ArticleAmerican journal of ophthalmology case reports2025
Optic nerve and choroidal calcification in pediatric neurofibromatosis type 2.
Article in American journal of ophthalmology case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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4 authors.
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Abstract
We describe a teenage boy with gradually progressive blurred vision in right eye. He could appreciate hand motions in the right eye and 20/20 vision in the left eye. Ophthalmic examination revealed bilateral optic atrophy with yellow-white peri-papillary lesion in the right eye. Computed Tomography (CT) brain and orbit showed choroidal, optic nerve and intracranial calcifications. The Magnetic resonance (MR) imaging showed the calcification selectively involved the optic nerve sheath with no abnormal hyperintensity or enhancement of the optic nerve substance, suggestive of a bilateral optic nerve sheath meningioma. The work-up for metastatic calcification was normal. The molecular genetic testing revealed a heterozygous, missense variant in
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