Retinal dysfunction characterizes subtypes of dominant optic atrophy.

Maria Lucia CascavillaVincenzo ParisiGiacinto TrioloLucia ZiccardiEnrico BorrelliAntonio Di RenzoNicole BalducciCostanza LampertiStefania Bianchi MarzoliFatima DarvizehAlfredo A SadunValerio CarelliFrancesco BandelloPiero Barboni

Published in: Acta ophthalmologica (2017)

Preganglionic retinal impairment occurs in DOA with a clear genotype to retinal dysfunction association. Missense mutations are characterized by a far more severe functional impairment.

Keyphrases

optical coherence tomography
optic nerve
diabetic retinopathy
oxidative stress
intellectual disability
early onset
autism spectrum disorder