Purpose: To investigate comprehensive image findings in a patient with incomplete achromatopsia.
Methods: Observational case report.
Results: A 12-year-old girl was referred to our clinic with nystagmus, photophobia, poor best-corrected visual acuity, and impaired color vision since she was 5 years old. Her best-corrected visual acuity was 20/200 for both eyes. The fundus photography showed macula mottling, and fundus autofluorescence imaging showed a bull's eye–like maculopathy. The spectral domain optical coherence tomography revealed decreased outer nuclear layer thickness and inner and outer segment loss beneath the subfoveal area. The electroretinogram showed extinguished cone responses with relatively well-preserved rod responses.
Conclusion: Fundus autofluorescence and spectral domain optical coherence tomography may serve as screening tools for achromatopsia candidates, but the electroretinogram study remains the most reliable test for diagnosis.