Author: María Victoria Navarro Abellán (Spain)
Co-authors: Elisa Foulquie-Moreno, Celia Gómez-Molina, Raquel Soriano-Gil, Juan Antonio Sánchez-Perea, Manuel Almarcha-Menargues
Purpose
To report left optic nerve head astrocytic hamartoma (AH) in a patient with retinitis pigmentosa and make a differential diagnosis of AH by multimodal imaging and ultrasound.
Setting/Venue
Morales Meseguer Hospital, Murcia, Spain.
Methods
We present an observational case of AH documented photographically. Clinical data were gathered retrospectively from several visits. The data included corrected visual acuity (BCVA), anterior segment features, fundus examination, ultrasound scan, optical coherence tomography (OCT), autofluorescence and fluorescence angiography (FA).
Results
Periodic revision of a 60-year-old female patient being followed up for retinitis pigmentosa, treatment with Tamoxifen for breast cancer. BCVA was 20/50 in both eyes. Five years later, the ocular examination was unchanged except for the appearance of the optic nerve head lesion in the left eye. Fundus examination revealed a non-pigmented nodular lesión with translucent appearance, visible retinal vessels and bone spicule pigmentary changes at the retinal mid periphery typical of retinitis pigmentosa. OCT revealed a hyperreflective intraretinal mass. Autofluoresence and FA confirmed the diagnosis of optic nerve head hamartoma. Finally, the lesion was diagnosed as a non callcified endophytic AH. The appearance of a new mass in the optic nerve head made us to consider other differential diagnoses such as circumscribed choroidal haemangioma, amelanotic melanoma adjacent to the optic papilla, capillary haemangioblastoma excluded due to pinker colouring of vascular nature and breast cancer metástasis due to personal history, ruled out by absence of leopard skin, retinal folds and serous detachment.
Conlusions
AH of the optic nerve head and optic nerve is a rare tumor, which has been described in patients with retinitis pigmentosa, is very important to document any growth during the follow-up which is suggestive of AH. Multimodal imaging provides further insight and facilitates an early diagnosis. Differential diagnosis of a solitary mass in the optic nerve head is essential for the monitoring and treatment. Further investigations recommended to exclude tuberous sclerosis and neurofibromatosis if the lesion is bilateral.
Financial Disclosure
No financial disclousure
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