Optic nerve hypoplasia and bilateral persistent fetal vasculature due to TUBA1A tubulinopathy.

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 exam was notable for persistent fetal vasculature, optic nerve hypoplasia, vitreous hemorrhage, and peripheral retinal non-perfusion. 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 exam and fluorescein angiography to detect retinal perfusion abnormalities requiring treatment.