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October 2001

Renal-Coloboma Syndrome in a Brazilian Family

Arch Ophthalmol. 2001;119(10):1563-1565. doi:

The incidence of renal-coloboma syndrome, a rare autosomal disorder that displays a large variability in expression, is unknown. In 1995, mutations in the PAX2 gene were identified as the cause of renal-coloboma syndrome. Since then, 19 cases with PAX2 mutations have been described.1 We recently studied a Brazilian family with renal-coloboma syndrome affecting 9 individuals from 3 generations.2 To the best of our knowledge, this family represents the largest pedigree (Figure 1) of renal-coloboma syndrome described to date.

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