FP515

A CASE STUDY OF TUBEROUS SCLEROSIS IN TWO GENERATIONS- A TALE OF TWO GENES

Background: Tuberous sclerosis complex is a genetic disorder characterized by autosomal dominant mutation of tumor suppressor genes TSC1&2 characterized by benign tumors affecting the neurologic, dermatologic, renal, cardiac & ocular systems.
Method: A case study of 15-year-old boy&his 50-year-old father diagnosed with tuberous sclerosis with refractory seizures referred from NIMHANS for ophthalmic evaluation.
Results: Ophthalmic evaluation of the father showed normal anterior&posterior segment and of the son showed multiple angiofibromas over lids with a normal anterior segment,with posterior segment of right eye having hamartoma just below the disc& a hypopigmented patch below the inferior arcade.
Conclusion: Ophthalmic findings in tuberous sclerosis including hamartomas are usually non-progressive & doesn’t hamper vision. Members of the same family can be affected with variable severity. Prompt screening with genetic counselling should be offered to families with affected members.