Retinal thinning in phenylketonuria and Gaucher disease type 3.

Susanne HopfAlexander K SchusterJulia B HennermannNorbert PfeifferSusanne Pitz

Published in: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie (2021)

Thinning of the NFL, GCL, and IPL, with thickened OPL, are both found in PKU and in GD3. Low dopamine concentrations in the retina might promote these effects. However, these data do not give evidence that retinal measurements can be used as a biomarker for disease severity in patients with GD3.

Keyphrases

diabetic retinopathy
optic nerve
optical coherence tomography
electronic health record
replacement therapy
big data
machine learning
deep learning
prefrontal cortex