title: Case report of an atypical early onset X-linked retinoschisis in monozygotic twins.
abstract: BACKGROUND
  X-linked Retinoschisis (XLRS) is one of the most common macular degenerations in young males, with a worldwide prevalence ranging from 1:5000 to 1:20000. Clinical diagnosis of XLRS can be challenging due to the highly variable phenotypic presentation and limited correlation has been identified between mutation type and disease severity or progression.
  
  
  METHODS
  We report the atypical early onset of XLRS in 3-month-old monozygotic twins. Fundus examination was characterized by severe bullous retinal schisis with pre-retinal and intraretinal haemorrhages. Molecular genetic analysis of the RS1 was performed and the c.288G > A (p. Trp96Ter) mutation was detected in both patients.
  
  
  CONCLUSIONS
  Early onset XLRS is associated with a more progressive form of the disease, characterized by large bullous peripheral schisis involving the posterior pole, vascular abnormalities and haemorrhages. The availability of specific technology permitted detailed imaging of the clinical picture of unusual cases of XLRS. The possible relevance of modifying genes should be taken into consideration for the future development of XLRS gene therapy.
authors.affiliation: Department of Translational Surgery and Medicine, Eye Clinic, University of Florence, Largo Brambilla, Florence, 3-50134, Italy.
authors.forename: Vittoria
authors.initials: V
authors.lastname: Murro
authors.affiliation: Ophthalmology Unit, Department of Pediatrics, Anna Meyer Children's University Hospital, Florence, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Caputo
authors.affiliation: Ophthalmology Unit, Department of Pediatrics, Anna Meyer Children's University Hospital, Florence, Italy.
authors.forename: Giacomo Maria
authors.initials: GM
authors.lastname: Bacci
authors.affiliation: Department of Translational Surgery and Medicine, Eye Clinic, University of Florence, Largo Brambilla, Florence, 3-50134, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Sodi
authors.affiliation: Department of Translational Surgery and Medicine, Eye Clinic, University of Florence, Largo Brambilla, Florence, 3-50134, Italy. dario.mucciolo@gmail.com.
authors.forename: Dario Pasquale
authors.initials: DP
authors.lastname: Mucciolo
authors.affiliation: Genetics and Molecular Medicine Unit, Department of Pediatrics, Anna Meyer Children's University Hospital, Florence, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Bargiacchi
authors.affiliation: Genetics and Molecular Medicine Unit, Department of Pediatrics, Anna Meyer Children's University Hospital, Florence, Italy.
authors.forename: Sabrina Rita
authors.initials: SR
authors.lastname: Giglio
authors.affiliation: Department of Translational Surgery and Medicine, Eye Clinic, University of Florence, Largo Brambilla, Florence, 3-50134, Italy.
authors.forename: Gianni
authors.initials: G
authors.lastname: Virgili
authors.affiliation: Department of Translational Surgery and Medicine, Eye Clinic, University of Florence, Largo Brambilla, Florence, 3-50134, Italy.
authors.forename: Stanislao
authors.initials: S
authors.lastname: Rizzo
mesh_terms: D004252:DNA Mutational Analysis; D004200:Diseases in Twins; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree; D012160:Retina / Q000000981:diagnostic imaging*; D041441:Retinoschisis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D013997:Time Factors; D041623:Tomography, Optical Coherence; D014430:Twins, Monozygotic; D014792:Visual Acuity
chemical_list: D005136:Eye Proteins
keywords: Bullous peripheral schisis; Case report; Juvenile retinoschisis; RS1; X-linked retinoschisis