SELF ASSESSMENT ANSWERS Pigmented sclera: a diagnostic challenge?
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چکیده
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.
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Pigmented sclera: a diagnostic challenge?
F igure 1 shows the eyes of a 53 year old man who has suffered with severe generalised arthritis for more than 15 years, requiring left knee replacement at the age of 45 years. He has noticed dark urine on several occasions and passed many renal stones. His sister (aged 52 years) also has generalised arthritis especially in the large joints of the lower limbs and the back. In addition, she has ...
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