Relentless placoid chorioretinitis: A review of four cases in pediatric and young adult patients with a discussion of therapeutic strategies

Abstract

Introduction: Relentless placoid chorioretinitis (RPC) is a rare, bilateral disease of the retinal pigment epithelium. The clinical course is prolonged and relapsing. No standard treatment has been established to date. The purpose of this case series is to report four cases of RPC in pediatric and young adult patients in which varying treatments were used, comparing them to previously published cases.

Methods: A literature review was conducted to investigate currently published presentations and treatment options for RPC. A multicenter retrospective chart review was also performed on four consecutive patients. These patients were diagnosed with RPC because of new chorioretinitis lesions continuing to appear without or despite therapy for 5-36 months (2 patients), with a clinical course prolonged and relapsing, or because of the atypical location of the multiple lesions (>50) extending from the posterior pole to the equator and mid-peripheral retina (all four patients), which were not consistent with other entities like acute posterior multifocal placoid pigment epitheliopathy and serpiginous choroiditis.

Results: All four cases of RPC received oral or IV steroids acutely, and three of these patients were transitioned to a steroid-sparing agent and biologic therapy: anti-TNF alpha or anti-IL-6. Quiescence of the chorioretinitis lesions was obtained after 7 months, 1 month, and 36 months; however, the latter had issues with treatment adherence. Mycophenolate mofetil was insufficient to control the disease in one patient, but tocilizumab and infliximab thereafter were effective after cessation of adalimumab due to side effects. Adalimumab when started the first month after the presentation was effective in controlling the disease in one patient. After the failure of interferon-alpha-2a, one patient displayed long-term control with infliximab. One patient did not require a steroid-sparing agent after oral prednisone taper as there was no evidence of progression or recurrence.

Conclusion: This case series adds to the current knowledge regarding potential treatments for RPC, specifically the use of anti-TNF-alpha treatment and anti-IL-6 tocilizumab. In this case study, relapses of RPC were found among patients on mycophenolate mofetil and interferon-alpha-2a, and one case did not relapse on oral steroids without a steroid-sparing agent. Our findings suggest that adalimumab, infliximab, and tocilizumab may be useful medications to obtain quiescence of RPC.

Keywords: adalimumab; infliximab; interferon-alpha-2a; relentless placoid chorioretinitis; tocilizumab; uveitis.

Figure 1

PRISMA flow diagram.

Figure 2

Patient 1. (A) Right eye revealed yellow-white placoid lesions in the posterior pole and extending into the mid-periphery. Some appeared gray and healed, and others appeared more white and active (superior nasally). Left eye (not shown) looked similar to the right eye. (B,C) Autofluorescence revealed bilateral hypofluorescent lesions with hyperfluorescent edges. (D) Early fluorescein angiography (FA) showed early hypofluorescence of lesions. (E) FA showed late staining of the lesions. (F) ICG showed hypofluorescence of the lesions. (G) Late ICG showed continued hypofluorescence of the lesions.

Figure 3

Patient 1. (A) Ultrawide-field fundus color imaging over time. Right eye only. The left eye demonstrated similar findings. The placoid lesions increased in quantity over time from initial presentation, 1 month, and 4 months to 14 months after presentation. (B) Fundus autofluorescent studies over time. Right eye only. The left eye demonstrated similar findings. The hypo/hyperautofluorescent lesions increased in quantity over time from initial presentation, 1 month, 2 months, 3 months, and 4 months to 14 months after presentation.

Figure 4

Patient 2. (A,B) Ultrawide-field fundus color imaging showed yellow-white placoid lesions in the posterior pole and extending into the mid-periphery. (C,D) Placoid lesions with central hypofluorescence and peripheral hyperfluorescence. (E,F) SD-OCT imaging demonstrated thickened retina, disrupted foveal contour, subfoveal and hyper-reflective lesions of the outer retina layers (red arrows) in both eyes. (G,H) After IV methylprednisolone, the SD-OCT demonstrated a resolution of subretinal fluid in the right eye, but the hyperreflective alterations persisted in the outer retina in the left eye and the EZ layer at the macula.

Figure 5

Patient 2. Fluorescein angiography: (A) early hypofluorescence with late (B) hyperfluorescence of the placoid lesions.

Figure 6

Patient 2. Eight months after the initial visit, on 40 mg/2 weeks adalimumab, visual acuity was drastically improved to 20/40 in the right eye eccentrically. (A,B) Ultrawide-field fundus color imaging showed more yellow-white placoid lesions in the posterior pole and extending into the mid-periphery compared to the initial presentation; (C,D) Placoid lesions with central hypofluorescence and peripheral hyperfluorescence.

Figure 7

Patient 3. (A,B) Fundus pictures showing posterior retinal lesions occurring simultaneously with macular involvement. (C–F) At 12 and 36 months, the lesions look older, healing pigmented but more numerous and widespread.

Figure 8

Patient 3. (A) At presentation, spectral-domain and optical coherence tomography angiography (SD-OCT) showed right hyperreflective lesions of the outer retinal involving the retinal pigment epithelium, the ellipsoid zone, and outer nuclear layers. (B) At 12 months, progression of the macular retinal pigmentary inflammatory lesions with inflammation of the outer retinal and sub- and intraretinal deposits and focal photoreceptor/RPE atrophy.

Figure 9

Patient 3. (A,B) Lesions were hypofluorescent at the early phase of FA, (C,D) with late leakage, and (E–G) Hypofluorescent on all phases of ICG.

Figure 10

Patient 3. (A,B) At last follow-up, intermediate phase of fluorescein angiography (FA) of both eyes showing hypofluorescence of the lesions in the posterior pole with hyperfluorescent borders and extensive widespread new lesions with staining.

Figure 11

Patient 4. (A,B) At presentation, fundus photographs of both eyes showing extensive white/grey placoid lesions in the posterior pole and extending into the periphery, with preretinal heme OD. Lesions appear mostly atrophic and inactive. (B,C) At 5 month follow up, there appears to be no obvious progression of disease or active lesions.

Figure 12

Patient 4. (A,B) At presentation, fundus autofluorescence (FAF) of both eyes showing extensive hypofluorescent lesions with very few scattered lesions with hyperfluorescent edges. (C,D) At 5 month follow up, there appears to be no obvious new lesions/progression or active hyperfluorescent lesions.

Figure 13

Patient 4. (A,B) At presentation, late phase fluorescein angiography (FA) of both eyes showing diffuse late staining of the lesions, with extensive small vessel vasculitis/ferning. There is no neovascularisation of the disc or retina. (C,D) At 5 month follow up, there was regression of the mid-peripheral and peripheral small vessel vasculitis, with no evidence of recurrence of neovascularisation of the disc.

Figure 14