Lockhart, Catherine M

Longitudinal characterisation of function and structure of Bietti crystalline dystrophy: report on a novel homozygous mutation in [electronic resource] - The British journal of ophthalmology 02 2018 - 187-194 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1468-2079

10.1136/bjophthalmol-2016-309696 doi


Corneal Dystrophies, Hereditary--diagnosis
Cytochrome P450 Family 4--genetics
DNA--genetics
DNA Mutational Analysis
Electroretinography
Female
Fluorescein Angiography
Follow-Up Studies
Forecasting
Fundus Oculi
Genes, Recessive
Homozygote
Humans
Middle Aged
Mutation
Pedigree
Phenotype
Polymerase Chain Reaction
Retinal Diseases--diagnosis
Retinal Pigment Epithelium--pathology
Visual Acuity