Journal d'ophtalmologie clinique et expérimentale
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Choroidal Melanoma in a Patient with Neurofibromatosis: a case report

Farah Benelkadri*, Mehdi El Filali, Basma Ouidani, Mohamed Kriet

Introduction: Neurofibromatosis type 1(NF1), is a neurodermal dysplasia. It is a multisystem hamartomatous disorder. The association of NF1 and uveal melanoma is also debatable, despite an embryological plausibility. We report a case of a choroidal melanoma in a patient with NF1.

Aim: Underline the importance of considering the diagnosis of choroidal melanoma when a choroidal mass is evident in patients with neurofibromatosis type1.

Observation: A 43-year-old woman with multiple cutaneous neurofibromas, cafe-au-lait spots, and a family history of NF who consults for rapidly progressive visual acuity on his right eye quantified at 1/10.

Results: The ophthalmologic examination revealed in the right eye, an elevated domed-shaped gray-yellowish colored lesion of the choroid with irregular margins not sharply demarcated, taking the macular region. Some orange pigmentation was noted.

Fluorescein angiography revealed multiple hyperfluorescent foci during the arteriovenous phase and progressive leaking, which resulted in marked staining of the mass late staining of the lesion and multiple pinpoint leaks at the level of the retinal pigment epithelium.

B-scan ultrasonography demonstrated an underlying choroidal mass, with an acoustically distinct inner boundary, and choroidal excavation. Optical coherence tomography demonstrated an underlying choroidal mass with serous retinal detachment and intra-retinal splitting. On the basis of the findings, a choroidal melanoma is retained. Assessment of tumor extension was negative for metastases. The patient was referred to a retinal oncologist.

Discussion: Hamartomas of the uveal tract may occur in patients with neurofibromatosis. These are mainly glial or melanocytic hamartomas. The possibility of an association between Neurofibromatosis type 1 (NF1) and uveal melanoma has been proposed on the basis of a common neural crest origin.

This case demonstrates the occurrence of malignant melanoma of the choroid in a patient with neurofibromatosis, and emphasizes the importance of considering this diagnosis when a choroidal mass is evident in such patients. Our case raises the question of the differential diagnosis of a fundus mass in a patient with neurofibromatosis. Entities to be considered include glial hamartoma of the retina, choroidal neurofibroma, choroidal nevus, and choroidal melanoma.

Conclusion: In all the major clinical forms of von Recklinghausen's disease, the association of NF1 and uveal melanoma is reported. Although choroidal melanoma in patient with NF1 is rare, ophthalmologists should think about it in front of any choroidal mass.