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

To compare the clinical and imaging characteristics of isolated retinal astrocytic hamartoma (RAH) versus tuberous sclerosis complex (TSC)-associated RAH.

This retrospective multicenter study included 38 patients diagnosed with RAH between 2000 and 2023. Clinical data and imaging findings were evaluated, including color fundus photography, optical coherence tomography (OCT), B-scan ultrasonography, and fundus autofluorescence. Statistical comparisons were performed between isolated and TSC-associated RAH.

The mean patient age was 26 years, with a slight male predominance (55%). Bilateral involvement was more common in TSC-associated RAH (55%). Overall, optical coherence tomography (OCT) of 18 eyes revealed optically empty cavities (44%), inner retinal disorganization (13%), outer retinal disorganization (8%), complete retinal disorganization (8%), and associated subretinal (SRF) and intraretinal fluid in 28% and 17% of eyes, respectively. Autofluorescence showed hyperautofluorescence in 86% and hypoautofluorescence in 14%, corresponding to calcified and noncalcified regions. Compared with isolated RAH, TSC-associated RAH demonstrated a higher prevalence of multifocal lesions (47% vs. 29%), superior quadrant involvement (86% vs. 40%), complete retinal disorganization (71% vs. 20%), and presence of SRF (100% vs. 0%).

TSC-associated RAH exhibits distinct morphological and imaging features, including greater multifocality and superior quadrant involvement. TSC-associated RAH exhibits more extensive retinal disorganization, frequent loss of deeper retinal layer visibility, and association with SRF, which may serve as an important diagnostic marker for systemic screening. Recognizing these differences aids ophthalmologists when evaluating RAH and associated TSC.