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Bilateral pigmented fundus lesions were found in 65 out of 72 patients with familial adenomatous polyposis, an additional five patients having unilateral lesions. With a family history of familial adenomatous polyposis, the occurrence of multiple bilateral fundus lesions indicates the presence of the abnormal gene, as does the occurrence of oval pigmented lesions with surrounding pale haloes. The absence of pigmented fundus lesions does not exclude the abnormal genotype, while the presence of occasional pigmented spots can be found in an appreciable percentage of the population. Ocular examination would, however, appear to be valuable in screening those at risk, with a positive yield in most carriers of the gene for familial adenomatous polyposis.

Results are presented which confirm that in human albinos each cerebral hemisphere receives a predominantly monocular input from the contralateral eye, giving rise to an asymmetry of the visual evoked potential (VEP) to whole-field stimulation which is similar to that for stimulation of the temporal half-field in the same individual. The further finding of two distinct, and in some respects opposite, types of topographical asymmetry raises the possibility that there are two anatomically distinct variants in the retinocortical projection in human albinism, as there are in the Siamese cat.

Minor and major deficiencies of enzymes affecting galactose metabolism may be associated with cataracts of early onset. Results are presented for 10 such families with minor enzymatic disorders. Expression of the major disorders probably involves galactitol accumulation and osmotic lens damage but this mechanism is not obviously associated with minor disorders. The observed incidence of minor incomplete enzymatic disorders of galactose metabolism in families with an incidence of cataracts of early onset may be at least partly incidental.

Further linkage data relating X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28) is presented in this paper. The current mean estimate of the recombination fraction (theta) including this and all published data, is 0.09, with confidence limits 0.04 to 0.17 (maximum Lod score of 14.01 at a theta of 0.08). There is no evidence for heterogeneity of recombination fraction between the 13 families for which data are available. However, it is argued that heterogeneity should be assumed to exist for the purposes of risk estimation. Mean estimates and variances of risk are calculated for hypothetical families each with different linkage data. In families in which no recombination has been observed, the mean and variance of risk are sufficiently small for the clinical use of this probe to be acceptable to many.