This is a condition that can mimic glaucoma due to the temporal excavation and paracentral or arcuate visual field defects. Serous retinal detachments are fairly common in these cases.
Superior Segment Hypoplasia (Topless Disc Syndrome)
This condition may be mistaken for glaucoma due to the inferior arcuate visual field defect and RNFL thinning on OCT. On exam there is no cupping of the optic nerve (usually), and the superior half of the optic nerve is missing or sometimes looks “lopped off,” leading to the name “topless disc syndrome.” The key question that should be asked in the medical history is if the patient’s mother has diabetes mellitus. Unlike glaucoma, this condition does not need treatment.
Morning Glory Disc Anomaly
Like optic pits, morning glory disc anomalies have a risk of serous RDs. Neuroimaging is indicated at initial diagnosis of morning glory disc anomaly to evaluate for basal encephaloceles and CNS vascular anomalies such as moyamoya disease.
Congenital Tilted Disc Syndrome
This condition mimics early bitemporal hemianopia; as such, these patients often get MRIs to look for chiasmal disease. Because these depressions are relative due to refractive error (colobomatous excavation) and not absolute, it’s worth trying different lenses to see if the defects resolve - a compressive lesion such as a pituitary macroadenoma would not improve with different lenses.
Optic Nerve Hypoplasia
Optociliary Shunt Vessels
Optociliary shunt vessels (retinochoroidal shunts), are normal congenital collaterals between the retinal and choroidal venous circulation. In conditions that cause chronic central retinal vein obstruction, venous outflow becomes redirected to the choroidal venous circulation, resulting in dilation of these collateral vessels.