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Young man presents with gradual unilateral decrease in visual acuity
An inferior peripapillary elevated gray lesion with associated epiretinal membrane, intrinsic retinal vascular tortuosity and retinal folds was found.
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A 25-year-old physician was referred to the New England Eye Center for evaluation of a retinal lesion in his right eye. He noticed for approximately 1 year a gradual decrease in vision in the right eye and distinctly noticed distortion when driving. He denied having headaches, flashes, floaters or visual changes in the other eye. He reported no recent illnesses or history of trauma. His family history was significant for diabetes and glaucoma. Of note, he was currently in his first year of a medical residency in Puerto Rico.
Examination
The patient’s best corrected visual acuity was 20/50+2 in the right eye with no improvement on pinhole and 20/50+3 in the left eye with improvement to 20/30 on pinhole. With potential acuity meter testing, his visual acuity was 20/30 eccentrically in the right eye and 20/25 in the left eye. The pupillary examination showed no evidence of an afferent pupillary defect or anisocoria in light or dark. His extraocular movements and IOPs were within normal limits. On slit lamp biomicroscopy, the anterior segments were normal with no evidence of inflammation, but posterior segment examination of the right eye revealed an inferior peripapillary elevated gray lesion with associated epiretinal membrane, intrinsic retinal vascular tortuosity and retinal folds extending through the macula (Figure 1). The left eye posterior segment examination was normal.
Fluorescein angiography of the right eye revealed early hypofluorescence due to blockage by the hyperpigmentation of the lesion and late hyperfluorescence in a filigree pattern, along with extensive retinal vascular leakage (Figure 2). Optical coherence tomography of the lesion and macula demonstrated extensive macular thickening, epiretinal membrane, retinal folds and cystoid macular edema (Figure 3).
The referring ophthalmologist had previously obtained a CBC, metabolic panel, VDRL, toxocariasis titer and MRI of the brain, which were all unremarkable.
Figure 1. Funduscopic examination revealed inferior peripapillary elevated gray lesion with associated epiretinal membrane, intrinsic retinal vascular tortuosity and retinal folds extending through the macula of the right eye.
Images: Sodhi AK, Duker JS
Figure 2. Fluorescein angiography of the right eye revealed early hypofluorescence due to blockage by the hyperpigmentation of the lesion and late hyperfluorescence that was consistent with the extensive retinal vascular leakage.
Figure 3. Extensive macular thickening, epiretinal membrane, retinal folds and cystoid macular edema.
What is your diagnosis?
Decrease in vision
The diagnosis of combined hamartoma of the retina and retinal pigment epithelium can be made clinically based on funduscopic appearance and fluorescein angiography.
Classically, lesions have retinal pigment epithelium (RPE) hyperpigmentation, retinal vascular tortuosity, retinal folds and glial proliferation with a fluorescein pattern featuring early hypofluorescence due to blockage from RPE hyperpigmentation and late stippled or filigree hyperfluorescence along with retinal vascular leakage.
A differential diagnosis of a juxtapapillary lesion includes choroidal melanoma, capillary hemangioma of the retina, toxocariasis, astrocytoma, sarcoid granuloma, and RPE adenoma or adenocarcinoma. Unilateral retinal pigment dysgenesis is rare, but the appearance can be similar to combined hamartoma. The distinguishing feature of unilateral RPE dysgenesis is the characteristic scalloped atrophic border of the lesion with scattered islands of RPE hyperplasia. In children, the differential should also include retinoblastoma and persistent hyperplastic primary vitreous.
Discussion
In 1973, Gass first described the clinical features of a combined hamartoma of the retina and RPE (CHRRPE) in a case series of seven eyes. It is a rare lesion that is typically a unilateral solitary benign proliferation of the retina, RPE, retinal vessels and vitreous. The average age of diagnosis ranges from younger than 1 month to 15 years. Because it is frequently diagnosed in childhood or infancy, it suggests a congenital etiology. There have been a few case reports of CHRRPE as acquired lesions following papilledema, prolonged exudative retinal detachment or trauma, but these are rare. There are reported associations with neurofibromatosis, with type 1 more common than type 2, so it is important to screen these patients with a thorough review of systems and family history.
In 2008, Shields et al reviewed 79 eyes of 77 patients and found presenting symptoms of decreased vision in 32 cases (40%), strabismus in 22 cases (28%), decreased vision and strabismus in three cases (4%), and irritation in four cases (5%); 18 cases (23%) were asymptomatic. Decreased visual acuity can be a result of a combination of factors, including amblyopia, lesion at the optic nerve or macula, or traction of the macula due to an epiretinal membrane. Clinically, CHRRPE is slightly elevated (80%) with grayish to greenish pigmentation (87%). As mentioned earlier, these lesions contain RPE hyperpigmentation, retinal vascular tortuosity, retinal folds and glial proliferation. Most lesions are often located juxtapapillary (76%), but may be macular (17%) or peripheral (7%). Typically there is a contraction on the inner surface of the lesion that displaces surrounding retina and creates an epiretinal membrane. Over time, progressive visual acuity loss or worsening distortion can occur due to the epiretinal membrane traction.
Combined hamartomas of the retina and RPE are usually observed with or without amblyopia treatment. In 1984, Schachat et al reviewed 60 patients and reported that, with observation at 4 years, 66% of patients had stable visual acuity within two lines of the original visual acuity and 24% of patients had visual acuity loss of two or more lines. Furthermore, three out of four patients who had amblyopia therapy improved by two or more lines. In 2008, Shields et al noted that location of the lesion also was important. They reported that at 4 years there was visual acuity loss of approximately three or more Snellen lines in 60% of macular lesions and 13% of extramacular lesions.
Reports of surgical management with pars plana vitrectomy with membrane peeling yield variable visual acuity outcomes. Because a portion of the membrane is intrinsic to the retina, peeling could potentially damage the nerve fiber layer or even deeper retinal structures. However, secondary posterior hyaloid proliferation with true epiretinal membrane formation can ensue in certain eyes as well. Some studies report visual acuity improvement postoperatively. A study by Cohn et al reported that for pediatric patients between the ages of 1 and 14 years who underwent pars plana vitrectomy with membrane peeling with or without autologous plasmin enzyme, postoperative visual acuity improvement occurred in eight of 11 eyes. Three eyes had stabilization of vision, four eyes had recurrences of epiretinal membrane, and three eyes required additional surgery. The authors concluded that, in the pediatric population, improved retinal architecture could lead to improved visual acuity. Other studies do not support surgical management. In a small case review by McDonald et al, two patients, age 44 years and 26 years, had no improvement with surgery. Due to the variable results reported in the literature, surgical management still remains a subject of debate.
Because misdiagnosis has led patients to undergo extensive laboratory testing and imaging and prompted enucleation in some cases, it is important to recognize the key clinical features of CHRRPE. Even though these lesions do not typically grow and malignant transformation has never been reported, it is important to follow these patients because the retinal contraction from the lesion can lead to choroidal neovascularization, epiretinal membrane formation and rarely vitreous hemorrhage.
Follow-up
After discussing the options of surgery vs. conservative management with the patient, we decided to observe him on a yearly basis.