PubMed · 7585230
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J P Ganley. 1995. World blindness data.. https://doi.org/10.3109/09286589509071447
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PURPOSE: To report a case of multiple cranial arteriovenous malformations involving the orbit and retina. METHOD: Case report. We treated a 7-year-old girl who was diagnosed with a left submaxillary, a left retinal, a left orbital, and a middle subdural arteriovenous malformation. RESULTS: Enlargement of the arteriovenous malformations, except for the retinal arteriovenous malformation, was observed. After external carotid artery embolizations and radiation therapy for uncontrolled oral cavity bleeding, loss of light perception in the affected eye occurred, but no marked changes occurred in the retinal arteriovenous malformation. CONCLUSION: This rare case suggests that the clinical finding of a stable retinal arteriovenous malformation may be associated with enlargement of arteriovenous malformation lesions at other sites.
Muscle-eye-brain disease (MEB) is an autosomal recessive disease of unknown etiology characterized by severe mental retardation, ocular abnormalities, congenital muscular dystrophy, and a polymicrogyria-pachygyria-type neuronal migration disorder of the brain. A similar combination of muscle and brain involvement is also seen in Walker-Warburg syndrome (WWS) and Fukuyama congenital muscular dystrophy (FCMD). Whereas the gene underlying FCMD has been mapped and cloned, the genetic location of the WWS gene is still unknown. Here we report the assignment of the MEB gene to chromosome 1p32-p34 by linkage analysis and homozygosity mapping in eight families with 12 affected individuals. After a genomewide search for linkage in four affected sib pairs had pinpointed the assignment to 1p, the MEB locus was more precisely assigned to a 9-cM interval flanked by markers D1S200 proximally and D1S211 distally. Multipoint linkage analysis gave a maximum LOD score of 6.17 at locus D1S2677. These findings provide a starting point for the positional cloning of the disease gene, which may play an important role in muscle function and brain development. It also provides an opportunity to test other congenital muscular dystrophy phenotypes, in particular WWS, for linkage to the same locus.
Blindness due to cataract presents an enormous problem in India not only in terms of human morbidity but also in terms of economic loss and social burden. The WHO/NPCB (National Programme for Control of Blindness) survey has shown that there is a backlog of over 22 million blind eyes (12 million blind people) in India, and 80.1% of these are blind due to cataract. The annual incidence of cataract blindness is about 3.8 million. The present annual level of performance is in the order of about 1.6-1.9 million cataract operations. To clear the backlog of cataract cases by the year 2000 and to tackle the rising incidence, 5-6 million cataract operations annually will have to be performed as against the present rate of 1. 7 million per year. India is undertaking a new long-term initiative to expand the capability of cataract surgery and service levels with financial assistance from the World Bank. An important feature of this initiative is the attention given to spread the cataract blindness programme in rural and tribal areas. The second feature is the emphasis placed on modern extracapsular cataract extraction with intra-ocular lens implantation as the preferred surgical technique. Another noteworthy feature is developing institutional capacity and appropriate co-ordination mechanisms for collaboration between the non-government organization and the public sector to expand coverage to the most disadvantaged populations. The fourth and the most important strategy is to carry out intensive campaigns at the state and national levels against cataract blindness in order to substantially increase the demand for cataract services. A country like India has more significance for such a plan in view of the fact that various social, economic and environmental factors contribute to cataract blindness in populations at a much younger age.