Abstract

Study design: case series
Purpose: To report a rare case of tuberous sclerosis in two generations with symptoms and signs of varying severity.
Method: A case study of 15-year-old boy and 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 few small
angiofibromas over both eyelids and a normal anterior and posterior
segment and that 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 with hypopigmented patch
below the inferior arcade.
Conclusion: ophthalmic manifestations in tuberous sclerosis
including hamartomas are usually non-progressive and doesn’t
hamper vision. Even members of the same family can be affected with
variable severity. Prompt screening with genetic counselling should
be offered to families with affected members