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An Amelanotic Choroidal Lesion in a 68-Year-Old Man

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

A 68-year-old man with a history of keratoconus was referred for evaluation of a choroidal lesion in his left eye. He reported intermittent dull pain in his left eye for 1 month that improved with acetaminophen. His family history was significant for non-Hodgkin lymphoma (mother) and leukemia (mother and maternal grandfather). On examination, his best-corrected visual acuity was 20/25 OD and 20/200 OS, limited by keratoconus. Extraocular movements were full, there was no relative afferent pupillary defect, and intraocular pressures were 13 mm Hg OD and 11 mm Hg OS. There was no proptosis. Anterior segment examination demonstrated keratoconus with corneal scarring in both eyes and Descemet folds in the left eye. Both eyes had mixed cataract. There were no signs of anterior segment or vitreous inflammation. Ophthalmoscopic examination revealed an amelanotic area of choroidal thickening (confirmed by optical coherence tomography) overhanging the inferonasal margin of the optic disc with associated subretinal fluid and scattered areas of hyperpigmentation (Figure 1A). There was an additional, subtle amelanotic elevated lesion under the fovea. Fundus autofluorescence demonstrated hyperautofluorescence in a leopard-spotting pattern (Figure 1B). Indocyanine green angiography revealed hypocyanescent lesions inferonasal to the disc and at the fovea.

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Erdheim-Chester disease

C. Positron emission tomography scan

The differential diagnosis of multifocal, amelanotic choroidal lesions is broad and includes choroidal metastasis, amelanotic melanoma, lymphoma, and other hematologic processes. Fine-needle aspiration biopsy (choice A) would be warranted if systemic workup was unrevealing, but it is preferred to first perform systemic workup and also biopsy a site with less risk. Rituximab and radiotherapy (choice B) would not be indicated prior to definitive diagnosis but could be used to treat choroidal lymphoma. Plaque brachytherapy (choice D) would not be recommended because the multifocal nature of the lesion made choroidal melanoma unlikely. A positron emission tomography scan (choice C) was recommended to look for systemic disease, which showed fluorodeoxyglucose-avid soft tissue abnormalities along the bilateral neuroforamina, upper ribs, and paraspinal muscles. A biopsy was performed of a lumbar paraspinal mass (Figure 2), which revealed a histiocytic lesion with a MAP2K2 p.E202_I203 in-frame deletion consistent with Erdheim-Chester disease (ECD).

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Article Information

Corresponding Author: Lauren A. Dalvin, MD, Department of Ophthalmology, Mayo Clinic, 200 First St SW, Rochester, MN 55905 (dalvin.lauren@mayo.edu).

Published Online: December 15, 2022. doi:10.1001/jamaophthalmol.2022.5336

Conflict of Interest Disclosures: Dr Dalvin has received grants from the Leonard and Mary Lou Hoeft Career Development Award Fund in Ophthalmology Research, National Cancer Institute, and National Center for Advancing Translational Science Clinical and Translational Science Awards. No other disclosures were reported.

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

References
1.
Kanakis  M , Petrou  P , Lourida  G , Georgalas  I .  Erdheim-Chester disease: a comprehensive review from the ophthalmologic perspective.   Surv Ophthalmol. 2022;67(2):388-410. doi:10.1016/j.survophthal.2021.05.013PubMedGoogle ScholarCrossref
2.
Rech  KL , He  R .  Challenges in the histopathologic diagnosis of histiocytic neoplasms.   J Natl Compr Canc Netw. 2021;19(11):1305-1311. doi:10.6004/jnccn.2021.7098PubMedGoogle ScholarCrossref
3.
Emile  J-F , Abla  O , Fraitag  S ,  et al; Histiocyte Society.  Revised classification of istiocytosis and neoplasms of the macrophage-dendritic cell lineages.   Blood. 2016;127(22):2672-2681. doi:10.1182/blood-2016-01-690636PubMedGoogle ScholarCrossref
4.
Sivak-Callcott  JA , Rootman  J , Rasmussen  SL ,  et al.  Adult xanthogranulomatous disease of the orbit and ocular adnexa: new immunohistochemical findings and clinical review.   Br J Ophthalmol. 2006;90(5):602-608. doi:10.1136/bjo.2005.085894PubMedGoogle ScholarCrossref
5.
Costa  S , Julião  MJ , Silva  S , Brito  MJ .  Erdheim-Chester disease: a rare non-Langerhans histiocytosis.   BMJ Case Rep. 2021;14(9):e241143. doi:10.1136/bcr-2020-241143PubMedGoogle ScholarCrossref
6.
Huang  LC , Topping  KL , Gratzinger  D ,  et al.  Orbital and chorioretinal manifestations of Erdheim-Chester disease treated with vemurafenib.   Am J Ophthalmol Case Rep. 2018;11:158-163. doi:10.1016/j.ajoc.2018.07.005PubMedGoogle ScholarCrossref
7.
Pichi  F .  Choroidal mass as the first presentation of Erdheim-Chester disease.   Am J Ophthalmol Case Rep. 2019;16:100539. doi:10.1016/j.ajoc.2019.100539PubMedGoogle ScholarCrossref
8.
Tan  ACS , Yzer  S , Atebara  N ,  et al.  Three cases of Erdheim-Chester disease with intraocular manifestations: imaging and histopathology findings of a rare entity.   Am J Ophthalmol. 2017;176:141-147. doi:10.1016/j.ajo.2017.01.017PubMedGoogle ScholarCrossref
9.
Abdellatief  A , Mason  CM , Ytterberg  SR , Boorjian  SA , Salomão  DR , Pulido  J .  Choroidal involvement in Erdheim-Chester disease.   Ophthalmic Surg Lasers Imaging Retina. 2015;46(6):674-676. doi:10.3928/23258160-20150610-13PubMedGoogle ScholarCrossref
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Credit Designation Statement: The American Medical Association designates this Journal-based CME activity activity for a maximum of 1.00  AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to:

  • 1.00 Medical Knowledge MOC points in the American Board of Internal Medicine's (ABIM) Maintenance of Certification (MOC) program;;
  • 1.00 Self-Assessment points in the American Board of Otolaryngology – Head and Neck Surgery’s (ABOHNS) Continuing Certification program;
  • 1.00 MOC points in the American Board of Pediatrics’ (ABP) Maintenance of Certification (MOC) program;
  • 1.00 Lifelong Learning points in the American Board of Pathology’s (ABPath) Continuing Certification program; and
  • 1.00 CME points in the American Board of Surgery’s (ABS) Continuing Certification program

It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting MOC credit.

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