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Acquired Tumors Arising from Congenital Hypertrophy of the Retinal Pigment Epithelium

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Acquired Tumors Arising from Congenital Hypertrophy of the Retinal Pigment Epithelium CLINICAL SCIENCES Acquired Tumors Arising From Congenital Hypertrophy of the Retinal Pigment Epithelium Jerry A. Shields, MD; Carol L. Shields, MD; Arun D. Singh, MD Background: Congenital hypertrophy of the retinal lacunae in all 5 patients. The CHRPE ranged in basal di- pigment epithelium (CHRPE) is widely recognized to ameter from 333mmto13311 mm. The size of the el- be a flat, stationary condition. Although it can show evated lesion ranged from 23232mmto83834 mm. minimal increase in diameter, it has not been known to The nodular component in all cases was supplied and spawn nodular tumor that is evident ophthalmoscopi- drained by slightly prominent, nontortuous retinal blood cally. vessels. Yellow retinal exudation occurred adjacent to the nodule in all 5 patients and 1 patient developed a second- Objectives: To report 5 cases of CHRPE that gave rise ary retinal detachment. Two tumors that showed progres- to an elevated lesion and to describe the clinical features sive enlargement, increasing exudation, and progressive of these unusual nodules. visual loss were treated with iodine 125–labeled plaque brachytherapy, resulting in deceased tumor size but no im- Methods: Retrospective medical record review. provement in the visual acuity. Results: Of 5 patients with a nodular lesion arising from Conclusions: Congenital hypertrophy of the retinal pig- CHRPE, there were 4 women and 1 man, 4 whites and 1 ment epithelium can spawn a nodular growth that slowly black. Three patients were followed up for typical CHRPE enlarges, attains a retinal blood supply, and causes exuda- for longer than 10 years before the tumor developed; 2 pa- tiveretinopathyandchroniccystoidmacularedema.Although tients were recognized to have CHRPE and the elevated no histopathologic evidence is yet available, we believe that tumor concurrently. Visual acuity was decreased in 3 pa- the tumor probably represents either an acquired adenoma tients, mainly due to cystoid macular edema. The tumor or a reactive proliferation of the retinal pigment epithelium. was located between the equator and ora serrata in all 5 The best treatment of these lesions is not yet established. patients. There was no predilection for quadrant of the fun- dus. The flat part of the lesion was black and had visible Arch Ophthalmol. 2000;118:637-641 ONGENITAL hypertrophy evated lesion developed from solitary of the retinal pigment epi- CHRPE. thelium (CHRPE) is a well-known fundus con- REPORT OF CASES dition that generally ap- pearsC as an asymptomatic flat lesion at the CASE 1 level of the retinal pigment epithelium (RPE).1-5 It can occur as a solitary lesion A 24-year-old white woman was found on or as multifocal lesions known as congen- routine ophthalmic examination in 1970 ital grouped pigmentation or “bear to have a flat, sharply demarcated, pig- tracks.”1,2 In contrast with the similar bi- mented lesion at the temporal equator of lateral, multiple, irregular lesions that are the right eye, consistent with CHRPE. The associated with familial adenomatous pol- lesion was stable until October 1988 when yposis and Gardner syndrome, the typi- a nodule was noted arising from the flat cal solitary and multifocal forms of CHRPE lesion. On ophthalmic examination then, are not associated with those diseases.6 the oval CHRPE measured about 634mm Both the solitary and the multifocal forms in basal dimensions and had typical de- are generally believed to be stationary le- pigmented lacunae and a marginal light sions. There have been reports of in- halo. In its center was a round nodule that crease in diameter of solitary CHRPE, but measured 13131mm(Figure 1). Our 7-10 From the Oncology Service, the change is usually minimal. To our diagnosis was solitary CHRPE with pos- Wills Eye Hospital, Thomas knowledge, CHRPE has not been docu- sible adenoma of the RPE. By November Jefferson University, mented to spawn an elevated intraocular 1998, the CHRPE was stable in basal di- Philadelphia, Pa. nodule. We report 5 cases in which an el- mensions, but the nodule was larger, mea- ARCH OPHTHALMOL / VOL 118, MAY 2000 WWW.ARCHOPHTHALMOL.COM 637 ©2000 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/24/2021 PATIENTS AND METHODS We performed a review of all patients seen by the Ocu- lar Oncology Service, Wills Eye Hospital, Philadel- phia, Pa, who had been coded as having CHRPE and who developed a solid, elevated nodule that arose from the flat component of the lesion. All patients pro- vided informed consent for inclusion in this study. We determined the age, race, sex, visual acuity, lo- cation and color of the lesion, associated macular changes, size of the CHRPE, size of the associated nodular tumor, presence of retinal feeder blood ves- sels and exudation, and follow-up data. Figure 1. Case 1. Oval congenital hypertrophy of the retinal pigment epithelium, measuring 6 34 mm in basal dimensions, with typical depigmented lacunae and a marginal light halo. A distinct, round nodular suring 23232 mm at ultrasonography. The patient con- tumor has developed in an area that was previously flat. tinues to have yearly ophthalmic examinations. CASE 2 A 54-year-old black woman was found in April 1995 to have a pigmented lesion at the equator superonasally in the left eye measuring 534 mm in diameter. Most of the lesion was flat with a well-defined border, depigmented lacunae, and marginal light halo, compatible with CHRPE. Arising from the anterior edge of the flat component of the lesion was a black nodule that measured 232mm in basal dimensions and 2 mm in thickness. Minimally dilated retinal blood vessels appeared to feed and drain the nodule and circinate exudation was present around the base of the nodule (Figure 2). By April 1998, the flat component of the lesion was unchanged, but the el- evated nodule had enlarged slightly and there was more Figure 2. Case 2. Pigmented lesion located at the equator superonasally in yellow intraretinal exudation. the left eye, measuring 5 34 mm. There is a posterior component compatible with congenital hypertrophy of the retinal pigment and an CASE 3 anterior round nodule with retinal feeder and drainer vessels. The black nodule is surrounded by yellow intraretinal exudation. In 1984, a 47-year-old white woman was found to have a pigmented equatorial lesion inferonasally, consistent with Near the equator inferonasally was a black mass with a well- CHRPE. In 1988, a black nodule, measuring 23232mm defined flat portion measuring 636 mm and a dome- was noted on the anterior margin of the flat lesion shaped portion that measured 33333 mm arising from (Figure 3, A). The nodule had retinal feeding and drain- the anterior margin of the flat lesion (Figure 4). Our di- ing blood vessels, yellow intraretinal exudation, and over- agnosis was presumed adenoma of the RPE arising from lying vitreous inflammatory cells and erythrocytes along CHRPE. Because the cystoid macular edema and visual loss its anterior border. By June 1991, the elevated lesion were most likely secondary to the tumor, the patient was measured 63534 mm (Figure 3, B). B-scan ultrasonog- treated with 125I-plaque brachytherapy. In August 1995, raphy showed an elevated lesion with acoustic solidity, visual acuity was light perception in the right eye and se- no choroidal excavation, and a secondary retinal detach- vere cystoid macular edema was still present. ment (Figure 3, C). Because of tumor enlargement, exu- dation, retinal detachment, and hemorrhage, the patient CASE 5 was treated with 125I-plaque brachytherapy in July 1992. In May 1997, her visual acuity was 3/400 OS and tumor A 63-year-old white woman with a history of branch reti- thickness had decreased to 1.9 mm at ultrasonography. nal vein obstruction in the right eye was found in January The cystoid macular edema and exudation persisted. 1997 to have a 13311-mm, well-defined CHRPE lesion in the superior equatorial region of the same eye, with an CASE 4 83834-mm light brown mass arising from its anterior aspect (Figure 5). The foveal area showed mottling of A 42-year-old white man was found in October 1994 to the RPE, mild preretinal vitreous fibrosis, and slight cys- have finger counting vision and a tumor in his right eye. toid macular edema. The nodule was supplied by mini- ARCH OPHTHALMOL / VOL 118, MAY 2000 WWW.ARCHOPHTHALMOL.COM 638 ©2000 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/24/2021 Figure 4. Case 4. Pigmented lesion located near the equator inferonasally, showing a well-defined flat component posteriorly with depigmented lacunae and a dome-shaped nodule overriding the anterior margin of the lesion. The subtle exudation seen clinically around the black nodule is not apparent in the photograph. Figure 5. Case 5. Flesh-colored, light brown nodule arising from typical congenital hypertrophy of the retinal pigment epithelium. There is slight retinal exudation around the base of the nodule. elevated tumor was 50 years (age range, 42-63 years). Two of the patients (cases 1 and 3) had been recognized to have typical flat solitary CHRPE before the elevated nodule (4 Figure 3. Case 3. A, Lesion as seen in 1988 showing typical congenital and 18 years, respectively). The other 3 patients (cases 2, hypertrophy of the retinal pigment epithelium. On the anterior border of the 4, and 5) had simultaneous diagnosis of the flat CHRPE flat lesion is a distinct black nodule with adjacent accumulation of yellow intraretinal exudation and overlying vitreous inflammatory cells and and the elevated lesion. The right eye was affected in 3 pa- erythrocytes. B, Appearance of lesion in June 1991, showing enlargement of tients and the left eye in 2 patients. The meridional loca- the lesion, increased exudation, and more overlying vitreous haze.
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