Optical coherence tomography and electrophysiology in X-linked juvenile retinoschisis associated with a novel mutation in the XLRS1 gene.
Stanga
P E
PE
Department of Clinical Ophthalmology, Moorfields Eye Hospital and Institute of Ophthalmology, London, United Kingdom.
Chong
N H
NH
Reck
A C
AC
Hardcastle
A J
AJ
Holder
G E
GE
D000328:Adult; D004252:DNA Mutational Analysis; D004596:Electroretinography; D015785:Eye Diseases, Hereditary / Q000235:genetics* / Q000503:physiopathology; D005136:Eye Proteins / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D012160:Retina / Q000503:physiopathology; D012164:Retinal Diseases / Q000235:genetics* / Q000503:physiopathology; D014054:Tomography; D014792:Visual Acuity; D014960:X Chromosome / Q000235:genetics*
D005136:Eye Proteins; C108726:RS1 protein, human