ABSTRACT
A 21-year-old male patient suffering from epilepsy came for fundoscopic evaluation. Right eye showed a ?at, smooth surfaced well circumscribed, non-calci?ed translucent lesion of 1 disc dioptre size, inferior to the optic disc, obscuring underlying vessels & an opaque, calci?ed, yellow white lesion having irregular surface & margins with mulberry appearance, elevated, supero-nasal to the disc, obscuring the underlying vessels. Adenoma sebaceum, periungual ?bromas, 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 re?ective mass with retinal disorganization and moth-eaten spaces. 2D echo showed mild Left Ventricular Hypertrophy, diastolic dysfunction, trivial mitral and tricuspid regurgitation. Ultrasonography of abdomen & pelvis showed fatty liver and renal angiomyolipoma. It was interesting to note cardiac & hepatic involvement in addition to the standard tuberous sclerosis complex (TSC) major & minor diagnostic criteria
ABSTRACT
Tuberous Sclerosis is a multisystem disorder characterised by hamartomatous growth in any organ. Ophthalmic manifestation can be retinal or non- retinal. A 24 yr. old female diagnosed as Tuberous sclerosis was referred from Dermatology department. Full Ophthalmic examination was done. Patient was diagnosed with adenoma sebaceum of lid and retinal hamartoma in right eye
ABSTRACT
Tuberous sclerosis complex characterised by multiple benign tumours, is caused by mutation in the genes TSC1 and TSC2 coding for Hamartin and Tuberin respectively. We report a case of a 17 year old female patient who presented with classical Vogt’s triad characterized by seizures, mental retardation and adenoma sebaceous. She presented with Cutis Vertis Gyrata in addition to multiple retinal astrocytic hamartomas in her right eye with retinal pigment epithelium changes in both eyes and a normal anterior segment examination. Magnetic resonance imaging (MRI) of the brain showed subependymal giant cell astrocytomas and cortical tubers. Ultrasound of the abdomen showed bilateral renal angiomyoliposis. We are presenting this case as retinal hamartomas with five Major criteria are seen along with secondary Cutis Vertis Gyrata which is an extremely rare presentation of Tuberous sclerosis. Absence of most of the Minor criteria is not to be excluded.