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DOI: 10.1055/a-2017-5252
Constellation of Different Retinal Lesions in Tuberous Sclerosis: A Case Report
Konstellation verschiedener Netzhautläsionen in Tuberöser Sklerose: ein interessanter Fall
Background
Tuberous sclerosis complex (TSC) is an autosomal dominant phacomatosis affecting 1 in 6000 people [1]. Patients affected by TSC develop multisystemic hamartoma involving the brain, eye, heart, skin, and other organs. According to the International Tuberous Sclerosis Complex Consensus Group [2], the definite diagnosis (revised in 2012) is based on genetic testing and identification of two major features or one major and at least two minor features. Retinal astrocytic hamartoma (RHA) is one the major feature criteria. It affects 44% of TSC patients [3]. In rare instances, an aggressive form, also known as giant cell astrocytoma, was described in young patients, mimicking retinoblastoma [4]. Retinal achromic patches constitute a minor feature and occurred in 39% of TSC cases [3]. Recently, other depigmented lesions arranged in peripheral bright streaks have been reported [5]. They seem to differ in size and distribution compared to the classic retinal achromic patches. We present a case of a teenager diagnosed with TSC whose fundus showed all the retina lesions previously mentioned.
Publication History
Received: 16 October 2022
Accepted: 15 January 2023
Article published online:
25 April 2023
© 2023. Thieme. All rights reserved.
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