RECENT DEVELOPMENTS IN CERTAIN X-LINKED GENETIC EYE DISORDERS

Over the past few years, genetic diseases of the ocular system have be come 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 pro gress. As a result, many genetic disease genes have been localized in the human chromosome and several of them have been isolated and charac terized. These and other studies have profoundly enriched our basic un derstanding of genetic eye disorders. Although gene replacement therap y, prenatal diagnosis and carrier detection have not been extensively tried for genetic eye diseases, such attempts will now be feasible. Mo lecular analyses made it clear that there are many challenging problem s that need attention. This report highlights some of these initial de velopments, particularly on the X-linked major genetic eye diseases. I n order to help the beginners and general audience, a brief descriptio n of the clinical pathology and the molecular probes used to locate th e genetic defects of certain disorders are presented. Disorders are ar ranged according to their linkage from telomere to telomere on the chr omosome to give a coherent structure. It is hoped that this informatio n is useful and of general interest for the beginners, established inv estigators and ophthalmologists.