title: Recent developments in certain X-linked genetic eye disorders.
abstract: Over the past few years, genetic diseases of the ocular system have become very active and fast-growing research areas in the vision field. The rapid development of the recombinant DNA techniques together with somatic cell genetics, during the last two decades has fueled this progress. As a result, many genetic disease genes have been localized in the human chromosome and several of them have been isolated and characterized. These and other studies have profoundly enriched our basic understanding of genetic eye disorders. Although gene replacement therapy, prenatal diagnosis and carrier detection have not been extensively tried for genetic eye diseases, such attempts will now be feasible. Molecular analyses made it clear that there are many challenging problems that need attention. This report highlights some of these initial developments, particularly on the X-linked major genetic eye diseases. In order to help the beginners and general audience, a brief description of the clinical pathology and the molecular probes used to locate the genetic defects of certain disorders are presented. Disorders are arranged according to their linkage from telomere to telomere on the chromosome to give a coherent structure. It is hoped that this information is useful and of general interest for the beginners, established investigators and ophthalmologists.
authors.affiliation: Eye Research Institute of Oakland University, Rochester, MI 48309-4401.
authors.forename: B S
authors.initials: BS
authors.lastname: Shastry
mesh_terms: D002386:Cataract / Q000235:genetics; D002874:Chromosome Mapping; D003117:Color Vision Defects / Q000235:genetics; D005128:Eye Diseases / Q000235:genetics*; D000795:Fabry Disease / Q000235:genetics; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D009800:Oculocerebrorenal Syndrome / Q000235:genetics; D010859:Pigmentation Disorders / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics; D014960:X Chromosome