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Pigmented Macular Lesion in a Child

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

A 5-year-old boy with a history of an Escherichia coli infection complicated by hemolytic uremic syndrome presented with a visual acuity of 20/125 OD and 20/20 OS (HOTV letters). He had no history of hearing loss or pigmented skin lesions. He had no past ocular history or prior ophthalmic examinations. Color vision was severely diminished in the right eye, as determined by Ishihara color plates, and he had no detectable stereoacuity, as determined by Titmus testing. Intraocular pressure and extraocular movements were normal. He had a mild relative afferent pupillary defect in the right eye but no strabismus or nystagmus. The cycloplegic refraction was +2.50 + 0.50 × 100 OD and +2.00 sphere OS. Results of an anterior segment slitlamp biomicroscopy examination showed no abnormalities. Results of a dilated retinal examination showed a large, elevated, homogenous, gray mass in the macula of the right eye with temporal pallor of the optic disc (Figure, A). Optical coherence tomography demonstrated gliosis with a tractional epiretinal membrane and modest disorganization of the retinal layers, producing a sawtooth configuration within the outer plexiform layer (Figure, B).

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Combined hamartoma of the retina and retinal pigment epithelium

B. Order magnetic resonance imaging of the brain and a medical genetics evaluation

Based on the clinical examination and optical coherence tomography findings, the patient was diagnosed as having a combined hamartoma of the retina and retinal pigment epithelium, a benign, congenital lesion characterized histologically by abnormal development of glia, retinal vasculature, and pigment epithelial cells. Combined hamartomas are most commonly seen without any syndromic associations; however, neurofibromatosis type 2 (NF2) is most commonly reported among its associated syndromes.1 Therefore, affected patients should be screened for central nervous system abnormalities with magnetic resonance imaging and referred to medical genetics (choice B). Young patients will often not meet diagnostic criteria for NF2, but they can be monitored prospectively if a combined hamartoma is identified or other clinical suspicion is raised. Genetic screening for NF2 is available; however, this can be negative in 25% to 30% of founder cases owing to somatic mosaicism.2

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Article Information

Corresponding Author: Kevin D. Chodnicki, MD, Department of Ophthalmology, Mayo Clinic, 200 First St SW, Rochester, MN 55905 (chodnicki.kevin@mayo.edu).

Published Online: July 3, 2019. doi:10.1001/jamaophthalmol.2019.1659

Conflict of Interest Disclosures: None reported.

Additional Contributions: We thank the patient’s parent for granting permission to publish this information.

References
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2.
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Theobald  GD, Floyd  G, Kirk  HQ.  Hyperplasia of the retinal pigment epithelium simulating a neoplasm: report of two cases.  Am J Ophthalmol. 1958;45(4 pt 2):235-240. doi:10.1016/0002-9394(58)90248-4PubMedGoogle ScholarCrossref
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Vogel  MH, Zimmerman  LE, Gass  JD.  Proliferation of the juxtapapillary retinal pigment epithelium simulating malignant melanoma.  Doc Ophthalmol. 1969;26:461-481. doi:10.1007/BF00944004PubMedGoogle ScholarCrossref
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Olsen  TW, Frayer  WC, Myers  FL, Davis  MD, Albert  DM.  Idiopathic reactive hyperplasia of the retinal pigment epithelium.  Arch Ophthalmol. 1999;117(1):50-54. doi:10.1001/archopht.117.1.50PubMedGoogle ScholarCrossref
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