Primary ocular presentation of tuberous sclerosis - A case report

Area of Science:

• Ophthalmology
• Neurology
• Genetics

Background:

• Tuberous sclerosis complex (TSC) is a genetic disorder causing tumors in various organs.
• Ocular manifestations of TSC can include retinal abnormalities, though they are often underdiagnosed.
• Early identification of ocular signs is crucial for timely management and preventing vision loss.

Observation:

• A 25-year-old male presented with decreased vision in his left eye.
• Ophthalmic examination revealed a hypopigmented elevated subretinal lesion over the optic disc with abnormal vasculature, hemorrhages, and macular fluid.
• B-scan ultrasonography showed a high spike over the disc with orbital shadowing, and fluorescein angiography confirmed abnormal retinal vasculature.

Findings:

• Systemic evaluation revealed characteristic features of tuberous sclerosis, including facial angiofibroma, ashleaf spots, dental pits, and intracranial tubers on CT scan.
• Intravitreal injection of bevacizumab was administered for the ocular findings.
• The patient showed significant visual and tomographic improvement following treatment.

Implications:

• This case highlights that abnormal retinal vascularization and exudation can be a presenting ocular feature of tuberous sclerosis in young individuals.
• Ophthalmologists should consider TSC in the differential diagnosis of unexplained retinal vascular abnormalities, especially in the presence of suggestive systemic signs.
• Intravitreal anti-VEGF therapy, such as bevacizumab, may be an effective treatment option for managing ocular manifestations of TSC.