Retinoblastoma in a young adult mimicking Coats' disease

Abstract

Retinoblastoma is the most common childhood primary intraocular malignancy, with the majority of cases being diagnosed before 5 years of age. Retinoblastoma in adults is extremely rare. Here, we report the case of a 20-year-old man who presented with a 3 year history of blurred vision in the right eye. Imaging did not reveal the typical presentation of retinoblastoma. After considering Coats' disease, a diagnosis of late-presenting retinoblastoma was made through cytological analysis. Diagnosis of retinoblastoma should be considered in the presence of uncertain mass lesions in the fundus of an adult.

Keywords: Coats'disease; adult; cytological analysis; retinoblastoma.

Figure 1. Ultrasonographic examination of the right eye showing a moderately reflective material occupying the nasal peripheral retina that was suggestive of a mass with a collection of fluid beneath the retina, a highly reflective lesion can be seen in the mass. The left eye was sound.

Figure 2. Computed tomography (CT) showing the mass involving the nasal retina with a minimal higher density and without calcification in the right eye.

Figure 3. A: Axial T1-weighted MR image showing the mass involving the ciliary body, which had slightly higher signal intensity; B: Axial T2-weighted MR image showing the mass had a relatively low-intensity signal; C: The contrast-enhanced MR image showing there was diffuse enhancement of the mass.

Figure 4. Cytological analysis of the anterior chamber puncture fluid showing neoplastic cells forming loosely cohesive clusters. Note the scant cytoplasm, the high nuclear to cytoplasmic ratio (staining by hematoxylin-eosin; original magnification, ×400).

Figure 5. A: The tumor was present in the anterior segment and implanted into the iris and ciliary body with neovascularization on the anterior surface of the iris (staining by hematoxylin-eosin; original magnification, ×40). B: The tumor was found to have invaded the optic nerve head without any extension to the lamina cribrosa and optic nerve (staining by hematoxylin-eosin; original magnification, ×40). C: The presence of a classical Homer-Wright rosette pattern (staining by hematoxylin-eosin; original magnification, ×100).