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Leber’s congenital amaurosis (LCA) is the term applied to a group of conditions with autosomal recessive inheritance, severe visual impairment from birth, and blindness by the third or fourth decade of life. One form of LCA, LCA2, is caused by mutations in the gene, RPE65, which encodes a protein that is essential for the normal functioning of retinal rods and cones. Now the short-term results of gene therapy for LCA2 have been reported in six young adults, three in London and three in Philadelphia (New England Journal of Medicine 2008;358:2231–9 and 2240–8; see also editorial, ibid: 2282–4). Treatment consisted of subretinal injections of a recombinant adeno-associated virus carrying RPE65 complementary DNA under the control of an RPE65 promoter. In the Philadelphia patients, but not in those in London, there was some apparent improvement in visual acuity. One of the London patients showed improvement in visual function on microperimetry and on dark-adapted perimetry and in a subjective test of visual mobility. There were no serious adverse events although one patient in the American study developed an asymptomatic macular hole. Both sets of researchers conclude that the results give support for further studies.
The KOSCHI (King’s Outcome Scale for Childhood Head Injury) is an eight-point scale (five main categories, three each divided into two subcategories) for the documentation of recovery from childhood head injury. A …
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