Article Date: 3/1/2011

Congenital Hypertrophy of the Retinal Pigment Epithelium
PHOTO ESSAY

Congenital Hypertrophy of the Retinal Pigment Epithelium

While the initial lesion appears stable at two years, eventually lacunae develop.

Hassan A. Aziz, MD • Audina M. Berrocal, MD

A 16-year-old young woman with a history of diabetes type 1 was referred to the Bascom Palmer Eye Institute for an ophthalmic evaluation. On her initial examination in 2003, her visual acuity was 20/20 in the right eye and 20/20 in the left eye with myopic correction. The fundus examination of the left eye revealed a flat area of hyper-pigmentation in the inferotemporal quadrant (Figure 1). The diagnosis of congenital hypertrophy of the retinal pigment epithelium (CHRPE) was made.

Figure 1. Fundus examination of the patient in 2003. Note the flat area of hyper-pigmentation in the inferotemporal quadrant.

CHRPE is a rare hyperpigmented lesion of the retina that can present as a solitary finding or as grouped lesions (bear track). When bilateral or in clusters, it may be associated with adenocarcinomas (Gardner syndrome and familial adenomatous polyposis). Despite its benign course, CHRPE shows gradual growth in 83% of cases, and lacunae develop in 43% of lesions.1 Adenocarcinomas have been reported to arise from CHRPE; thus, close follow-up is warranted.

In 2005, two years after this patient's presentation, the lesion appeared to be stable with no noted change (Figures 2 and 3). In 2008, the patient developed lacunae within the lesion (Figure 4). In 2009, slight growth of the lesion and the lacunae were detected (Figure 5). RP

Figures 2 and 3. Two years after the initial presentation, the lesion appears stable.

Figure 4. Five years after initial diagnosis, lacunae developed within the lesion.

Figure 5. One year later, slight growth of the lesion and lacunae were noted.

REFERENCES

1. Shields CL, Mashayekhi A, Ho T, Cater J, Shields JA. Solitary congenital hypertrophy of the retinal pigment epithelium: clinical features and frequency of enlargement in 330 patients. Ophthalmology. 2009;116:2213-2216. Epub 2009 Sep 10.
2. Shields JA, Eagle RC Jr, Shields CL, Brown GC, Lally SE. Malignant transformation of congenital hypertrophy of the retinal pigment epithelium. Ophthalmology. 2003;110:1968-1976.

Audina M. Berrocal, MD, is associate professor of clinical ophthalmology, with a secondary appointment in the Department of Pediatrics, at Bascom Palmer Eye Institute/University of Miami. Hassan A. Aziz, MD, is a resident in the retina service at Bascom Palmer. He can be reached at haaziz@med-miami.edu.
Special thanks to Ditte Hess, CRA, FOPS, for photographic assistance.


Retinal Physician, Issue: March 2011