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

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.