Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy

Keyphrases

• Retinal Dystrophy 100%
• Presynaptic Terminal 100%
• Photoreceptor 100%
• Nonsyndromic 100%
• MFSD8 100%
• CLN7 100%
• Retinopathy 40%
• Retinal Diseases 40%
• Maculopathy 40%
• Neurological Diseases 20%
• Retina 20%
• Family Members 20%
• Genomic DNA (gDNA) 20%
• Macular Disease 20%
• Whole Genome 20%
• Macular 20%
• Neurodegenerative Conditions 20%
• Electrophysiology 20%
• South Asian 20%
• Immunofluorescence Microscopy 20%
• Asian Ethnicity 20%
• Outer Plexiform Layer 20%
• Immunohistology 20%
• Photopic 20%
• Retinal Imaging 20%
• Affected Family Members 20%
• Next-generation Sequencing 20%
• Compound Heterozygous mutation 20%
• Electroretinography 20%
• Single Flash 20%
• Ophthalmic Clinic 20%
• Amplitude Ratio 20%
• Syndromic 20%
• Founder mutation 20%
• Photoreduction 20%
• Whole Exome 20%
• Cone-rod Dystrophy 20%
• Alpha Wave 20%
• Murine Retina 20%
• Infantile Onset 20%
• Flash Electroretinogram 20%
• Mutation Combination 20%
• Photoreceptor Synapse 20%
• Late Infantile 20%
• Recessive mutation 20%
• Neuronal Ceroid Lipofuscinosis 20%
• Variant Severity 20%

Medicine and Dentistry

• Allele 100%
• Retina Dystrophy 100%
• Maculopathy 100%
• Photoreceptor 100%
• Retinopathy 66%
• Retina Disease 66%
• Genomic DNA 33%
• Immunofluorescence 33%
• Confocal Microscopy 33%
• Agents Acting on the Eye 33%
• Synapse 33%
• Neurologic Disease 33%
• Electrophysiology 33%
• Retinal Imaging 33%
• Electroretinography 33%
• Immunohistology 33%
• Outer Plexiform Layer 33%
• Next Generation Sequencing 33%
• Exome 33%
• Rod-Cone Dystrophy 33%
• Phototransduction 33%
• Batten Disease 33%

Biochemistry, Genetics and Molecular Biology

• Allele 100%
• Maculopathy 100%
• Photoreceptor Cell 100%
• Genomics 33%
• Immunofluorescence 33%
• Confocal Microscopy 33%
• Synapse 33%
• Next Generation Sequencing 33%
• Exome 33%
• Electrophysiology 33%
• Phototransduction 33%
• Batten Disease 33%
• Electroretinography 33%
• Neuronal Ceroid Lipofuscinosis 33%