Retinal Hamartomas in a case of Tuberous Sclerosis
DOI:
https://doi.org/10.46858/vimshsj.8109Keywords:
Retinal hamartomas, neurocutaneous syndrome, tuberous sclerosis complexAbstract
A 21 year old male patient suffering from epilepsy came for fundoscopic evaluation. Right eye showed a flat, smooth surfaced well circumscribed, non-calcified translucent lesion of 1 disc dioptre size, inferior to the optic disc, obscuring underlying vessels & an opaque, calcified,yellow white lesion having irregular surface & margins with mulberry appearance, elevated, supero-nasal to the disc, obscuring the underlying vessels. Adenoma sebaceum, periungual fibromas, Ash leaf macules were seen on general physical examination suggestive of tuberous sclerosis. MRI brain revealed subependymal nodules & subcortical tubers. OCT showed an optically hyper reflective mass with retinal disorganization and moth eaten spaces. 2D echo showed mild LVH , diastolic dysfunction, trivial mitral and tricuspid regurgitation .USG showed fatty liver and Renal angiomyolipoma. It was interesting to note cardiac & hepatic involvement in addition to the standard TSC major & minor diagnostic criteria.
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