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Mapping studies of an X-linked familial exudative vitreoretinopathy.

Familial exudative vitreoretinopathy (FEVR) is a congenital hereditary, bilateral eye disorder which affects both retina and the vitreous body. As a first step toward the identification of the gene responsible for the X-linked disorder, we report here the results of DNA analyses from the patients and their parents of two families having members affected with FEVR. The results indicate that loci MIC2 and choroideremia are unlikely to be associated with the disease. Similar results are obtained with anonymous probes DXS7 and DXYS1 and microsatellite markers DXS426, DXS453 and DXS454. No signs of microdeletion, substitution and rearrangements in these loci could be detected. These data suggest that the above loci are probably not involved in determining the FEVR pathology.