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.
Congenital Optic Disc Anomalies
Funny-looking optic discs are a "fun" diversion in an ophthalmology clinic (sarcasm implied here). What was initially a routine exam immediately turns into an agonizing "is this normal or not" exercise. Part of the angst that comes from seeing anomalous optic discs is that some of the congenital disc anomalies are associated with systemic diseases. If there is concurrent visual field loss or decreased visual acuity, the challenge becomes deciding if those defects in the visual system are due to the anomalous nerve, or if there is some other ophthalmic cause that we don't want to miss.