My 12 year old son was found to have two small yellow deposits on his left macula and slightly distorted OCT on routine eye examination. He has normal vision. His maternal grand mother has Stargardts so he has been referred for an Ophthalmology assessment.
He is extremely worried so we are considering whether yo proceed with the referral. Can you tell me whether these observations are always indicative of Stargardts or whether they could be a benign observation? There is no history of visual impairment in his fathers family.
Also, is there any benefit from an early diagnosis of Stargardts considering there is no treatment available?
I look forward to your reply.
Thanks for your Question
Stargardt's Macular dystrophy is a hereditary disease that is transmitted as autosomal recessive which mean both parents should be at least carrier for the gene.
Yellow deposit in the macular is benign thing in most of the cases and it's presenece doesn't mean Stargardt's disease. Many diagnostic tests should be done to confirm it.
So far there is no definite treatment for stargardt's macular dystrophy. New gene therapy for retinal dystrophyshows some promise and recently it is approved by FDA for the treatment of some forms of macular dystrophy. It is very expensive, around $400.000 per eye.
I prefer you to proceed with the referral and visit the eye doctor