Outer retinal structural anomaly due to frameshift mutation in CACNA1F gene

MeSH terms

• Adolescent
• Calcium Channels, L-Type / genetics*
• Electroretinography
• Eye Diseases, Hereditary / diagnosis
• Eye Diseases, Hereditary / genetics*
• Fluorescein Angiography
• Frameshift Mutation*
• Genetic Diseases, X-Linked / diagnosis
• Genetic Diseases, X-Linked / genetics*
• Humans
• Male
• Myopia / diagnosis
• Myopia / genetics*
• Night Blindness / diagnosis
• Night Blindness / genetics*
• Retinal Bipolar Cells / pathology*
• Synapses
• Synaptic Transmission / genetics*
• Tomography, Optical Coherence
• Visual Acuity / physiology