Document Detail


Disc swelling in abetalipoproteinemia: a novel feature of Bassen-Kornzweig syndrome.
MedLine Citation:
PMID:  21484752     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Purpose. 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:
Mayssa B Nasr; Chrysanthos Symeonidis; Dimitrios G Mikropoulos; Nikos Kozeis; Ioannis Tsinopoulos; Stavros A Dimitrakos; Anastasios G P Konstas
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-4-5
Journal Detail:
Title:  European journal of ophthalmology     Volume:  -     ISSN:  1724-6016     ISO Abbreviation:  -     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-4-12     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9110772     Medline TA:  Eur J Ophthalmol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Glaucoma Unit, 1st University Department of Ophthalmology, AHEPA Hospital, Thessaloniki - Greece; and 2nd University Department of Ophthalmology, Papageorgiou Hospital, Thessaloniki - Greece.
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