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J R Soc Med. 1989 July; 82(7): 406–409.
PMCID: PMC1292205

Ten years experience of a genetic eye clinic: 1978-1987.


Over a ten year period of running a joint ophthalmological/genetic clinic, 387 index patients were advised, and a further 260 individuals (relatives of the above) were examined and counselled. Determination of the precise diagnoses and modes of inheritance in the index patients necessitated retinal function tests in 267 (69%) and examination of 84 of their parents and 23 sisters and daughters. Finally, 41% of index patients and 39% of their relatives were given high risks for transmitting an autosomal dominant or X-linked disorder to their children. It is noteworthy that 16% of these high-risk index patients and 66% of these high-risk relatives had no visual symptoms; ophthalmological expertise was required to assess the significance of their minor signs. It was concluded that an active Register is required for contacting relatives outside the nuclear family, and for future recall of children currently too young for carrier tests or genetic counselling.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
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  • Bundey S, Crews SJ. A study of retinitis pigmentosa in the City of Birmingham. II Clinical and genetic heterogeneity. J Med Genet. 1984 Dec;21(6):421–428. [PMC free article] [PubMed]
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  • Boughman JA, Caldwell RJ. Assessment of clinical variables and counseling needs in patients with retinitis pigmentosa. Am J Med Genet. 1982 Jun;12(2):185–193. [PubMed]

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