Hamartoma astrocítico retinal bilateral en neurofibromatosis tipo 2: a propósito de un caso

Camila Casas; Esteban Virguez

doi:10.70313/2718.7446.v16.n04.266

Authors

Camila Casas Hospital Bernardino Rivadavia, Buenos Aires, Argentina
Esteban Virguez Hospital Bernardino Rivadavia, Buenos Aires, Argentina

DOI:

https://doi.org/10.70313/2718.7446.v16.n04.266

Keywords:

neurofibromatosis, astrocytic hamartomas, retina, CHRRPE

Abstract

Purpose: To present the clinical case of a patient with neurofibromatosis type 2 who had bilateral retinal astrocytic hamartomas, without accompanying symptomatology.

Clinical case: A 24-year-old patient with diagnosis of neurofibromatosis type 2 and history of multiple surgeries for schwannomas at the cavernous sinus level (2001), at the cervical level (2010), and currently with a tumor at the left orbital level (2021). Ophthalmological examination showed a visual acuity in the right eye (OD) without correction of 20/20 and in the left eye (OS) better corrected (-2.50 -2.00 x 160) with good light projection. Ocular motility was preserved in OD, but in OS there was a complete ophthalmoplegia and ptosis. Biomicroscopy showed a reactive pupil in OD and a hyper-reactive pupil with semi-mydriasis in OS. No presence of Lisch nodules in both eyes (OU) or other peculiarities. Intraocular pressure was 10 mmHg in OU. Fundus examination showed normal papilla in OD and inferior pallor in OI, with foveal lesion in OD and parafoveal lesion in OI, whitish-grayish. It was decided to perform a macular optical coherence tomography. Due to appearance and history, the diagnosis of bilateral retinal hamartomas was confirmed, with no impact on visual acuity.

Conclusion: Neurofibromatosis type 2 can present with retinal astrocytic hamartomas as an incidental finding in the fundus, being very rare its progression and the occurrence of complications, as occurred in the present case.

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