Ciliary body medulloepithelioma

• Poor vision
• Pain
• Strabismus: this refers to misalignment of the eyes
• Leukocoria: this refers to an abnormal white reflection from the retina of the eye which can be seen by a doctor during an exam or can sometimes be seen in photographs
• Clinical examination of the eye may show a cyst or mass in the iris, anterior chamber, or ciliary body, or glaucoma or cataract

When there is concern for the development of CBME, imaging including ultrasound biomicroscopy (UBM), MRI and/or CT can evaluate the location of the tumor and determine if classical heterogeneous cystic features are present. Staging includes brain MRI to evaluate for direct intracranial extension and metastatic disease.

Treatment for CBME is individualized depending on several factors including tumor size. Please contact the Registry for additional information.

Individuals and families should be counseled regarding potential symptoms of strabismus, visual acuity changes, or leukocoria. For individuals with germline pathogenic DICER1 variation, we recommend annual routine dilated ophthalmologic exam (generally unsedated) with visual acuity screening from 3 years of age through at least 10 years of age. No imaging studies are indicated in asymptomatic individuals, but care providers should be aware of the risk, albeit low, for ophthalmologic DICER1-associated conditions and the need for fundoscopic and imaging evaluations if clinically indicated.

For a complete copy of surveillance guidelines for individuals with DICER1 variation, please contact the Registry.

In children, a tumor of the ciliary body suggests CBME. An anteriorly located retinoblastoma, ciliary body cyst, or leiomyoma and xanthogranuloma of the ciliary body should also be considered in the differential diagnosis. An anteriorly located retinoblastoma is more common in older children and is frequently calcified. In adults, the clinical differential diagnosis of a mass in the ciliary body includes adenoma or adenocarcinoma of the ciliary epithelium (pigments or non-pigmented), mesoectodermal leiomyoma, neurilemmoma, metastatic carcinoma, and granuloma.

Ciliary body medulloepitheliomas may be malignant although distant metastasis and mortality are rare. Mortality from CBME usually arises from intracranial spread rather than from systemic metastases.