History/Chief Complaint
- A 22-year-old Hispanic male presented with poor vision since birth with no progression. Patient had no color vision, an increased sensitivity to light, and night vision better than day vision. He had been diagnosed with achromatopsia several years prior. Previous ERGs at that time showed an absent cone response, an absent flicker response to 30Hz and a normal scotopic response. Interestingly, his sister, 23, was also diagnosed with achromatopsia and is also presented in this Issue.
Clinical Findings
- BCVA 20/200 OU
- Nystagmus
- Ta 14/14
Zeiss Fundus Photography
- Color fundus photography revealed no obvious abnormalities except an ectopic macula In both eyes.
- Fundus autofluorescence (FAF) revealed a hypoautofluorescent oval zone in the macula of the right and left eye.