An ophthalmic genetics clinic.
The results are presented from the first year of our clinic in Edinburgh. These were included in the setting up of a computerized Register of Ascertainment and Prevention of Inherited Disease ('RAPID') in the Department of Human Genetics. A total of 45 relatives who had greater than 10% risk were ascertained from fifteen families with hereditary diseases; 24 relatives had 10% risk of retinitis pigmentosa. The pupils at the Royal Blind School, Edinburgh, were surveyed and it was found that 40% of the 100 pupils had definitely inherited severe eye disease. Only 31% , had definitely non-genetic disease, for which reassuring counseling can be given. In 29% we could not be sure. From those with hereditary disease we ascertained 51 relatives at greater than 10% risk. Any patient with a fairly symmetrical 'quiet' eye disease, especially if congenital, should be suspected of having an hereditary disease--presumably due to a recessive gene, even if the parents are not consanguineous, but possibly due to a mutation which could prove dominant; a search of the literature in such cases is useful. Although patients with a 'recessive' disease can be reassured that the (extra) risk to their children is small, it is worth warning them that in their families a consanguineous marriage is more liable than usual to produce affected children. A case of oculo-pharyngeal muscular dystrophy was seen and two cases of Leber's congenital amaurosis: the commonest diagnosis was retinitis pigmentosa, and there were several cases of Marfan's syndrome. The Royal Blind School takes both boys and girls and one couple have recently married, the male with X-linked retinitis pigmentosa and the female with dominantly inherited retinoblastoma.
D000293:Adolescent; D001766:Blindness / Q000235:genetics; D002648:Child; D005128:Eye Diseases / Q000235:genetics* / Q000517:prevention & control; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D005817:Genetic Counseling; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics; D009136:Muscular Dystrophies / Q000235:genetics; D010375:Pedigree; D012160:Retina / Q000002:abnormalities; D012174:Retinitis Pigmentosa / Q000235:genetics; D012175:Retinoblastoma / Q000235:genetics; D012730:Sex Chromosomes