A Case of TREX1-Associated Retinal Vasculopathy with Cerebral Leukodystrophy

Ophthalmol Retina. 2020 Jan;4(1):115-117. doi: 10.1016/j.oret.2019.07.014. Epub 2019 Jul 30.

Authors

Akshay S Thomas¹, Phoebe Lin²

Affiliations

¹ Casey Eye Institute, Oregon Health & Science University, Portland, Oregon.
² Casey Eye Institute, Oregon Health & Science University, Portland, Oregon. Electronic address: [email protected].

PMID: 31540853
DOI: 10.1016/j.oret.2019.07.014

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Brain Diseases / diagnosis
Brain Diseases / genetics*
DNA / genetics*
DNA Mutational Analysis
Exodeoxyribonucleases / genetics*
Exodeoxyribonucleases / metabolism
Follow-Up Studies
Humans
Male
Mutation*
Phosphoproteins / genetics*
Phosphoproteins / metabolism
Retinal Diseases / diagnosis
Retinal Diseases / genetics*
Retinal Vessels / pathology*
Tomography, Optical Coherence / methods

Substances

Phosphoproteins
DNA
Exodeoxyribonucleases
three prime repair exonuclease 1