Congenital Optic disc Anomalies

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Congenital Optic disc Anomalies

• Christopher Lyons
• University of British Columbia

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Congenital Optic Disc anomalies

• Optic nerve hypoplasia
• Aicardi syndrome
• Morning glory disc
• Disc drusen
• NOT
• Colobomatous discs
• Megalopapilla
• Optic disc pit

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Hoyt 1972 Infant disc reflects whole pre-natal
eye-cortex visual pathway.
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Pre-natal cortical injury

• 16 yrs
• Left-sided pre-natal injury
• Left microphthalmos
• Right hemiparesis
• Right hemianopia

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Pre-natal cortical injury

• 16 yrs
• Left-sided pre-natal injury
• Left microphthalmos
• Right hemiparesis
• Right hemianopia
• Right bow-tie atrophy

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Pre-natal cortical injury

• Causes trans-synaptic degeneration
• Bow-tie atrophy
• Usually associated with decreased disc diameter

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Optic nerve hypoplasia

• Is now unquestionably the most common congenital
  optic disc anomaly encountered in ophthalmologic
  practice
• Greater recognition
• Greater prevalence

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Optic nerve Hypoplasia
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Severe ONH vascular patterns, pigment
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Optic nerve Hypoplasia
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Optic nerve Hypoplasia

• CNS abnormalities
• Neonatal jaundice hypothyroidism
• Neonatal hypoglycemia, seizures Panhypopituitary

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ACTH deficiency

• Risk of sudden death during febrile illness
• Addisonian crisis
• (Note at time of strabismus surgery)

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MRI

• Unilateral hypoplasia does not preclude
  underlying intracranial malformations
• Cerebral malformation ? neurodev impairt
• Absence of the normal posterior pituitary bright
  spot, shifted back to hypothalamus

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Pt C.T. Age 15/12. RXT, amblyopia
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Segmental Hypoplasia
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CJ, 17 yrs. Born _at_ 25/40, 760g
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Pt CW 16 yrs. Born _at_ 27/40B.Weight760g
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ON Hypoplasia with big discs Ragge, Hoyt,
Lambert.1991

• 10y old boy. Lesion R optic radiation, late fetal
  life
• Homonymous hemianopia, disc cups
• Trans-synaptic degeneration, 50reduced axonal
  numbers

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PVL and Disc Cupping

• Hypoxic injury to periventricular white matter,
  29-34th wk gestation.
• Affects 1/3 premature infants
• Cupping is the result of trans-synaptic
  degeneration of retino-geniculate axons after the
  scleral canal has established a normal diameter.

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PVL
13 yrs, 2/12 premature, abnormal gait,
20/20,20/25. glaucoma suspect
Brodsky MC, Arch Ophthalmol 119626-72001
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Disc cupping
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Optic nerve hypoplasia

• Not uncommon
• Spectrum of severity
• Anterior reflection of whole pathway
• Associated with pre-natal injury
• Intracranial associations
• Look for endocrine deficits
• May be cause of sudden death

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Isabella, 3/12
Infantile spasms R anophthalmos
Aicardi Syndrome
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Fundus examination
17m/o boy. Poor vision, nystagmus
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CT Angiogram
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CTAngiogram
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MR Angiogram
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Pt J.Y. Capillary Hemangioma
Right Morning glory disc
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Pt W.K. ? L cataract
L Eye TVL remnants pupillary membrane Morning
Glory Disc
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Morning Glory Disc anomaly

• 20/200- LP
• FgtM
• Trans-sphenoidal basal encephalocele
• Hypertelorism
• Chiasm and hypothalamus protrude
• Respiratory obstruction
• Nasal polyp

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Regional mesodermal dysgenesis

• Hypoplasia of ipsilateral vasculature Moya Moya
• PHACE syndrome
• Posterior Fossa malformation
• Haemangioma
• Arterial anomalies
• Cardiac anomalies and aortic coarctation
• Eye anomalies
• Associated with pupillary membrane remnants

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Optic Disc drusen
Small crowded disc No cup Peripapillary
reflex Vascular anomalies (Buried in children)
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Drusen vs papilledema
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FA Late staining
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Disc Drusen
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Megalopapilla

• Abnormally large disc, normal configuration
• Cup is round or horizontally oval
• Racial predisposition
• Familial features

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Pt B.C NF1, Peters anomaly and Moya Moya
syndrome
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6 café-au-lait spots
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Unilateral ONH
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Optic nerve Hypoplasia
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