Choroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal syndrome. (4th March 2022)

• Record Type: Journal Article
• Authors: Kalavar, Meghana; Echegaray, Jose J.; Ashkenazy, Noy; McKeown, Craig; Berrocal, Audina M.
• Is Part Of: Ophthalmic genetics. Volume 43:Number 2(2022)
• Page Start: 258
• Page End: 261
• Publication Date: 2022-03-04
• Subjects: Aplasia cutis congenita -- oculoectodermal syndrome -- choroidal calcifications -- ultrasound -- B-scan -- pediatric retina; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2021.1998552
• Languages: English
• ISSNs: 1381-6810

Abstract

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.