Genetics and optical coherence tomography features in a child with an achromatic retinal patch.

BACKGROUND

Achromatic retinal patch is associated with tuberous sclerosis. Its role as a diagnostic feature is often overlooked.

MATERIALS AND

METHODS

A clinical case was retrospectively reviewed and reported.

RESULTS

A 5-year-old male with a history of seizure disorder and a germline TSC2 variant was found to have a hypopigmented lesion in the nasal macula, most consistent with an achromatic retinal patch. The optical coherence tomography features of the retinal finding is illustrated.

CONCLUSIONS

We highlight the importance of performing a retinal exam and genetic testing in cases that do not otherwise meet the clinical diagnostic criteria for tuberous sclerosis. The significance of an achromatic retinal patch in the setting of a TSC gene mutation of unclear pathogenic potential remains unknown.