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 […]

Von Hippel-Lindau (VHL) disease is an autossomical, dominant inherited tumour syndrom. These tumours may include haemangioblastoma in the retina and central nervous system (CNS), renal cell carcinoma, phaeochromocytoma, islet cell tumours of the pancreas, cystadenoma in the kidney, pancreas, and epididymis. The most common symptoms include: loss of vision, raised intracranial pressure, neurological deficits, paroxysmal raised blood pressure and local pain. We report herein a 29-year-old man with visual loss and cerebellar haemangioblastoma that despite neurological manifestations the diagnosis of […]