Tuberous sclerosis associated with a retinal angioma

Area of Science:

• Ophthalmology
• Medical Genetics
• Oncology

Background:

• Tuberous sclerosis is a rare genetic disorder affecting multiple organs.
• Ocular manifestations in tuberous sclerosis can include retinal hamartomas.
• Differentiating retinal findings from other optic nerve pathologies is crucial.

Observation:

• A 62-year-old woman with known tuberous sclerosis presented with asymptomatic peripapillary retinal elevation in her left eye.
• Initial differential diagnosis included papilledema due to increased intracranial pressure.
• Ocular examination revealed an unusual peripapillary retinal elevation.

Findings:

• Retinal angiography demonstrated a peripapillary exophytic retinal angioma.
• An epipapillary astrocytic hamartoma was also identified in the affected eye.
• These findings confirmed a diagnosis distinct from papilledema.

Implications:

• This case highlights the diverse and sometimes atypical ocular presentations of tuberous sclerosis.
• Accurate diagnosis of retinal hamartomas is essential to avoid misdiagnosis of other conditions like papilledema.
• Understanding these specific retinal manifestations aids in comprehensive patient management for tuberous sclerosis.