Guerriero, S

Autosomal recessive bestrophinopathy: new observations on the retinal phenotype - clinical and molecular report of an Italian family. [electronic resource] - Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde 2011 - 228-35 p. digital

Publication Type: Case Reports; Journal Article

1423-0267

10.1159/000324472 doi


Child
Chloride Channels--genetics
DNA--genetics
Electrooculography
Electroretinography
Eye Proteins--genetics
Female
Genetic Predisposition to Disease
Genotype
Humans
Male
Mutation
Pedigree
Retina--physiopathology
Retinal Diseases--diagnosis
Tomography, Optical Coherence
Visual Acuity