Novel gene mutation in a patient with Bietti crystalline dystrophy without corneal deposits

Clin Exp Ophthalmol. 2017 May;45(4):421-424. doi: 10.1111/ceo.12871. Epub 2017 Jan 18.

Authors

Naz Raoof^{1

2}, Andrea L Vincent^{1

2}

Affiliations

¹ Department of Ophthalmology, Faculty of Medical and Health Science, New Zealand National Eye Centre, University of Auckland, Auckland, New Zealand.
² Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand.

PMID: 28097764
DOI: 10.1111/ceo.12871

No abstract available

Publication types

Letter

MeSH terms

Adult
Cornea / pathology*
Corneal Dystrophies, Hereditary / genetics*
Corneal Dystrophies, Hereditary / metabolism
Corneal Dystrophies, Hereditary / pathology
Cytochrome P450 Family 4 / genetics*
Cytochrome P450 Family 4 / metabolism
DNA / genetics*
DNA Mutational Analysis
Humans
Mutation*
Retinal Diseases / genetics*
Retinal Diseases / metabolism
Retinal Diseases / pathology
Tomography, Optical Coherence

Substances

DNA
CYP4V2 protein, human
Cytochrome P450 Family 4

Supplementary concepts

Bietti Crystalline Dystrophy