[MIM 120 330]

(Renal-coloboma syndrome)

Rare. In 50% of cases, autosomal dominant inheritance of a mutation of the PAX2 gene (10q24.3- q25).

Association of:

-        optic nerve dysplasia: large optic disc, sometimes excavated, with the blood vessels emerging from the periphery (retinal coloboma or Morning Glory type defect, see this topic); sometimes: microphthalmia, small corneal diameter, nystagmus, and myopia. In general, visual acuity is not much impaired, but risk of retinal detachment

-        renal hypo-dysplasia: small and underdeveloped kidneys with a decreased number of nephrons, which are enlarged (oligomeganephronia); sometimes horseshoe kidney or multicystic dysplasia: hypertension, proteinuria, progressive deterioration of renal function, risk of end stage renal disease

Anesthetic implications:

check renal function and BP; eye protection

References : 

Updated: February 2019