[Congenital malformation of the pigment epithelium and retina]

A case of congenital malformation of the retina and of the pigment epithelium is reported, the lesion presenting as a slightly elevated greenish-blue lesion in the macular area or retinal periphery. The outer portion was hyperpigmented, the nonpigmented inner portion consisting of malformed thickened retina. Marked vascular tortuosity resulted from disturbance of the retinal layers and the presence of preretinal membrane. The lesion was detected in a boy with strabismus, loss of visual acuity and hyperopia, and is often misdiagnosed as tumor.