The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations

Keyphrases

• Inherited Retinal Degeneration 100%
• Ocular Phenotype 100%
• Autosomal Recessive 40%
• Pathogenic Variants 40%
• Systemic Disease 40%
• Ophthalmologist 20%
• Correct Diagnosis 20%
• Family Members 20%
• Hearing Impairment 20%
• Disease Genes 20%
• Whole Exome Sequencing 20%
• Consanguineous 20%
• Sanger Sequencing 20%
• Homozygosity Mapping 20%
• Clinical Diagnosis 20%
• Clinical Evaluation 20%
• Genetic Disease 20%
• Retinitis pigmentosa 20%
• Non-genetic 20%
• Molecular Diagnostics 20%
• Disease Prognosis 20%
• Retrospective Chart Review 20%
• Chart Review 20%
• Optical Coherence Tomography 20%
• Best-corrected Visual Acuity 20%
• Genetic Testing 20%
• Usher Syndrome 20%
• Genetic Condition 20%
• Prenatal Counseling 20%
• Disease Prediction 20%
• Ophthalmic Examination 20%
• Electroretinography 20%
• Fundus Image 20%
• Cycloplegic Refraction 20%
• Photo-optics 20%
• Genetic Aspects 20%
• Heterogeneous Conditions 20%
• Fundus Autofluorescence 20%
• Retinal Imaging 20%
• Reproductive Planning 20%
• Ocular Genetics 20%

Medicine and Dentistry

• Retina Degeneration 100%
• Systemic Disease 40%
• Agents Acting on the Eye 40%
• Disease 20%
• Symptom 20%
• Hearing Impairment 20%
• Counseling 20%
• Exome Sequencing 20%
• Autosomal Recessive Disorder 20%
• Clinical Trial 20%
• Autosomal Recessive Inheritance 20%
• Homozygosity 20%
• Genetic Disorder 20%
• Index Case 20%
• Sanger Sequencing 20%
• Optical Coherence Tomography 20%
• Best Corrected Visual Acuity 20%
• Genetic Screening 20%
• Molecular Diagnosis 20%
• Autofluorescence 20%
• Cycloplegic Agent 20%
• Retinitis pigmentosa 20%
• Usher Syndrome 20%
• Electroretinography 20%
• Retinal Imaging 20%

Biochemistry, Genetics and Molecular Biology

• Genetics 100%
• Exome Sequencing 25%
• Autosomal Recessive Inheritance 25%
• Homozygosity 25%
• Autosomal Recessive Disorder 25%
• Sanger Sequencing 25%
• Clinical Trial 25%
• Genetic Disorder 25%
• Optics 25%
• Retinitis pigmentosa 25%
• Genetic Screening 25%
• Electroretinography 25%
• Autofluorescence 25%
• Best Corrected Visual Acuity 25%