Renal coloboma syndrome

Definition:

Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition comprising optic nerve dysplasia and oligomeganephronic renal hypodysplasia. Mutations in the paired-box gene, PAX2, have been identified in approximately half of individuals with clinical findings suggestive of RCS.

References:

[1]. Lisa A Schimmenti, et al. Renal coloboma syndrome. Eur J Hum Genet. 2011 Dec;19(12):1207-12. [Content Brief]

[2]. Matthew Bower, et al. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Hum Mutat. 2012 Mar;33(3):457-66. [Content Brief]

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