Clinical features and optical coherence tomography findings of retinal astrocytic hamartomas in Chinese patients with tuberous sclerosis complex

Graefes Arch Clin Exp Ophthalmol. 2020 Apr;258(4):887-892. doi: 10.1007/s00417-019-04476-y. Epub 2020 Jan 2.


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.

MeSH terms

  • Adolescent
  • Adult
  • Astrocytes / pathology*
  • Child
  • China
  • Female
  • Fluorescein Angiography / methods
  • Follow-Up Studies
  • Fundus Oculi
  • Hamartoma / complications
  • Hamartoma / diagnosis*
  • Humans
  • Male
  • Middle Aged
  • Retina / pathology*
  • Retinal Diseases / complications
  • Retinal Diseases / diagnosis*
  • Retrospective Studies
  • Tomography, Optical Coherence / methods*
  • Tuberous Sclerosis / complications*
  • Tuberous Sclerosis / diagnosis
  • Young Adult