title: Infantile presentation of X linked retinoschisis.
abstract: 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 vitreous 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 members to be affected. It is important to recognise this uncommon presentation of XLRS so that the correct diagnosis is made and appropriate genetic counselling is given. Surgical treatment is not usually indicated and the visual prognosis is better than the initial appearance may suggest.
authors.affiliation: Department of Ophthalmology, Addenbrooke's NHS Trust, Cambridge.
authors.forename: N D
authors.initials: ND
authors.lastname: George
authors.forename: J R
authors.initials: JR
authors.lastname: Yates
authors.forename: K
authors.initials: K
authors.lastname: Bradshaw
authors.forename: A T
authors.initials: AT
authors.lastname: Moore
mesh_terms: D004596:Electroretinography; D005654:Fundus Oculi; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008268:Macular Degeneration / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009759:Nystagmus, Pathologic / Q000209:etiology; D011379:Prognosis; D013285:Strabismus / Q000209:etiology; D014960:X Chromosome