Diffuse choroidal atrophy and Klinefelter syndrome

We report the first case of diffuse choroidal atrophy associated with Klinefelter syndrome. Retinal findings included midperipheral bone corpuscular pigmentation, large areas suggestive of choroidal atrophy, and unusual golden crystalline structures that apparently were mainly in the neurosensory retina. A sensorineural hearing deficit was also noted. Biochemical studies, including amino acid blood levels, were within normal limits. This case is of interest because of the rarity of association between Klinefelter syndrome and retinal or, in fact, any ocular abnormalities.