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

Ophthalmic Genet. 2022 Apr;43(2):258-261. doi: 10.1080/13816810.2021.1998552. Epub 2021 Dec 13.


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.

Keywords: Aplasia cutis congenita; B-scan; choroidal calcifications; oculoectodermal syndrome; pediatric retina; ultrasound.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Calcinosis* / diagnosis
  • Dermoid Cyst*
  • Ectodermal Dysplasia* / complications
  • Ectodermal Dysplasia* / diagnosis
  • Humans

Supplementary concepts

  • Aplasia Cutis Congenita with Epibulbar Dermoids