The usual suspects: A case series on bilateral astrocytic hamartomas in tuberous sclerosis

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.

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Publication Details

Journal
Journal of Ophthalmic Research and Practice
Published
2025-03-15
DOI
https://doi.org/10.25259/jorp_36_2024
Primary Topic
Tuberous Sclerosis Complex Research
Type
article
Field-Weighted Citation Impact
0.00
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article

The usual suspects: A case series on bilateral astrocytic hamartomas in tuberous sclerosis

Harramb Mittal, V. Rajshekhar, Anuj Mehta, Nishi Meghna Satish et al.
Journal of Ophthalmic Research and Practice
Tuberous Sclerosis Complex Research
article

The usual suspects: A case series on bilateral astrocytic hamartomas in tuberous sclerosis

Harramb Mittal, V. Rajshekhar, Anuj Mehta, Nishi Meghna Satish, Neha Chawla Guliani
article en

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.

Journal of Ophthalmic Research and PracticeVol. 3
Lady Hardinge Medical College (IN), Vardhman Mahavir Medical College & Safdarjung Hospital (IN)
Openalex Percentile: Top 94%
Tuberous Sclerosis Complex Research
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