Background. Tilted disc syndrome (TDS) has a varied morphological appearanc
e which can be difficult to differentiate from acquired optic nerve patholo
gy. In addition, there are visual deficits and potential complications asso
ciated with this syndrome. Failure to recognize features of the TDS frequen
tly leads to unnecessary medical evaluation or improper examination for pos
sible associated ocular complications. Methods. The literature is reviewed
to examine the embryonic developmental defects that create TDS. Characteris
tic ophthalmoscopic features of the disc, visual field deficits, electrofun
ctional abnormalities, retinal pigment epithelial and choroidal hypoplasia,
refractive error, and choroidal neovascular development are examined from
a clinical standpoint. Results. The literature clearly identifies visual de
ficits and ocular complications, which must be understood in the context of
TDS. Conclusions. TDS is a congenital anomaly that has visual deficits and
an appearance that can mimic serious neurological disease. Also, there are
potential vision-threatening complications that are typically not associat
ed with a congenital anomaly.