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Pigmented sclera: a diagnostic challenge?
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Dark pigmented spots in sclera were seen in both eyes (fig 1
; see p 491). The combination of chronic arthritis, dark urine, pigmentation, and family history suggests the diagnosis of alkaptonuria.
[in a new window] Figure 1 Urine colour (Neat, unalkalinised: Alk, alkalinised).
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The sister also has alkaptonuria (fig 2; see p 491). Alkaptonuria is an autosomal recessive disorder. Siblings are more likely to suffer from the condition than parents or offspring. Usually there is a history of consanguineous marriage in the parents of affected offspring. However, the parents of the brother and sister reported here were unrelated to each other before marriage and hailed from widely different geographical areas of the UK. One in 1000 persons in the UK is a carrier for the alkaptonuria gene.
[in a new window] Figure 2 Metabolism of phenylalanine and tyrosine.
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The diagnosis of alkaptonuria is made by demonstrating homogentisic aciduria (fig 1
below). Analytical methods for homogentisic acid are readily
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- Pigmented sclera: a diagnostic challenge?
- V Mishra, L R Ranganath
Postgrad. Med. J. 2004 80: 491.[Extract] [Full Text] [PDF]
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