A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree

Eye (Lond). 2018 Apr;32(4):843-845. doi: 10.1038/eye.2017.303. Epub 2018 Jan 19.

Authors

M J Schnieders^{1

2}, W Goar^{2

3}, M Griess³, B R Roos^{2

3}, T E Scheetz^{2

3}, E M Stone^{2

3}, J H Fingert^{2

3}

Affiliations

¹ Department of Biochemistry, Carver College of Medicine, University of Iowa, Iowa, IA, USA.
² The Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa, IA, USA.
³ Department of Ophthalmology and Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa, IA, USA.

No abstract available

Publication types

Letter

MeSH terms

GTP Phosphohydrolases / genetics*
Genetic Predisposition to Disease
Humans
Mutation*
Optic Atrophy, Autosomal Dominant / genetics*
Pedigree

Substances

GTP Phosphohydrolases
OPA1 protein, human

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