Papillorenal syndrome physical examination

Physical examination

Clinical findings seen in RCS are mainly observed in eyes and kidneys. The organ specific abnormalities seen are mainly due to corresponding tissue specific PAX2 gene expression during the embryonic period. The common affected tissues are inner ear, brain (CNS), spinal cord and less commonly urogenital ridge.

The common eye findings seen are- Enlargement of optic disc with blood vessels seen coming out from the periphery.

The retinal blood vessels are more in number and tortuosity as compared to seen in normal individuals. The common termed anomalies and condition seen in patients with RCS are Optic nerve dysplasia, morning glory abnormality, and or optic nerve disc dysplasia. Less common conditions seen along with are scleral staphyloma, optic nerve cyst, Microphthalmia, reduced corneal diameters along with foveal hypoplasia and macular anomalies.

Here are shown few pictures of fundus from patients with Renal-coloboma syndrome along with a picture of normal retina is placed for camparison

a- Left Retinal image of patient showing excavated optic disc in a patient with RCS having PAX2 mutation

b) Right retinal image showing temporal retinal defect

c) R retinal image showing optic disc enlargement in a patient having PAX2 mutation

The important point worth considering I'm all three images is the emergence of retinal vessels from the periphery of disc rather than from the center.

Image d) is kept fro comparison and is showing the normal retina with typical smaller optic nerve and retinal vessels emergence from the disc center as compared to patients with RCS with emergence from the edge or periphery.