title: X-Linked retinoschisis associated to a novel intragenic microdeletion: case report.
abstract: BACKGROUND
  X-linked retinoschisis is a recessively inherited retinal degeneration. Clinical diagnosis can be challenging due to the highly variable phenotypic presentation. Also, clinical diagnostic tests may be normal at early stages of this condition. Therefore, genetic diagnosis has become a priceless tool in the management of this disease.
  
  
  METHODS
  We present a case of a 17-year-old caucasian male with foveal and peripheral schisis, along with Mizuo-Nakamura phenomenon. RS1 sequencing led to the discovery of an in-frame deletion not previously described in the literature.
  
  
  CONCLUSIONS
  Genetic deletions causative of X-linked retinoschisis are quite rare, since more than 80 % are caused by misssense mutations. In this particular case, its pathological effect comes from affecting a key element of the retinoschisin, the discoidin domain.
authors.affiliation: Instituto de Oftalmobiología Aplicada, Universidad de Valladolid, Valladolid, Spain. Clara.Alfageme@moorfields.nhs.uk.|NIHR Moorfields Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK. Clara.Alfageme@moorfields.nhs.uk.|Moorfields Eye Hospital, 162 City Rd, London, EC1V 2PD, UK. Clara.Alfageme@moorfields.nhs.uk.
authors.forename: Clara
authors.initials: C
authors.lastname: Vazquez-Alfageme
authors.affiliation: Instituto de Oftalmobiología Aplicada, Universidad de Valladolid, Valladolid, Spain.|Networking Research Center on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Zaragoza, Spain.
authors.forename: Roberto
authors.initials: R
authors.lastname: Reinoso
authors.affiliation: AC-Gen Reading Life, Valladolid, Spain.
authors.forename: Alberto
authors.initials: A
authors.lastname: Acedo
authors.affiliation: Instituto de Oftalmobiología Aplicada, Universidad de Valladolid, Valladolid, Spain.
authors.forename: Rosa M
authors.initials: RM
authors.lastname: Coco
mesh_terms: D000293:Adolescent; D005136:Eye Proteins / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D041441:Retinoschisis / Q000175:diagnosis* / Q000235:genetics*; D017384:Sequence Deletion; D044465:White People
chemical_list: D005136:Eye Proteins; C108726:RS1 protein, human