Retinal Hamartomas in a case of Tuberous Sclerosis

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dc.contributor.authorBhatt, Ruchitaen_US
dc.date.accessioned2023-07-14T07:55:15Z
dc.date.available2023-07-14T07:55:15Z
dc.date.issued2021-03
dc.description.abstractA 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 criteriaen_US
dc.identifier.affiliationsJunior Residenten_US
dc.identifier.affiliationsProfessor, Department of Ophthalmology, PIMS, Rural Medical College, Loni-413736, Rahata, Maharashtra, Indiaen_US
dc.identifier.citationBhatt Ruchita . Retinal Hamartomas in a case of Tuberous Sclerosis. VIMS Health Science Journal. 2021 Mar; 8(1): 43-46en_US
dc.identifier.issn2348-523X
dc.identifier.issn2454-1982
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/219094
dc.languageenen_US
dc.publisherDr. Vithalrao Vikhe Patil Foundation Ahmednagaren_US
dc.relation.issuenumber1en_US
dc.relation.volume8en_US
dc.source.urihttps://doi.org/10.46858/vimshsj.8109en_US
dc.subjectRetinal hamartomasen_US
dc.subjectNeurocutaneous syndromeen_US
dc.subjectTuberous sclerosis complexen_US
dc.titleRetinal Hamartomas in a case of Tuberous Sclerosisen_US
dc.typeJournal Articleen_US
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