title: X-linked juvenile retinoschisis in a consanguineous family: phenotypic variability and report of a homozygous female patient.
abstract: OBJECTIVE
  To describe the phenotypic variability in a consanguineous family with genetically confirmed X-linked retinoschisis.
  
  
  METHODS
  Five patients, including one homozygous female, were characterized by clinical examination, optical coherence tomography, fundus autofluorescence, mapping of macular pigment optical density, electroretinography, and DNA testing.
  
  
  RESULTS
  The 36-year-old male index patient showed a ring of enhanced autofluorescence and outer retinal atrophy on optical coherence tomography. Electroretinography testing revealed a reduced a/b ratio. His mother presented with a central atrophic retina with markedly reduced autofluorescence signal and a surrounding ring of enhanced autofluorescence. The 40-year-old brother of the index patient and his 2 sons showed characteristic signs for X-linked retinoschisis, including retinal schisis and a reduced a/b ratio. Genetic testing revealed a c.293C>A mutation in the RS1 gene in all affected family members while the mother of the index patient was homozygous for this mutation.
  
  
  CONCLUSIONS
  X-linked retinoschisis can present with a wide phenotypic variability. Here, detailed family history and genetic testing established the diagnosis of X-linked retinoschisis despite striking differences in phenotypic presentation in affected subjects, homozygosity of one affected female, and seemingly dominant inheritance in three subsequent generations because of multiple consanguinity.
authors: *Department of Ophthalmology, University of Bonn, Bonn, Germany; and †Institute of Human Genetics, University of Regensburg, Regensburg, Germany.
authors: Martin
authors: M
authors: Gliem
authors: Frank G
authors: FG
authors: Holz
authors: Heidi
authors: H
authors: Stöhr
authors: Bernhard H F
authors: BH
authors: Weber
authors: Peter
authors: P
authors: Charbel Issa
mesh_terms: D000328:Adult; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012168:Retinal Pigments / Q000235:genetics; D041441:Retinoschisis / Q000175:diagnosis / Q000235:genetics*; D041623:Tomography, Optical Coherence; D055815:Young Adult
chemical_list: D005136:Eye Proteins; C108726:RS1 protein, human; D012168:Retinal Pigments