Choroidal and Retinal Pigment Epithelial Lesions

A pigmented fundus lesion in a child is usually benign. Flat choroidal nevi are common and are not a cause for concern. Malignant melanoma of the choroid is extremely rare in children. Choroidal osteoma is a benign bony tumor of the uveal tract that may occur in childhood, usually presenting with decreased vision. Diffuse hemangioma of the choroid associated with Sturge-Weber syndrome is discussed in Chapter 28. Patients with neurofibromatosis type 1 often have flat, tan-colored spots in the choroid (see Chapter 28).

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is a sharply demarcated, flat, hyperpigmented lesion that may be isolated or multifocal (Fig 25-22). Such lesions are sometimes grouped, in which case they are also called bear tracks.

Pigmented lesions similar to CHRPE have been associated with Gardner syndrome, an autosomal dominant condition caused by a mutation in the APC gene, located at 5q22.2. Patients with Gardner syndrome have many polyps of the colon, which carry a very high risk for malignant transformation. Affected individuals often require a colectomy in early adulthood to prevent cancer. They may also have skeletal hamartomas and various other soft-tissue tumors. The pigmented retinal lesions associated with Gardner syndrome are different from CHRPE in that they are typically multiple, bilateral, and dispersed; in addition, they often have a surrounding halo and tail of depigmentation that is oriented radially and directed toward the optic nerve (Fig 25-23).

Figure 25-22 Congenital hypertrophy of the RPE (CHRPE). Examples of varying clinical appearances. A, Small lesion. B, Medium-sized lesion; note the homogeneous black color and well-defined margins of this nummular lesion. C, Color fundus photograph of a large lesion. D, Corresponding fluorescein angiogram of the large lesion. Note the loss of RPE architecture and highlighted choroidal vasculature.

(Parts A, C, and D courtesy of Timothy G. Murray, MD.)

Figure 25-23 Gardner Syndrome. A, Ultra-wide-angle fundus photograph shows multiple pigmented retinal lesions with areas of depigmentation oriented radially to the optic nerve. B, FAF reveals areas of hypo- and hyperautofluorescence within pigmented lesions. C, Retinal lesion with a “fish-tail” configuration.

(Parts A and B courtesy of Cara E. Capitena, MD; part C courtesy of Robert W. Hered, MD.)

Combined hamartoma of the retina and RPE is an ill-defined, elevated, variably pigmented tumor that may be juxtapapillary or located in the retinal periphery. The tumor is often minimally elevated; retinal traction and tortuous retinal vessels are often present. In peripheral tumors, dragging of the retinal vessels is a prominent feature. The tumors have a variable composition of glial tissue and RPE. This condition can be associated with neurofibromatosis (type 1 or 2), incontinentia pigmenti, X-linked retinoschisis, and facial hemangiomas. Bilateral lesions in a child should raise suspicion for neurofibromatosis type 2.

• Traboulsi EI. Ocular manifestations of familial adenomatous polyposis (Gardner syndrome). Ophthalmol Clin North Am. 2005;18(1):163–166.

Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.