Disc swelling in abetalipoproteinemia: a novel feature of Bassen-Kornzweig syndrome

Abstract

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.