Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype

Keyphrases

• Spectral Domain Optical Coherence Tomography (SD-OCT) 100%
• Whole Exome Sequencing 100%
• Affected Siblings 100%
• CRB1 100%
• Maculopathy 100%
• Photoreceptor 50%
• Proband 50%
• Fundus Autofluorescence 50%
• Macular Dystrophy 50%
• Retinal pigment Epithelium 50%
• Family Members 50%
• Microperimetry 50%
• Electroretinogram 50%
• Fundus Autofluorescence Imaging 50%
• CRB1 mutation 50%
• Optic Disc 25%
• Visual Function 25%
• Missense mutation 25%
• Macula 25%
• ABCA4 25%
• Foveal Sparing 25%
• Clinical Examination 25%
• Color Fundus Photography 25%
• Right Eye 25%
• Retinal Periphery 25%
• Macular 25%
• Ophthalmic Examination 25%
• Severely Affected 25%
• Segregation Analysis 25%
• Leber Congenital Amaurosis 25%
• Fundus Photography 25%
• CRB1 Gene 25%
• Observational Case Study 25%
• In(III) 25%
• Retinal Structure 25%
• Autofluorescence 25%
• Retinal Function 25%
• Associated Phenotypes 25%
• Molecular Genetics 25%
• Macular Atrophy 25%
• Affected Area 25%
• Disease-causing mutations 25%
• Concentric Rings 25%
• HyPer 25%
• New Phenotypes 25%
• Irregular Patterns 25%
• PRPH2 25%
• Arcade 25%

Medicine and Dentistry

• Exome Sequencing 100%
• Autofluorescence 100%
• Maculopathy 100%
• Spectral Domain Optical Coherence Tomography 80%
• Macular Degeneration 60%
• Disease 40%
• Fundus Photography 40%
• Retinal Pigment Epithelium 40%
• Vision 20%
• Clinical Examination 20%
• Photoreceptor 20%
• Agents Acting on the Eye 20%
• Missense Mutation 20%
• Optic Disc 20%
• Segregation Analysis 20%
• Visual Pigment 20%
• Leber Congenital Amaurosis 20%

Biochemistry, Genetics and Molecular Biology

• Exome Sequencing 100%
• Maculopathy 100%
• CRB1 100%
• Autofluorescence 83%
• Optics 66%
• Proband 33%
• Microperimetry 33%
• Vision 16%
• Missense Mutation 16%
• ABCA4 16%
• Leber's Congenital Amaurosis 16%
• Candidate Gene 16%
• Molecular Genetics 16%