title: Long anterior lens zonules in late-onset retinal degeneration (L-ORD).
abstract: OBJECTIVE
  We report new findings of peripupillary iris atrophy and long anteriorly-inserted zonules in a family with late-onset retinal degeneration (L-ORD).
  
  
  METHODS
  The proband was noted to have anterior segment findings not previously described in L-ORD, an autosomal dominant condition resulting in severe visual impairment. A mutation in the C1QTNF5 (CTRP5) gene is causal. We identified family members with anterior segment findings.
  
  
  METHODS
  Family members were examined with slit-lamp biomicroscopy and psychophysical tests including dark adaptation and visual fields. Genetic testing for the C1QTNF5 mutation was carried out.
  
  
  RESULTS
  In this family with a proven mutation in this gene, peripupillary iris atrophy and abnormally long anterior zonular insertions were present before retinal changes and visual loss.
  
  
  CONCLUSIONS
  Anterior segment findings have not previously been reported and along with impaired dark adaptation may serve as an early marker for this condition thus facilitating counseling and possible therapeutic intervention.
authors.affiliation: Department of Ophthalmology, Princess Alexandra Eye Pavilion, Chalmers Street, Edinburgh EH3 9HA, Scotland, UK.
authors.forename: Visvaraja
authors.initials: V
authors.lastname: Subrayan
authors.forename: Brid
authors.initials: B
authors.lastname: Morris
authors.forename: Ana Maria
authors.initials: AM
authors.lastname: Armbrecht
authors.forename: Alan F
authors.initials: AF
authors.lastname: Wright
authors.forename: Baljean
authors.initials: B
authors.lastname: Dhillon
mesh_terms: D001284:Atrophy; D003094:Collagen / Q000235:genetics*; D004252:DNA Mutational Analysis; D003623:Dark Adaptation; D005260:Female; D006801:Humans; D007498:Iris / Q000473:pathology*; D007905:Lens Diseases / Q000175:diagnosis / Q000235:genetics*; D008022:Ligaments / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics*; D014792:Visual Acuity; D014794:Visual Fields
chemical_list: C487851:C1QTNF5 protein, human; D003094:Collagen