M Borri

A case of coloboma in a newborn to a woman taking mycophenolate mofetil in pregnancy after kidney transplantation.

Recently, mycophenolate mofetil (MMF) has been introduced in the immunosuppressive strategy after kidney transplantation. Recently, the existence of a MMF associated embriopathy has been hypothesized, namely, multiple craniofacial malformations. Only 1 report has described chorioretinal coloboma. We report a case of woman who used MMF throughout pregnancy after kidney transplantation. Her newborn developed coloboma of the right eye associated with an ocular cyst without any other malformation. The other drugs used by our patient are not considered teratogenic. Therefore, it seems reasonable to conclude a causal relationship between MMF and the malformation observed in this newborn.

A 6-year-old boy with Cornelia de Lange syndrome and Coats disease: case report and review of the literature.

Cornelia de Lange syndrome (CdLS) can result in multiple congenital abnormalities and numerous ocular findings. We report the case of a 6-year-old boy with history of CdLS who presented with Coats disease. The findings in this case are compared to those found in the two previously reported cases of concomitant CdLS and Coats disease. The low incidence of these two disorders makes it highly unlikely that the connection is random in these 3 cases. The number of patients with both Cornelia de Lange syndrome and Coats disease is likely underestimated due to the difficulty in examining the peripheral retina in this patient population.

Direct intraarterial (ophthalmic artery) chemotherapy for advanced intraocular retinoblastoma: Five years experience

Purpose To report five years of conservative treatment for advanced retinoblastoma with the direct intra-arterial-ophthalmic artery infusion of Melphalan alone or Melphalan and Topotecan. Methods 75 children (82 eyes) with advanced retinoblastoma (Stage D-E/VA –VB) were entered in phase two of one center open study-approved protocol of ophthalmic artery infusion (Italian intra-arterial protocol, approved by the Ethic Commettee – University Hospital of Siena). Seven cases have been treated bilaterally. 40 eyes were first diagnosis (naive) and 42 were relapses following chemotherapy and focal therapy and/or radiotherapy. Results Cannulation of the ophthalmic artery was performed by a femoral artery approach using microcatheters (magic 1.5) while the children were under general anesthesia and anticoagulated. Chemotherapy (Melphalan alone or Melphalan and Topotecan) was infused into the artery over a 30-minute period (dose of 3-7 mg of Melphalan and 0.3-0.4 mg of Topotecan, according to the age and size of the globe). Local and systemic toxicity have been evaluated and documented. Conclusion 75 children (82 eyes) with advanced retinoblastoma were eligible for the intra-arterial Italian Protocol. The 65.8% of all treated eyes is in complete remission. Superselective chemotherapy delivered through the ophthalmic artery can avoid enucleation, primary radiation or abuse of systemic chemotherapy.

Giant orbital retinoblastoma: a case report

Purpose The authors report a case of giant orbital Retinoblastoma following primary enucleation for intraocular tumor. The presence of worms was documented inside the necrotic tumoral mass.

069 Bis Chimiothérapie directe intra-artérielle (artère ophtalmique) avec du malphalan dans le traiement conservateur du rétinoblastome intra-oculaire

Objective To avoid enucleation cannulating repeatedly the ophthalmic artery of young children with advanced retinoblastoma and giving melphalan that is tumoricidal for retinoblastoma when given intraarterially. Materials 8 children with advanced retinoblastoma (Reese-Ellsworth stage V) eyes who were indicated for enucleation were entered in phase two of one center open study-approved protocol of ophthalmic artery infusion of melphalan to avoid enucleation. Methods cannulation of the ophthalmic artery was performed by a femoral artery approach using microcatheters while the children were under anesthesia and anti-coagulated. Chemotherapy (melphalan) was infused into the artery over a 30-minute period. Main outcome measures: ophthalmic examinations, retinal photography, and electroretinograms were used to document local toxicity, whereas physical examinations and complete blood counts were used to measure systemic toxicity. Results the ophthalmic arteries were successfully cannulated in 6 cases (total, 11 times). Dramatic regression of relapses was obtained into 4 cases, and of vitreous and subretinal seeds was observed in two cases. No severe systemic side effects (sepsis, anemia, neutropenia, fever, or death) occurred. No transfusions were required (red cells or platelets). Three patients developed lid rush that resolved without treatment in two days. There was no toxicity to the cornea, anterior segment, pupil, or motility. Conclusions we are experimenting a technique of direct ophthalmic artery infusion of melphalan for children with retinoblastoma. The technique has minimal systemic side effects and local toxicity. Therapeutic results in these 6 cases treated with this technique are reported and discussed.