Retinal Astrocytoma: A Supportive Finding in Tuberous Sclerosis – An Experience from Nepal

Abstract

Aims: Tuberous sclerosis is a multiorgan tumor syndrome that is characterized by retinal astrocytic hamartomas, astrocytic tumors of the CNS, several unusual cutaneous lesions, mental retardation, spasms and a variety of cysts and tumors of other organs. Presentation of Case: Herein we report the cases of 2 children with a history of infantile spasm with angiofibromatosis lesions over the face, multiple ash-leaf lesions over the abdomen and retinal astrocytic hamartomas in the retina. Conclusion: It is important to be cognizant of the likely presence of systemic and ocular pathology in a child with mental retardation and skin lesions. Identification of retinal phakomatosis during ocular evaluation in any suspected case of Tuberous sclerosis can aid in the establishment of the diagnosis of the disease.