Clinical features and optical coherence tomography findings of retinal astrocytic hamartomas in Chinese patients with tu
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ONCOLOGY
Clinical features and optical coherence tomography findings of retinal astrocytic hamartomas in Chinese patients with tuberous sclerosis complex Chenxi Zhang 1 & Kaifeng Xu 2 & Qin Long 1 & Zhikun Yang 1 & Rongping Dai 1 & Hong Du 1 & Donghui Li 1 & Zhiqiao Zhang 1 Received: 30 June 2019 / Revised: 1 September 2019 / Accepted: 12 September 2019 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Purpose To investigate the clinical features and spectral-domain optical coherence tomography (SD-OCT) findings of retinal astrocytic hamartoma (RAH) in Chinese patients with tuberous sclerosis complex (TSC). Methods The medical records of 91 consecutive patients with established TSC diagnosis were retrospectively reviewed. Fundus findings regarding RAH documented by fundus photography and SD-OCT at presentation were collected and analyzed. Results RAHs were seen in 69 of the 91 patients (75.8%); 50.7% of these patients showed bilateral retinal involvement. Type 1 RAH was found the most common type with a prevalence of 94.2%, while type 2 and type 3 RAH with 7.2% and 18.8% respectively. A significant correlation between age and RAH types was shown by Fisher’s exact test (p < 0.001). By SD-OCT, non-calcified RAHs featured in hyperreflective thickening of the retinal nerve fiber layer with some degree of retinal disorganization, while multinodular calcified RAHs characterized with moth-eaten appearances representing intraretinal calcification with posterior dense optical shadowing. Conclusion A higher prevalence of TSC-associated RAH but an unexpected lower prevalence of calcified RAHs was shown in Chinese compared with that of Caucasians. SD-OCT can be used to facilitate the detection and follow-up of RAHs. Keywords Ethnicity . Optical coherence tomography . Prevalence . Retinal astrocytic hamartoma . Tuberous sclerosis complex
Introduction Tuberous sclerosis complex (TSC) is a rare, autosomal dominant disease characterized by multisystem hamartomas, which involves the brain, heart, lung, kidney, skin, and eyes. Approximately 1:10,000 to 1:6000 people is estimated to be affected by TSC [1, 2]. Retinal astrocytic hamartomas Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00417-019-04476-y) contains supplementary material, which is available to authorized users. * Zhiqiao Zhang [email protected] 1
Department of Ophthalmology, Key laboratory of Ocular Fundus Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 1# Shuai Fu Yuan, Dongcheng District, Beijing 100730, China
2
Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
(RAHs), serving as one of the major criteria in TSC diagnosis, is the most common ophthalmic manifestation in TSC [1, 3]. Reviewed by Hodgson et al., RAHs occurred in approximately 50% of TSC patients, with 30% bilaterally affected [4]. As
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