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Case report
A 48-year-old Asian female with no significant past medical history was referred for blurry vision in the right eye. On examination, visual acuity was 20/40 in the right eye and 20/20 in the left eye. Intraocular pressure was 14 mmHg in both eyes. Anterior segment examination was unremarkable. Posterior segment examination demonstrated significant pigment accumulation along the distribution of retinal veins in the right eye, whereas the left eye demonstrated subtle paravenous pigmentary changes without significant pigment clumping ( Fig. 1 A and B). On green wavelength fundus autofluorescence (FAF, Optos; Marlborough, MA), hypoautofluorescent lesions corresponded to pigmentary accumulation and were much more marked in the right eye. Hyperautofluorescent lesions corresponded to subtle pigmentary alterations, often difficult to detect ophthalmoscopically ( Fig. 1 C and D). A peripheral blood sample was sent to Invitae (San Francisco, CA), where 248 genes implicated in inherited retinal dystrophies were tested and found to be negative for any variants that could be causative for the patient’s phenotype. The patient had no known history of trauma. Of note, exam and fluorescein angiography showed no signs of an inflammatory process. A diagnosis of pigmented paravenous retinochoroidal atrophy (PPRCA) was made.
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