SECTION 8 ONH DISEASES AND ANOMALIES

GENERAL ANATOMY
Def
Nerve fibre tract containing 1.2mil NF (larger discs more)
Location
Originates from ganglion cells
Synapses at LGB
Posterior to lamina cribrosa
Histology
Axons sheathed in myelin covering
ON sheath = continuation of meninges and sub-arachnoid space
Communicates intracranially so that nerves are surrounded by CSF
Divisions
Intraocular (1mm)
Orbital (30mm)
Intracanalicular (4-10mm)
Intracranial (10mmm to chiasma)
ONH morph
Retinal portion = optic disc with central depression as physiological
cup
Oval
1.5mm vertical
Lies 10-15 degrees from fovea, slightly above horizontal meridian
Scleral opening is rigid and non elastic
Vascular
Through ophthalmic artery (branch of internal CA)
supply to
Central retinal artery enters nerve posterior to globe, follows N
ON
through lamina (constricted) to inside globe > bifurcates to superior
and inferior retinal arteries supplying retina
Few superficial arterial capillaries to disc surface (most capillaries on
disc are from venous circulation)
Return of blood is through central retinal vein > bifurcation may be
just behind or on lamina
Vascular
Short posterior ciliary arteries, posterior ciliary arteries, pia arteries
supply to
(also from ophthalmic artery)
ONH
Posterior ciliary artery branches also supply choroid, circle of Zinn,
retrobulbar portion of ON and cribriform plate

S+S OF ONH DISEASE

Clinical presentations relate to suppression of small calibre NF (of papillomacular
bundle serving cone function at fovea)
1. Loss of vision:
- Main symptom of ON disease
- Depends on site
- Loss may be mono/bi
2. Visual field defects:
- Varies depending on site
- Central scotoma, centrocaecal, altitudinal, arcuate
3. Diminished pupillary light reactions
- RAPD, Direct
4. Colour vision disturbances
- Coloured objects appear dull and washed out
- Red top test (central vs peripheral or one eye to the other)
5. Diminished light brightness sensitivity
- Surroundings appear dim
- Comparison of right light in each eye
- Normal eye tested first
- Ask px which was brighter
6. Pain
- Only prominent in retrobulbar neuritis
- There is pain deep in orbit, particularly on eye movement or pressure on globe
ANOMALIES OF DISC
- Normal variation of size, shape and contour exists
1. Variation in refraction
- Associated with varied size: Hyp = smaller discs, My = larger discs
- Always look at symmetry
- High My: sometimes temporal vessels are stretched into posterior pole
staphyloma
- Developmental anomalies (defects in closure of foetal fissure)
2. Hyaloid remnants, Bergmeisters papilla, glial remnant, etc
- Failure of hyaloid vascular system to be resorbed
3. Coloboma of disc
Def
Congenital defect with mal-closure of foetal cleft
Morph
ONH appears larger than usual,
often positioned in inferior and inferior temporal area;
Associations
sectorial hypoplasia of RPE
non-rhegmatogenous RD
coloboma of retina, choroid, lens and iris
S+S
VA usually reduced with field defect, particularly if macular
fibres involved
4. Morning glory
- Variation where vessels emerge like spokes of wheel with mass of central glial
tissue
- Megalopapllae: large/huge disc (not common)

5. ONH hypoplasia
Morph

Presentatio

Aet

Small, greyish disc

Double ring or yellow halo around it
May appear swollen (DDx papilloedema)
Mostly bilateral
Found in 10% normal px
Due to failed development of ganglion cells > reduced amount
of NF
More at risk for future diseases, notably glaucoma
S+S
VF defects mimic glaucoma
Depending on severity: Reduce VA, RAPD, field defects
Association
CNS disorders
Diabetic mohers
on anti-epileptic drugs, used quinine or LSD
6. Tilted disc Segmental hypoplasia
Morph
Tilted to any side, but usually inferior nasal
Vertical axis off with horizontal tilting
Undermining/sloping
Aet
Due to incomplete closure of foetal fissure
Often accompanied by My
Relate field in direction that they are tilted
Physiology
NF squashed/crushed in optic canal
Scleral crescent at end of downward tilt
Situs inversus of vessels = vessels travel nasally before sharp
temporal turn
Becomes malinserted disc if severe
S+S
May have superior temporal field defect (DDx with chiasmal
compression)
7. Malinserted disc
Morph
Presents with raised nasal side due to oblique insertion of ONH
in scleral canal
May appear like papilloedema
Association
Scleral crescent and/or choroidal crescent
S+S
May have field alteration
Def
Often used synonymously with tilted disc

8. Drusen of ON/Hyaline bodies/pseudo-papilloedema

Def
Deposits of hyaline-like calcific material within substance of
ONH
Epidemiolog
0.3 1% of population
y
Frequently familial and bilateral
May lie deep beneath surface of disc tissue and not easy to
identify ophthalmoscopically, particularly in young children >
presentation needs DDx to prevent px from unnecessary
invasive procedures and expense
Feature
1. Absent optic cup (early papilloedema has swelling at disc and
found in OD
cup)
with Drusen
2. Spontaneous venous pulsation in 80% ODD can elicit by
DDx
adding slight pressure to globe
Drusen vs
3. Retinal veins anomalous branching patterns (vessels look
papilloedem
double/tortuous)
a
4. Veins not dilated and vessels not obscured over disc surface
5. Disc colour = pinky yellow (early papilloedema is hyperaemic)
6. Peripapillary NF striations not obscured
7. DM lumpy
8. Drusen may autofluoresce in blue or red free light
9. Fl doesnt leak, but my stain drusen (early DO shows early Fl
leakage)
Complicatio
Majority remain asymptomatic
ns
Drusen may compress and damage walls of deep OD vessels >
subretinal/subpigment epi haem
Rare complications = peripapillary haem or choroidal NV with
subsequent macular haem
Occasional progressive but limited loss of VF with NF bundle
pattern
Associations
Angoid streaks
Retinitis pigmentosa
Optic atrophy
Renal dysfunction
May be associated with glaucoma even though theres no
cupping
9. Prepapillary vascular loops
Morph
May be venous or arterial
Loops or twists from disc into vitreous
May be covered with glial tissue > cloudy appearance
Tend to move with eye movements
DDx
From acquired loops
- multiple,
- doesnt extend into vitreous
- associated with venous obstruction, compression due to
tumours, or open angle glaucoma
10.
Myelinated NF
Def
Fairly common finding on disc that might simulate disc
oedema

Morph

S+S

11.
-

Usually myelination of NF stops at lamina cribrosa > If it

persists, presents as feathery yellow white
Mild = away from disc or to varying degrees from disc
Vessels may or may not be obbscured
Extensive myelination > enlarged blind spot
Usually acuity is not affected

Peripapillary atrophy
Often occurs due to development of inadequate blood supply
Often occurs in glaucoma
Hallmark of presumed ocular histoplasmosis:
a. Histospots
b. Maculopathy
c. Peripapillary atrophy (ON affected)

OPTIC NEURITIS
Def
Inflammatory or demyelinating DO of ON
Classificatio
With ophthalmoscopy
n
1. Retrobulbar optic neuritis:
- Normal ONH and retinal fibre layer
- Most common
- Associated with demyelination
2. Papillitis
- Disc swelling, obliteration of cup and vitreous cells
- May have haemorrhages on or around disc
- More common in children
3. Neuroretinitis
- Has optic papillitis and macular star
- Least common and rarely with demyelination
Other
Ischaemic
Due to microvascular occlusion of ONH
Types: arteritic, non-arteritic, auto-immune
Hereditary
Optic neuropathy inherited
Toxic
Nutritional or drug induced
Vit B deficiency in alcoholics, anaemia,
chloramphenicol
Granulomat
As in sarcoidosis
ous
Associated
1. Diabetic neuropathy
systemic
2. Exophthalmic thyroid disease
diseases
3. Severe haemorrhage
4. Lactation
5. Infections
6. MS
7. Herpes zoster ophthalmicus
8. Criptococcus meningitis in AIDS
If ON is
VA affected
affected
colour vision probs, specifically red
Central scotomas

Test
Aetiology

Red cap test

RAPD (visual pathway to brain
Demyelination
Infectious causes: syphilis mononucleosis autoimmune lung
cancer

1. Retrobulbar
Def

Presentatio

n
S+S

Tx

Complicatio
n

2. Papillitis
Def

S+S
1.
2.
3.
4.
5.
6.
7.
8.
9.

optic neuritis
Inflammation affects ON behind disc
Ophthalmoscope picture is normal although optic atrophy may follow
Pain on movement of eye (proximity of SR and MR on ON)
Tenderness on palpation
Central scotoma
VA loss
If causative agent is removed, or if this is a part of demyelination
process due to inflammation which runs its course > complete
recovery in 2-6 weeks
Optic atropohy of papillomacular bundle remains
Poor VA

Inflammation involves intraocular portion of ON

Hyperaemia and oedema of disc
Central VA loss and central scotoma
Disc appears smaller than normal (due to diminished contrast with
surrounding retina)
DM obscured
Dilation of retinal veins
Obliteration of physiological cup
Flame shaped haem at disc surface and adjacent retina
Severe inflame > retinal deposits grouped around fovea > oval
pattern
Secondary atrophy may develop

3. Neuroretinitis
- Retina and disc involved

ANTERIOR ISCHAEMIC OPTIC NEUROPATHY (AION)

Def
Common cause of severe visual loss in middle aged and elderly
Physiology
Basic lesion is segmental or generalized infarction of ON caused by
occlusion of short posterior ciliary arteries
Aetiology
Atherosclerosis (most common idiopathic or non-arteritic form)
Giant cell arteritis (second most common and causes arteritic type)
Collagen vascular DO (Polyarteritis nodosa, SLE are occasional
causes in px under 50y)
Types
Idiopathic/nonarteritic
Arteritic
Non-arteritic
Epidemiolog
y

Associations

Systemic
signs of
giant cell
arteritis
S+S

1.
2.
3.
4.
5.
6.
7.
8.

Classic
presentatio
n
Tx

1.
2.
3.
4.

Typically as isolated event

45-65 healthy px
Hypertension is only sign of systemic vascular disease
No risk of early death
DM besides hypotension > sudden hypotensive event
Renal disease
All CT disorders (EG Lupus)
Major association in older px > arteritic form of giant cell arteritis
Jaw, ear or scalp pain
Malaise
Weight loss
High ESR
Sudden painless monocular VF loss unassociated with transient
visual symptoms
Bilateral involvement rare > 1/3 develop AION in other eye several
months later
1/3 px have normal VA and 2/3 moderate too severe impairment VA
Altitudinal hemianopia more commonly of inferior field > may have
arcuate field defects or occasionally central scotoma if infarction of
papillomacular bundle occurs
Equal colour vision loss proportional to VA loss
Diffuse or sectional oedema of ON on ophthalmoscopy in acute
stages with pale OD surrounded by splinter haem
Fellow eye has small or absent optic cup
In 1-2 months > oedema subsides and involved portion of ON
becomes pale but not cupped
Sudden vision loss
Diminished CV
APD
Altitudinal or arcuate field defect
None > vital to exclude probability of this being arteritic AION
(idiopathic)
If related to infection, give steroids

Arteritic AION/temporal arteritis

Epidemiolog
60+
y
Aetiology
Giant cell arteritis systemic vascular inflammatory disease
Clinical
Any artery may be involved
presentatio
Disease has predilection for large and medium sized vessels
n
Specifically superficial temporal arteries, ophthalmic, posterior
ciliary and proximal part of vertebral arteries involved
Chronic granulomatous inflammation occurs > constricts lumen of
vessel and involves all layers of arterial wall
Correlation between amount of elastic tissue in artery and severity
of disease
Thus intracranial arteries with little elastic tissue rarely involved
Ocular
Visual loss not reversible even with systemic steroids
presentatio
Immediate steroid therapy recommended to protect vision in
n
remaining eye and reduce further occlusion
Some patients will lose vision in second eye despite steroids
S+S
1. Affects 25% of patients with untreated giant cell arteritis
2. Sudden visual loss > profound and usually permanent (first few
weeks of disease; rare after first 9 months)
3. Visual loss accompanied by periocular pain and preceded by
transient visual symptoms > amaurosis fugax and/or flashing lights
4. CF VA and VF profoundly impaired
5. Simultaneous involvement rare > 65% of patients develop AION in
second eye within weeks
6. Ophthalmoscopy:
Acute = swollen white/pale disc associated with flame shaped
haemorrhages
1-2months = pale and cupped disc
Retrobulbar process (posterior ION) = normal disc until atrophy
ensues
Depends on which vessel is involved and symptoms presented
Other
1. Amaurosis fugax ophthalmic
manifestatio
2. Central retinal artery occlusion ophthalmic
ns of GCA
3. CWS ophthalmic
4. Anterior segment necrosis temporal arteries/ophthalmic
5. Oculomotor palsies temporal arteries/ophthalmic
6. Cortical blindness
Systemic
1. Fatigue
features
2. Scalp tenderness (differentiating feature > people wont like
combing their hair)
3. Jaw claudication (pain or chewing)
4. Headache
5. Polymyalgia rheumatic
6. Weight loss, night sweats, fever, malaise
Treatment
Steroids

Lebers optic neuropathy

Aetiology
Insertion mutation in maternal mitochondrial DNA
Clinical
Rare hereditary DO primarily affecting healthy young men
features
15% patients females
Affected men cannot pass disease to offspring > only women can
Sx
Visual loss = monocular, acute, painless, progressive, permanent
Significant improvement rare
Becomes bilateral within weeks or months
Signs
Acute stage > optic disc mildly hyperaemic and swollen+ irregular
dilation of pre- and peri-papillary capillaries (telangiectatic
microangiopathy)
No leakage of Fl from telangiectaticc vessels
Retinal NF around disc = glistening appearance
Centro-caecal scotoma gradually enlarges and becomes absolute
Late stage > VA CF due to severe optic atrophy
Pupillary light reactions frequently remain fairly brisk despite severe
visual loss
Tx
Recognize early
Save px from unnecessary investigations
monitor
Diabetic papillopathy
Epidemiolog
Type 1 diabetics 20-30
y
Presentatio
Distinct clinical entity that should be distinguished from AION,
n
papilloedema and papillitis
Clinical
Binocular 75%
features
Mild to moderate visual loss > usually recovers spontaneously in 6
months
Examination:
1. Disc swelling
2. Capillary telangiectasias
3. NF haemorrhage
4. Exudates
5. Cystoid macular oedema (with or without macular star)
No correlation between ophthalmoscopic findings and initial/final VA
Mx/Tx
No specific Tx
Good diabetic control

Papilloedema
Pathogenesi
s

ON is surrounded by meningeal sheath of brain

Increased intracranial pressure may be transmitted to subarachnoid
space surrounding ON
Combination of increased pressure in central retinal vein + venous
damage of disc + possible blockage of axonal transport at lamina
cribrosa > passive oedema of ON and disc (doesnt interfere with VA
in early development)

Axoplasmic transport:
ON have axons that lack ability to synthesize protein
Protein is synthesized in nerve cell body > reaches axons by
specialized form off cytoplasmic motility (axoplasmic transport/flow)
Papilloedema is associated with obstruction of axoplasmic flow, but
it may be primary/secondary to disc oedema
P is not always due to intracranial pressure:
Subarachnoid space surrounding ON may not be in free
communication with intracranial subarachnoid space
If there is block in brain stem, patient may show low pressure on
lumbar puncture, but still have papilloedema
May also occur in blood dyscrasias and in hhypertensive
cardiovascular disease
CSF
Produced in lateral ventricles + third ventricle
Flows through Aqueduct of Sylvius to fourth ventricle and down
central canal of SC
CSF flows around cord and back up through foramen magnum over
cerebral hemisphere, then absorbed through arachnoid villi into
cerebral venous drainage system
Intracranial
Blockage of ventricular system directly by congenital lesions
pressure aet
Blockage of ventricular system by acquired lesions
(tumours/subarachnoid haemorrhage)
Obstruction of CSF absorption through arachnoid villi by blockage of
villi with blood/protein/obstruction of cerebral venous drainage
system
S+S
1. Bilateral
2. VA not affected in early development ( if it persists, VA drops)
3. Begins at superior and inferior disc margins, then nasal, last
temporal (SINT)
4. Physiological cup obliterated
5. Central vessels on disc displaced forward
6. Retinal vessels markedly dilated + loss of spontaneous or induced
venous pulsation
7. Swollen disc displaces sensory retina > enlargement of blind spot
with perimetry
8. Haemorrhages on disc surface + retinal NL > may break into
vitreous
9. FA > leakage of vessel on disc
Tx
Must be directed to cause


Clinical
features of
raised IOP

Persistent papilloedema associated with secondary optic atrophy

and loss of VA
1. Sudden nausea and vomiting > may vary from drowsiness to slight
loss of consciousness
2. Severe HA (refer if px has HA and ON swelling)
3. Worsens during day

Optic atrophy
Def

Pathogenes
is
S+S

Causes

End result of diseases or injuries to ON > loss of axon cylinders and

myelin sheaths
PIA septa widen to compensate for loss and gliosis with proliferation
of astrocytes > pale disc
Associated loss in VF and VA
Chief Sx = loss of central or peripheral vision
Ascending OA terminating in LGB = lesion causing optic atrophy in
retina
Descending OA = lesion is anterior to LGB
1. Glaucoma
2. Retinal
Pigmentary degen of retina
ganglion cell
Chorioret degen + inflam + atrophy
or NF disease
3. Inflammation
Demyelinating disease
Meningitis + encephalitis + abscess
Tabes dorsalis
Optic neuritis
Metastatic septicaemia
4. Ischaemia
Arterial occlusive disease (retina, disc, nerve/
tract)
a. Arteriosclerosis
b. Giant cell arteritis
c. SLE
Blood loss
Normotensive/low tension glaucoma
5. After papillo

6. Toxicity
Chemical: (arsenic lead methanol
ethanol quinine tobacco chloroquine
ethambutol - chloramphenicol)
Vitamin B deficiency (beriberi pellagra
pernicious anaemia)
7. Nerve
Juvenile pilocytic astrocytoma (giloma)
tumours
8. Compression
Tumours (neoplasm aneurysm)
Bony overgrowth (Pagets disease
craniosynostosis)
Adhesions (Opticochiasmic arachnoiditis)
9. Heredity
Lebers disease
Conggenital disease
Behr disease
Glucose 6 phosphate dehydrogenase
deficiency Worcester varient

Primary OA
No evidence of preceding oedema or
inflammation
Mainly caused by glaucoma
Disc margins distinct

Secondary OA
Preceded by swelling of disc
(papilloedema/papillitis)

Number of NF bundles in On reduced >

rearrangement of remaining disc astrocytes
occurs into dense parallel layers across
ONH
Capillaries seem to be lost, but may be
demonstrated with FA
Atrophy may be complete or partial
Ophthalmoscopic appearance doesnt
parallel severity of FV loss

Lamina cribrosa obscured + gliosis over

surface of disc extending to retina

Ophthalmoscopically > DM appear blind

Blood vessels may be obscured and their

course distorted by scar tissue
Essential ophthalmoscopic features of OA >
alterations in colour of disc + changes in
BV
Disc is always pale, but may show varieties
of pallor associated with different causes of
atrophy
Pallor affects whole disc > not due to
atrophy but oss of vascularity due to
obliteration of vessels
Poor guide to visual capacity