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.

KEYWORDS:

• Tuberous sclerosis
• genetics
• pediatric retina
• optical coherence tomography
• achromatic retinal patch

Acknowledgments

Giselle De Oliveira (Department of Ophthalmology), Bascom Palmer Eye Institute, University of Miami School of Medicine (Miami, Florida), ophthalmic photographer.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

The Department of Ophthalmology receives grant support from the NIH Center Core Grant P30EY014801 (Bethesda, Maryland) and the Research to Prevent Blindness Unrestricted Grant (GR004596) to the University of Miami.