Papillorenal syndrome historical perspective

Historical Perspective

Rieger in 1977 first reported a family in whom the male died because of chronic kidney disease and bilateral optic disc anomalies. His son on examination also showed eye changes involving macula and retina but on the kidney workup was normal but on the other hand, his daughter was having normal vision with no eye abnormalities suggested from renal failure. This is a variable expression not uncommon in Autosomal dominant syndrome.

Karcher in 1979 described a combined case of father and son from a family showing some eye anomalies and renal disease as well. The eye anomalies found in his son was named morning glory optic disc anomaly. There was a high uncertainty that whether morning glory includes colobomatous defects or its just the abnormal regression of mesodermal embryonic disc structures. Bron et al in 1989 described the same disorder under the term Papillorenal syndrome. In 1998 then Parsa concluded that this is most likely a condition of the dysplastic disc rather than being called coloboma, so the paillorenal syndrome was the most appropriate term designated.

Schimmenti et al. & Sanyanusin et al. in 1995 four individuals ( One father and 3 son) of having coloboma of optic nerve, kidney anomalies and also the presence of vesicoureteral reflux. The father on workup was found to be having normal with respect to the renal function. Although Eye examination showed the presence of myopia an coloboma in eyes bilaterally. But all 3 son was having kidneys and eyes affected to variable extent.

Amiel et al. in 2000 described a family of 3 members with striking ocular phenotypic variability. One of them was having renal hypoplasia along with eye manifestation while other 2 were having renal anomalies ( Unilateral cystic renal hypoplasia) with optic disc anomalies bilaterally.