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CASE REPORT
Year : 2021  |  Volume : 1  |  Issue : 3  |  Page : 551-553

A rare association of phakomatosis


1 Department of General Ophthalmology, Aravind Eye Care, Puducherry, India
2 Department of Neuro Ophthalmology and Low Vision Services, Aravind Eye Care, Puducherry, India

Correspondence Address:
Dr. Priya Sivakumar
Department of Neuro Ophthalmology and Low Vision Services, Aravind Eye Care, Puducherry - 605 007
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_2563_20

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Simultaneous occurrence of neurofibromatosis and tuberous sclerosis is very rare. A 55-year-old hypertensive man was referred for ophthalmic evaluation. On examination, Lisch nodules were seen over the iris in both the eyes with fundus showing bilateral temporal pallor. Magnetic resonance imaging (MRI) brain was done to rule out optic pathway gliomas. MRI brain was negative for gliomas but showed subependymal nodules in the ventricles, a feature of Tuberous sclerosis. A screening computed tomography (CT) abdomen showed multiple angiomyolipoma in the kidney, which confirmed the diagnosis. It is important to be aware of this rare co-existence so that a devastating consequence can be prevented.


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