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 language | English (US) |
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Pages (from-to) | 258-261 |
Number of pages | 4 |
Journal | Ophthalmic Genetics |
Volume | 43 |
Issue number | 2 |
DOIs | |
State | Published - 2022 |
Externally published | Yes |
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)