COLOR VISION DEFECT
\kˈʌlə vˈɪʒən dˈiːfɛkt], \kˈʌlə vˈɪʒən dˈiːfɛkt], \k_ˈʌ_l_ə v_ˈɪ_ʒ_ə_n d_ˈiː_f_ɛ_k_t]\
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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 OPSIN genes (on X CHROMOSOME and CHROMOSOME 3, HUMAN) that code the photopigments for red, green and blue.
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Olivopontocerebellar Atrophies
- group inherited disorders which share progressive ataxia combination with atrophy CEREBELLUM; PONS; inferior olivary nuclei. Additional features include RIGIDITY; NYSTAGMUS; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; OPHTHALMOPLEGIA. familial has an earlier onset (second decade) and may feature spinal cord atrophy. sporadic form tends to present in the fifth or sixth decade, is considered a clinical subtype MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085)