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EXUDATIVE RETINAL DETACHMENT AS THE PRESENTING FEATURE OF TUBEROUS SCLEROSIS COMPLEX
Supriya Arora1, Gauri Bhushan, Sriram Thirumalai
1Vitreo Retina services, Guru Nanak Eye Centre, Maulana Azad Medical College, New Delhi, India.
Retinal Cases & Brief Reports
|June 10, 2015
Summary
Exudative retinal detachment can be a rare presenting sign of tuberous sclerosis complex (TSC). This case highlights how retinal astrocytic hamartomas in TSC can lead to vision loss through exudative retinal detachment.
Area of Science:
- Ophthalmology
- Genetics
- Neurology
Background:
- Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the development of tumors in various organs.
- Ocular manifestations of TSC include retinal astrocytic hamartomas, which are typically benign.
Observation:
- A 14-year-old female presented with sudden vision loss in one eye.
- Ophthalmic examination revealed exudative retinal detachment in one eye and retinal astrocytic hamartomas in the other.
- Systemic evaluation confirmed TSC with characteristic skin lesions, brain tubers, and renal angiomyolipomas.
Findings:
- Spectral domain optical coherence tomography and ultrasound B-scan confirmed retinal detachment and identified a mass lesion.
- Fundus fluorescein angiography showed characteristic staining of the retinal lesions.
- Brain MRI revealed cortical tubers, consistent with TSC.
Implications:
- This case underscores that retinal astrocytic hamartomas, while usually stable, can rarely cause significant visual impairment through exudative retinal detachment.
- Early diagnosis and comprehensive management of TSC are crucial for preserving vision and overall health.
