RP2 Rod-Cone Dystrophy Causes Spasmus Nutans-Like Nystagmus

J Neuroophthalmol. 2021 Mar 1;41(1):e91-e93. doi: 10.1097/WNO.0000000000000880.

Authors

Tae Keun Yoo¹, Sueng-Han Han, Jinu Han

Affiliation

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

PMID: 31972715
DOI: 10.1097/WNO.0000000000000880

No abstract available

Publication types

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

MeSH terms

Child, Preschool
Cone-Rod Dystrophies / genetics*
Cone-Rod Dystrophies / physiopathology
Electrooculography
Frameshift Mutation*
GTP-Binding Proteins / genetics*
Humans
Infant
Male
Membrane Proteins / genetics*
Spasms, Infantile / genetics*
Spasms, Infantile / physiopathology

Substances

Membrane Proteins
RP2 protein, human
GTP-Binding Proteins