Iris Mass in a 14-Month-Old Boy | Ophthalmology | JN Learning | AMA Ed Hub [Skip to Content]
[Skip to Content Landing]

Iris Mass in a 14-Month-Old Boy

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

A 14-month-old boy presented with a sudden-onset, rapidly enlarging lesion in the right eye detected by his parents 2 weeks earlier. The patient had normal tracking bilaterally. Under anesthesia, findings from an examination of the right eye revealed an inferonasal translucent gray-white iris mass with numerous intralesional lacy cystic structures (Figure 1). There was no microphthalmia, cataract, lens subluxation, anterior or posterior synechiae, glaucoma, or uveitis. Findings from a fundus examination were normal. High-resolution anterior segment echography results revealed an iridociliary mass that extended posteriorly to the pars plicata with overall dimensions of 7.7 × 6.0 × 1.9 mm. There were no associated calcifications, retrolental membranes, or seeding.

Please finish quiz first before checking answer.

You answered correctly!

Read the answer below and download your certificate.

You answered incorrectly.

Read the discussion below and retake the quiz.

Iridociliary medulloepithelioma

C. Perform plaque brachytherapy

The differential diagnosis of an amelanotic iris mass in a young child includes retinoblastoma, medulloepithelioma, juvenile xanthogranuloma, leukemia, and metastatic cancer. In this patient, the absence of intralesional calcifications or retinal tumors would be atypical for retinoblastoma. The absence of characteristic skin lesions and a yellowish-orange, vascularized iris mass is unusual for juvenile xanthogranuloma. Leukemia and metastatic cancer are unlikely in an otherwise healthy young child. The translucent tumor with intralesional cystic structures is characteristic of medulloepithelioma.

Medulloepithelioma is a rare tumor that was first described in 1892 and has also been referred to as carcinoma primitif, terato-neuroma, and diktyoma.1,2 Although retinoblastoma and medulloepithelioma both arise from primitive neuroepithelium derived from the inner layer of the optic cup,3 their clinical features are distinct. Retinoblastomas are white vascularized retinal tumors that usually arise before 2 years of age. They frequently contain intratumoral calcifications and are multifocal and bilateral in patients with germline RB1 (OMIM 180200) variants.4 In contrast, medulloepitheliomas arise from the nonpigmented ciliary epithelium and most commonly present as a grayish-white translucent mass involving the ciliary body and/or iris.1 Characteristic features of medulloepithelioma include multiple intralesional cysts and a neoplastic retrolenticular membrane. Because of the ciliary body origin and slow growth of medulloepithelioma, diagnosis is often delayed until an older age (median age of 5 years) than in retinoblastoma.5 Presenting symptoms and signs include decreased vision, ocular pain, cataract, and glaucoma. Ultrasound biomicroscopy may help identify a retroiridal ciliary body tumor.

Survey Complete!

Sign in to take quiz and track your certificates

Buy This Activity

JN Learning™ is the home for CME and MOC from the JAMA Network. Search by specialty or US state and earn AMA PRA Category 1 CME Credit™ from articles, audio, Clinical Challenges and more. Learn more about CME/MOC

Article Information

Corresponding Author: J. William Harbour, MD, Bascom Palmer Eye Institute, University of Miami School of Medicine, 900 NW 17th Ave, Miami, FL 33136 (harbour@miami.edu).

Published Online: May 20, 2021. doi:10.1001/jamaophthalmol.2020.5301

Conflict of Interest Disclosures: Dr Ashkenazy reported receiving fees from Alimera Sciences outside the submitted work. Dr Walter reported receiving fees from Castle Biosciences, Genentech, Spark Therapeutics, Novartis, and Allergan outside the submitted work. Dr Harbour reported receiving an honorarium for consulting from Castle Biosciences outside the submitted work.

Additional Contributions: We thank the patient’s family for granting permission to publish this information.

References
1.
Saunders  T , Margo  CE .  Intraocular medulloepithelioma.   Arch Pathol Lab Med. 2012;136(2):212-216. doi:10.5858/arpa.2010-0669-RS PubMedGoogle ScholarCrossref
2.
Canning  CR , McCartney  AC , Hungerford  J .  Medulloepithelioma (diktyoma).   Br J Ophthalmol. 1988;72(10):764-767. doi:10.1136/bjo.72.10.764 PubMedGoogle ScholarCrossref
3.
Jakobiec  FA , Trief  D , Rashid  A ,  et al.  New insights into the development of infantile intraocular medulloepithelioma.   Am J Ophthalmol. 2014;158(6):1275-1296.e1. doi:10.1016/j.ajo.2014.08.036 PubMedGoogle ScholarCrossref
4.
Fabian  ID , Onadim  Z , Karaa  E ,  et al.  The management of retinoblastoma.   Oncogene. 2018;37(12):1551-1560. doi:10.1038/s41388-017-0050-x PubMedGoogle ScholarCrossref
5.
Priest  JR , Williams  GM , Manera  R ,  et al.  Ciliary body medulloepithelioma: four cases associated with pleuropulmonary blastoma—a report from the International Pleuropulmonary Blastoma Registry.   Br J Ophthalmol. 2011;95(7):1001-1005. doi:10.1136/bjo.2010.189779 PubMedGoogle ScholarCrossref
6.
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 PubMedGoogle ScholarCrossref
If you are not a JN Learning subscriber, you can either:
Subscribe to JN Learning for one year
Buy this activity
jn-learning_Modal_Multimedia_LoginSubscribe_Purchase
Close
If you are not a JN Learning subscriber, you can either:
Subscribe to JN Learning for one year
Buy this activity
jn-learning_Modal_Multimedia_LoginSubscribe_Purchase
Close
With a personal account, you can:
  • Access free activities and track your credits
  • Personalize content alerts
  • Customize your interests
  • Fully personalize your learning experience
Education Center Collection Sign In Modal Right
Close

Name Your Search

Save Search
Close
With a personal account, you can:
  • Track your credits
  • Personalize content alerts
  • Customize your interests
  • Fully personalize your learning experience
jn-learning_Modal_SaveSearch_NoAccess_Purchase
Close

Lookup An Activity

or

Close

My Saved Searches

You currently have no searches saved.

Close
With a personal account, you can:
  • Access free activities and track your credits
  • Personalize content alerts
  • Customize your interests
  • Fully personalize your learning experience
Education Center Collection Sign In Modal Right
Close