Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3.

X-linked progressive cone dystrophy (XLPCD) is a rare hereditary eye disorder characterized by disturbed cone ERG, abnormal color vision, loss of visual acuity, and photophobia. Linkage analysis in only two XLPCD families has been described previously. Here, the authors report a linkage analysis in an XLPCD family, which confirms the localization of COD1 in Xp21.1-p11.3. The date presented here may be used in multipoint linkage analyses to refine the localization of the COD1 gene. Full clinical details of all family members are described elsewhere. The clinical spectrum of the disease is similar to that of the XLPCD family described by Jacobson et al. Southern and PCR analyses were essentially carried out as described. Statistical analyses were carried out using the computer program MLINK from the package LINKAGE 5.01. A gene frequency of 0.000001 was used. 11 refs., 1 fig.