Paediatric Neoplastic Uveitis Masquerade Syndromes

Abstract

Paediatric neoplastic uveitis masquerade syndrome (UMS) is a rare but serious condition in which intraocular malignancies mimic inflammatory uveitis. Children may present with symptoms of intraocular inflammation such as redness, pain, light sensitivity, and blurred vision. The diagnostic challenge is compounded by the difficulty of examining younger patients and the absence of systemic warning signs. Accurate diagnosis is essential because the therapies for uveitis and ocular neoplasms vary fundamentally, and delayed recognition can be life-threatening. Although the most frequent neoplastic masquerades are acute leukaemia and retinoblastoma (RB), medulloepithelioma and metastatic tumours may also occur. Acute lymphoblastic leukaemia, the most common childhood malignancy, can manifest as anterior pseudohypopyon, iris infiltration or neovascularization, or posterior segment findings, including haemorrhages, Roth spots, and serous retinal detachment. Ocular involvement may indicate relapse. RB, the most common primary intraocular cancer in children, usually presents with leukocoria or strabismus. However, its diffuse infiltrating variant can masquerade as intraocular inflammation with pseudohypopyon, iris neovascularization, vitreous seeds, and vitreous haemorrhage. Unlike classic RB, this variant often lacks a discrete calcified mass, further complicating the diagnosis, which frequently results in misdiagnosis of uveitis. Multimodal ophthalmic imaging, including enhanced depth optical coherence tomography, fluorescein angiography, and ultrasonography, may aid in the diagnosis. Computed tomography or magnetic resonance imaging, combined with a comprehensive history and laboratory evaluation, can help distinguish neoplastic masquerades from inflammatory diseases. Early recognition, prompt referral to an oncology or ocular oncology department, and multidisciplinary care are critical because a timely diagnosis can preserve both vision and life.