Ciliary Body Schwannoma: A Case Report and Literature Review.

Purpose: To present a case of intraocular schwannoma arising from the ciliary body with description of histological and immunophenotypic characteristics. Case Report: A 32-year-old woman who was followed for glaucoma of the left eye and chronic renal failure at the stage of hemodialysis presented with buphthalmos and two weeks of blurry vision of the left eye. A magnetic resonance imaging exam was performed suspecting melanoma. Enucleation was rapidly performed. The histological examination after HE (Hematoxylin and Eiosin) and HEA50 (Hematoxylin and polychromatic solution EA 50) staining showed proliferation of mesenchymal monomorphic fusiform cells with eosinophilic cytoplasm and small oval nuclei which showed a tendency toward palisading. Some parts of the tumor were hypercellular with a fascicular arrangement (Antoni A pattern); other parts were weakly cellular with a myxoid arrangement (Antoni B pattern). Several Verocay bodies and a lot of hemorrhagic suffusions were described. Mitotic figures were very rare. Immunohistochemistry staining showed that tumor cells were positive for PS100 and vimentin. Conclusion: Although ciliary body schwannoma is extremely rare, it should be considered in the differential diagnosis of intraocular tumors.

Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome.

Tyrosinemia type II, also designated as oculocutaneous tyrosinemia or Richner-Hanhart syndrome (RHS), is a very rare autosomal recessive disorder. In the present study, we report clinical features and molecular genetic investigation of the tyrosine aminotransferase (TAT) gene in two young patients, both born to consanguineous unions between first-degree cousins. These two unrelated families originated from Northern and Southern Tunisia. The clinical diagnosis was based on the observation of several complications related to Richner-Hanhart syndrome: recurrent eye redness, tearing and burning pain, photophobia, bilateral pseudodendritic keratitis, an erythematous and painful focal palmo-plantar hyperkeratosis and a mild delay of mental development. The diagnosis was confirmed by biochemical analysis. Sequencing of the TAT gene revealed the presence of a previously reported missense mutation (c.452G>A, p.Cys151Tyr) in a Tunisian family, and a novel G duplication (c.869dupG, p.Trp291Leufs 6). Early diagnosis of RHS and protein-restricted diet are crucial to reduce the risk and the severity of long-term complications of hypertyrosinemia such as intellectual disability.