title: Visual Impairment in Pseudoxanthoma Elasticum: A Survey of 40 Patients.
abstract: BACKGROUND
  Pseudoxanthoma elasticum is an inherited disorder of connective tissue characterized, among other symptoms, by impaired vision.
  
  
  OBJECTIVE
  To evaluate the nature and age of onset of ophthalmologic manifestations in pseudoxanthoma elasticum.
  
  
  METHODS
  Forty consecutive patients affected with pseudoxanthoma elasticum underwent measurements of their refractive error and visual acuity, together with slit-lamp examination.
  
  
  RESULTS
  The mean age of the patients (8 M, 32 F) was 43.35 years. Fifty-seven eyes (33 patients, mean age: 40.75 years) had a BCVA >20/50 whereas 23 eyes in 16 patients (mean age: 53.31 years) had ≤20/50. Seven patients (17.50%), all but one over 52 years old, were visually disabled. BCVA ≤20/50 in at least one eye was observed in 73.33% of patients of 52 years old or older and in 20.00% of patients younger than 52, respectively. Angioid streaks were observed in 75 eyes (93.75%) and extended toward the macula in 51 eyes from 29 patients. Macular involvement was observed for the first time at a mean age of 44.28 years. Neovascularization was observed in 28 eyes (17 patients; mean age: 51.70 years), all with poor BCVA.
  
  
  CONCLUSIONS
  Macular choroidal neovascularization is frequent in pseudoxanthoma elasticum, and accounts for the poor ophthalmologic natural history of the disease. Patients should be advised to self-monitor their visual acuity using the Amsler grid. The frequency of choroidal neovascularization appears age-dependent, suggesting that bi-yearly fundus examination is appropriate in young patients whereas patients older than 40 should be examined twice a year.
authors.affiliation: a Referral Center for Rare Ophthalmological Diseases, Department of Ophthalmology, Hopital Europeen Georges Pompidou, AP-HP , Paris , France .
authors.forename: Christophe
authors.initials: C
authors.lastname: Orssaud
authors.affiliation: b Department of Ophthalmology , University Paris Descartes , Paris , France .
authors.forename: Olivier
authors.initials: O
authors.lastname: Roche
authors.affiliation: a Referral Center for Rare Ophthalmological Diseases, Department of Ophthalmology, Hopital Europeen Georges Pompidou, AP-HP , Paris , France .|b Department of Ophthalmology , University Paris Descartes , Paris , France .
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Dufier
authors.affiliation: c Referral Center for Inherited Disorders of Connective Tissue, Division of Medical Genetics, Department of Paediatrics, CHU Raymond Poincare (AP-HP) , Garches , France , and.|d Department of Medical Genetics , UFR des sciences de la sante Simone Veil, University of Versailles -- St Quentin en Yvelines , Montigny , France.
authors.forename: Dominique P
authors.initials: DP
authors.lastname: Germain
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000793:Angioid Streaks / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D020256:Choroidal Neovascularization / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D005260:Female; D005451:Fluorescein Angiography; D006306:Health Surveys; D006801:Humans; D008297:Male; D008875:Middle Aged; D011561:Pseudoxanthoma Elasticum / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D012030:Refractive Errors / Q000150:complications; D066167:Slit Lamp; D014786:Vision Disorders / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D014792:Visual Acuity / Q000502:physiology
keywords: ABCC6 gene; ophthalmological complications; pseudoxanthoma elasticum