title: Clinical and molecular characterization of females affected by X-linked retinoschisis.
abstract: BACKGROUND
  X-linked retinoschisis (XLRS) is a leading cause of juvenile macular degeneration associated with mutations in the RS1 gene. XLRS has a variable expressivity in males and shows no clinical phenotype in carrier females.
  
  
  METHODS
  Clinical and molecular characterization of male and female individuals affected with XLRS in a consanguineous family.
  
  
  METHODS
  Consanguineous Eastern European-Australian family
  
  
  METHODS
  Four clinically affected and nine unaffected family members were genetically and clinically characterized. Deoxyribonucleic acid (DNA) analysis was conducted by the Australian Inherited Retinal Disease Register and DNA Bank.
  
  
  METHODS
  Clinical and molecular characterization of the causative mutation in a consanguineous family with XLRS.
  
  
  RESULTS
  By direct sequencing of the RS1 gene, one pathogenic variant, NM_000330.3: c.304C > T, p. R102W, was identified in all clinically diagnosed individuals analysed. The two females were homozygous for the variant, and the males were hemizygous.
  
  
  CONCLUSIONS
  Clinical and genetic characterization of affected homozygous females in XLRS affords the rare opportunity to explore the molecular mechanisms of XLRS and the manifestation of these mutations as disease in humans.
authors.affiliation: Centre for Eye Research Australia, University of Melbourne, Department of Ophthalmology, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
authors.forename: Sandra E
authors.initials: SE
authors.lastname: Staffieri
authors.affiliation: Macquarie University, Sydney, New South Wales, Australia.
authors.forename: Loreto
authors.initials: L
authors.lastname: Rose
authors.affiliation: Save Sight Institute, University of Sydney, Sydney, New South Wales, Australia.
authors.forename: Andrew
authors.initials: A
authors.lastname: Chang
authors.affiliation: Australian Inherited Retinal Disease Register & DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
authors.forename: John N
authors.initials: JN
authors.lastname: De Roach
authors.affiliation: Australian Inherited Retinal Disease Register & DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
authors.forename: Terri L
authors.initials: TL
authors.lastname: McLaren
authors.affiliation: Centre for Eye Research Australia, University of Melbourne, Department of Ophthalmology, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.|Lions Eye Institute, Centre for Ophthalmology and Visual Science, University of Western Australia, Perth, Western Australia, Australia.|School of Medicine, Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
authors.forename: David A
authors.initials: DA
authors.lastname: Mackey
authors.affiliation: Centre for Eye Research Australia, University of Melbourne, Department of Ophthalmology, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.|Lions Eye Institute, Centre for Ophthalmology and Visual Science, University of Western Australia, Perth, Western Australia, Australia.|School of Medicine, Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
authors.forename: Alex W
authors.initials: AW
authors.lastname: Hewitt
authors.affiliation: Australian Inherited Retinal Disease Register & DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
authors.forename: Tina M
authors.initials: TM
authors.lastname: Lamey
mesh_terms: D002648:Child; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D041441:Retinoschisis / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult
chemical_list: D005136:Eye Proteins; C108726:RS1 protein, human
keywords: X-linked retinoschisis; clinical genetics; molecular genetics