Selected Pigmented Fundus Lesions of Children

Background: Ocular cells that accumulate melanin pigment are derived from 1 of 2 sources, the optic vesicle or the neural crest. Migration and distribution of pigment containing cells may go awry during fetal development or these cells may be altered before or after birth either by local or systemic stimuli. Specific recognition patterns of pigment distribution often exist and may relate directly to a single disease process. Methods: Records of pediatric patients with disorders of pigment distribution in the ocular fundi who had been examined by the author were reviewed. Results: Five disorders with recognizable patterns of retinal pigment epithelium (optic vesicle derivation) disturbance (congenital hypertrophy of the retinal pigment epithelium, Gardner syndrome, chronic granulomatous disease, preserved para-arteriole retinal pigment epithelium in (autosomal-recessive) retinitis pigmentosa, and combined hamartoma of the retina and retinal pigment epithelium), and 5 disorders of cells originating from the neural crest (choroidal nevi, choroidal melanoma, melanocytoma, ocular melanosis, and oculodermal melanosis), were selected for illustration and discussion. Conclusions: These arbitrarily selected groups of disorders affect or involve patterns of pigment deposition in the ocular fundus. These patterns are recognizable and distinguishable one from another but have different implications for treatment and follow-up. Progress in recognizing distinguishing characteristics, diagnostic implications, understanding, and treatment of these disorders during the past 40 years is compared and contrasted between the 2 groups.