Showing papers by "Philip J. Rosenfeld published in 1994"

Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.

Abstract: The diagnosis and basic understanding ofmany genetic ocular disorders have been aided by the identification of the disease causing chromosomal loci. These chromosomal loci have been mapped using the candidate gene or the positional cloning approaches. This review will focus on genetic disorders that primarily affect ocular function with emphasis on the most recent advances in the chromosomal mapping of these disorders. In particular, we will concentrate on the genetic diseases affecting the posterior segment of the eye including the retina, choroid, and vitreous. The success of linkage analysis has relied heavily on previous clinical classifications and there are numerous reports of distinct ocular diseases mapping to specific chromosomal loci. However, there are also many examples in which a well defined disease maps to any of a number of chromosomal loci. This genetic phenomenon is known as non-allelic or locus heterogeneity and can be viewed as reflecting the eye's limited repertoire of responses to a variety of genetic lesions. Another emerging pattern is that of \"gene sharing\" in which different mutations within the same gene can cause clinically distinct ocular diseases. Mapping of mendelian genetic disorders has helped refine the clinical classifications and has led to examples of both \"lumping\" and \"splitting\".