Medulloepithelioma of the ciliary body: the delay in diagnosis and frequent initial mismanagement

Abstract

Objective: Medulloepithelioma is a rare intraocular embryonal neuroepithelial tumour. The study aims at identifying the causes for the delay in diagnosis and treatment.

Design: A retrospective study of all cases with histopathologic diagnosis of medulloepithelioma over a period of 25 years.

Participants: Six patients with intraocular tumour in 6 eyes.

Methods: A data collection sheet is used for clinical and radiologic information based on charts review. The histologic sections are reviewed by a single pathologist.

Results: All cases presented initially in childhood with equal sex distribution. There was a delay of up to 5 years until final diagnosis and management. The most common clinical findings were high intraocular pressure and/or cataract in 4 cases, visible mass/uveitis/iris neovascularization and buphthalmos each presenting in 50% of the patients. The diagnosis was established clinically in 2 cased and by ultrasound in 4 cases. The tumour was mostly malignant (4/6) and 2 cases were classified as teratoid (1 benign and 1 malignant). All patients were successfully treated by enucleation with a follow-up period up to 18 years.

Conclusions: Medulloepithelioma is a rare intraocular tumour often misdiagnosed and treated as glaucoma or uveitis. Ultrasonography is a useful additional tool for diagnosis. Enucleation seems to be an appropriate method of treatment specially when diagnosis is delayed and malignancy is suspected. Ophthalmologists need to be more familiar with this tumour to allow early clinical recognition and diagnosis.