Optic Nerve Disease

prepapillary vascular loops

• 95% are arterial

• appear as loops that extend from the disc into the vitreous & then back to the disc

• spontaneously move with the heartbeat in 50% of cases

• sheathed in glial tissue in 30% of cases

• bilateral 9-17% of the time

• cilioretinal artery also present in 75% of cases

• generally benign

persistent hyaloid artery

• single vessel traveling from disc to the posterior capsule of the lens

• usually attaches inferonasal to the visual axis on the posterior capsule

• present in 95% of premature infant eyes & 3% of full term infant eyes

• usually bloodless

• ocular associations:

  • persistent fetal vasculature

  • coloboma of the disc

  • optic nerve hypoplasia

  • posterior vitreous cysts

persistent Bergmeister’s papilla

• develops around the posterior aspect of the fetal hyaloid artery

• due to incomplete regression of sheath around hyaloid artery

• appearance:

  • tuft of glial tissue

  • usually on nasal ONH

  • nerves w/ this have minimal physiological cupping

• benign

congenital pit of the optic disc

• appearance:

  • local depression that can be yellow-white, gray, black, or other color

  • 0.25-0.4DD in size

  • >50% are temporal (but can be anywhere on disc or peripapillary)

  • nerve w/ this finding is often larger than fellow nerve

• complications:

  • RD

  • posterior retinoschisis

• no known systemic complications or hereditary pattern

optic nerve coloboma

• congenital

• etiology: incomplete closure of embryonic fissure during 2nd month of gestation

• appearance:

  • enlargement of peripapillary area

  • partial/total excavation of the disc (inferior)

  • retinal vessels often are entering & exiting along the edges

  • unilateral or bilateral

  • variable VA (dependent on amount of neural tissue impacted)

  • concomitant iris & retinal defects are possible

• complications:

  • non-rhegmatogenous RD

• systemic associations:

  • CV, GI, genitourinary, nasopharyngeal, musculoskeletal diseases

  • FAS

  • CHARGE syndrome

morning glory disc anomaly

• congenital

• rare

• appearance

  • enlargement & excavation of ONH

  • central core of white tissue

  • peripapillary annulus of variably pigmented subretinal tissue

  • retinal vessels that enter & exit form the borders of the defect

    • vessels are usually straight & sheathed

• complications:

  • non-rhegmatogenous RD (30%)

  • strabismus → amblyopia

    • amblyopia more common in unilateral cases

• associations:

  • intracranial vascular abnormalities (ex: carotid artery stenosis)

megalopapilla

• optic disc that is 2.1mm or larger in the horizontal & vertical dimensions

• enlarged but otherwise normal looking disc

• often mild peripapillary RPE disturbances

• typically normal vision

• associations:

  • optic disc coloboma

  • congenital optic pit

  • morning glory disc

  • high myopia

  • cleft palate

  • mandibulofacial dysostosis

optic nerve hypoplasia

• highly variable presentation (normal - severely involved nerve)

• etiology: failure of development of GCL

  • pharmacological insults prenatally

  • maternal infection

  • high hyperopia, strabismus, amblyopia

  • nystagmus

  • idiopathic

• unilateral = bilateral

• appearance:

  • small ONH

  • retinal vessels enter & exit centrally

  • double ring sign

  • highly variable VA

• associations:

  • pituitary disfunction (anterior, posterior, or panhypopituitarism)

  • strabismus, amblyopia, anisometropia

  • fetal teratogens

endocrinology workup due to association w/ pituitary abnormalities

what is part of the general standard workup for any child w/ an optic nerve hypoplasia?

septo-optic dysplasia

• developmental disorder characterized by ONH hypoplasia, midline brain defects, & pituitary gland abnormalities

• pts can have developmental delays, hormone deficiencies, seizures, & other neurological issues

prepapillary vascular loops

prepapillary vascular loops

persistent hyaloid artery

persistent Bergmeister’s papilla

persistent Bergmeister’s papilla

persistent Bergmeister’s papilla

congenital pit of the optic disc

optic nerve coloboma

optic nerve coloboma

optic nerve coloboma

optic nerve coloboma

iris coloboma

morning glory disc anomaly

morning glory disc anomaly

optic nerve hypoplasia

optic nerve hypoplasia

optic nerve hypoplasia

junction of sclera & lamina cribosa & corresponds w/ size of normal optic disc

what is the outer ring in the “double ring sign” in optic nerve hypoplasia?

border or central ONH tissue w/ retina & RPE

what is the inner ring in the “double ring sign” in optic nerve hypoplasia?