The report by Gus et al1 in the October
2001 issue of the ARCHIVES describes a family with "renal-coloboma" syndrome,
otherwise known as papillorenal syndrome.2 The
optic disc anomalies in this disorder are not true colobomas. Colobomas result
from the failure of the optic fissure to close and may manifest as defects
in tissues such as the inferonasal iris, choroid, retina, or optic nerve.
In a coloboma affecting the optic disc, the origin of the central retinal
vessels will thus appear to be displaced superotemporally. Characteristic
findings in papillorenal syndrome, on the other hand, consist of an absence
or attenuation of the central retinal vessels within the optic nerves, with
multiple compensatory cilioretinal vessels present.3,4 These
features are suggested in the cases illustrated and described by the authors.1 The term papillorenal syndrome, first employed in 1984,2 effectively
pinpoints the optic papilla as the site where this anomalous retinal vascular
supply can best be recognized. It also avoids the pathogenetic confusion that
habitually occurs with use of the term coloboma.
Parsa CF, Goldberg MF, Hunter DG. Papillorenal Syndrome in a Brazilian Family. Arch Ophthalmol. 2002;120(12):1772. doi: