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Category: Volume 08 Issue 02 February 2020
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Title: A Case Report on Tuberous Sclerosis with Associated Ectropion Uvea

Author: Raktima Baksi (Mandal)

 DOI: https://dx.doi.org/10.18535/jmscr/v8i2.145

Abstract

   

Phakomatosis syndrome are defined as a group of multisystem syndromes that have characteristic ophthalmic manifestations. They have familial incidence and congenital basis, having varied ocular profile of presentation, with some of them having serious ocular morbidity. Key features include retinal and uveal lesions. The common factor joining this group of disorder are presence of neurological, ophthalmological and cutaneous manifestations. All patients diagnosed with phakomatosis should be referred for neurocutaneous consultation, spinal cord imaging, neuroimaging and Electroencephalogram.

Most of the cases are reported from far East countries especially Japan, Mexico or Argentina. On the first week of February 2015 a male patient aged 15years,residing in Kishanganj district, Bihar came to visit our Ophthalmology OPD of M.G.M Medical College and Hospital, Kishanganj, Bihar with no vision since birth in both eyes. It was a rare case because he had adenoma sebaceum in his face.He was of low intelligence with no history of epilepsy. On slit lamp examination we found that he had ectropion uvea, microphthalmos, horizontal nystagmus and congenital cataract in his left eye and Phthisis bulbi, congenital cataract with horizontal nystagmus in his right eye

Keywords: Phakomatosis, adenoma sebaceum, ectropion uvea, microopthalmos, nystagmus, phthisis bulbi.

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Corresponding Author

Raktima Baksi (Mandal)

RMO-CT (Tutor), Dept. of Ophthalmology, Rampurhat Government Medical College, Birbhum