Coats-like Exudative Vitreoretinopathy in NMNAT1 Leber Congenital Amaurosis

Ophthalmol Retina. 2021 Jul;5(7):624. doi: 10.1016/j.oret.2021.04.010.

Authors

Jinu Han¹, Tae Young Kim¹, Min Kim¹

Affiliation

¹ Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.

PMID: 34243968
DOI: 10.1016/j.oret.2021.04.010

No abstract available

Publication types

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

MeSH terms

Abnormalities, Multiple*
Child
DNA / genetics*
DNA / metabolism
DNA Mutational Analysis
Familial Exudative Vitreoretinopathies / diagnosis
Familial Exudative Vitreoretinopathies / genetics*
Familial Exudative Vitreoretinopathies / metabolism
Female
Humans
Leber Congenital Amaurosis / diagnosis
Leber Congenital Amaurosis / genetics*
Leber Congenital Amaurosis / metabolism
Mutation*
Nicotinamide-Nucleotide Adenylyltransferase / genetics*
Nicotinamide-Nucleotide Adenylyltransferase / metabolism
Ultrasonography

Substances

DNA
NMNAT1 protein, human
Nicotinamide-Nucleotide Adenylyltransferase