CONGENITAL OPTIC

NERVE ANOMALIES
NANDINI SINGH
S.NO: 63
ROLL NO:68
 1. OPTIC NERVE HYPOPLASIA
• Optic nerve hypoplasia (ONH) is the most common optic disc
anomaly

• The third leading cause of blindness in children in the western world

after cerebral damage and retinopathy of prematurity.

• Risk factors for ONH include

1. Young maternal age,
2. Maternal smoking,
3. Preterm birth and itscomplications.
 CLINICAL FEATURES

• An abnormally small optic nerve head.

• Double-ring sign: The optic nerve is pale

surrounded by a yellowish peripapillary ring of
scleraand an outer concentric ring of
hypopigmentation.
1. Outer ring of normal junction between
sclera and lamina cribrosa
2. Inner ring denoting extension of retina and
RPE over lamina cribrosa
 HISTOPATHOLOGICALLY

• Subnormal number of axons with normal mesodermal

elements and glial supporting tissue.

• A reduction in the diameter of the hypoplastic optic nerve

and chiasma is demonstrated reliably by MRI, which
establishes the presumptive diagnosis of optic nerve
hypoplasia.
 VISUAL ACUITY AND FIELD DEFECTS
• Ranges from 20/20 to no light perception.

• Usually remains stable throughout life unless amblyopia develops in one eye
or it is associated with suprasellar tumor where it can lead to acquired visual
loss.

• Optic nerve hypoplasia has recently been implicated in the pathogenesis of

amblyopia although it is still not clear whether a small optic disc area is the
cause for decreased vision or the associated hyperopia and anisometropia.

• The affected eye shows localized visual field defects.

• ASTIGMATISM: Warrants attention to correction of refractive error in
children.

• ASSOCIATIONS: Magnetic resonance imaging has revealed coexistent CNS

abnormalities with ONH.

1. Isolated ONH: A reduction in the diameter of the hypoplastic optic nerve and
chiasm is demonstrated reliably by MRI, which establishes the presumptive
diagnosis of optic nerve hypoplasia.
2. Septo-optic dysplasia (de Morsier syndrome): Constellation of optic nerve
hypoplasia, absence of the septum pellucidum, and partial or complete
agenesis of the corpus callosum.
3. Forebrain malformations, schizencephaly and periventricular leukomalacia
Sagittal MRI shows absence of the corpus callosum
 2. MORNING GLORY DISC ANOMALY
 The morning glory disc anomaly is a congenital excavation of
posterior globe that involves the optic disc.

 The term reflects the morphological similarity to the flower of the

morning glory plant.

 Morning glory syndrome is a sporadic condition.

 It usually occurs as a unilateral condition, though bilateral lesions have

been reported.

 Morning glory discs are more common in females (2:1)

 PATHOGENESIS
 The pathogenesis of the condition isunknown.

 One hypothesis argues that the condition results from failure of closure
of the foetal fissure and that it is a variant of optic nervecoloboma.

 Alternatively, a primary mesenchymal abnormalityhas been postulated

on the basis of the glial tuft, the scleral and vascularabnormalities.
 CLINICAL FEATURES
Ophthalmosopic appearance:

1. Funnel-shaped and enlarged dysplastic

optic disc with white tissue,

2. Retinal vessels arising from the

periphery of the disc (spoke wheel
pattern) and running an abnormally
straight course over theperipapillary
retina .
 VISUAL ACUITY: Visual acuity is often very low, being in the range
of counting fingers to 6/60, but it can be associated with no
perception of light.

 AMBLYOPIA: Variable depth based on the extent of the

alteration of the nerve fiber layer and difficult to predict on the
basis of discappearance
 ASSOCIATIONS
• OCULAR ANOMALIES
1. Retinal detachment, both serous and rhegmatogenous,occurs in about
one- third (26-38%) cases of MGDA.
2. Strabismus
• Intracranial disorders
1. Basal encephalocele
2. Agenesis of corpuscallosum
3. Absence of chiasm
4. Panhypopituitarism

Most affected children have no overt intellectual or neurologic deficits.

 (B) Hypertelorism and flat nasal
(A) Morning glory optic discanomaly;
bridge – note bilateral iriscolobomas;
 3. OPTIC DISC COLOBOMA
 Optic disc coloboma can be present in one or both eyes.

 They may arise sporadically or be inherited in autosomal dominant

fashion.

 It has recently been shown to be associated with PAX2 gene mutations as part
of the renal-coloboma syndrome.

 PATHOGENESIS: It is caused by an incomplete or abnormal

apposition of the proximal ends ofthe embryonic fissure.
 CLINICAL FEATURES
 Optic disc coloboma is typically
an enlargeddisc with sharply
demarcated, focal, glistening
bowl shaped excavation of the
optic disc.

 The coloboma occupies the lower

part of the optic nerve head.
 The neuro-retinal rim is absent
inferiorly but is usually
identifiable superiorly.
(A) Optic disc coloboma; (B) FA shows hypofluorescence of the cavity
 VISUAL ACUITY: May be minimally or severely affected and difficult to
predict based on the appearance.

 Careful analysis of the photographic appearances of coloboma involving

the optic nerve has shown that the only feature that relates to visual
outcome is the degree of foveal involvement by the coloboma.

 Significant refractive error and anisometropia are common and need

to be dealt with optimal glass prescription.
 ASSOCIATIONS
1. Optic nerve colobomas may be associated with
the following
 Microphthalmos
 Iris coloboma, lens coloboma andretinochoroidal
coloboma
 Serous macular detachment: can be rhegmatogenous or
non rhegmatogenous.
 SYSTEMIC ASSOCIATIONS LIKE :
 CHARGE syndrome (coloboma, heart anomaly, choanal
atresia, retardation, genital and earanomalies)
 Walker- Warburg syndrome
 Goldenhar’s syndrome
 4. OPTIC PIT

These are rare congenital anomalies that are a part of a

spectrum of congenital cavitary optic disc anomalies
that may be associated with juxtapapillary retinal
detachments.
 PATHOGENESIS
 These are formed through the
herniation of dysplastic retina into
a collagen-lined pocket extending
posteriorly through a defect in the
lamina cribrosa.

 They occur in locations

unrelated to the embryonic
fissure, commonly located at
temporal aspectof disc
 CLINICAL FEATURES
 An optic disc pit is a round or
oval, gray, white or yellowish
depression in the optic nerve
head.
 Visual acuity is usually
normal unlessassociated
with serous macular
detachment.
 VISUAL FIELD DEFECTS:
Paracentral arcuatescotoma is
the mostcommon.
(A) Optic disc pit; (B) optic disc pit and macular detachment
 5. MEGALOPAPILLA
 Megalopapilla is a generic term that connotes an abnormally large optic
disc that lacks the inferior excavation of optic disc coloboma or the
numerous anomalous features of the morning glory disc anomaly.

 This condition is usually bilateral and often associated with a large cup-to-disc
ratio.

 Patients who have megalopapilla are often suspected to have glaucoma.

 Unlike the situation in glaucoma, however, the optic cup is usually round or
horizontally oval with no vertical notch or encroachment .
 VISUAL ACUITY is generally normal in megalopapilla but
may be mildly decreased in somecases.

 VISUAL FIELDS are usually normal except for an enlarged

blind spot, which enables the examiner to rule out low-
tension glaucoma or a compressivelesion.

 Megalopapilla is only rarely associated with brain anomalies,

and neuroimaging is not warranted unless midline facial
anomalies are present.
 6. CONGENITAL TILTED DISC SYNDROME
 The tilted disc syndrome is a nonhereditary bilateral condition.

 The superotemporal optic disc is elevated and the inferonasal disc is

displaced posteriorly, which results in an optic disc of oval appearance
with its long axis obliquely orientated.

 This configuration is accompanied by situs inversus of the retinal

vessels, congenital inferonasal conus, thinning of the inferonasal retinal
pigmentepithelium and choroid, and myopicastigmatism.

 These features presumably result from a generalized ectasia of the

inferonasal fundus that involves the corresponding sector of the optic
disc.
(A) Tilted disc; (B) tilted disc and inferonasal chorioretinalthinning
 7. CONGENITAL OPTIC DISC PIGMENTATION
 Congenital optic disc pigmentation is a condition in which melanin anterior to or
within the lamina cribrosa imparts a gray appearance to thedisc.
 True congenital optic disc pigmentation is extremely rare.

 Congenital optic pigmentation is compatible with good visual

acuity but may be associated with coexistent optic disc anomalies
that decrease vision.

 Most cases of gray optic discs are not caused by congenital optic disc
pigmentation.

 In these disorders, the gray tint disappears within the first year of life
without visible pigment migration.
 TRAUMATIC OPTIC
NEUROPATHY
“Trauma-induced injury to the optic nerve occurring anywhere along
the nerve’s intraorbital to intracranial length”.
ANATOMY OF OPTIC NERVE
 DIRECT INJURIES
• Result from objects that penetrate the orbit and impinge on
the optic nerve causing optic neuropathy by partial or
complete transection of the optic nerve sheath.

• Hemorrhages within and around the nerve may also occur

• Lead to immediate changes in the fundus which can

be detected on ophthalmoscopic examination
 INDIRECT INJURIES
• Indirect TON is caused by the transmission of forces to the
optic nerve from a distant site without disruption of
normal tissue structures.

• The deformative stress transmitted to the skull from blunt

trauma is concentrated in the region of the optic canal.
 INDIRECT INJURIES
1. Anterior : the central retinal artery enters and the central
retinal vein exits the optic nerve 8-12 mm posterior to the
insertion of the nerve into the globe. Injuries anterior to this site
are termed anterior.

2. Posterior: the injury is posterior to site of entry of the central

retinal artery and exit of central retinal vein
 PATHOGENESIS
• PRIMARY MECHANISM
1. Shearing injury – localised ischemia and optic nerve edema
– further ischemia due to compartment syndrome
2. Permanent damage

• SECONDARY MECHANISMS:
1. Ischemia and reperfusion injury
2. Bradykinin
3. Calcium ions
4. Cell mediated mechanisms
 CLINICAL FEATURES
 TON is a clinical diagnosis following a history of a
blunt or a penetrating trauma.
 EXAMINATION
• Globe rupture , IOFB, fracture
• EOM motility
• Color vision - Checking red desaturation is a useful
alternative if color plates are not available.
• Visual fields – Any type of field defects may be seen in optic
nerve trauma e.g.
• altitudinal, central, paracentral, hemianopic,etc.
• Fundus examination
 INVESTIGATIONS

• Neuroimaging
• VEP
• ERG
 MANAGEMENT
 Essentially by a multi-disciplinary approach involving the
ophthalmologist, physician, neuro-surgeon, and an
otorhinolaryngologist

 The optimum management protocol is yet to be elucidated

as there is paucity of prospective large-scale clinical trials

 Steroids may be given.

• National Acute Spinal Cord Injury Study 3 [NASCIS
III], a multicenter clinical trial that evaluated patients with
acute spinal cord injury
• In this study, patients were treated with
1. placebo,
2. methylprednisolone [MP],
3. or naloxone
 Bone impingement of the optic canal:
Endoscopic optic canal and orbital apex
decompression may be offered in select
cases, especially if the optic neuropathy
is progressive.
 However, this option should be
approached with extreme caution
because of the proximity to the
cavernous sinus and carotid siphon and
possible bony instability of the skull
base.
 The procedure should only be performed
by an otolaryngologist experienced in
stereotactic endoscopic sinus and skull
base surgery.
 The patient and/or family should also be
informed that there is no definitive data that
proves efficacy of this procedure in TON
and that optic canal decompression may
result in additional damage to the
intracanalicular optic nerve
FOLLOW UP
 Daily follow up - acute phase following
trauma, immediately after surgical
therapy, and during the period of mega-
dose corticosteroid therapy.
 Weekly follow up - intermediate period
following trauma, surgery, or
discontinuation of steroid therapy
 Long term - to document the final level
of visual function
 Prognosis
Poor prognostic factors:
• Presence of blood within the posterior
ethmoidal cells
• Age over 40 years
• Loss of consciousness associated with
traumatic optic neuropathy, and
• Absence of recovery after 48 hours of
steroid treatment
THANK
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