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Case Reports
. 2024 Dec 1;43(12):1578-1580.
doi: 10.1097/ICO.0000000000003587. Epub 2024 Jun 18.

Pseudofilariasis, a Presenting Sign of Alkaptonuria

Frances Marrero  1 , Henry D Perry  1   2 , Codrin E Iacob  3 , David Sachs  1
Affiliations
Case Reports

Pseudofilariasis, a Presenting Sign of Alkaptonuria

Frances Marrero et al. Cornea. .

Abstract

Purpose: To report the association of Pseudofilariasis as a presenting sign of Alkaptonuria.

Method: Case Report.

Results: A 49-year-old Indian man was referred because of wormlike objects in his left conjunctiva. Ocular and family history was non-contributory. He had not been to India in 15 years. Past medical history revealed hypertension, hypercholesterolemia, arthritis, and a myocardial infarct. He had undergone two stents, bilateral Achilles tendon repairs and bilateral knee replacements. ROS showed longstanding back stiffness and pain. On ocular examination the vision was 20/25 in each eye and positive findings were in the left eye bulbar conjunctival which showed stationary black vermiform (filarial in appearance) foreign bodies along with 2 small corneal limbal pigmented deposits. Conjunctival biopsy showed dilated lymph channels with interstitial proteinaceous material of a light brown color consistent with Ochronotic pigment; hence diagnostic of Alkaptonuria.

Conclusions: Pseudofilariasis may be a presenting sign of Alkaptonuria and occur years before a clinical diagnosis is made. Filariasis is always involves white worms and never black. Knowing the ophthalmic signs of this rare disease may lead to an accurate diagnosis earlier thusly avoiding unnecessary tests and examinations.

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Conflict of interest statement

The authors have no funding or conflicts of interest to disclose.

References

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    1. Alkaptonuria - About the Disease. Genetic and Rare Diseases Information Center. U.S. Department of Health and Human Services; 2023. Available at: https://rarediseases.info.nih.gov/diseases/5775/alkaptonuria .

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