Mi SciELO
Servicios Personalizados
Revista
Articulo
Indicadores
Citado por SciELO
Accesos
Links relacionados
Citado por Google
Similares en SciELO
Similares en Google
Compartir
Archivos de la Sociedad Española de Oftalmología
versión impresa ISSN 0365-6691
Resumen
ASENSIO SANCHEZ, VM; CORRAL AZOR, A; BARTOLOME ARAGON, A y PAZ GARCIA, M. de. Renal-coloboma syndrome . Arch Soc Esp Oftalmol [online]. 2002, vol.77, n.11, pp.635-637. ISSN 0365-6691.
Case report: 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. Discussion: 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.
Palabras clave : PAX2 gen; kidney; retina.