title: Disc swelling in abetalipoproteinemia: a novel feature of Bassen-Kornzweig syndrome.
abstract: OBJECTIVE
  Abetalipoproteinemia is a very rare disease with multisystemic manifestations.
  
  
  METHODS
  Retrospective, case report.
  
  
  RESULTS
  We report a 9-year-old girl with a history of Bassen-Kornzweig syndrome diagnosed at the age of 3. The patient was referred to us by the pediatricians for ocular assessment. During the examination, an atypical pigmentary retinopathy and bilateral swelling of the optic discs were observed, with no consequences to her visual acuity.
  
  
  CONCLUSIONS
  Ophthalmic manifestations in Bassen-Kornzweig syndrome are not uncommon. We describe, for the first time, bilateral swelling of the optic discs, a sign that appears directly associated with abetalipoproteinemia.
authors.affiliation: Glaucoma Unit, 1st University Department of Ophthalmology, AHEPA Hospital, Thessaloniki, Greecee.
authors.forename: Mayssa B
authors.initials: MB
authors.lastname: Nasr
authors.forename: Chrysanthos
authors.initials: C
authors.lastname: Symeonidis
authors.forename: Dimitrios G
authors.initials: DG
authors.lastname: Mikropoulos
authors.forename: Nikos
authors.initials: N
authors.lastname: Kozeis
authors.forename: Ioannis
authors.initials: I
authors.lastname: Tsinopoulos
authors.forename: Stavros A
authors.initials: SA
authors.lastname: Dimitrakos
authors.forename: Anastasios G P
authors.initials: AG
authors.lastname: Konstas
mesh_terms: D000012:Abetalipoproteinemia / Q000175:diagnosis* / Q000178:diet therapy; D002648:Child; D003241:Consanguinity; D004032:Diet; D005260:Female; D006801:Humans; D008055:Lipids / Q000008:administration & dosage; D009898:Optic Disk / Q000473:pathology*; D010211:Papilledema / Q000175:diagnosis* / Q000178:diet therapy; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000178:diet therapy; D012189:Retrospective Studies; D041623:Tomography, Optical Coherence; D014792:Visual Acuity; D014815:Vitamins / Q000008:administration & dosage
chemical_list: D008055:Lipids; D014815:Vitamins