Dystrophy caused by mutations genes cases retinal dystrophies. Medical search. Frequent questions

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Anatomy23

Fundus Oculi Photoreceptor Cells, Vertebrate Retina Pigment Epithelium of Eye Photoreceptor Cells Muscle, Skeletal Retinal Pigment Epithelium Retinal Cone Photoreceptor Cells Retinal Rod Photoreceptor Cells Myoblasts X Chromosome Muscles Cornea Muscle Fibers, Skeletal Sarcolemma Chromosomes, Human, Pair 4 Rod Cell Outer Segment Cell Line Descemet Membrane Endothelium, Corneal Cells, Cultured Chromosomes, Human, Pair 19 COS Cells

Organisms7

Mice, Inbred mdx Rats, Mutant Strains Mice, Inbred C57BL Mice, Knockout Mice, Transgenic Escherichia coli Mice, Mutant Strains

Diseases54

Retinal Dystrophies Muscular Dystrophies Myotonic Dystrophy Muscular Dystrophy, Duchenne Corneal Dystrophies, Hereditary Retinal Degeneration Muscular Dystrophy, Animal Leber Congenital Amaurosis Retinitis Pigmentosa Fuchs' Endothelial Dystrophy Muscular Dystrophy, Facioscapulohumeral Retinal Diseases Muscular Dystrophy, Emery-Dreifuss Eye Diseases, Hereditary Laurence-Moon Syndrome Neuroaxonal Dystrophies Blindness Night Blindness Syndrome Microphthalmos Bardet-Biedl Syndrome Muscular Dystrophy, Oculopharyngeal Reflex Sympathetic Dystrophy Vitelliform Macular Dystrophy Alstrom Syndrome Macular Degeneration Optic Atrophy, Hereditary, Leber Usher Syndromes Optic Atrophies, Hereditary Choroid Diseases Kidney Diseases, Cystic Abnormalities, Multiple Optic Disk Drusen Disease Models, Animal Intellectual Disability Myotonic Disorders Vision Disorders Corneal Dystrophy, Juvenile Epithelial of Meesmann Muscular Diseases Color Vision Defects Neuromuscular Diseases Genetic Diseases, X-Linked Myotonia Nails, Malformed Genetic Predisposition to Disease Cardiomyopathies Keratoconus Photophobia Corneal Opacity Muscle Weakness Walker-Warburg Syndrome Polyendocrinopathies, Autoimmune Sarcoglycanopathies Corneal Diseases

Chemicals and Drugs45

cis-trans-Isomerases Eye Proteins Dystrophin Peripherins Sarcoglycans Codon, Nonsense Dystroglycans Utrophin Membrane Proteins Lipofuscin Carrier Proteins Nerve Tissue Proteins Rhodopsin Proteins Thymopoietins Intermediate Filament Proteins Collagen Type VI ATP-Binding Cassette Transporters Collagen Type VIII Muscle Proteins Rod Opsins Dystrophin-Associated Proteins DNA Primers Lamin Type A Creatine Kinase Guanylate Cyclase DNA Cytoskeletal Proteins Laminin RNA, Messenger Caveolin 3 Genetic Markers Dystrophin-Associated Protein Complex Codon Receptor Protein-Tyrosine Kinases Mutant Proteins Transcription Factors DNA-Binding Proteins Poly(A)-Binding Protein II Extracellular Matrix Proteins Nuclear Proteins Protein-Serine-Threonine Kinases Calpain RNA-Binding Proteins RNA Splice Sites

Analytical, Diagnostic and Therapeutic Techniques and Equipment29

Pedigree Electroretinography DNA Mutational Analysis Visual Acuity Chromosome Mapping Polymerase Chain Reaction Fluorescein Angiography Genetic Testing Amino Acid Substitution Sequence Analysis, DNA Heterozygote Detection Heteroduplex Analysis Tomography, Optical Coherence Disease Models, Animal Visual Field Tests Ophthalmoscopy Mutagenesis, Site-Directed Keratoplasty, Penetrating Models, Molecular Immunohistochemistry Cloning, Molecular Models, Genetic Blotting, Western Electrooculography Transfection Sequence Alignment Reverse Transcriptase Polymerase Chain Reaction Genetic Complementation Test Genetic Therapy

Psychiatry and Psychology4

Visual Acuity Visual Fields Intellectual Disability Vision, Ocular

Phenomena and Processes61

Mutation, Missense Mutation Point Mutation Genes, Recessive Consanguinity Frameshift Mutation Exons Genes, Dominant Phenotype Heterozygote Codon, Nonsense Base Sequence Visual Acuity Homozygote Polymorphism, Single-Stranded Conformational Genetic Linkage Dark Adaptation Germ-Line Mutation Genotype Amino Acid Sequence Amino Acid Substitution Exome Visual Fields Alleles Lod Score Mutation Rate Trinucleotide Repeat Expansion Haplotypes X Chromosome Sequence Deletion Mutagenesis Chromosomes, Human, Pair 4 Founder Effect Gene Deletion Protein Structure, Tertiary Polymorphism, Single Nucleotide Sequence Homology, Amino Acid Genetic Markers Vision, Ocular Protein Binding Codon Binding Sites Fluorescence Light Microsatellite Repeats Introns Suppression, Genetic Genetic Predisposition to Disease Polymorphism, Genetic Transfection RNA Splicing Gene Expression Regulation Alternative Splicing Polymorphism, Restriction Fragment Length Gene Expression Plasmids Chromosomes, Human, Pair 19 Transcription, Genetic Genetic Heterogeneity Mosaicism RNA Splice Sites

Disciplines and Occupations1

Immunohistochemistry

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Health Care3

Genetic Testing Age of Onset Family Health

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Disciplines and Occupations Information Science Health Care

Retinal Dystrophies Muscular Dystrophies Myotonic Dystrophy Muscular Dystrophy, Duchenne Corneal Dystrophies, Hereditary Retinal Degeneration Muscular Dystrophy, Animal Leber Congenital Amaurosis Retinitis Pigmentosa Mutation, Missense Fuchs' Endothelial Dystrophy Mutation Point Mutation Pedigree Electroretinography cis-trans-Isomerases Muscular Dystrophy, Facioscapulohumeral Eye Proteins Dystrophin Fundus Oculi Genes, Recessive Consanguinity DNA Mutational Analysis Frameshift Mutation Retinal Diseases Muscular Dystrophy, Emery-Dreifuss Mice, Inbred mdx Eye Diseases, Hereditary Laurence-Moon Syndrome Photoreceptor Cells, Vertebrate Exons Peripherins Retina Neuroaxonal Dystrophies Genes, Dominant Blindness Sarcoglycans Phenotype Heterozygote Codon, Nonsense Molecular Sequence Data Night Blindness Base Sequence Syndrome Pigment Epithelium of Eye Microphthalmos Bardet-Biedl Syndrome Dystroglycans Visual Acuity Homozygote Muscular Dystrophy, Oculopharyngeal Photoreceptor Cells Polymorphism, Single-Stranded Conformational Reflex Sympathetic Dystrophy Genetic Linkage Dark Adaptation Vitelliform Macular Dystrophy Chromosome Mapping Polymerase Chain Reaction Germ-Line Mutation Muscle, Skeletal Alstrom Syndrome Macular Degeneration Utrophin Retinal Pigment Epithelium Fluorescein Angiography Retinal Cone Photoreceptor Cells Genotype Retinal Rod Photoreceptor Cells Genetic Testing Amino Acid Sequence Optic Atrophy, Hereditary, Leber Amino Acid Substitution Usher Syndromes Optic Atrophies, Hereditary Age of Onset Exome Choroid Diseases Membrane Proteins Kidney Diseases, Cystic Sequence Analysis, DNA Abnormalities, Multiple Heterozygote Detection Heteroduplex Analysis Rats, Mutant Strains Lipofuscin Visual Fields Optic Disk Drusen Carrier Proteins Alleles Lod Score Tomography, Optical Coherence Disease Models, Animal Mutation Rate Nerve Tissue Proteins Rhodopsin Intellectual Disability Proteins Thymopoietins Myotonic Disorders

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