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Pathophys and Cause

Cause:Genetic, autosomal dominant or recessive

Pathophys:Rhodopsin gene on chromosome 3 is mutated (Nejm 1990;323:1302)

Signs and Symptoms

Sx: 1st night blindness, then tunnel vision. Late loss of color vision, and blind eye by age 50-60 yr

Si:Optic nerve pallor, pigmentaton of retinal fundus, attenuated arteries