Contribution to carrier detection and genetic counselling in X linked retinoschisis.

Efficient DNA carrier detection in X linked juvenile retinoschisis.

Juvenile retinoschisis is a rare, X linked hereditary vitroretinal degeneration. Female carriers of the disease do not develop any ocular abnormalities. Therefore, carrier detection by DNA analysis is extremely useful for these females. In order to evaluate the usefulness of a new class of DNA markers for carrier detection in X linked juvenile retinoschisis, DNA carrier detection or carrier exc...

Preimplantation genetic diagnosis of X-linked retinoschisis.

The aim of this study was to perform preimplantation genetic diagnosis (PGD) for X-linked retinoschisis using multiple displacement amplification (MDA) for whole genome amplification and linked markers to the RS1 gene. The study evaluates the ability of MDA to amplify the whole genome directly from a single blastomere. MDA products were used for polymerase chain reaction analysis of two polymor...

Improved genetic mapping of X linked retinoschisis.

X linked retinoschisis (RS) causes poor vision in affected males owing to radial cystic changes at the macula. Genetic linkage analysis was carried out in 16 British families with X linked retinoschisis using markers from the Xp22 region. Linkage was confirmed between the RS locus and the markers DXS207 (lod score, Zmax = 17.9 at recombination fraction theta = 0.03; confidence interval for thet...

X-linked Hereditary Retinoschisis.

AN X-linked degenerative retino-choroidal disease, hereditary retinoschisis, has been identified in the last 10 years. In milder cases the disease takes the form of radial macular degeneration, but in severe cases a grey sheet-like veil is attached to the detachment in the retinal vasculature, especially in the lower temporal quadrant. In differential diagnosis, according to Ricci (1960), a dom...

X linked retinoschisis.