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Abstract
Purpose:
To analyze the structural and morphological characteristics of retinal astrocytic hamartomas in tuberous sclerosis pa-tients using fundus autofluorescence, fluorescein angiography and spectral-domain optical coherence tomography.
Case summary
Fundus examination, fundus autofluorescence, fluorescein angiography and spectral-domain optical coherence tomography were performed in three patients with tuberous sclerosis and the morphological and structural characteristics of reti-nal astrocytic hamartomas were analyzed. In the fundus autofluorescence, type 1 retinal astrocytic hamartoma showed hypo-fluorescence and type 3 showed central hyperfluorescence and surrounding hypofluorescence. Spectral domain optical coher-ence tomography showed dome-shaped hyper-reflectivity within the nerve fiber layer and focal adhesion of the vitreous cortex in the type 1 retinal astrocytic hamartoma. No abnormalities were observed in the outer retinal layer and retinal pigment epithelium. In the type 3 retinal astrocytic hamartoma, optical coherence tomography showed disorganization of retinal tissue and posterior shadowing. Intratumoral cavitation and moth-eaten appearance caused by intratumoral calcification were observed and the vit-reous cortex adhered to the top of the tumor and showed traction. Retinal arterial sheathing was observed in all cases and hy-per-reflectivity of the arterial wall was noted on optical coherence tomography.
References
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Figure 1.
Case 1. (A) Fundus photography shows a faintly gray-colored lesion below the macular (arrow) and arterial sheathing (as-terisk). (B) Fundus autofluorescence shows hypofluorescence (arrow). (C) Early phase of fluorescein angiography shows hypofluor-escence (white arrow) and hyperfluorescence (red arrow) with well developed capillary network in the tumor which is not visible in the fundus photography. (D) Late phase of fluorescein angiography shows hyperfluorescence (both white and red arrow) due to leakage. (E) Spectral domain optical coherence tomography shows two hyperreflective dome-shaped retinal tumors localized within the nerve fiber layer with a gradual transition from the surrounding normal retina. One of the tumor is not visible in the fundus pho-tography (red arrow). The vitreous cortex shows focal adhesions to the surface of the tumor (arrowhead). Retinal artery (asterisk) passing through the tumor has wall of high reflectivity and shows back shadowing.
Figure 2.
Case 2. (A) Fundus photography shows a faint semi-translucent lesion close to the optic disc in the right eye and arterial sheathings (asterisks). (B) Fundus autofluorescence shows hypofluorescence due to tumor (arrow). (C) Early phase of fluorescein angiography shows hypofluorescence (white arrow) and arterial narrowing (asterisks). (D) Late phase of fluorescein angiography shows mild hyperfluorescence due to leakage (arrow). (E) Spectral domain optical coherence tomography shows hyperreflective dome-shaped retinal tumor localized within the nerve fiber layer with a gradual transition from the surrounding normal retina. The vitreous cortex shows focal adhesions to the surface of the tumor (arrowhead). Retinal arteries (white asterisks) have walls of high reflectivity and show back shadowing, while the retinal vein (black asterisk) is indiscernible.
Figure 3.
Case 3. (A) Fundus photography shows multiple retinal hamartomas with calcified nodular central core surrounded by a relatively flat, smooth-surfaced, semitransparent periphery (red arrows) and faint semi-translucent lesion (white arrow). A large area of chorioretinal depigmentation is also seen (black arrow). (B) Fundus autofluorescence shows hypofluorescence (white arrow) and pinpoint hyperfluorescence in the center and surrounding hypofluorescence (red arrow). Chorioretinal depigmented lesion shows central hypofluorescence and surrounding hyperfluorescence. (C) Early phase of fluorescein angiography shows hypofluor-escence (red arrow). (D) Late phase of fluorescein angiography shows dot hyperfluorescence in the center and surrounding hyper-fluorescence (red arrow). (E) Spectral domain optical coherence tomography shows gradual transition from normal retina to the hy-perreflective intraretinal mass with loss of retinal organization and posterior shadowing. Note the moth-eaten optically empty spaces representing intralesional calcification (arrow). The vitreous cortex shows focal adhesions to the surface of the tumor (arrowhead). Retinal arteries (asterisks) have walls of high reflectivity. (F) Spectral domain optical coherence tomography of chorioretinal de-pigmentation shows focal loss of outer retinal layer, retinal pigment epithelial layer and choriocapillary layer.
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