title: Primary lens instability in ten related cats: clinical and genetic considerations.
abstract: OBJECTIVE
  To describe bilateral lens instability in 10 related domestic shorthair cats over three generations.
  
  
  METHODS
  Complete ophthalmic examinations were performed. Lentectomies were carried out. Sections of affected lenses focused on the equatorial area were examined by transmission electron microscopy. The potential involvement of several candidate genes (ADAMTS17, ADAMTSL4, ADAMTS10 and FBN1) known to be associated with lens luxation in other species was investigated.
  
  
  RESULTS
  The group of animals included 10 related cats, nine of them being affected by lens instability over three generations. Transmission electron microscopy showed the presence of zonular material at the lens equator. Signs of lens instability were not associated with other ocular disease. Analysis of the pedigree suggests a dominantly inherited condition. A mutation in ADAMTS17 was excluded, but a possible association between the condition and a microsatellite flanking FBN1 indicates this gene should be considered a strong candidate responsible for primary lens luxation in this pedigree.
  
  
  CONCLUSIONS
  These observations suggest an inherent zonular defect unrelated to extraneous factors. The family relationship is compatible with a possible genetic basis, and the pedigree suggests that the condition could be dominant. Data also suggest the mutation in the FBN1 gene could be responsible for primary lens luxation in this pedigree of cats.
authors.affiliation: Unité d'Ophtalmologie, Ecole Nationale Vétérinaire d'Alfort, Université Paris-Est, Maisons-Alfort Cedex, France.
authors.forename: G
authors.initials: G
authors.lastname: Payen
authors.forename: R L
authors.initials: RL
authors.lastname: Hänninen
authors.forename: S
authors.initials: S
authors.lastname: Mazzucchelli
authors.forename: O P
authors.initials: OP
authors.lastname: Forman
authors.forename: C S
authors.initials: CS
authors.lastname: Mellersh
authors.forename: M
authors.initials: M
authors.lastname: Savoldelli
authors.forename: S
authors.initials: S
authors.lastname: Chahory
mesh_terms: D051722:ADAM Proteins / Q000235:genetics*; D000818:Animals; D001483:Base Sequence; D002371:Cat Diseases / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002415:Cats; D005091:Exons; D005260:Female; D007906:Lens Subluxation / Q000235:genetics / Q000473:pathology / Q000601:surgery / Q000662:veterinary*; D007908:Lens, Crystalline / Q000473:pathology* / Q000648:ultrastructure; D008297:Male; D046529:Microscopy, Electron, Transmission / Q000662:veterinary; D009154:Mutation; D010375:Pedigree; D011446:Prospective Studies; D016415:Sequence Alignment
chemical_list: D051722:ADAM Proteins