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

Abstract

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.