title: Clinical and surgical data of affected members of a classic CFEOM I family.
abstract: BACKGROUND
  Congenital fibiosis of the extraocular muscles (CFEOMI) refers to a group of congenital eye movement disorders that are characterized by non-progressive restrictive ophthalmoplegia. We present clinical and surgical data on affected members of a classic CFEOMI family.
  
  
  METHODS
  Ten members of a fifteen-member, three-generation Italian family affected by classic CFEOM participated in this study. Each affected family member underwent ophthalmologic (corrected visual acuity, pupillary function, anterior segment and fundus examination), orthoptic (cover test, cover-uncover test, prism alternate cover test), and preoperative examinations. Eight of the ten affected members had surgery and underwent postoperative examinations. Surgical procedures are listed.
  
  
  RESULTS
  All affected members were born with varying degrees of bilateral ptosis and ophthalmoplegia with both eyes fixed in a hypotropic position (classic CFEOM). The affected members clinical data prior to surgery, surgery procedures and postoperative outcomes are presented. On 14 operated eyes to correct ptosis there was an improvement in 12 eyes. In addition, the head position improved in all patients.
  
  
  CONCLUSIONS
  Surgery is effective at improving ptosis in the majority of patients with classic CFEOM. However, the surgical approach should be individualized to each patient, as inherited CFEOM exhibits variable expressivity and the clinical features may differ markedly between affected individuals, even within the same family.
authors.affiliation: Dipartimento di Scienze Oftalmologiche, Facoltà di Medicina e Chirurgia, Università degli Studi di Napoli "Federico II". magli@cds.unina.it
authors.forename: Adriano
authors.initials: A
authors.lastname: Magli
authors.forename: Teresa
authors.initials: T
authors.lastname: de Berardinis
authors.forename: Fabiana
authors.initials: F
authors.lastname: D'Esposito
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Gagliardi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001763:Blepharoptosis / Q000151:congenital / Q000503:physiopathology / Q000601:surgery*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005355:Fibrosis / Q000151:congenital; D006801:Humans; D008297:Male; D009801:Oculomotor Muscles / Q000473:pathology* / Q000601:surgery*; D013508:Ophthalmologic Surgical Procedures; D009886:Ophthalmoplegia / Q000151:congenital / Q000503:physiopathology / Q000601:surgery*; D010375:Pedigree; D011680:Pupil / Q000502:physiology; D014792:Visual Acuity / Q000502:physiology