Photopsia revealing a retinocytoma

Description

A 28-year-old healthy man presented to our ophthalmology emergency department with a 6-month history of photopsia of his right eye. He had a best corrected distance visual acuity of 1.0 in his right eye and 1.2 in his left eye. Anterior segment examination at the slit lamp was unremarkable. On fundoscopy, the posterior pole in his right eye was unremarkable (figure 1), but a white voluminous subretinal lesion surrounded by an area of pigment epithelium atrophy and hypertrophy was observed on the inferior quadrants. Its appearance was very similar to type 1 (calcified remnant) retinoblastoma regression (figure 2). Ocular ultrasound revealed a mass with high reflectivity with an apical height of 4 mm and 6 mm at its largest basal dimension. CT scan confirmed the calcified nature of the tumour (figure 3). Presumptive diagnosis of retinocytoma was established. Revision of the literature showed that although retinocytoma does not require treatment, surveillance is crucial since there is an estimated malignant transformation in 4–12% of patients.^{1 2} Furthermore, it carries the same genetic implications as that of a retinoblastoma.^{1 2} In light of these findings, the patient was subject to genetic testing and siblings were subject to ophthalmological examination.

Figure 1.

Unremarkable posterior pole retinography of the right eye.

Figure 2.

Inferior periphery retinography revealing a large, white subretinal mass associated with atrophy of the pigment epithelium.

Figure 3.

Cranial CT scan showing intraocular calcification.

Learning points.

• Retinocytoma is a benign lesion with risk of malignant transformation.

• Retinocytoma carries the same genetic implications as that of a retinoblastoma.