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Pseudofilariasis, a Presenting Sign of Alkaptonuria
Frances Marrero1, Henry D Perry1,2, Codrin E Iacob3
1Ophthalmic Consultants of Long Island, Rockville Centre, NY.
Pseudofilariasis, characterized by wormlike conjunctival deposits, can be an early indicator of Alkaptonuria. Recognizing these ophthalmic signs aids in earlier diagnosis of this rare metabolic disorder.
Area of Science:
- Ophthalmology
- Metabolic Disorders
- Genetics
Background:
- Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder caused by deficiency of the enzyme homogentisate 1,2-dioxygenase.
- This deficiency leads to the accumulation of homogentisic acid (HGA) in the body, causing ochronosis and associated complications.
Observation:
- A 49-year-old man presented with black, wormlike objects in his conjunctiva, mimicking filariasis.
- Ocular examination revealed stationary, black, vermiform foreign bodies in the bulbar conjunctiva and pigmented deposits.
Findings:
- Conjunctival biopsy demonstrated dilated lymph channels with proteinaceous material consistent with ochronotic pigment.
- Histopathological findings confirmed Alkaptonuria as the underlying cause of the pseudofilariasis presentation.
Implications:
- Pseudofilariasis can serve as a presenting sign of Alkaptonuria, potentially years before clinical diagnosis.
- Awareness of these ophthalmic manifestations can lead to earlier diagnosis, preventing unnecessary investigations and improving patient management.
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