INFANTILE PRESENTATION OF X-LINKED RETINOSCHISIS

Five infants who presented with nystagmus and/or strabismus were found to have bilateral highly elevated bullous retinoschisis involving the macula. Haemorrhage was present within the schisis cavity or the vitr eous in four patients. The bullous retinoschisis eventually reattached spontaneously leaving pigment demarcation lines. A family history of X linked retinoschisis (XLRS) was known in two of the patients but in the other three subsequent investigation showed other male family memb ers to be affected. It is important to recognise this uncommon present ation of XLRS so that the correct diagnosis is made and appropriate ge netic counselling is given. Surgical treatment is not usually indicate d and the visual prognosis is better than the initial appearance may s uggest.