Clinical features and Optical Coherence Tomography findings of Retinal Astrocytic Hamartomas in Chinese Tuberous Sclerosis Complex Patients

Abstract

Purpose : Retinal astrocytic hamartomas(RAH) is the most common ophthalmic manifestation in tuberous sclerosis complex(TSC). However, there was lack of studies on TSC-associated RAHs in Chinese population. We performed a retrospective observational study on a large series with TSC to examine the prevalence and investigate the clinical and spectral-domain optical coherence tomography (SD-OCT) features of RAH in Chinese patients.

Methods : We reviewed the medical records of 91 consecutive patients with established TSC diagnosis at a tertiary medical center from July, 2012 to August 2018. Detailed ophthalmic examination was performed at presentation, and fundus findings regarding RAH were documented by fundus photography and SD-OCT. RAHs were classified into type 1(flat, non-calcified), type 2(multinodular, calcified) and type 3(transitional) for further analysis, and Fisher exact test was used to analyze the association between age and RAH types.

Results : RAHs were seen in 69 of the 91 patients(75.8%) for a total of 211 lesions and 50.7% of the patients(35/69) showed bilateral retinal involvement. Type 1 RAH was found the most common morphological type with a prevalence of 94.2%(65/69), while type 2 and type 3 RAH with 7.2%(5/69) and 18.8%(13/69) respectively. Almost 60% of type 2 RAH lesions were seen in patients under 20 and a significant correlation between age and RAH types was shown by Fisher exact test(p＜0.001). Overall, more than half of the RAHs located in temporal retina, but calcified lesions showed a relatively higher occurance in peripapillary(26.9% VS 9.2%) compared to the flat(shown in Table 1). By SD-OCT, non-calcified RAHs featured in hyperreflective thickening of RNFL with some degree of retinal disorganization, while multinodular calcified RAHs characterized with “moth-eaten” appearances representing intraretinal calcification with posterior dense optical shadowing.

Conclusions : Compared to previous large series studies conducted in Caucasians, the findings of this study demonstrated a higher prevalence of TSC-associated RAH, and an unexpected lower prevalence of calcified RAH lesions in Chinese(shown in Table 2), suggesting the possible role of ethnicity in RAH calcification. The characteristic features of RAHs on OCT include hyperreflective thickening RNFL with retinal disorganization, moth-eaten appearances and posterior shadowing.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.