Giant Retinal Astrocytoma: A Case Report of an Uncommon Presentation of Tuberous Sclerosis in a Young Female

Table 1

Major and minor clinical, and genetic diagnostic criteria for definitive diagnosis of tuberous sclerosis.

Genetic diagnostic criteria	Major clinical diagnostic criteria	Minor clinical diagnostic criteria
(1) TSC 1 at 9q34.13 encoding hamartin protein; (2) TSC 2 at 16p13.3 encoding tuberin protein	(1) Three or more hypomelanotic “ash-leaf” macules (more than 5 mm in diameter); (2) Three or more angiofibromas or fibrous cephalic plaques; (3) Two or more ungual fibromas; (4) Shagreen patch; (5) Multiple retinal hamartomas; (6) Cortical dysplasias; (7) Subependymal nodules; (8) Subependymal giant cell astrocytomas; (9) Cardiac rhabdomyoma; (10) Lymphangioleiomyomatosis (LAM); (11) Two or more angiomyolipomas	(1) Confetti skin lesions; (2) More than three dental enamel pits; (3) Two or more intraoral fibromas; (4) Retinal achromic patch; (5) Multiple renal cysts; (6) Nonrenal hamartomas