PHAKOMATOSIS: INTRESTING CASES OF TUBEROUS SCLEROSIS WITH RETINAL ASTROCYTOMA
Journal Title: Journal of Evidence Based Medicine and Healthcare - Year 2015, Vol 2, Issue 20
Abstract
INTRODUCTION: Tuberous sclerosis complex (TSC) or Morbus Bourneville-Pringle disease is an autosomal dominant phakomatosis, first described by Desiree-Magloire Bourneville in 1880. Tuberous sclerosis is a genetic disorder characterized by the growth of numerous benign tumours in many parts of the body caused by mutations on either of two genes, TSC1 and TSC2. This rare genetic disorder is usually associated with a triad of seizures, mental retardation and cutaneous lesions. Approximately one half of all patients affected by TS develop at least one retinal astrocytoma in one eye. PRESENTATION OF CASES: In the department of ophthalmology, G.S.L Medical College, Rajahmundry, we came across 3 cases of tuberous sclerosis involving multi organ systems. Out of 3 cases, 2 cases were reported to be familial and 1case is sporadic, with a history of epilepsy with angiofibromatosis lesions over the face, multiple ash-leaf lesions over the abdomen, renal angiomyolipomas, multiple subependymal nodules in brain 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.
Authors and Affiliations
Srinivasa Rao K, Lakshmi Spandana I, Sanjeeva Kumar Desai
Keywords
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- EP ID EP228858
- DOI 10.18410/jebmh/2015/442
- Views 57
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