title: Marfan syndrome: ocular findings and novel mutations-in pursuit of genotype-phenotype associations.
abstract: OBJECTIVE
  To analyze ocular involvement in patients diagnosed with Marfan syndrome (MFS), study their clinical findings and prognosis based on the type of FBN1 mutation, and evaluate possible genotype-phenotype correlations.
  
  
  METHODS
  Observational single-centre case series.
  
  
  METHODS
  Eleven patients diagnosed with MFS were included. All subjects met the Ghent criteria of MFS, the diagnosis was confirmed by genetic testing.
  
  
  METHODS
  All subjects underwent a complete ophthalmologic examination. We evaluated clinical data, the incidence of ectopia lentis (EL), and other eye disorders. The association of ocular signs with the type of mutation was analyzed.
  
  
  RESULTS
  Four of the 11 patients had EL, of which 3 developed secondary glaucoma, and 62.5% of the phakic patients had myopia. Other ocular abnormalities included strabismus, retinal tears, retinal detachment, and amblyopia. The encountered types of mutations were premature termination codon (PTC) in 7 patients, missense in 2 cases, 1 aberration of splicing, and 1 indel mutation. Two novel mutations were found. Of the patients with EL, 2 had a missense, 1 an indel, and 1 a nonsense mutation.
  
  
  CONCLUSIONS
  Myopia was the most frequent ocular involvement. Patients with a PTC mutation revealed to have a smaller risk of EL; however, more studies are required to indicate the mechanism of the correlation.
authors.affiliation: Department of Ophthalmology, Hospital Clinic of Barcelona, Barcelona, Spain. Electronic address: mjlatasi@clinic.ub.es.
authors.forename: Marta
authors.initials: M
authors.lastname: Latasiewicz
authors.affiliation: Department of Ophthalmology, Hospital Clinic of Barcelona, Barcelona, Spain.
authors.forename: Christian
authors.initials: C
authors.lastname: Fontecilla
authors.affiliation: Department of Ophthalmology, Hospital Clinic of Barcelona, Barcelona, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: Millá
authors.affiliation: Department of Biochemistry and Molecular Genetics, Hospital Clinic de Barcelona, Barcelona, Spain.
authors.forename: Aurora
authors.initials: A
authors.lastname: Sánchez
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000550:Amblyopia / Q000175:diagnosis / Q000235:genetics; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D004479:Ectopia Lentis / Q000175:diagnosis / Q000235:genetics; D005128:Eye Diseases / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D000071838:Fibrillin-1 / Q000235:genetics*; D056726:Genetic Association Studies; D005901:Glaucoma / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009216:Myopia / Q000175:diagnosis / Q000235:genetics; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; C000605722:FBN1 protein, human; D054392:Adipokines