Combined hamartoma of the RPE and retina is a rare disorder that occurs most frequently near the optic nerve head margin, although it may also be seen in the peripheral fundus. Typically, the hamartoma appears as a pigmented, slightly elevated lesion with vitreoretinal traction and tortuous retinal vessels (Fig 17-14C, D; see also Chapter 11, Fig 11-51). Glial cells within this lesion may contract, producing traction lines clinically visible in the retina. Exudative complications associated with the vascular component of the lesion may develop. These lesions have been mistaken for melanomas because of their pigmentation, slight elevation, and propensity to change in young individuals.
Kálmán Z, Tóth J. Two cases of congenital simple hamartoma of the retinal pigment epithelium. Retin Cases Brief Rep. 2009;3(3):283–285.
Shields CL, Thangappan A, Hartzell K, Valente P, Pirondini C, Shields JA. Combined hamartoma of the retina and retinal pigment epithelium in 77 consecutive patients: visual outcome based on macular versus extramacular tumor location. Ophthalmology. 2008;115(12):2246–2252.e3.
Excerpted from BCSC 2020-2021 series: Section 4 - Ophthalmic Pathology and Intraocular Tumors. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.