Cockayne syndrome in adults: complete retinal dysfunction exploration of two case reports.

Marc Figueras-RocaVanessa BudiMontserrat MoratóAnna Camós-CarrerasJosé Esteban MuñozBernardo Sánchez-Dalmau

Published in: Documenta ophthalmologica. Advances in ophthalmology (2019)

Pigmentary retinopathy in CS could translate a wide dysfunction of the retina with major affection of external retinal layers of both cone and rod cells. Macular implication is also present and could explain progressive vision loss in such cases.

Keyphrases

diabetic retinopathy
optical coherence tomography
optic nerve
induced apoptosis
oxidative stress
case report
multiple sclerosis
cell cycle arrest
signaling pathway
cell proliferation