History of present illness
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We present a case of a 57-year-old woman with a history of rheumatoid arthritis referred for establishment of care in the setting of chronic hydroxychloroquine use (10 years). She denied any central or peripheral vision loss, nyctalopia, ocular pain, photopsia, new floaters, or metamorphopsia. She also denied any past ocular history.
Ocular examination findings
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Visual acuity without updated refraction was 20/40 in the right eye and 20/25 in the left eye (best corrected visual acuity was 20/20 in both eyes 1 year earlier). Intraocular pressures were normal. Pupils were symmetrical with no relative afferent pupillary defect in either eye. Slit lamp examination was unremarkable except for mild nuclear sclerotic cataracts. Dilated funduscopic examination showed a sharp foveal light reflex and dense scattered paravenous pigmentation in both eyes ( Figs. 13.1 and 13.2 ).
Fig. 13.1
Fundus photo (right eye).
Fig. 13.2
Fundus photo (left eye).
Imaging
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Goldmann visual field showed regional constriction and scotomas corresponding to the areas of pigmentation. Optical coherence tomography (OCT) showed a normal fovea with a preserved ellipsoid zone in both eyes ( Fig. 13.3 ). An area of outer retinal atrophy, corresponding to a focal hyperautofluorescent area on fundus autofluorescence (FAF) in the inferotemporal macula in the right eye, was noted ( Figs. 13.4 and 13.5 ). Comparison of images to outside records from 3 years earlier appear stable.
Fig. 13.3
Optical coherence tomography overlying area of atrophy.
Fig. 13.4
Fundus autofluorescence (right eye).
Fig. 13.5
Fundus autofluorescence (left eye).
Questions to ask
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What is the patient’s past medical history? Specifically, is there any history of a systemic inflammatory or infectious condition (e.g., sarcoidosis, syphilis, tuberculosis)?
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Known history of rheumatoid arthritis, for which she has been taking hydroxychloroquine for over 10 years
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What medications is the patient currently taking or has taken in the past?
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Hydroxychloroquine (4.3 mg/kg/day), which is not known to be associated with peripheral pigmentary retinopathy, but rather showing macular atrophy and pigment changes
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Sulfasalazine
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Is there a family history of any ocular conditions?
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No
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Assessment
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This is a 57-year-old woman with a past medical history of rheumatoid arthritis treated with hydroxychloroquine for many years who presents with bilateral paravenous pigmentation on fundoscopy with corresponding defects on Goldmann visual field.
Differential diagnosis
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Retinitis pigmentosa (pericentral, sectoral, and typical)
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Helicoid peripapillary chorioretinal atrophy
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Serpiginous choroidopathy
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Angioid streaks
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Stickler syndrome
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Sarcoidosis
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Syphilis
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Tuberculosis
Working diagnosis
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Pigmented paravenous retinochoroidal atrophy (PPRCA)
Multimodal testing and results
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Fundus photos
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Pigmentation along retinal veins in the form of either bone spicules, coarse pigment clumps, or fine pigment
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Typically a bilateral process, though unilateral cases have been reported
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Our patient had dense paravenous clumping of bone spicules in both eyes. Maculae appeared unremarkable in both eyes.
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Visual field ,
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Visual fields tend to be variable. They may be normal or may exhibit ring or paracentral scotomas, concentric constriction, or some combination thereof, typically corresponding to the areas of paravenous atrophy.
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Goldmann visual fields were obtained for our patient, which showed constriction and scotomas that corresponded to the dense pigment clumping.
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A Humphrey 10–2 visual field was also obtained in the setting of chronic hydroxychloroquine use, which was full in both eyes.
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OCT ,
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The macula tends to be spared in PPRCA. Hyperpigmented lesions exhibit hyperreflectivity with shadowing. Our patient also exhibited an area of outer retinal atrophy without clinically evident pigmentation.
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FAF
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It is common to have both areas of hypoautofluorescence (typically areas of clumped pigment), where the retinal pigment epithelium (RPE) is atrophic, and areas of hyperautofluorescence (indicating hyperactive RPE), as evident in our patient.
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Fluorescein angiogram (FA)
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A window defect would be expected in the presence of RPE atrophy, whereas blockage would be expected in areas of dense pigmentation.
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Indocyanine green angiography (ICG)
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Hypocyanescence that follows the same pattern as hypofluorescence on FA, but can often extend further out with ICG, indicating that ICG may be better at estimating the extent of atrophy than FA.
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Electroretinogram or electrooculogram ,
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Electrophysiologic data tend to be variable and nonspecific, ranging from normal to undetectable.
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Laboratory testing and imaging
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It is necessary to undergo systemic evaluation to help rule out potential infectious or inflammatory etiologies.
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Testing includes (but is not limited to) chest x-ray; complete metabolic panel; erythrocyte sedimentation rate; C-reactive protein; QuantiFERON-TB Gold; angiotensin-converting enzyme; lysozyme; syphilis serologies; herpes simplex virus, herpes zoster virus, and cytomegalovirus serologies; and antinuclear antibodies.
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Management
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No specific treatment for PPRCA exists.
Follow-up care
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PPRCA is mostly a nonprogressive or slowly progressive disease. Comparison to images taken 3 years earlier reveals stable appearance. Given no available treatment, longer follow-up intervals are usually adequate (sooner if the patient notes any changes).
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Given no evidence of hydroxychloroquine maculopathy, the patient was advised to continue treatment for now with close monitoring.
Algorithm 13.1 : Algorithm for the differential diagnosis of pigmented paravenous retinochoroidal atrophy
