Retinal astrocytic hamartoma with/without tuberous sclerosis: A comparative analysis by multimodal imaging

Area of Science:

• Ophthalmology
• Genetics
• Oncology

Background:

• Retinal astrocytic hamartoma (RAH) is a benign intraocular tumor.
• Tuberous Sclerosis Complex (TSC) is a genetic disorder with multisystemic manifestations, including ocular findings.
• Distinguishing between isolated RAH and TSC-associated RAH is crucial for patient management and systemic screening.

Purpose of the Study:

• To compare the clinical and imaging characteristics of isolated RAH versus TSC-associated RAH.
• To identify specific features that differentiate the two forms of RAH.
• To assess the diagnostic utility of imaging findings in RAH.

Main Methods:

• Retrospective multicenter study of 38 patients with RAH (2000-2023).
• Evaluation of clinical data and imaging findings (fundus photography, OCT, ultrasonography, autofluorescence).
• Statistical comparison between isolated and TSC-associated RAH groups.

Main Results:

• TSC-associated RAH showed higher prevalence of multifocal lesions (47% vs. 29%) and superior quadrant involvement (86% vs. 40%).
• TSC-associated RAH exhibited more complete retinal disorganization (71% vs. 20%) and frequent subretinal fluid (100% vs. 0%).
• Optical coherence tomography revealed optically empty cavities and retinal disorganization in affected eyes.

Conclusions:

• TSC-associated RAH has distinct morphological and imaging features compared to isolated RAH.
• Multifocality, superior quadrant involvement, and subretinal fluid are key indicators of TSC-associated RAH.
• Recognizing these differences is vital for ophthalmologists to prompt systemic screening for TSC.