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

Meghana Kalavar, Jose J. Echegaray, Noy Ashkenazy, Craig McKeown, Audina M. Berrocal

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
JournalOphthalmic Genetics
DOIs
StateAccepted/In press - 2021

Keywords

  • Aplasia cutis congenita
  • B-scan
  • choroidal calcifications
  • oculoectodermal syndrome
  • pediatric retina
  • ultrasound

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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