OPTIC NERVE HYPOPLASIA AND BILATERAL PERSISTENT FETAL VASCULATURE DUE TO TUBA1A TUBULINOPATHY.
Publication/Presentation Date
3-1-2025
Abstract
PURPOSE: To describe a case of TUBA1A -associated optic nerve hypoplasia and persistent fetal vasculature.
METHODS: Observational case report.
RESULTS: A female, full-term infant was found to have a Dandy-Walker malformation with cerebellar and brainstem hypoplasia, ventriculomegaly, and lissencephaly. Her ophthalmic examination was notable for persistent fetal vasculature, optic nerve hypoplasia, vitreous hemorrhage, and peripheral retinal nonperfusion. Subsequent genetic testing revealed a TUBA1A genetic variant.
CONCLUSION: Persistent fetal vasculature, peripheral retinal vascular abnormalities, and optic nerve hypoplasia may be associated with TUBA1A variants. These patients should be carefully evaluated with dilated retinal examination and fluorescein angiography to detect retinal perfusion abnormalities requiring treatment.
Volume
19
Issue
2
First Page
264
Last Page
266
ISSN
1937-1578
Published In/Presented At
Ramirez, D. A., Anninger, W. V., & Scoles, D. (2025). OPTIC NERVE HYPOPLASIA AND BILATERAL PERSISTENT FETAL VASCULATURE DUE TO TUBA1A TUBULINOPATHY. Retinal cases & brief reports, 19(2), 264–266. https://doi.org/10.1097/ICB.0000000000001540
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
38109746
Department(s)
Department of Pediatrics
Document Type
Article