THE RECOGNITION OF CAVITARY RETINOBLASTOMA TUMORS: Implications for Management and Genetic Analysis.

PURPOSE: To assess the role of consolidating adjuvant therapy for cavitary retinoblastoma and to understand if there is any phenotype-genotype correlation. METHODS: Patients with retinoblastomas having ophthalmoscopically visible cavities between 2004 and 2014 in whom 4 to 6 cycles of systemic chemotherapy were given. RESULTS: Eighteen eyes of 17 patients displayed cavitary retinoblastomas. This represented 6.8% of 250 patients. Mean age at diagnosis was 13 months; 5 unilateral (29%) and 12 bilateral (71%). The mean (median, range) number of retinoblastoma tumors per eye was 2 (2; 1-6). The number of cavities per tumor was 3 (2, 1-6). Intratumoral cavities were seen in the superficial portion of the tumor in 10 eyes (55%). The cavities became visible in eight eyes (44%) and collapsed in eight eyes (44%). Two eyes required enucleation because of relapse in noncavitary tumors. Germline mutations were detected in 14 patients (82%) of whom four demonstrated mosaicism (29%); only one had a low penetrant mutation. The mean follow-up period was 40 (35, 6-120) months. CONCLUSION: Cavitary retinoblastomas can be detected after systemic chemotherapy with cavities becoming visible after mean two cycles of chemotherapy (secondary cavitary retinoblastoma). The etiology is uncertain. They remain stable and do not require aggressive adjuvant therapy. There was no evident phenotype-genotype correlation with mosaicism noted in 29%.

Strategies for the Management of Congenital Iris Cysts.

Iris cysts can arise from iris pigment epithelium or stroma. We present 3 cases of iris cysts which have been managed in different ways. In a one-month neonate, cyst was punctured with keratome and gentle diode laser endophotocoagulation was applied to the base. A2.5-month infant presented with watering and blepharospasm since birth. Clear fluid was aspirated from the cyst with a 27-gauge needle and Ethanol 96% (ETOH) was injected into the cyst and then aspirated. It was followed by injection/aspiration of 0.3 ml of balanced salt solution thrice. Cyst wall was excised. A13-month toddler presented with 4-month history of intermittent irritation and photophobia. The cyst was aspirated with a 25-gauge needle and the cyst walls were nibbled with 20-gauge vitrectomy cutter. Excision is better than injection of sclerosing solutions. The aim is to remove the whole cyst to avoid recurrence and to prevent amblyopia.