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We report a case of GMI gangliosidosis type I with cherry-red spot, optic atrophy, and corneal cloudings. The diagnosis was confirmed by the deficiency of beta-galactosidase enzyme in leucocytes and in urine.
A case of neurosyphilis is described. The presenting symptoms were reduced visual acuity and impaired colour vision. The examination revealed bilateral optic atrophy and acquired red-green colour defect. A syphilitic aetiology was based on positive serological tests in blood and CSF, pleocytosis and increased total protein in the CSF. The abrupt decline in visual acuity was arrested by treatment with penicillin and systemic steroids, but normalization of vision was not obtained. All VER-records, of P2 latencies and morphologies were surprisingly normal, but the amplitudes were reduced.
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A case is presented of a patient with systemic lupus erythematosus who had three of its rarest complications--panniculitis, optic atrophy, and hemiplegia, the latter two occurring despite adequate corticosteroid therapy. There appears to be a missing link in this patient's immune mechanism, which faulted her complete response to corticosteroid therapy and led to the three complications.
CASE REPORT: To report the case of a 26-year-old woman with a family history of dominant optic atrophy who requested DNA testing and counselling. Ophthalmologic examination showed her affected father had bilateral temporal papillary pallor. Direct genomic sequencing of the OPA1 gene revealed a novel heterozygous nonsense mutation (Arg879stop). Because no mutation in OPA1 was detected in the daughter, we could counsel her that the possibility was very low that she was a carrier or would pass the disease-causing gene to her children. COMMENTS: Our study provides evidence of the apparent value of molecular genetic analysis of OPA1 gene as predictive DNA testing, although the exact risk and benefit of this type of analysis awaits further study.
Comprehensive examinations of the optic nerve anatomy and function in atrophies of various origins have revealed a correlation between computerized tomography data and clinical and functional characteristics in 67 patients. A staged pattern of the development of anatomic shifts corresponding to CT data on the changes in the optic nerve diameter and density in accord with the length of the disease has been determined, as well as a relationship between these shifts and the patients' age and the degree of the calcification of the internal carotid arterial walls. CT signs of the optic nerve atrophy are related to functional disorders. Impaired circulation in the internal carotid arteries augments the atrophic process in the optic nerve. These data may be useful for the selection of a method for the management of optic nerve atrophy and for assessment of the treatment efficacy.
A 37-year-old man developed periodic esotropia with 4-day cycles. He was unique because of his age, negative family history for strabismus, bilateral optic atrophy, and absence of light perception in the deviating eye. Adult-onset cyclic esotropia in a blind eye is reported. This afferent defect may lead to secondary changes in the central nervous system, and fusional potential is not necessary for cyclic esotropia to occur.
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A 24-year-old woman developed bilateral blindness after recovery from coma secondary to acute intermittent porphyria. Gradual return of vision in the right eye with a permanent unilateral visual field defect and optic atrophy followed. We believe the pathophysiologic mechanism was spasm of the vessels supplying the optic disk leading to ischemia and infarction of the optic nerve.
We report an inbred Arab family from the United Arab Emirates with two children affected with mental retardation, iris coloboma, optic atrophy, nystagmus, and a distinctive facial appearance. This includes a long narrow face, downslanting palpebral fissures, a narrow nose with hypoplasia of the alae nasi, a small philtrum and a thin upper lip. We suggest that the combination of abnormalities in these children represents a previously undescribed autosomal recessive syndrome.
Retinal blood flow and oxygen saturation were evaluated in patients with unilateral inner retinal degeneration secondary to neurogenic optic atrophy. Arteriovenous O2 saturation for temporal and nasal vascular segments of the affected eyes, evaluated by retinal vessel oximetry, was 12% +/- 9% higher than in the fellow eyes (seven patients). Blood flow in the temporal retinal arteries of the affected eyes, measured by the laser Doppler technique, was 48% +/- 20% lower than in the fellow eyes (four patients). The combination of these results indicated a 40% +/- 29% reduction in O2 delivery in the affected eyes (four patients), thereby quantifying the decrease in retinal metabolism that resulted from inner retinal degeneration.
Visual functions including color vision and spectral sensitivity were investigated in 18 of 36 patients and in 2 persons with normal visual acuity in 8 families with dominantly inherited juvenile optic atrophy. Seven of the 8 families had at least one member who showed mainly acquired blue-yellow color vision deficiency. However, only 4 patients showed typical blue-yellow color vision deficiency, which suggested nonspecific characteristics of color vision deficiency in optic neural diseases. One family showed mainly acquired red-green color vision deficiency. Spectral sensitivity functions measured in 5 patients of 3 families showed sensitivity loss in the middle and long wavelength range as well as markedly decreased sensitivity in the short wavelength range. Decrease in spectral sensitivity in the short wavelength range or minimal blue-yellow color vision defect in a subject's brothers with normal visual acuity is interesting, but further study is needed because blue sensitivity decreases easily in various conditions.
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We and others have shown recently that mutations in the OPA1 gene encoding a dynamin-related mitochondrial protein cause autosomal dominant optic atrophy (ADOA) linked to chromosome 3q28-q29. Here we report screening of the OPA1 gene in a sample of 78 independent ADOA families. OPA1 mutations were identified in 25 patients (detection rate 32.1%) including 16 novel mutations. We successfully amplified OPA1 cDNA prepared from leukocyte RNA of three patients, and found the amount of transcripts harboring the Arg366Stop mutation was significantly reduced compared with transcripts derived from the normal chromosome. Analysis of the distribution of OPA1 mutations in ADOA revealed that most missense mutations cluster within the putative GTPase domain, and that there is a preponderance of mutations, which result in premature translation termination. These observations support the notion that haploinsufficiency may represent a major pathomechanism for ADOA. In addition, we identified an ADOA patient who is a compound heterozygote for two OPA1 missense mutations. The fact that this patient is by far more severely affected than her simple heterozygotic parents and siblings implies that at least these OPA1 alleles behave semi-dominantly rather than purely dominantly. Clinical examination revealed considerable variability in disease expression among patients carrying OPA1 mutations and no strict correlation with either the position or the type of mutation.
We report a family with a unique combination of radiological manifestations of acromesomelic dysplasia and spondyloepiphyseal dysplasia in two members (a man and his daughter) associated with congenital optic atrophy in four generations. The inheritance pattern of this complex anomaly appeared to be autosomal dominant.