[Combined hamartoma of the retina and retinal pigment epithelium. Four case studies]

Combined hamartoma of the retina and retinal pigment epithelium is a rare condition, characterized by a proliferation of the retinal pigmentary epithelium and retinal gliosis leading to a disorganization of the retina and papilla. This study aimed to demonstrate the advantages of early diagnosis and regular monitoring.

We report a series of four children followed between 2001 and 2004 with combined hamartoma of the retina and retinal pigment epithelium, with age of diagnosis ranging from 3 months to 8 years. The main reason for consultation was reduction of vision. The clinical examination objectified the existence of a slightly grayish peripapillary formation with tortuous retinal vessels. This condition was confirmed by angiography with fluorescein in three cases and by optical coherence tomography (OCT) in one case. Progression showed the persistence of low vision in all four cases and the appearance of a neovascular membrane in one case.

Combined hamartoma of the retina and retinal pigment epithelium is probably a congenital tumor whose pathogenesis has not yet been elucidated. The diagnosis is clinical and the patient can be thoroughly examined by retinal angiography and optical coherence tomography (OCT). In this disorder, it is important to eliminate retinoblastoma and malignant melanoma of the choroid, showing the advantage of radiological exploration. Progression is stationary; nevertheless a reduction in visual acuity can be related to an epiretinal membrane or a neovascular membrane.

Knowledge of the clinical aspect is essential to differentiate this condition from the malignant retinal processes. This tumor can progress in spite of its benign character. Regular follow-up is essential and can improve the visual prognosis.