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Combined hamartoma of the retina and retinal pigment epithelium associated with neurofibromatosis type-1

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Abstract

Background: Retinal tumors are occasionally seen in patients with neurofibromatosis type-1 (NF-1). These are usually astrocytic hamartomas or angiomas. Combined hamartoma of the retina and retinal pigment epithelium are tumors also described in NF-1, but this association has not been definitively established yet. Method: We report on a child with NF-1, who presented a combined hamartoma of the retina and retinal pigment epithelium in both eyes. Results: The diagnosis of bilateral combined hamartoma of the retina and retinal pigment epithelium in our patient was performed on the basis of the ophthalmoscopic appearance of the lesions. NF-1 was diagnosed following the current international clinical criterion, supplemented by neuroimaging findings. Conclusion: Despite the extreme rarity of this association, we believe that it is not coincidental, as the presence of a hamartomatous retinal lesion in a patient with a systemic hamartomatous neuroectodermic disease would be, at least, rational. Thus, NF-1 must be excluded in patients with combined hamartoma of the retina and retinal pigment epithelium.

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Vianna, R.N., Pacheco, D.F., Vasconcelos, M.M. et al. Combined hamartoma of the retina and retinal pigment epithelium associated with neurofibromatosis type-1. Int Ophthalmol 24, 63–66 (2001). https://doi.org/10.1023/A:1016316114746

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  • DOI: https://doi.org/10.1023/A:1016316114746

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