Tuberous sclerosis complex presenting as retinal hamartomas in a preterm infant: A case report
Journal Title: Eye Science (Yanke Xuebao) - Year 2021, Vol 36, Issue 10
Abstract
Tuberous sclerosis complex is a multisystemic disease with an autosomal dominant inheritance pattern. Missed diagnosis and misdiagnosis are common for patients with single manifestation in the early stage. There are few documented neonatal cases with ocular symptoms as primary presentation. Here we report a newborn boy presented with retinal hamartoma, retinal achromic patch, fetal cardiac rhabdomyoma and subependymal nodules. Subsequent genetic tests confirm a diagnosis of TSC.
Authors and Affiliations
Jing LI, Xuelin HUANG, Wei SUN, Ling LIU, Lian JIAN
Keywords
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- EP ID EP763582
- DOI 10.3978/j.issn.1000-4432.2021.08.14
- Views 21
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