CLINICAL CASE OF TUBEROUS SCLEROSIS AND DIAGNOSTIC POSSIBILITIES OF OPTICAL COHERENT TOMOGRAPHY AND ANGIOGRAPHY

Abstract

Objective(s). The aim is to determine the possibilities of optical coherence tomography (OCT), optical coherence tomography angiography (OCTA) of the eye in the diagnosis of tuberous sclerosis and to assess the dynamics of this rare pathological process. Methods. The clinical case of a 19-year-old patient with tuberous sclerosis with involvement in the pathological process of the visual organ is presented. Ophthalmological examination and also examination of related specialists are carried out. Visual acuity was of the right eye was 1.0 and of the left eye was 1.0 with correction. One pathological focus was detected on the right eye during ophthalmoscopy. Two focuses were revealed on the left eye. OCT and OCTA of the eye were performed on the device Optovue RTVue 100 XR Avanti (Optovue Inc, USA). OCT was analyzed in different modes. Automatic and manual segmentation were used in OCTA analysis. Results. OCT of the retina allowed to visualize homogeneous formations at the level of the inner layers of the neuroepithelium in the areas detected by ophthalmoscopy, and to exclude from the pathological process of the vitreous and choroid. The foci had clear boundaries and protruded into the vitreous. The retinal layers under the foci were dislocated and thinned, but the structure of all layers was clearly visible. Manual segmentation of OCTA showed a change in the location of large vessels of the superficial plexus and allowed to exclude the growth of abnormal vessels. Differential diagnosis was performed with retinoblastoma and inflammatory diseases, such as chorioretinitis. Confirmation of the type of phacomatosis in the patient was obtained by examination of other organs. The patient had 4 primary signs and 2 secondary signs of tuberous sclerosis. Conclusion. The use of OCT and OCTA allowed to segment the retina and choroid, localize the pathological process and detect signs of retinal hamartoma. Identified primary and secondary signs of tuberous sclerosis in combination with ophthalmic manifestations (presence of retinal hamartomas) made it possible to establish the diagnosis.