Spontaneous Regression of a Retinal Astrocytic Hamartoma in an Adolescent With Tuberous Sclerosis Complex

TL;DR

A rare case of spontaneous regression of retinal astrocytic hamartoma in a teenager with Tuberous Sclerosis Complex is reported, highlighting the importance of regular eye exams for TSC patients.

Contribution

This is a rare documented case of spontaneous regression of a retinal astrocytic hamartoma in a patient with Tuberous Sclerosis Complex.

Findings

Retinal astrocytic hamartomas in Tuberous Sclerosis Complex can spontaneously regress.

Routine fundus exams are essential for TSC patients to detect and monitor retinal abnormalities.

Early detection of vision-threatening RAHs allows for potential therapeutic interventions.

Abstract

Tuberous sclerosis complex (TSC) is a rare, autosomal dominant syndrome arising from mutations in tumor suppressor genes. Common ophthalmic findings include retinal astrocytic hamartomas (RAHs), retinal achromic patches, and eyelid angiofibromas. In this article, we report a case of an adolescent girl with TSC found to have bilateral RAHs, highlighting the necessity for routine fundus examinations in patients with TSC. Additionally, our case is a rare example of a RAH that spontaneously regressed. RAHs can develop at any age and may rarely threaten vision with potential complications including vitreous hemorrhage, vitreous seeding, exudative retinal detachment, glaucoma, optic nerve invasion, globe perforation, and blindness. If detected early, vision-threatening RAHs may benefit from a variety of therapies, including argon laser photocoagulation, photodynamic therapy, subthreshold micropulse laser photocoagulation, and intravitreal anti-vascular endothelial growth factor (VEGF) agents. A medical history and knowledge of typical manifestations of this phakomatosis and their corresponding physical examination and ophthalmic imaging characteristics aid in the diagnosis. Most retinal astrocytic hamartomas do not cause vision deficit and may be safely observed, and a subset, as seen in this case, may spontaneously regress.

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