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Retinal Astrocytic Hamartoma – December, 2023

History:

A 64-year-old male presented with intermittent floaters in the right eye for a few months. He denied previous ocular history, but had a history of hypertension, cardiac pacemaker insertion, and gout.

Exam:

Visual acuity was 20/20 in the right eye and 20/25 in the left eye. Intraocular pressure was 15 in both eyes. Anterior segment exam was unremarkable. A dilated fundus exam of the right eye revealed a peripapillary elevated yellow lesion, dilated and tortuous vessels, and few superior disc hemorrhages (Fig 1).

The dilated fundus exam of the left eye was unremarkable (Fig 2).

OCT of the nerve of the right eye demonstrated heterogenous inner thickening and hyperreflectivity with empty spaces above the disc (Fig 3).

It was then revealed that the patient was diagnosed with retinal astrocytic hamartoma in childhood and an MRI was performed which revealed no systemic associations.

Differential Diagnosis:

• Retinal astrocytic hamartoma
• Optic nerve head drusen
• Choroidal metastasis
• Retinocytoma
• Uveal melanoma
• Combined hamartoma of the retina and RPE

Discussion:

Retinal Astrocytic Haramotoma

Retinal astrocytic hamartomas are benign glial cell tumors. They may be isolated, sporadic findings in up to 30-80% of cases, or associated with other conditions such as tuberous sclerosis, a phacomatosis in which retinal astrocytoma.

Patients with retinal astrocytic hamartomas and tuberous sclerosis are more likely to have concurrent giant cell astrocytomas, cognitive impairment, epilepsy, and renal angiomyolipomas. Therefore, diagnosis of tuberous sclerosis has important clinical implications.

Most retinal astrocytic hamartomas do not cause ocular issues and remain stable in size throughout life. However, rare complications, such as retinal traction, choroidal neovascular membrane, cystoid macular edema, and exudative retinal detachment, can occur. There is no cure for retinal astrocytic hamartoma. However, serial examinations are recommended for the evaluation and treatment for rare complications.

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References:

1. Shields CL, Say EAT, Fuller T, Arora S, Samara WA, Shields JA. Retinal Astrocytic Hamartoma Arises in Nerve Fiber Layer and Shows “Moth-Eaten” Optically Empty Spaces on Optical Coherence Tomography. Ophthalmology. 2016;123(8):1809-16.
2. Rowley SA, O'Callaghan FJ, Osborne JP. Ophthalmic manifestations of tuberous sclerosis: a population based study. British Journal of Ophthalmology. 2001;85(4):420-3.
3. Aronow ME, Nakagawa JA, Gupta A, Traboulsi EI, Singh AD. Tuberous Sclerosis Complex: Genotype/Phenotype Correlation of Retinal Findings. Ophthalmology. 2012;119(9):1917-23.