TY  - GEN
AU  - Lockhart,Catherine M
AU  - Smith,Travis B
AU  - Yang,Paul
AU  - Naidu,Malini
AU  - Rettie,Allan E
AU  - Nath,Abhinav
AU  - Weleber,Richard
AU  - Kelly,Edward J
TI  - Longitudinal characterisation of function and structure of Bietti crystalline dystrophy: report on a novel homozygous mutation in 
SN  - 1468-2079
PY  - 2018///0214
KW  - Corneal Dystrophies, Hereditary
KW  - diagnosis
KW  - Cytochrome P450 Family 4
KW  - genetics
KW  - DNA
KW  - DNA Mutational Analysis
KW  - Electroretinography
KW  - Female
KW  - Fluorescein Angiography
KW  - Follow-Up Studies
KW  - Forecasting
KW  - Fundus Oculi
KW  - Genes, Recessive
KW  - Homozygote
KW  - Humans
KW  - Middle Aged
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Polymerase Chain Reaction
KW  - Retinal Diseases
KW  - Retinal Pigment Epithelium
KW  - pathology
KW  - Visual Acuity
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/bjophthalmol-2016-309696
ER  -