Medulloepitheliomas are the second most common primary intraocular neoplasm in the first decade of life. They may present as an iris mass or cyst, with glaucoma, cataract, or leukocoria.1 They are classified as either teratoid or nonteratoid and either benign or malignant based on histopathology. The definitive treatment is enucleation, although for small tumors, plaque radiotherapy2 or local resection3 are options. These treatments are limited by reports of recurrence.4 Metastasis of a medulloepithelioma is rare but often fatal.
An 8-year-old girl was referred to the emergency department for a 2-week history of acute, painless vision loss in the right eye.
Ocular examination revealed hand motion visual acuity in the right eye and 20/20 in the left eye. Intraocular pressures were normal in both eyes. Though there was no relative afferent pupillary defect, the pupils were asymmetric, with poor reactivity to light and leukocoria in the right eye. Anterior segment examination was notable for a superotemporal opacity on the anterior lens capsule, a clear crystalline lens, and a retrolenticular fibrovascular membrane with cysts. This membrane extended from the temporal aspect of the lens to obstruct the visual axis, precluding examination of the posterior pole (Figure 1). Bedside ultrasound did not reveal a more posterior mass, a fibrovascular stalk, or a retinal or choroidal detachment.
Retcam photograph of the anterior segment in the right eye demonstrated superotemporal opacity on the anterior lens capsule, clear crystalline lens, and a retrolenticular fibrovascular membrane with cysts extending from the temporal aspect of the lens and occluding the visual axis.
During an exam under anesthesia, echography and optical coherence tomography demonstrated a hyperechoic fibrovascular mass with cysts originating from the ciliary body. This mass extended anteriorly to envelop the lateral aspect of the lens capsule and posteriorly to the temporal equator (Figures 2A and 2B). Fluorescein angiography demonstrated early filling with mid-phase staining of the retrolenticular membrane (Figure 3).
Echography (A) and optic coherence tomography (B) demonstrated a hyperechoic fibrovascular mass with cysts originating from the ciliary body, extending anteriorly to envelop the lateral aspect of the anterior and posterior lens capsule, as well as posteriorly to the temporal equator.
Fluorescein angiography demonstrated early filling with mid-phase staining of the fibrovascular membrane.
A diagnosis of intraocular medulloepithelioma was made based on the clinical and multimodal imaging characteristics. The patient was referred to the Ocular Oncology service for further management. A baseline computed tomography of the chest was performed to rule out pleuropulmonary blastoma, and magnetic resonance imaging of the brain and orbit were performed to exclude local invasion and metastasis. A repeat examination under anesthesia was performed 1 month later to confirm the earlier findings. After extensive discussion with the patient and her family, the right eye was enucleated. Pathologic examination of the specimen enabled a histologic diagnosis: medulloepithelioma, non-teratoid, morphologically benign.
In this case, characteristic clinical findings and multimodal imaging led to the diagnosis of medulloepithelioma. Verhoeff first described this entity in 19045 and named it a terato-neuroma. Zimmerman later proposed a classification system for ciliary epithelium tumors and standardized the term medulloepithelioma.6,7
Patients frequently present with decreased vision (41%) or pain (30%). Although this case presented with leukocoria (18%), more classic signs of medulloepithelioma are iris masses or cysts (56%), secondary glaucoma (48%), or cataract (26%).1 A series of 10 patients with medulloepithelioma reported a high prevalence of lens-notching or coloboma (90%), lens subluxation (70%), cataract (60%), and retrolental neoplastic cyclitic membrane (60%).4
Medulloepitheliomas are classified as teratoid or nonteratoid based on the presence of cartilage, glial tissue, or muscle on histopathology. They are further subdivided into benign or malignant tumors. Malignant features include poorly differentiated neuroblastic cells with or without rosettes, areas resembling chondrosarcoma, rhabdomyosarcoma, or embryonal sarcoma, high pleomorphism or mitotic activity, or invasion of the uvea, cornea, or sclera.1
The definitive treatment for medulloepitheliomas is enucleation. For small tumors, plaque radiotherapy2 and local resection3 are options, but high recurrence rates limit the efficacy of these approaches. In one case series, all patients who underwent primary local resection developed recurrence.4 Metastasis of medulloepithelioma is rare, but typically occurs when there is local invasion and is often fatal.8,9 Reports describe successfully treating local metastatic invasion with aggressive surgical resection, external beam radiotherapy, or salvage chemotherapy. However, limited long-term data preclude drawing meaningful conclusions.10,11
In our patient, histopathology revealed basophilic cells in ribbons, cords, and cysts overlying the pars plana and extending along the posterior aspect of the lens to the contralateral ciliary body and pars plicata (Figure 4). The eosinophilic material within the cystic structures stained positively for mucopolysaccharide (Figure 5). There were no teratoid or malignant features, refining the diagnosis to medulloepithelioma, non-teratoid, morphologically benign.
Gross imaging (A) and hematoxylin and eosin (B) of an enucleated specimen demonstrating cystic tumor emanating from the ciliary body with retrolental invasion.
Histopathology revealed a tumor composed of basophilic cells in ribbons, cords, and cysts overlying the pars plana with extension along the posterior aspect of the crystalline lens to the contralateral ciliary body and pars plicata. Cystic structures stained positively for mucopolysaccharides on Alcian blue staining.
- Broughton WL, Zimmerman LE. A clinicopathologic study of 56 cases of intraocular medulloepitheliomas. Am J Ophthalmol. 1978;85(3):407–418. doi:10.1016/S0002-9394(14)77739-6 [CrossRef]
- Cassoux N, Charlotte F, Sastre X, Orbach D, Lehoang P, Desjardins L. Conservative surgical treatment of medulloepithelioma of the ciliary body. Arch Ophthalmol. 2010;128(3):380–381. doi:10.1001/archophthalmol.2009.404 [CrossRef]
- Canning CR, McCartney AC, Hungerford J. Medulloepithelioma (diktyoma). Br J Ophthalmol. 1988;72(10):764–767. doi:10.1136/bjo.72.10.764 [CrossRef]
- Shields JA, Eagle RC Jr., Shields CL, Potter PD. Congenital neoplasms of the nonpigmented epithelium (medulloepithelioma). Ophthalmology. 1996;103(12):1998–2006. doi:10.1016/S0161-6420(96)30394-1 [CrossRef]
- Verhoeff FH. A rare tumor arising from the pars ciliaris retinae (terato-neuroma), of a nature hitherto unrecognized, and its relation to the so-called glioma retinae. Trans Am Ophthalmol Soc. 1904;10(Pt 2):351–377.
- Zimmerman LE. The Norman McAlister Gregg Lecture: The remarkable polymorphism of tumours of the ciliary epithelium. Trans Aust Coll Ophthalmol. 1970;2(1):114–125.
- Zimmerman LE: Verhoeff's “terato-neuroma”: A critical reappraisal in light of new observations and current concepts of embryonic tumors. Trans Am Ophthalmol Soc. 1971;69(2):210–236.
- Saunders T, Margo CE. Intraocular meduloepithelioma. Arch Pathol Lab Med. 2012;136(2):212–216. doi:10.5858/arpa.2010-0669-RS [CrossRef]
- Kaliki S, Shields CL, Eagle RC, et al. Ciliary body medulloepithelioma: Analysis of 41 cases. Ophthalmology. 2013;120(12):2552–2559. doi:10.1016/j.ophtha.2013.05.015 [CrossRef]
- Ho YF, Tsai YJ, Wu SY. Malignant ciliary body medulloepithelioma with brain and parotid metastasis. J Pediatr Ophthalmol Strabismus. 2017;54:e18–e22.
- Pushker N, Bajaj MS, Singh A, Lokdarshi G, Bakhshi S, Kashyap S. Intra-ocular medulloepithelioma as a masquerade for PHPV and panophthalmitis: A diagnostic dilemma. Saudi J Ophthalmol. 2017;31(2):109–111. doi:10.1016/j.sjopt.2017.02.004 [CrossRef]