EFFICIENT DNA CARRIER DETECTION IN X-LINKED JUVENILE RETINOSCHISIS

Juvenile retinoschisis is a rare, X linked hereditary vitroretinal deg eneration. Female carriers of the disease do not develop any ocular ab normalities. Therefore, carrier detection by DNA analysis is extremely useful for these females. In order to evaluate the usefulness of a ne w class of DNA markers for carrier detection in X linked juvenile reti noschisis, DNA carrier detection or carrier exclusion was carried out in four possible carriers for X Licked juvenile retinoschisis. The use of these highly polymorphic CA repeats, closely linked to the RS gene , greatly enhances both the reliability and feasibility of carrier det ection in X linked juvenile retinoschisis.