EXUDATIVE RETINAL DETACHMENT AS THE PRESENTING FEATURE OF TUBEROUS SCLEROSIS COMPLEX

To report a case of exudative retinal detachment as the presenting feature of tuberous sclerosis complex.

A 14-year-old girl presented with loss of vision in the right eye for 1 month. Visual acuity was no perception of light in the right eye and 20/20 in the left eye. Clinical examination, fundus fluorescein angiography, spectral domain optical coherence tomography, and ultrasound B-scan was performed along with complete systemic evaluation.

On examination, the right eye had an exudative retinal detachment and the left eye had multiple lesions suggestive of retinal astrocytic hamartomas. Ultrasonography of the right eye revealed a total retinal detachment with subretinal exudates and an acoustically solid mass lesion in the inferonasal quadrant, whereas that of the left eye detected a small mass in inferonasal quadrant. Fundus fluorescein angiography of the left eye revealed staining in the late phase in the lesions. Spectral domain optical coherence tomography taken through the lesion demonstrated an elevated lesion with high reflectivity arising from inner retinal layers and causing backshadowing. On systemic examination, she had multiple skin colored bumps on cheeks and nose and multiple hypomelanotic macules on lower legs. Contrast-enhanced magnetic resonance imaging brain revealed features suggestive of multiple cortical tubers. Contrast-enhanced magnetic resonance imaging orbits showed a T2-hypointense nodule in the right globe medially with intense postcontrast enhancement, and contrast-enhanced magnetic resonance imaging abdomen detected multiple renal cysts suggestive of angiomyolipoma.

Retinal astrocytic hamartomas in association with tuberous sclerosis complex is considered to be a relatively stationary lesion that has little potential for aggressive behavior. In rare instances, however, a retinal astrocytic hamartomas can show progressive growth and cause exudative retinal detachment.