Case Report October 21, 2026 October 21, 2026

Acute visual loss in children: combined retinal and retinal pigment epithelium hamartoma as a surprising diagnosis

DOI: 10.37039/1982.8551.20260098

ABSTRACT

The objective of this report was to describe an atypical presentation of combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) with acute visual loss in a pediatric patient. A child underwent complete ophthalmologic evaluation, multimodal retinal imaging (fundus examination, optical coherence tomography, and ocular ultrasonography), and neurological and hematological investigation to exclude differential diagnoses. A previously asymptomatic patient developed sudden unilateral visual loss associated with peripapillary retinal elevation. After excluding neoplastic and systemic infiltrative diseases, clinical and imaging findings were consistent with CHRRPE. During four years of follow-up, the lesion remained structurally stable, with no tumor progression or secondary complications. CHRRPE may present atypically in childhood, mimicking severe intraocular or optic nerve diseases. Awareness of this entity is essential in the differential diagnosis of pediatric retinal masses.