Chenxi Zhang1, Kaifeng Xu2, Qin Long1, Zhikun Yang1, Rongping Dai1, Hong Du1, Donghui Li1, Zhiqiao Zhang3. 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. 3. 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. zhangzhiqiao@sohu.com.
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.
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.