Retinal astrocytic hamartoma in tuberous sclerosis complex in an elderly person: a case report

Abstract

BackgroundSpectral domain optical coherence tomography (SD-OCT) is proposed as a way of predicting the development and likelihood of retinal astrocytic hamartoma (RAH) in tuberous sclerosis complex (TSC) in elderly patients.Case presentationThis report describes a case of RAH in TSC in an elderly patient. The patient was a 62-year-old woman and experienced pain in the lower left abdomen for two years. Bilateral renal angiomyolipoma, multiple hepatic angiomyolipoma and multiple pulmonary nodules were demonstrated using computed tomography (CT). Brain CT showed bilateral multiple calcification near by the cella lateralis. A clinical diagnosis of TSC was made. Visual acuity (decimal) in the right and left eye was determined to be 0.6 and 0.8, respectively. SD-OCT revealed a retinal tumour in the inner layer of the retina in the right fundus and a pre-retinal membrane which may have evolved later.ConclusionsA routine ophthalmic examination is advised for patients suspected of having TSC to prevent this condition from being overlooked. In addition, an OCT examination can be used to predict the development and likelihood of RAH.

Utility of multimodal ocular imaging in tuberous sclerosis complex-Review of literature along with a case illustration

“…The flat translucent RH lesion is identified on OCT as an hyper-reflective fusiform lesion located in the superficial most portion of the retina without underlying retinal layer disorganization or posterior shadowing. [ 8 ] The RAH shows characteristic features on OCT, including a gradual transition from a normal retina into an optically hyper-reflective mass with retinal layer disorganization, characteristic moth-eaten spaces, and posterior shadowing due to calcification. [ 9 ] In our case example, the OCT showed features of flat variety of RH.…”

Retinal Tumors Associated with Phacomatoses and Isolated Retinal Hamartoma

“…Tuberosklerozis çoklu sistemik hamartomlarla (deri, beyin, akciğerler, gözler, kalp, böbrekler ve kemikler dahil) karakterize, yüksek penetrasyon ve değişken fenotipik ekspresyon ile otozomal dominant kalıtılan, ilk defa 1880'de Bourneville tarafından tanımlanan bir fakomatozdur. [21][22][23] Sıklığı 1/6000 olarak bildirilen tuberosklerozis, tümör büyümesini inhibe eden hamartin ve tuberini kodlayan sırasıyla TSC1 (kromozom 9q34) ve TSC2 (kromozom 16p13) genlerinin mutasyonlarından kaynaklanmakta-dır. [24][25][26] TSC2 mutasyonları (%75-80), TSC1'den (%10-30) daha sık görülmekte ve daha şiddetli hastalığa neden olmaktadır.…”