Which of the following is a common ocular manifestation of Tuberous Sclerosis Complex (TSC)?

Appeared in: BTSC Staff Nurse 30July-2025

Explanation

Retinal astrocytic hamartomas are benign, non-cancerous growths composed of glial cells found on the retina.
They are considered a major diagnostic criterion for Tuberous Sclerosis Complex (TSC), a genetic neurocutaneous disorder.
These lesions are found in approximately 50% of individuals with TSC and can appear as classic 'mulberry' lesions or flatter, smoother plaques.
Their presence is a strong indicator for TSC and prompts further systemic evaluation.

Option B: Ectropion (eyelid turning outward) and entropion (eyelid turning inward) are malpositions of the eyelids. They are not characteristic features of TSC.
Option C: While glaucoma can occur in various conditions, it is not a primary or common feature of TSC. Schaffer's sign is related to pigment release in the eye, often seen with pigment dispersion syndrome or after certain procedures, not TSC.
Option D: Cataracts, strabismus (misaligned eyes), and amblyopia (lazy eye) are general ophthalmologic conditions and are not specific or hallmark signs of TSC.

Clinical Relevance

Nursing practice connection: This is primarily an exam-oriented knowledge point with limited direct bedside application, so retain Ocular manifestations of Tuberous Sclerosis Complex (TSC) as background academic context rather than a clinical decision trigger.
A comprehensive eye examination by an ophthalmologist is crucial for any child or adult suspected of having TSC, as retinal findings are a major diagnostic criterion.
TSC is a multisystem disorder requiring a multidisciplinary team approach for management, involving neurology, dermatology, cardiology, nephrology, and ophthalmology.
Early diagnosis allows for surveillance and management of associated complications like seizures, kidney problems, and brain tumors (SEGAs).

How to Approach the Question

First, identify the key terms in the question: 'Tuberous Sclerosis Complex (TSC)' and 'ocular manifestation'.
This is a factual recall question that tests knowledge of the clinical features of a specific genetic syndrome.
Recall the classic signs of TSC, which is one of the 'phakomatoses' or neurocutaneous syndromes.
Evaluate each option. Retinal astrocytic hamartomas are a well-known major diagnostic feature of TSC.
Eliminate the other options by associating them with different conditions (e.g., glaucoma with Sturge-Weber syndrome, cataracts with NF2) or by recognizing them as non-specific findings.

Concept Tested & Keywords

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E6 Nelson Textbook of Pediatrics(2024) — Volume 2 pp. 1465-1467, 1768-1770, 1464-1466

Practise the full BTSC Staff Nurse 30July-2025

Attempt every question from this paper in a timed mock, then review the full solution for each one.