PMC10359681_01
Bilateral retinal findings in a 43-year-old female patient with TSC. Fundus photo of the right eye (a) reveals a calcified, mulberry-shaped type 3 RAH superior to the nerve (red square) with hyper-autofluorescence (b) compatible with internal calcifications. Multiple, opaque, smaller lesions are visible along the inferior arcade (a), type 1 RAHs limited to the RNFL (yellow square) and iso-autofluorescent (b). c, d These solitary and flat type 1 RAHs are also present in the left eye (blue square); a nasal type 2 RAH is present in the left eye (c, green square) with elevation and some degree of retina traction (green square) and mild hyper-autofluorescence (d, green square).
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F1
On dilated examination, the right eye (Fig. 1a, red square) demonstrated an elevated whitish lesion superonasal to the optic nerve with hyper-autofluorescence features (Fig. 1b, red square) and SD-OCT mulberry-like appearance, consistent with type 3 RAHs (Fig. 1, red square). In addition, multiple white slightly elevated lesions, hyper-reflective at the level of the RNLF on SD-OCT (Fig. 1, yellow square) and iso-autofluorescent (Fig. 1b, yellow square), were present along the vascular arcades in the mid-periphery of the right eye, consistent with type 1 RAHs. The left eye exam (Fig. 1c) was remarkable for a nasal elevated, yellow lesion above the RNFLs (Fig. 1, green square) with minimal calcification, compatible with type 2 RAH, and one type 1 lesion in the superior periphery.
Systemic imaging studies of a 43-year-old female with TSC. MRI brain and orbit (a) shows left eye proptosis due to aggressive solid enhancing heterogenous infiltrative lesion arising from the lateral orbital wall with extensive bone destruction of left medial cranial fossa and extending into the orbital canal, displacing the left optic nerve medially. There is compressive mass effect on the left inferior rectus muscle as well as the left superior rectus muscle. Her CT abdomen (b) shows left renal enlargement, angiomyolipoma, and polycystic kidney disease. Her chest CT (c) shows a large left lung mass that on incisional biopsy was positive for a morphological diagnosis of a PEComa.
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F2
MRI brain and orbit was significant for a lesion arising from the lateral orbital wall with extensive bone destruction, displacing the left optic nerve medially and pushing the globe anteriorly (Fig. 2a). Her CT abdomen showed left renal enlargement, angiomyolipoma, and polycystic kidney disease (Fig. 2b). Her chest CT showed a large left lung mass with the intrathoracic and extrathoracic component, multiple bilateral nodules and cysts with small left pleural effusion, and left apical pneumothorax with multiple bone lytic lesions (Fig. 2c).