Color vision defect as first symptom of progressive cone-rod dystrophy. 1990

M I Mäntyjärvi
Department of Ophthalmology, University of Kuopio, Finland.

A 15-year-old girl complained of color vision difficulties and was found to have an acquired color vision defect with no other abnormalities in the eyes. After 9 years, in addition to the color vision defect, there was gradual loss of visual acuity in both eyes, small central scotomas in the visual fields, elevation of the cone and rod thresholds in the dark adaptation, and decreased response in the photopic and scotopic electroretinogram. The diagnosis of a progressive cone-rod dystrophy was made. It is unusual for cone-rod dystrophy to begin with a distinct color vision defect only; the case report is presented.

UI MeSH Term Description Entries
D003117 Color Vision Defects Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue. Achromatopsia,Color Blindness,Monochromatopsia,Color Blindness, Acquired,Color Blindness, Blue,Color Blindness, Green,Color Blindness, Inherited,Color Blindness, Red,Color Blindness, Red-Green,Color Vision Deficiency,Deutan Defect,Protan Defect,Tritan Defect,Achromatopsias,Acquired Color Blindness,Blindness, Color,Blue Color Blindness,Color Blindness, Red Green,Color Vision Defect,Color Vision Deficiencies,Defect, Color Vision,Defect, Deutan,Defects, Color Vision,Deficiencies, Color Vision,Deficiency, Color Vision,Green Color Blindness,Inherited Color Blindness,Red Color Blindness,Red-Green Color Blindness,Vision Defect, Color,Vision Defects, Color,Vision Deficiencies, Color,Vision Deficiency, Color
D003119 Color Perception Tests Type of vision test used to determine COLOR VISION DEFECTS. Color Perception Test,Perception Test, Color,Perception Tests, Color,Test, Color Perception,Tests, Color Perception
D003623 Dark Adaptation Adjustment of the eyes under conditions of low light. The sensitivity of the eye to light is increased during dark adaptation. Scotopic Adaptation,Adaptation, Dark,Adaptation, Scotopic
D004596 Electroretinography Recording of electric potentials in the retina after stimulation by light. Electroretinographies
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D012174 Retinitis Pigmentosa Hereditary, progressive degeneration of the retina due to death of ROD PHOTORECEPTORS initially and subsequent death of CONE PHOTORECEPTORS. It is characterized by deposition of pigment in the retina. Pigmentary Retinopathy,Tapetoretinal Degeneration,Pigmentary Retinopathies,Retinopathies, Pigmentary,Retinopathy, Pigmentary,Tapetoretinal Degenerations
D014792 Visual Acuity Clarity or sharpness of OCULAR VISION or the ability of the eye to see fine details. Visual acuity depends on the functions of RETINA, neuronal transmission, and the interpretative ability of the brain. Normal visual acuity is expressed as 20/20 indicating that one can see at 20 feet what should normally be seen at that distance. Visual acuity can also be influenced by brightness, color, and contrast. Acuities, Visual,Acuity, Visual,Visual Acuities
D014794 Visual Fields The total area or space visible in a person's peripheral vision with the eye looking straightforward. Field, Visual,Fields, Visual,Visual Field

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