Clinical characteristics of suspected combined hamartoma of the retina and retinal pigment epithelium

Abstract

To analyze the clinical presentations, and explore the diagnosis, and differential diagnosis of combined hamartomas of the retina and retinal pigment epithelium (CHRRPE). A retrospective review of five patients with suspected CHRRPE presented to Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, from Nov 2001 to July 2008. The clinical presentations, fundus characteristics, fundus fluorescein angiography (FFA), optic coherence tomography (OCT), as well as B ultrasound scan examinations were analyzed. The five patients were all male, ranging in age from 6 to 18 years (mean 12 years). The lesion was unilateral; there were not any associated diseases. Presenting symptoms included painless decrease in vision, metamorphopsia, and discovery of strabismus. Initial visual acuity ranged from 20/333 to 20/50. Locations of the lesion included on optic disk and adjacent retina, and in the macular area. Clinical characteristics were slight elevation on optic disk or in retina, different degree of hyperpigmentation, retinal vascular tortuosity, as well as epiretinal membrane formation. In arterial phase of FFA, there was hypofluorescence of choroid background, retinal vascular was tortuous and telangiectatic, and there was leakage from vessels within the lesion in venous phase and late phase. OCT showed obscuration of the normal retinal layers, elevated lesion with high reflectivity of the inner retina, and hyporeflective shadowing of the underlying tissue. B ultrasound scan showed slightly elevated solid mass involving the disc or adjacent retina in some patients. CHRRPE may be confused with other masses of the retina and choroid. Diagnosis of CHRRPE mainly depends on fundus manifestations, FFA and OCT. B ultrasound scan is useful for differential diagnosis.