An 18-month-old African-American boy with 1-month history of left upper eyelid swelling and mild conjunctival injection was noted to have an iris lesion in the left eye (OS). On examination, visual acuity was fix-and-follow in both eyes (OU). Intraocular pressures were normal OU. On anterior segment examination OS, the anterior chamber was deep, and there was no keratic precipitate, hyphema, posterior synechia, or ectropion uveae. There was, however, diffuse 360° infiltration on the surface of the iris most notably between 8 and 12 o’clock [Fig. 1a].
What is your next step?
- Perform anterior chamber tap and injection of antibiotics
- Provide intra-arterial chemotherapy
- Obtain ancillary imaging and perform fine-needle aspiration biopsy (FNAB)
- Observe and follow up in 3 months
Fluorescein angiography (FA) identified multifocal pinpoint areas of iris neovascularization in the region of the iris mass [Fig. 1b]. Ultrasound biomicroscopy confirmed diffuse infiltration on the surface of the iris (arrows) and documented absence of ciliary body or posterior segment involvement [Fig. 1c]. Anterior-segment optical coherence tomography (AS-OCT) depicted epi-iridic debris in a distinctive “stalagmite-like” configuration (arrows) at the site of the mass and diffuse angle involvement [Fig. 1d]. FNAB revealed atypical spindle cell proliferation that stained positive for CD68 (histiocyte marker) and negative for GFAP (astrocytic marker) and HMB-45 and Melan A (melanocyte markers). These findings were compatible with juvenile xanthogranuloma (JXG).
Diagnosis: JXG OS
Correct answer: C
Juvenile xanthogranuloma is the most common non-Langerhans cell histiocytosis and is often self-limiting. Ocular disease is estimated in 0.35% of cases with the iris being the most commonly affected tissue. Other sites of JXG include conjunctiva (19%), eyelid (6%), choroid (6%), and orbit (3%). In the eye, JXG can appear nodular or diffuse, as in our case. Both forms pose a risk for iritis, hyphema, and secondary glaucoma. Manjandavida et al. were the first to recognize the distinctive “stalagmite-like” epi-iridic configuration of diffuse JXG on AS-OCT and they surmised that this feature was nearly pathognomonic for this condition, not seen with iris malignancies such as iris melanoma or diffuse anterior retinoblastoma. Others have since confirmed this AS-OCT feature in additional cases. Management of iris JXG involves aggressive topical corticosteroids on an every 2 h basis or even periocular depot corticosteroids until resolution is documented, then a slow taper of topical corticosteroids over 3–4 months to prevent recurrence.
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