[Renal-coloboma syndrome].
METHODS
We describe a woman with optic disc pit and bilateral renal hypoplasia as a papillorenal syndrome. DNA analysis for PAX2 mutations revealed a heterozygous mutation (nucleotide 619 in exon 9). A first uncle and a cousin had the same PAX2 mutation.


CONCLUSIONS
The association of optic nerve colobomas and renal anomalies comprises a autosomal dominant syndrome for mutations in the PAX2 gene. Ophthalmic and renal diseases are highly variable; the ophthalmologist must check for a renal problem when a coloboma is detected.
Asensio Sánchez
V M
VM
Hospital General del INSALUD, Medina del Campo, Valladolid, España.
Corral Azor
A
A
Bartolomé Aragón
A
A
De Paz García
M
M
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D003103:Coloboma / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008875:Middle Aged; D009154:Mutation; D009898:Optic Disk / Q000002:abnormalities* / Q000473:pathology; D051762:PAX2 Transcription Factor; D011859:Radiography; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D014157:Transcription Factors