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- Title
Retinal Astrocytoma in a 6-year-old Girl with Tuberous Sclerosis Complex.
- Authors
ÇELİK DÜLGER, Selda; TEKE, Mehmet Yasin; DİLLİ, Alper
- Abstract
Tuberous sclerosis complex (TSC) is neurocutaneous genetic disorder with hamartomas in various organ systems. Retinal astrocytoma that is one of the major diagnostic criteria of tuberous sclerosis, tends to be multiple and bilateral in patients with TSC. Retinal astrocytoma that is occurred in almost half of the patients with TSC, may start to appear in the first years of life. We report multiple and bilateral retinal astrocytomas in a 6-year-old girl with TSC that was diagnosed with genetic testing in a pediatric clinic five years ago. The patient was under vigabatrin treatment and follow-up by neurology department of pediatrics for epileptic seizures. Fundus examination of both eyes showed six astrocytic hamartomas on the retina and optical coherence tomography (OCT) demonstrated dome-shaped, elevated lesions arising from inner retinal layers with shadowing in the rest of the retinal layers.
- Subjects
ASTROCYTOMAS; RETINAL diseases; TUBEROUS sclerosis diagnosis; VIGABATRIN; ANTICONVULSANTS; OPTICAL coherence tomography; PEDIATRIC ophthalmology
- Publication
Türkiye Klinikleri Journal of Case Reports, 2020, Vol 28, Issue 3, p137
- ISSN
2147-9291
- Publication type
Case Study
- DOI
10.5336/caserep.2020-73268