History of present illness
We present a case of a 39-year-old woman with a past medical history of high myopia referred for evaluation of bilateral chorioretinitis. She reports symptoms of a paracentral scotoma and photopsias in the left eye. These symptoms had initially improved upon administration of oral prednisone. However, the patient experienced recurrent symptoms 5 months after initial treatment, and repeat oral steroids demonstrated limited efficacy. She denies any history of ocular surgeries.
Ocular examination findings
Best corrected visual acuity was 20/20 in both eyes. Intraocular pressure was within normal limits. External examination and slit lamp examination were unremarkable. Dilated fundus examination showed two hypopigmented, circumscribed lesions nasally in the right eye. Multiple well-defined, hypopigmented, round lesions nasal to the disc were noted in the left eye, with one lesion demonstrating blurred margins.
Imaging
Fundus photographs captured ophthalmoscopic findings of hypopigmented, round lesions bilaterally, with blurred margins in one of the lesions in the left eye ( Fig. 28.1 A, B). Fundus autofluorescence demonstrated hypoautofluorescent, round lesions ( Fig. 28.1 C). Fluorescein angiography (FA) of the right eye was unremarkable. The left eye demonstrated multiple hypofluorescent lesions nasally with late staining ( Fig. 28.1 D, E). One lesion demonstrated early hyperfluorescence with mild late leakage. There was no evidence of choroidal neovascularization (CNV) on optical coherence tomography (OCT) or FA. Indocyanine green angiography (ICGA) of the right eye was unremarkable. In the left eye, multiple hypocyanescent lesions were seen nasally ( Fig. 28.1 F, G). OCT revealed normal foveal contour bilaterally ( Fig. 28.1 H, I). OCT over the hypopigmented lesions demonstrated chorioretinal nodules and atrophy of the outer retina ( Fig. 28.1 J, K).
Questions to ask
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What is the patient’s gender and refractive error? Punctate inner choroidopathy (PIC) affects individuals in all demographics but commonly presents in young women with myopia. ,
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Female
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−13.00 + 1.50 × 78 in the right eye and −13.00 + 2.00 × 100 in the left eye
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Does the patient have a recent history of infection or a family history of autoimmune disease? Similar to other white dot syndromes, PIC is theorized to be an autoimmune disease of genetic predisposition triggered by environmental stressors.
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There is no recent infection or family history of autoimmune disease.
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QuantiFERON-TB Gold, Treponema pallidum antibodies, and rapid plasma reagin are negative, and angiotensin converting enzyme and lysozyme are normal.
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Are symptoms unilateral or bilateral? In PIC, symptoms typically present unilaterally despite it being a bilateral disease. ,
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Unilateral symptoms, bilateral disease
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Where is the inflammation located? In PIC, lesions are most often localized to the posterior pole without inflammation, as opposed to multifocal choroiditis (MFC), which can present with varying degrees of anterior chamber and vitreous inflammation and often has more peripherally located lesions. ,
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Peripapillary chorioretinal lesions without anterior chamber or vitreous inflammation
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Is CNV present? CNV represents a complication of PIC seen in 20% to 60% of cases, producing clinical symptoms of vision loss or metamorphopsia. , ,
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No CNV is present.
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Assessment
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This is a case of a 39-year-old woman with past ocular history significant for high myopia demonstrating bilateral PIC without CNV.
Differential diagnosis
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MFC and panuveitis
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Presumed ocular histoplasmosis syndrome
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Sarcoidosis
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Birdshot chorioretinopathy
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Tuberculosis
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Progressive subretinal fibrosis and uveitis syndrome
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Acute posterior multifocal placoid pigment epitheliopathy
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Myopic degeneration
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Multiple evanescent white dot syndrome
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Serpiginous choroiditis
Working diagnosis
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PIC (alternative names: punctate inner choroiditis, multifocal inner choroiditis)
Multimodal testing and results
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Fundus photographs
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Fundus photography in patients with PIC shows multiple small, yellow-white lesions. In the acute phase, these lesions appear yellow or white with indistinct borders, whereas in the chronic phase, these areas become well defined and atrophic with variable pigmentation.
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Fundus autofluorescence
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Active lesions demonstrate slight hyperautofluorescence, whereas inactive, atrophic lesions appear hypoautofluorescent.
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Reactivation of a previously inactive lesion may present with a ring of hyperautofluorescence surrounding an area of hypoautofluorescence.
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OCT
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OCT can identify the structure of lesions, detect disease recurrence before clinical presentation, and help assess disease stage.
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In the acute phase, OCT demonstrates the accumulation of inflammatory material between the Bruch membrane and the retinal pigment epithelium, with subsequent involvement of the subretinal space and outer retina.
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When the atrophic, punched-out lesions develop, outer retina atrophy and increased signal transmission are demonstrated on OCT.
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The presence of CNV can be detected on OCT with the presence of subretinal hyperreflective material and subretinal and intraretinal fluid.
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Optical coherence tomography angiography (OCTA)
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Consider OCTA to distinguish inflammatory infiltrate from CNV, as the treatment for each varies. OCTA has been shown to detect the presence of CNV in patients with inconclusive multimodal imaging.
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FA
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In the acute phase, PIC lesions usually appear hyperfluorescent in the early phase with staining or leakage in the late phase. Occasionally, they may display blocked fluorescence early. ,
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In the chronic phase of the disease, the circular lesions become atrophic and demonstrate window defects on FA.
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CNV on PIC is often classic (type 2) and exhibits a lacy pattern of early hyperfluorescence with late leakage unless blocked by the presence of subretinal hemorrhage.
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ICGA
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ICGA shows hypocyanescent circular spots that can be more numerous than seen clinically.
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Hypocyanescence in the early and late phases suggests choroidal hypoperfusion. Hypercyanescent spots on choroidal vessels may indicate a vasculitic process. ,
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Management
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Presentation of a new or active PIC lesion, especially if it threatens vision or with secondary CNV, warrants interventions such as systemic or local corticosteroids, corticosteroid-sparing immunosuppressive therapy, anti–vascular endothelial growth factor (VEGF) intravitreal therapy, or photodynamic therapy.
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Our patient presented with mild, residual inflammation in the left eye and elected to undergo one more course of systemic steroids with slow taper. For a subsequent flare that presented with a new macular lesion showing hyperautofluorescence on fundus autofluorescence and visible as an outer retinal nodule with shadowing into the choroid on OCT ( Fig. 28.2 A-C), she had a periocular steroid injection to avoid side effects of systemic corticosteroids. The lesion resolved after treatment ( Fig. 28.2 D).
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