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Achromatic retinal patch is associated with tuberous sclerosis. Its role as a diagnostic feature is often overlooked. A clinical case was retrospectively reviewed and reported. 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. 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.

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