[Congenital Simple Hamartoma of the Retinal Pigment Epithelium]

Congenital simple hamartoma of the retinal pigment epithelium (CSHRPE) is an uncommon benign lesion with characteristic clinical features. Ophthalmoscopically it appears as a small localized, well circumscribed, pigmented tumor in the foveal region. In contrast to the more common flat congenital hypertrophy of the RPE the CSHRPE has an elevated nodular appearance.

Retrospective case series of three patients with CSHRPE. Clinical morphological features using different imaging techniques are presented.

A typical dark lesion was incidentally noted in the macula of two patients. Optical coherence tomography (OCT) demonstrated a nodular preretinal hyperreflectivity with shadowing of deeper structures. In one patient the CSHRPE was hypofluorescent throughout the angiogram. The third patient presented with a reduced visual acuity of 0.3. A characteristic lesion was found at the foveal center. OCT revealed a hyperreflective preretinal lesion with associated moderate disruption of the foveal architecture. Amblyopia treatment slightly improved visual acuity in this case. The lesions remained stationary in two patients (follow-up 8 - 14 months).

CSHRPE are usually detected as an incidental finding. Given its benign character and typically asymptomatic presentation an observational treatment approach is generally recommended. The lesions generally remain stationary and are not known to grow. In cases with visual impairment due to foveal involvement amblyopia treatment should be initiated.