Walsh & Hoyt: Autosomal-Dominant Progressive Optic Atrophy and Deafness

In 1974, Konigsmark et al. described six individuals in four generations who had congenital severe deafness and progressive midlife visual failure. Kollarits et al. subsequently described a second family with the same syndrome. In all of the cases, there were no systemic or neurologic abnormalities except for congenital sensorineural hearing loss. The hearing loss in these pedigrees was severe at birth, with none of the reported patients having developed speech. Hearing evaluation in several of the affected individuals revealed that they could hear amplified speech so that they might have developed adequate speech if they had been provided amplification in early childhood and training in oral as well as in manual language. Subtle visual dysfunction was present at an early age, as demonstrated by the 9-yearold son of the proposita in the family examined by Konigsmark et al., who had dyschromatopsia by the Farnsworth-Munsell 100-Hue test and bilateral optic pallor, worse temporally, despite visual acuity of 20/15 and bilaterally full fields. Most of the patients had normal acuity until at least 24 years of age.