An atypical presentation of retinal astrocytic hamartoma with co-occurring SEGA in a tuberous sclerosis patient

Abstract

Tuberous sclerosis complex (TSC) is a genetic disorder that causes noncancerous growths and tumors in various body systems. This case report discusses an unusual eye condition called retinal astrocytic hamartoma (RAH) in a TSC patient, along with a brain tumor called subependymal giant cell astrocytoma (SEGA). These conditions, linked to TSC gene mutations, can be atypical in size and cause complications like vitreous hemorrhage. Surgical treatment is generally effective. Recognizing similarities between SEGA and RAH can help with early detection and comprehensive care for TSC patients.

Keywords

• Retinal astrocytic hamartoma
• Tuberous sclerosis complex
• Diagnostic imaging
• Magnetic resonance imaging