Choroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal syndrome

Abstract

Purpose: To describe choroidal calcifications as an ophthalmic feature in aplasia cutis congenita (ACC) with oculoectodermal syndrome (OES). Observations: Two cases of ACC/OES with characteristic echographic evidence of choroidal calcifications are described. Conclusions and importance: The ophthalmic manifestations of ACC/OES may be expanded to include choroidal calcifications. The presence of a choroidal calcification with B-scan ultrasound in a case suspicious for ACC/OES may facilitate a more timely diagnosis and inform future follow-up regimens to monitor ophthalmic and systemic manifestations of this disease.