Eye tumors in children represent a complex group of disorders, with varied origins, presentations, and prognosis.

These tumors may arise within the eye (intraocular) or around it (orbital and periocular), characterized by benign or malignant pathology.

Understanding Pediatric Eye Tumors

Eye tumors in children involve diverse tissue types and pathologies. Intraocular tumors include retinoblastoma, the most common malignant childhood eye tumor, as well as benign lesions such as choristomas and cystic masses. Periocular tumors affect eyelid and orbital tissues and encompass sarcomas, lymphomas, and vascular malformations.

Retinoblastoma: The Most Common Malignant Tumor

Retinoblastoma arises from immature retinal cells and predominantly affects children under five years. It manifests with leukocoria (a white pupillary reflex noticeable in photographs), strabismus, eye redness, or swelling. Delayed diagnosis increases risk of vision loss and spread beyond the eye.

Genetic mutations in the RB1 gene contribute to both hereditary and sporadic forms. Early intervention with chemotherapy, localized treatments, or enucleation (eye removal) has significantly improved survival rates over recent decades.

Benign Tumors and Choristomas

Choristomas are developmental lesions where normal tissue appears in abnormal locations, such as epibulbar choristomas on the ocular surface. Typically presenting as yellow-white masses at birth, they may interfere with vision if obstructing the visual axis or inducing astigmatism.

Though usually asymptomatic, surgical excision is considered when visual development is at risk. Other benign tumors, including conjunctival dermoids and papillomas, often require surgical excision if persistent or symptomatic but generally do not threaten vision or life.

Orbital and Eyelid Tumors

Orbital tumors in children range from benign vascular anomalies like hemangiomas and lymphangiomas to malignant sarcomas such as rhabdomyosarcoma. These masses may present as painless swelling, proptosis (eye bulging), or mechanical eye movement restriction.

Eyelid tumors, while often benign and related to gland blockages or viral infections (e.g., chalazion or molluscum contagiosum), occasionally manifest as malignancies needing aggressive management.

Diagnostic Modalities and Importance of Multimodal Imaging

Early and accurate diagnosis hinges on comprehensive ophthalmic examination supplemented by imaging studies. Ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI) define tumor size, extension, and internal characteristics essential for guiding management decisions.

Biopsy remains critical for histopathological confirmation in cases where malignancy or atypical presentation is suspected. Additionally, genetic testing, such as RB1 mutation analysis in retinoblastoma, informs prognosis and family counseling.

Treatment Landscape

Therapeutic strategies for pediatric eye tumors depend on tumor type, location, size, and metastatic risk. Options include:

- Surgical excision or enucleation for accessible or life-threatening tumors

- Chemotherapy regimens targeting systemic and intraocular disease control

- Radiation therapy focused on localized tumor eradication while sparing healthy tissues

- Laser therapy and cryotherapy to ablate smaller or superficial lesions

- Emerging treatments leveraging targeted molecular approaches and immunotherapy are in investigational stages for select malignancies

Dr. Diana V. Do, MD, a renowned retina specialist, states "A complete exam with pupil dilation allows us to see the retina, the crucial light-sensitive tissue at the back of the eye. This is critical for diagnosing sight-threatening diseases that have no early warning signs."

Pediatric eye tumors encompass a spectrum from benign developmental abnormalities to aggressive cancers. Retinoblastoma remains the most critical malignant tumor requiring urgent attention. However, a broad differential diagnosis, including benign choristomas, vascular anomalies, and sarcomas, must be considered.

Comprehensive diagnostic evaluation combining clinical, imaging, and genetic data underpins effective management. Advancements in treatment have markedly improved prognosis, yet vigilant surveillance and multidisciplinary care remain indispensable.