No abstract

The clinical and electrophysiologic findings in 11 cases of Wolfram syndrome are presented. These findings suggest that optic atrophy in Wolfram syndrome is not secondary to retinal pathology, but probably represents part of a generalized degeneration of neural structures. The relationship of diabetes mellitus to this process of neural degeneration remains unclear.

No abstract

Within a group of 20 patients showing optic atrophy and macula degeneration, 14 patients could be examined for neurological and audiometric defects. In 6 patients neurological signs and symptoms were observed. Nine patients reported loss of hearing and in 3 of them a severe perceptive deafness was seen in the audiogram. In 3 of the 14 patients a combination of severe neurologic and audiologic symptoms developed and in two of them a high thiocyanate concentration in serum was observed. The occurrence of perceptive deafness and posterior column sensory loss in the lower extremities in four of the patients made the diagnosis of polyneuropathy the most plausible. Although a similarity to chronic myelopathies caused by nutritional cyanide poisoning cannot be denied, the mean thiocyanate concentration in plasma 24 pmol/L (1.39 mg/L), and the cyanide levels in the blood 0.09 pmol/L (2.3 pg/L) were substantially lower than those found in other individuals during periods of extreme drought in which food only consisted of the bitter variety of cassava. The role of cyanide in the etiopathology of this polyneuropathy is unknown. (

Background-An epidemic of bilateral optic neuropathy is aVecting large numbers of people aged between 10 and 40 in Dar es Salaam, the capital city of Tanzania. The disease is characterised by acute onset of bilateral visual impairment, bilateral impairment of colour vision, and a characteristic temporal pallor of the optic discs. The disease often occurs in association with peripheral neuropathy and sensorineural hearing loss. This report presents the first data on disease prevalence in adolescents, based on a rapid assessment of schoolchildren. Methods-Three schools in Dar es Salaam were visited and all children aged between 10 and 16 were screened for the disease. Results-The prevalence of bilateral optic neuropathy among the schoolchildren is estimated to be 1.0% (95% CI 0.5-1.4%). This suggests that 5000 children (95% CI 2600-7300) aged 10-16 in Dar es Salaam may have the disease. Conclusion-The results of this rapid assessment indicate this epidemic is a major public health problem. The prevalence of the disease in the community is likely to be far higher than found in this survey because children with the disease may have withdrawn from school. As the disease predominantly aVects young adults, resulting in impaired vision and hearing, the economic and social consequences are enormous. (Br J Ophthalmol 1998;82:232-234)