A rare association of phakomatosis

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 (M...

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Bibliographic Details
Published inIndian Journal of Ophthalmology - Case Reports Vol. 1; no. 3; pp. 551 - 553
Main Authors Thangaraju, Dharmeswari, Sivakumar, Priya
Format Journal Article
LanguageEnglish
Published Medknow Publications and Media Pvt. Ltd 01.07.2021
Subjects
Case studies
Causes of
Connective tissue tumors
Diagnosis
Neurofibromatosis
Tuberous sclerosis
Vision disorders
India
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Summary: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.
ISSN:2772-3070
DOI:10.4103/ijo.IJO_2563_20