. An association was found between the family members affected by the disease and the major histocompatibility system haplotype A2 B8. A linkage thus occurred between the disease and the HLA region on human chromosome No. 6.
Adolescent↗
A clinicopathologic study of autosomal dominant optic atrophy.
Of a family with 40 members, 12 had autosomal dominant optic atrophy. The affected members were aware of reduced vision from the first decade. Visual loss was moderate to severe, 6/12 (20/40) to 3/60 (10/200). The affected members showed similar centrocecal scotomata. Most affected patients had severe unclassified color defects. Electroretinography measurements were normal in all but one patient who had a small reduction in the scotopic response. The pathologic changes in a patient with autosomal dominant optic atrophy showed diffuse atrophy of the ganglion cell layer of the retina with a loss of myelin and nerve tissue within the optic nerves. We suggest that autosomal dominant atrophy is a primary degeneration of retinal ganglion cells.
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A family with apparently sex-linked optic atrophy.
A family is described in which a probable new form of sex-linked optic atrophy was found in eight individuals. Some additional neurological abnormalities were noted. Results of studies of the Xg blood group excluded close linkage between the optic atrophy and Xg genes. As a probable coincidence, Huntington's chorea was found in a side branch of the family.
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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↗
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.
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Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy.
IMPORTANCE: Aconitase 2 (ACO2) gene variants are one of the most frequent causes of dominant optic atrophy (DOA). However, the associated phenotypes and genotypes still lack proper characterization. OBJECTIVE: To characterize the clinical and genetic spectrum of ACO2-related DOA and evaluate genotype-phenotype correlations. DESIGN, SETTING, AND PARTICIPANTS: This was a retrospective case series to describe the ophthalmological examination of novel DOA cases with a heterozygous ACO2 variant. Data were collected from 13 reference centers in ophthalmology from France and Great Britain between January 2021 and September 2025. Included participants were those patients with OA and confirmed heterozygous or compound heterozygous ACO2 variants. EXPOSURES: DOA cases with a heterozygous ACO2 variant. MAIN OUTCOMES AND MEASURES: Positive molecular diagnosis for ACO2 variants by next-generation sequencing, clinical examination including age at diagnosis, sex, best-corrected visual acuity (BCVA), retinal nerve fiber layer (RNFL) and ganglion cell layer (GCL) thickness, visual field mean deviation (MD), and fundus examination. RESULTS: Data for 55 patients (median [IQR] age at diagnosis for 45 patients, 24 [8-51] years; 33 male [67%]) from 37 families with ACO2 variants were compiled. Analyses were conducted on 49 patients who were strictly heterozygous or compound heterozygous with the c.220C>G benign variant. Clinical data disclosed a high variability of severity, from pauci-symptomatic up to legal blindness. Median BCVA was 0.46 logMAR (Snellen equivalent, 20/63; IQR 0.00-0.89; n = 45). Four patients exhibited retinal abnormalities: 3 displayed a foveopathy, and 1 had retinitis pigmentosa. There were 12 previously unreported variants (to the authors' knowledge), including the deletion of ACO2 exon 9. No correlation between BCVA and sex, age at diagnosis (Spearman ρ = -0.19; 95% CI, -0.45 to 0.07), or variant type (Kruskal-Wallis test P =.33) was found, but there was a correlation between BCVA and RNFL (Spearman ρ = -0.74; 95% CI, -0.85 to -0.54), GCL (Spearman ρ = -0.60; 95% CI, -0.79 to -0.30), and MD (Spearman ρ = -0.65; 95% CI, -0.89 to -0.31). RNFL correlated with GCL (Spearman ρ = 0.69; 95% CI, 0.42-0.87) and MD (Spearman ρ = 0.57; 95% CI, 0.14-0.85); age at diagnosis correlated with GCL (Spearman ρ = -0.37; 95% CI, -0.63 to -0.03). CONCLUSIONS AND RELEVANCE: Results of this case series reveal the high clinical heterogeneity among patients with ACO2-related DOA and demonstrated that some of these patients can also exhibit retinal abnormalities. In addition, there was a deletion of an entire ACO2 exon, emphasizing the potential importance of searching for large genomic rearrangements in patients without a molecular diagnosis. These findings support further studies to explain clinical variability, as no genotype-phenotype correlation was encountered.
Humans↗
Dominant optic atrophy. The clinical profile.
We examined 24 individuals in four family pedigrees with dominantly inherited optic atrophy (DOA); 12 patients met the criteria for diagnosis of DOA and two were suspect. Our data indicate that (1) insidious onset usually occurred in childhood, but subjective visual symptoms may evolve in adulthood; (2) visual function was minimally (20/25) to moderately (20/400) abnormal, could be strikingly asymmetric in an individual (eg, 20/30 in the right eye and 20/200 in the left eye), and showed considerable intrafamilial and interfamilial variation; (3) visual field defects consisted of central and centrocecal scotomas, but no peripheral isopter abnormalities were found; (4) color-vision screening with Hardy-Rand-Rittler plates revealed dyschromotopsias, but only Farnsworth-Munsell 100-hue examination disclosed the typical tritan defects; (5) pattern-reversal visual-evoked responses were characterized by diminished amplitudes and prolonged latencies, consistent with neural conduction defects; (6) disc pallor was limited to the temporal segment in all cases, and 16 of 24 eyes showed focal temporal excavation, which is probably pathognomonic of DOA.
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The autosomal dominant syndrome of progressive optic atrophy and congenital deafness.
Four members of a family had the heriditary syndrome of dominantly inherited progressive optic atrophy and congenital sensorineural deafness. Hearing evaluations revealed that two members had a potentially treatable form of deafness.
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The histologic basis of optic disk pallor in experimental optic atrophy.
We studied the clinical and microscopic appearances of the optic nerve head in squirrel monkeys with optic nerve degeneration produced by optic nerve transection at the orbital apex. The ophthalmoscopic development of optic disk pallor coincided with the loss of nerve fiber bundles and the rearrangement of the remaining disk astrocytes into dense parallel layers across the nerve head. No astrocytic mitoses were observed and the estimated volume of astrocytes increased only slightly from normal. Among the astrocytes in atrophic disks, many capillaries had patent lumens and ultrastructurally normal endothelial cells. Pallor of the optic disk seems to result from a decrease in the transmission of light into the cytoarchitecture of the atrophic nerve head, not from the absence of capillaries or from extensive astrocytic proliferation.
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Complicated optic atrophy (Bher's disease) associated with epilepsy and amino acid imbalance.
A case of Behr's disease (complicated optic atrophy) associated with epilepsy and with imbalance of the free amino acid pool in plasma and cerebrospinal fluid, quite similar to that identified in patients with hereditary ataxias, is reported. The latter finding stands for a closer correlation between the two clinical entities.
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Optic atrophy after irrigation of the lacrimal ducts with chloramphenicol.
A case is presented of permanent visual loss and optic atrophy following irrigation of the lower canaliculus after probing, with a 20% solution of chloramphenicol. A false passage had apparently been created allowing the solution to gain access to the orbital tissues. The ensuing orbital edema probably caused a central retinal artery occlusion. This is a previously unreported complication of a common ophthalmologic procedure.
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[The occurrence of diabetes mellitus, diabetes insipidus, optic atrophy and neurogenic deafness in one patient (author's transl)].
Report of a further case with coexisting diabetes mellitus, diabetes insipidus, optic atrophy und neurogenic deafness. It was not possible to find a cause for these symptoms. The cases reported in the literature are brought together and discussed.
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The risk of optic atrophy following suramin treatment of ocular onchocerciasis.
Treatment of onchocerciasis with suramin in an area of vector control led to an increased incidence of optic atrophy in treated patients compared to an untreated group.
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Charcot-Marie-Tooth disease with Leber optic atrophy.
A family is described in which visual failure was associated with hypertrophic Charcot-Marie-Tooth disease. The diagnosis of Charcot-Marie-Tooth disease was confirmed by electrophysiologic studies and by quantitative histologic studies of sural nerve biopsies. The clinical features and mode of inheritance of the visual failure were those of Leber optic atrophy. The two conditions were inherited independently.
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