Walsh & Hoyt: Autosomal-Dominant Progressive Optic Atrophy with Progressive Hearing Loss and Ataxia (CAPOS Syndrome)

In this syndrome, described by Sylvester in 1958, a father and his six children were found to have bilateral optic atrophy and hearing loss, associated with ataxia and limb weakness. The onset of visual loss in these patients was between 2.5 and 9 years of age. The hearing loss was only moderate and, like the optic atrophy, was slowly progressive. The ataxia in these patients primarily affected the legs, withweakness and muscle wasting mainly affecting the shoulder girdle and hands. The relationship of this syndrome to Friedreichs ataxia was discussed in detail by Sylvester.