Dominant optic atrophy with sensorineural hearing loss

Publisher Website
Google Scholar
Abstract
This paper describes a family with a recently recognized syndrome of hereditary optic atrophy and sensorineural hearing loss. The visual acuity was 0.3 to 0.7, and the optic atrophy was combined with a deutan color-vision defect. The degree of hearing loss was moderate, with the exception of one case who showed severe hearing loss and mutism. The syndrome was already manifest in early childhood and did not show marked progression. No metabolic or neurological disturbances were observed. Transmission is probably autosomal dominant, but X-chromosomal dominance cannot be ruled out because male-to-male transmission did not occur. Four families with a similar syndrome have been described in the literature.

This publication has 12 references indexed in Scilit: