A case of autosomal dominant optic atrophy with decreased contrast sensitivity of S-cones

Abstract

【Purpose】We reported a patient with autosomal dominant optic atrophy (ADOA) whose cone contrast threshold had been tested using the ColorDx^®CCT-HD™ (ColorDx).

【Case】The patient was a 38-year-old male. Genetic testing revealed an OPA1 gene mutation and he was diagnosed with ADOA. The best corrected decimal visual acuity was 1.5 in the right and 1.2 in the left eyes. Several color vision tests were performed for each eye. He passed the Ishihara color vision test and the Panel D-15 test. The result of the Farnsworth-Munsell 100-hue test also indicated normal color vision. The ColorDx test showed normal contrast scores for L- and M-cones, but a marked lower score for S-cones was observed.

【Conclusion】These results suggest that the ColorDx test may have better sensitivity in detecting color vision defects than the conventional color vision tests.