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A 58-year-old woman with interstitial cystitis presented for pentosan polysulfate (Elmiron) maculopathy screening. She reported no visual symptoms or ocular history, and routine eye examination results 6 months prior were reportedly normal. She was diagnosed with interstitial cystitis in 2004 and had been taking pentosan polysulfate, 100 mg twice daily, for 4½ years for a cumulative dose of 324 g. Her medical history was otherwise significant for moderate bilateral hearing loss detected in early childhood and type 2 diabetes, hyperlipidemia, and hypothyroidism treated with a therapeutic regimen of metformin, pravastatin, and levothyroxine supplementation, respectively.
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Congenital rubella syndrome
D. Obtain a more detailed medical history and provide an Amsler grid
Additional questioning revealed the patient’s mother was diagnosed with “German measles” early in pregnancy and expected her child might be blind and/or deaf. The patient was born in Canada and was small for gestational age, but had no apparent visual, auditory, or cardiac issues at birth. In early adulthood, when joining the military, the patient was tested and informed of her serologic rubella immunity. This patient’s presentation with early-onset hearing loss, granular retinal pigmentary mottling with punctate hyperpigmentation and hypopigmentation (“salt and pepper”), and irregularly distributed speckled fundus autofluorescence changes is consistent with congenital rubella syndrome (CRS).
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CME Disclosure Statement: Unless noted, all individuals in control of content reported no relevant financial relationships. If applicable, all relevant financial relationships have been mitigated.
Corresponding Author: Nieraj Jain, MD, Department of Ophthalmology, Emory University School of Medicine, 1365B Clifton Rd NE, Ste 2400, Atlanta, GA 30322 (firstname.lastname@example.org).
Published Online: April 1, 2021. doi:10.1001/jamaophthalmol.2020.4624
Conflict of Interest Disclosures: None reported.
Funding/Support: Dr Jain receives salary support through Foundation Fighting Blindness Career Development Award CD-C-0917-0748-EEC.
Role of the Funder/Sponsor: The Foundation Fighting Blindness had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.
Additional Contributions: We thank the patient for granting permission to publish this information.
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