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

David A RamirezWilliam V AnningerDrew H Scoles

Published in: Retinal cases & brief reports (2023)

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.

Keyphrases

optic nerve
optical coherence tomography
end stage renal disease
diabetic retinopathy
ejection fraction
newly diagnosed
chronic kidney disease
computed tomography
prognostic factors
peritoneal dialysis
magnetic resonance imaging
copy number
dna methylation
patient reported outcomes
magnetic resonance