Fundus Autofluorescence, Fluorescein Angiography and Spectral Domain Optical Coherence Tomography Findings of Retinal Astrocytic Hamartomas in Tuberous Sclerosis

PURPOSE: To analyze the structural and morphological characteristics of retinal astrocytic hamartomas in tuberous sclerosis patients 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 retinal astrocytic hamartomas were analyzed. In the fundus autofluorescence, type 1 retinal astrocytic hamartoma showed hypofluorescence and type 3 showed central hyperfluorescence and surrounding hypofluorescence. Spectral domain optical coherence 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 vitreous cortex adhered to the top of the tumor and showed traction. Retinal arterial sheathing was observed in all cases and hyper- reflectivity of the arterial wall was noted on optical coherence tomography. CONCLUSIONS: Fundus autofluorescence, fluorescein angiography and spectral-domain optical coherence tomography are helpful for the classification and diagnosis of retinal astrocytic hamartomas found in tuberous sclerosis patients as well as for differentiation from other lesions.

Review of spectral domain-enhanced depth imaging optical coherence tomography of tumors of the retina and retinal pigment epithelium in children and adults.

Background: Spectral domain (SD) enhanced depth imaging optical coherence tomography (EDI‑OCT) is a useful tool for anatomic, cross‑sectional imaging of retinal conditions. Aims: The aim was to identify characteristic patterns of retinal and retinal pigment epithelial tumors on EDI‑OCT in children and adults. Settings and Design: Retrospective review. Materials and Methods: Analysis of published reports and personal observations using office‑based EDI‑OCT for adults and portable hand‑held SD OCT for infants and children. Results: Using EDI‑OCT, retinal tumors such as small retinoblastoma, astrocytic hamartoma, and hemangioblastoma arose abruptly from the retina, immediately adjacent to normal retina. Small exophytic retinoblastoma and retinal hemangioblastoma showed the full‑thickness, homogeneous retinal disorganization with surrounding normal retina “draping” over the margins. Retinoblastoma occasionally had intralesional cavities and surrounding subretinal fluid. Hemangioblastoma often had adjacent intraretinal edema and subretinal fluid. Astrocytic hamartoma arose within the nerve fiber layer and sometimes with a “moth‑eaten” or cavitary appearance. Retinal pigment epithelial (RPE) lesions such as congenital hypertrophy of RPE appeared flat with shadowing, occasional subretinal cleft, and abrupt photoreceptor loss. Congenital simple hamartoma showed an abrupt elevation from the inner retina with crisp, dark posterior shadowing. Combined hamartoma of the retina/RPE showed vitreoretinal traction causing “sawtooth mini‑peak” or gently “maxi‑peak” folding of the retina. RPE adenoma often produces remote macular edema or epiretinal membrane and the tumor has an irregular, “rugged” surface with deep shadowing. Conclusions: Enhanced depth imaging optical coherence tomography shows characteristic patterns that are suggestive of certain retinal and RPE tumors.

Retinal Nerve Fiber Layer Defect Associated with Astrocytic Hamartoma in a Patient with Tuberous Sclerosis

PURPOSE: To report the progression of an astrocytic hamartoma of the right optic nerve head as well as the retina, and the progression of retinal nerve fiber defect associated with astrocytic hamartoma in a patient with tuberous sclerosis. CASE SUMMARY: A 6-year-old boy with tuberous sclerosis and an astrocytic hamartoma of the right optic nerve head, which was found at the time of ophthalmologie examinations, was referred from the pediatric neurologist for evaluation of the vigabatrin-associated visual field changes. Fundus examination revealed 1/2 disc diameter (DD)-sized astrocytic hamartoma located at the margin of the superior part of the optic nerve. The retina of the left eye was normal. Eighteen months after the first visit, enlarged optic disc hamartoma of the right eye and newly onset retinal astrocytic hamartoma located approximately 1.5 DD inferior to the fovea of the left eye were found. Three years later, an increase in the size of the astrocytic hamartoma of the right optic nerve and development of retinal nerve fiber defects were observed. CONCLUSIONS: Astrocytic hamartoma in patients with tuberous sclerosis is usually stable without progression. However, in our patient, astrocytic hamartoma showed progression, and development of retinal nerve fiber defects occurred. Regular follow-up is necessary for astrocytic hamartoma in patients with tuberous sclerosis.