Introduction: Bourneville's tuberous sclerosis (BTS), is a rare congenital condition, it is an autosomal dominant phacomatosis characterized by the development of benign tumors like astrocytic hamartomas in the skin, the kidney, the heart, the brain, and the eye.
Through a case of BTS with bilateral and multiple retinal localization, we discuss the different clinical and paraclinical aspects of retinal astrocytic hamartomas (RAH).
Observation: 29-year-old patient, referred for ophthalmological examination because of a strong suspicion of BTS
The patient's BCVA is 10/10. The fundus shows a raspberry tumor on the left eye, below the upper temporal branch, whitish, partially calcified, of 1.5 papillary diameter, suggestive of a type 2 astrocytoma surmounted by another flat whitish lesion in favor of a type 1. On the right eye, two flat whitish nasal lesions evoking type 1 astrocytomas
The autofluorescence examination shows hyper autofluorescence of the lesions.
Fluorescein angiography showed masking of the choroid background in early phase and then hyperfluorescence from leakage of the dye in late phase.
SD-OCT of the tumor showed hyper-reflectivity of its surface, shadow cones and optically empty spaces representing intralesional calcification
Discussion:
BTS is an autosomal dominant genetic disorder, its diagnosis remains clinical, based on the association of at least two hamartomatous locations in the various target organs, in particular the retina, the skin, the brain, the kidneys and the heart.
RAH are of 3 types: type I: the most frequently found is a cottony nodule, flat or slightly protruding, not calcified, greyish and translucent, type II: multi-nodular, calcified, opaque tumor and type III: transitional between the two types 1 and 2.
The angiographic aspect typically shows, at an early phase, a masking of the choroidal background. In late phase, a diffuse hyperfluorescence by accumulation and impregnation of the dye over its entire surface.
On SD-OCT, we find a polycystic aspect with multiple hypo and hyper reflective rounded lesions in "Moth-Eaten" appearance with posterior shadow cones.
Conclusion:
Retinal damage during BTS is dominated by the presence of RAH. They are easily detected on angiography, in particular type 1 lesions which are difficult to visualize on the fundus, as well as on SD-OCT showing the characteristic moth-eaten appearance and the posterior shadow cone.
Key words: Sclerose tubereuse de Bourneville, Hamartome astrocytaire retinien, Angiofibrome
|
