Nearly 50% of individuals with TSC have involvement of one or both eyes, but visual loss is uncommon. This may be higher as many individuals with TSC do not receive a good eye exam that would reveal either hamartomas or depigmented areas of the retina.

Retinal hamartomas are benign and usually do not change over time. Rare instances have documented tumors that change over time. It is possible that some of the hamartomas do change over time but go unrecognized since some individuals with TSC do not receive repeated eye exams where the change would be noted.

Depigmented areas on the retina are seen in about 25% of the individuals with eye involvement in TSC. The significance of these findings is not known, but they may be important in the diagnosis of TSC in individuals with no other symptoms. These depigmented areas of the retina may have the same origin as those on the skin (hypopigmented macules), but this is not known at present.

Reviewed by Ashley Pounders, MSN, FNP-C, Director of Medical Affairs, TSC Alliance, November 2023.

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