[Diagnosis and differential diagnosis of the combined hamartoma of the retina and retinal pigment epithelium].

BACKGROUND

The combined hamartoma of the retina and the retinal pigment epithelium (CHR-RPE) is an important differential diagnosis of retinal and choroidal diseases with variable degrees of pigmentation.

PATIENTS: The clinical picture and typical fluorescence angiography findings of two adult patients who were first diagnosed to have a combined hamartoma of the retina and retinal pigment epithelium are presented. The referral diagnosis macular pucker and malignant melanoma of the choroid, respectively, are discussed regarding severe therapeutic interventions such as pars plana vitrectomy with membrane peeling (macular pucker), and radiotherapy, or enucleation (malignant melanoma of the choroid) as well as other important differentials.

RESULTS

The combined hamartoma of the retina and the retinal pigment epithelium is a benign congenital, mostly unilateral retinal lesion. The presenting symptom is a painless, unilateral, often silent loss of vision. Histologically, three cell populations can be identified: glial, vascular, and pigmented cells. Variations in composition of these three cell types are responsible for the heterogeneous clinical picture and thus diagnostic challenges. The greyish retinal tumor located peripapillary in most cases with varying degrees of pigmentation and surrounding vascular tortuosity can result in secondary changes at the vitreoretinal interface with deterioration of vision. Combined fluorescein-/indocyaningreen angiography and ultrasound are crucial for diagnostic evaluation. Documentation and regular clinical follow-up examinations are essential for successful management of this disorder.

CONCLUSION

Recognition of this rare clinical entity is crucial for administering the appropriate therapy.