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Postgraduate Medical Journal 2004;80:493-494
© 2004 Fellowship of Postgraduate Medicine

SELF ASSESSMENT ANSWERS

Pigmented sclera: a diagnostic challenge?

The first 150 words of the full text of this article appear below.


Q1: What is the diagnosis in the male patient?
Dark pigmented spots in sclera were seen in both eyes (fig 1Go; see p 491). The combination of chronic arthritis, dark urine, pigmentation, and family history suggests the diagnosis of alkaptonuria.


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  		Figure 1  Urine colour (Neat, unalkalinised: Alk, alkalinised).

 

Q2: Does his sister have the same condition?
The sister also has alkaptonuria (fig 2Go; 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.


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  		Figure 2  Metabolism of phenylalanine and tyrosine.

 

Q3: What further investigations would you perform to confirm your diagnosis?
The diagnosis of alkaptonuria is made by demonstrating homogentisic aciduria (fig 1Go below). Analytical methods for homogentisic acid are readily . . . [Full text of this article]


Relevant Article

Pigmented sclera: a diagnostic challenge?
V Mishra and L R Ranganath
Postgrad. Med. J. 2004 80: 491. [Extract] [Full Text] [PDF]





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