| | Features |
| Congenital abnormalities |
| Abnormalities of disc size |
| Aplasia | - Complete lack of the optic nerve, disc, retinal nerve fiber layer, ganglion cells, and retinal vasculature
- Extremely rare
- Typically associated with other ocular malformations
|
| Hypoplasia | - Disc is small, pale, and surrounded by a yellowish halo bordered by a ring of pigmentation (double-ring sign)
- Bilateral involvement is more common than unilateral
- Most common congenital optic disc anomaly
- Associated with CNS and endocrine abnormalities (septo-optic dysplasia)
|
| Megalopapilla | - Disc appears normal but is >2.1 mm in diameter (regardless of age)
- Usually bilateral
- Most cases represent a physiologic variant of normal
- Rarely associated with anterior encephalocele and midline facial anomalies
|
| Abnormalities of disc conformation |
| Tilted discs | - Characterized by elevation of the superotemporal disc, posterior displacement of the inferonasal disc, situs inversus of the retinal vessels, inferonasal conus, and thinning of the inferonasal RPE and choroid
- Usually bilateral
- Visual acuity is normal, though there may be a superior pseudo-bitemporal visual field defect
|
| Morning glory disc | - Large orange-pink disc with a central, white tuft of glial tissue, and retinal vessels proceeding radially from the disc
- Usually unilateral
- Visual acuity is variable
- May be associated with congenital cataracts and midline cranial defects; rarely associated with capillary hemangiomas, moyamoya, and renal disease
|
| Optic disc coloboma | - Appears as a sharply defined, white, inferiorly decentered excavation of the optic disc with thinning of the inferior neuroretinal rim and preservation of the superior rim
- May be unilateral or bilateral
- Often syndromic (eg, CHARGE syndrome, Walker-Warburg syndrome, renal coloboma [papillorenal] syndrome, focal dermal hypoplasia, Aicardi syndrome, Goldenhar syndrome, linear sebaceous nevus syndrome, Noonan syndrome)
|
| Optic pit | - Oval or round depression in the optic disc; may appear gray, white, or yellowish
- Usually unilateral
- Visual acuity usually is not affected, but central vision loss may occur due to serous macular detachments
|
| Prepapillary staphyloma | - The optic disc itself appears normal, but the surrounding retina is deeply excavated and the RPE and choroid are atrophic
- Usually bilateral
- Visual acuity is markedly reduced and cecocentral scotoma is present
- Associated with axial high myopia and facial capillary hemangioma
|
| Pseudoswelling |
| Hyperopia | - In individuals with hyperopia and small eyes, the small scleral opening may make the optic nerve appear small and elevated and may be mistaken for true optic disc swelling
|
| Myelinated fibers | - Appear as striated white patches with feathery borders (feathery appearance distinguishes it from true optic disc swelling)
- Most often unilateral, but may be bilateral
- Visual acuity is usually normal
|
| Optic disc drusen | - Appear as multiple round to irregular, whitish-yellow dots or granules within the nerve substance, on the surface of the disc, and occasionally in the peripapillary retina
- Most commonly bilateral, but may be unilateral
- Can cause peripheral visual field defects
|
| Bergmeister papilla | - White fibrous tissue (glial remnant) overlays the disc or peripapillary retina
- Visual function is normal
|
| Acquired abnormalities |
| Cupping | - Refers to an increase in the size of the central depression in the optic nerve (optic cup)
- Normally, the ratio of the cup diameter and the disc diameter is ≤0.6
- Increased cupping is most commonly due to glaucoma, but it can also occur with ischemia and inflammation
|
| Swelling | - Optic disc appears elevated with blurred or indistinct margins; hemorrhage and/or exudates may be seen on the disc surface
|
| Papilledema | - Optic disc swelling caused by elevated ICP
- Usually bilateral
- Affected patients typically have symptoms of elevated ICP
|
| Inflammation (optic neuritis) | - Optic disc swelling caused by an inflammatory condition (eg, multiple sclerosis, sarcoidosis, infection, or postinfectious)
- Optic disc swelling usually is mild
- Usually unilateral
- Other clinical signs of optic neuropathy are often present (eg, decreased visual acuity, afferent pupillary defect, visual field defects)
|
| Ischemia | - Occurs as a consequence of:
- Atherosclerotic CVD (most commonly in older adults with atherosclerotic risk factors)
- Giant cell arteritis
- Systemic hypotension
- May be unilateral or bilateral
- Disc swelling may be diffuse or sectoral
- Other clinical signs of optic neuropathy are often present (eg, decreased visual acuity, afferent pupillary defect, visual field defects)
|
| Compression | - Swelling caused by compression of the optic nerve within the orbit (eg, intracranial or intraorbital tumors, Graves ophthalmopathy, aneurysmal bone cysts, orbital hemorrhage or vascular anomalies, orbital emphysema, fibrous dysplasia, osteopetrosis)
- Proptosis usually is present and abnormalities of eye movements may occur
|
| Infiltration | - Swelling caused by infiltration of the optic disc (eg, by leukemia, lymphoma, metastases, or sarcoid)
- Severe visual loss typically is present
|
| Atrophy | - Change in the normal pink disc color to a pale or whitish appearance
- Indicates irreversible optic nerve damage
|
| Diffuse atrophy | - Nonspecific sign of optic nerve damage
- Any of the acquired conditions listed above (except glaucoma) can result in diffuse optic atrophy
|
| Segmental atrophy | - Can occur in different settings:
- After an ischemic insult – Typical appearance is superior or inferior hemi-atrophy
- Dominant optic atrophy (a hereditary neuropathy) – Appears as wedge-shaped temporal atrophy
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