Features
Hamartomas are benign, focal malformations that resemble neoplasms from the tissue of its origin. They can develop throughout the body in many organs such as the skin, brain, eye, kidney, and heart. Symptoms vary widely depending on the location and size of the growths. In the retina, they can take multiple forms: astrocytic hamartoma, solitary congenital hypertrophy of the retinal pigment epithelium (CHRPE), multifocal or grouped CHRPE, and combined hamartoma of the retina and retinal pigment epithelium (RPE).
98.1.1 Common Symptoms
Astrocytic Hamartoma
Typically asymptomatic.
CHRPE
Typically asymptomatic.
Multifocal/Grouped CHRPE
Typically asymptomatic.
Congenital Hamartoma of the Retina and RPE
Variable vision loss, metamorphopsia, or strabismus depending on severity.
98.1.2 Exam Findings
Astrocytic Hamartoma
Flat to minimally elevated, semitranslucent to white, lesion(s) arising from the retinal nerve fiber layer (▶ Fig. 98.1a). These are often subtle, and may be single or multiple. Some have glistening, yellow, nodular calcification (“mulberry” appearance).
Fig. 98.1 Typical retinal astrocytic hamartoma associated with tuberous sclerosis complex. (a) Fundus photo demonstrating white retinal lesion. (b) Optical coherence tomography (OCT) demonstrating internal “moth-eaten” optically empty spaces primarily associated with the inner retina.
CHRPE
Darkly pigmented (or depigmented), flat, round lesions at the level of the RPE with sharply demarcated, smooth, or scalloped borders (▶ Fig. 98.2). Some have a surrounding hyperpigmented or hypopigmented halo. The overlying retina and retinal vessels are normal. CHRPE frequently demonstrate central, “punched-out” lacunae.
Fig. 98.2 Large peripheral solitary congenital hypertrophy of the retinal pigment epithelium (CHRPE). Ultra-widefield fundus photograph demonstrating temporal CHRPE with scalloped borders and lacunae.
Multifocal/Grouped CHRPE
These appear as multiple, circumscribed, flat areas of deep retinal pigmentation arranged in clusters. Lesions are characteristically localized within a sector of the fundus (usually unilateral) with smaller areas surrounding larger ones, giving rise to a “bear track” appearance (▶ Fig. 98.3a). Occasionally, lesions may be amelanotic and are termed “polar bear tracks.” In contrast to solitary CHRPE, lacunae are generally absent.
Fig. 98.3 (a) Grouped congenital hypertrophy of the retinal pigment epithelium or “bear tracks” with circular pigmentation without halos. (b,c) In contrast, pigmented ocular fundus lesions in patient with a known history of familial adenomatous polyposis demonstrate fewer lesions with an ovoid shape and surrounding halo.
Congenital Hamartoma of the Retina and RPE
Lesions are most commonly unilateral and are frequently juxtapapillary and involving the macula. Epiretinal membrane formation is common. These hamartomas tend to have ill-defined borders, gray to black hyperpigmentation, and tortuosity of the large retinal vessels surrounding the optic nerve; this finding may be accentuated by contraction of fibroglial tissue (▶ Fig. 98.4a, ▶ Fig. 98.5a). When peripheral in location, dragging of the retinal vessels is common. Prominent capillary network formation and choroidal neovascularization can result in exudation.
Fig. 98.4 (a) Fundus photograph of a combined hamartoma of the retina and RPE. (b,c) Optical coherence tomography through the central focus of the hamartoma demonstrates a thick preretinal membrane with deeper retinal involvement and apparent fold.
(Courtesy of Emmanuel Y. Chang, MD, PhD, FACS, Retina and Vitreous of Texas, Houston, TX.)
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