The usual suspects: A case series on bilateral astrocytic hamartomas in tuberous sclerosis
Year: 2025
Type: article
Study design: Case Report
Abstract: Hamartomas are non-malignant growths composed of abnormal cells in normal locations. Various hamartomas are seen in tuberous sclerosis (TS), a rare multisystem genetic disorder commonly involving the skin, brain, lungs, heart, kidneys, and eyes. It results from TS complex (TSC1) or TSC2 gene mutation that may occur sporadically or be inherited in an autosomal dominant pattern. We present three cases of TS with retinal hamartomas. These hamartomas usually remain undetected until they either cause breathing difficulties or TS-associated neuropsychiatric disorders. Angiomyolipomas and rhabdomyomas can also occur in TS and should be thoroughly investigated, as they pose a risk of fatal rupture and hemorrhage. The purpose of this case series is to familiarize an ophthalmologist with various presentations of TS and stress on importance of careful clinical examination of TS patients.
Authors: Nishi Meghna Satish, Neha Chawla Guliani, V. Rajshekhar, Hitisha Mittal, Anuj Mehta
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4408480237