Week 1: Congenital Anomalies of the Posterior eye PART 2
Growth defects
A child with Optic nerve hypoplasia should be monitored carefully for what?
Optic nerve hypoplasia
A congenital condition characterized by failure of the optic nerve to completely develop, and possibly resulting in optic nerve atrophy over time.
Retinopathy of prematurity
A retinal vascular disorder that affects severely premature babies. Results from incomplete peripheral vascularization at birth followed by abnormal vascularization in the subsequent weeks to months. In premature infants retinal vascularisation is not complete at birth, increased oxygen levels after birth reduces production of VEGF and vessel migration stops. • This leads to a hypoxic retina which stimulates excessive VEGF production leading to ROP
optic nerve hypoplasia
A small disc, with the patient having anything from normal vision to complete blindness.
de Morsier's syndrome
Also known as septo-optic dysplasia, a lack of the septum pellucidum and pituitary gland dysfunction. Can accompany optic nerve hypoplasia.
malinserted/obliquely inserted disc
Caused by oblique entry of optic nerve through scleral canal. Raised nasal aspect of disc with downward tilt of temporal aspect. Often temporal scleral crescent. Usually present in myopic eyes (particularly high myopes). "Pseudo-papilloedema" (due to partially raised appearance of disc)
Optic disc pit
Characterised by a pale, round or oval pit in the disc tissue (usually present in temporal disc). • May be pale, yellowish or gray
Optic nerve head coloboma
Congenital, non-progressive malformation of disc
Optic nerve head coloboma
Congenital, non-progressive malformation of disc (Unilateral or bilateral) Optic disc appears very large and white. Upper portion of disc appears pink • Excavation of inferior portion of disc Retinal vessels frequently emerge from inferior aspect of disc like spokes of a bicycle wheel. Peripapillary pigmentation is common
MegaloPapilla
Describes any nerve head that is larger than fellow (normal) eye. A benign non-progressive anomaly
MegaloPapilla
Describes any nerve head that is larger than fellow (normal) eye. A benign non-progressive anomaly. Diagnosis once other causes of enlarged discs ruled out.
Morning glory disc
Disc is large with a funnel-shaped central core of pale glial tissue.
Morning glory disc
Disc is large with a funnel-shaped central core of pale glial tissue. Disc margins raised, and surrounded by an elevated pigment ring. Numerous straight blood vessels emerge from the perimeter of the excavation.
Retinopathy of prematurity
Five clinical stages for what condition are used to describe the abnormal vascular response at the junction of immature avascular peripheral retina from the vascularized posterior retina?
a
In Optic Disc Pit, the disc in the affected eye is... a) larger b) smaller
a
In Optic Disc Pit, the disc is larger in the... a) affected eye b) normal eye
b
In Optic nerve head coloboma, retinal vessels frequently emerge from... a) superior aspect of disc like spokes of a bicycle wheel b) inferior aspect of disc like spokes of a bicycle wheel
amblyopia, strabismus, RAPD
In Optic nerve hypoplasia, unilateral cases may present in childhood with..?
Visual field loss, colour vision loss, nystagmus
In Optic nerve hypoplasia, what may be accompanied/present?
b
In Optic nerve hypoplasia... a) Disc is large b) Disc is small
a
In Optic nerve hypoplasia... a) retinal vessels usually of normal calibre b) retinal vessels are usually large
retinal detachment, blindness (in the most advanced cases)
In Retinopathy of prematurity, abnormal proliferation of blood vessels can lead to fibrovascular networks that exert traction on the retina and may progress to?
c
In optic nerve head coloboma... a) Vision may be normal b) Can have very poor vision c) Either
a
MegaloPapilla describes any nerve head that is... a) larger than fellow (normal) eye b) smaller than fellow (normal) eye
a
MegaloPapilla is a... a) benign non-progressive anomaly b) malignant progressive anomaly
cranio-facial anomalies
Morning glory disc can be associated with?
a
Morning glory disc can have an increased risk of retinal detachment... what is the probability? a) over 1/3rd of cases b) over 2/3rds of cases c) all cases will eventually have retinal detachment
retinal detachment (over 1/3rd of cases)
Morning glory disc can have an increased risk of what?
pale glial tissue
Morning glory disc is a large disc with a funnel-shaped central core of what?
a
Morning glory disc is usually a... a) unilateral condition b) bilateral condition
Morning glory disc
Numerous straight blood vessels emerge from the perimeter of the excavation. What is this?
Optic nerve hypoplasia
ONH 1/3 to 1/2 size of normal ONH
temporal pits and larger pits
Optic Disc Pit gives the potential for serous detachment of the macula. It is more common with what kid of pits?
b
Optic Disc Pit gives the potential for serous detachment of the macula. It is more common with what kid of pits? a) nasal pits b) temporal pits
b
Optic Disc Pit gives the potential for serous detachment of the macula. It is more common with what kid of pits? a) smaller pits b) larger pits
metamorphopsia, micropsia, blurred vision
Optic Disc Pit gives the potential for serous detachment of the macula. It results in...? • Usually happens in 30s and 40s, and more common with temporal pits and larger pits • Prognosis with serous detachment is poor, and can cause severe central vision loss
30s and 40s
Optic Disc Pit gives the potential for serous detachment of the macula. usually happens at what age?
serous detachment of the macula
Optic Disc Pit has the potential for what? • Usually happens in 30s and 40s, and more common with temporal pits and larger pits • Prognosis is poor, and can cause severe central vision loss
neuroretinal rim tissue
Optic Disc Pit is associated with arcuate visual field defects (60% of cases) when what is affected?
arcuate visual field defects (60% of cases)
Optic Disc Pit is associated with what visual field defect 60% of the time when neuroretinal rim tissue is affected?
cilio-retinal artery, peripapillary atrophy
Optic Disc Pit is often associated with the presence of what hallmarks?
a
Optic Disc Pit is usually a... a) unilateral condition b) bilateral condition
a
Optic Disc Pit is usually... a) asymptomatic b) symptomatic (reduced vision)
degenerative complications
Optic Disc Pit may be associated with?
Optic nerve head coloboma
Optic disc appears very large and white Upper portion of disc appears pink • Excavation of inferior portion of disc what could this be?
b
Optic disc pit is Characterised by a pale, round or oval pit in the disc tissue. Is is usually present in... a) nasal disc b) temporal disc
c
Optic nerve head coloboma is a) Unilateral b) Bilateral c) Either
lack of the septum pellucidum, pituitary gland dysfunction (aka de Morsier's syndrome)
Optic nerve hypoplasia can be associated with midline defects such as septo-optic dysplasia, which is?
double ring sign
Optic nerve hypoplasia is often surrounded by yellowish-white zone that may have some variable pigmentation, this is known as?
absent or reduced nerve fibre layer, decrease in ganglion cells
Optic nerve hypoplasia is the reduced size of disc due to what?
ganglion cell layer
Optic nerve hypoplasia is thought to be due to failure of development of _______________ from interruption in foetal development in which first trimester.
a
Optic nerve hypoplasia is thought to be due to failure of development of ganglion cell layer from interruption in foetal development in which trimester? a) first trimester b) second trimester c) third trimester
superior arcuate visual field defect, superior arcuate
Patients with optic nerve head coloboma typically have what visual field defect?
Optic nerve head coloboma
Peripapillary pigmentation is common in what?
an especially aggressive form of ischemic disease with poor prognosis
Plus Disease can be seen in ROP and is characterised by arteriolar tortuosity and venous engorgement in the posterior pole and indicates what?
arteriolar tortuosity, venous engorgement in the posterior pole
Plus Disease can be seen in ROP and is characterised by?
b
Plus Disease can be seen in ROP and is characterized by arteriolar tortuosity and venous engorgement in the posterior pole and indicates an especially aggressive form of ischemic disease with... a) a good prognosis. b) a poor prognosis.
High myopia, reduced vision, Retinal folds, Dragging of the retina and disc, Fibrovascular proliferation, Retinal detachment, Retrolental mass (retrolental fibroplasia - a cause of white pupil/pseudoglioma).
Potential cicatricial complications of Retinopathy of prematurity include?
a
Prognosis with serous detachment is poor, and can cause severe _______________. a) central vision loss b) peripheral vision loss
severe central vision loss
Prognosis with serous detachment is poor, and can cause what type of vision loss?
b
Prognosis with serous detachment is... a) good b) poor
Morning glory disc
Rare, congenital disc anomaly (coloboma variant). Disc is large with a funnel-shaped central core of pale glial tissue. • Disc margins raised, and surrounded by an elevated pigment ring • Numerous straight blood vessels emerge from the perimeter of the excavation
Optic nerve hypoplasia
Reduced size of disc due to absent or reduced NFL and corresponding decrease in ganglion cells
1500 grams, especially under 1250 grams
Retinopathy of prematurity can occur in premature infants with a low birthweight that is less than how many grams?
severely premature babies
Retinopathy of prematurity is a retinal vascular disorder that affects what group of patients?
location of retina involved (Zone 1, Zone 2, Zone 3)
Retinopathy of prematurity is classified according to what?
32 weeks
Retinopathy of prematurity occurs in premature infants of short gestation, less than how many weeks?
Stage 1
Retinopathy of prematurity: what stage is this?
Stage 2
Retinopathy of prematurity: what stage is this?
Stage 3
Retinopathy of prematurity: what stage is this?
Stage 2
Retinopathy of prematurity: what stage is this? Characterised by a ridge developing between the vascularised and non-vascularised retina.
Stage 3
Retinopathy of prematurity: what stage is this? Characterised by a ridge with extra retinal fibrovascular proliferation (retinal and vitreous haemorrhage may occur.
Stage 4
Retinopathy of prematurity: what stage is this? Partial retinal detachment.
Stage 1
Retinopathy of prematurity: what stage is this? Thin demarcation line between vascularised and non-vascularised retina.
Stage 5
Retinopathy of prematurity: what stage is this? Total retinal detachment.
Aniridia, Midline defects, septo-optic dysplasia (a lack of the septum pellucidum pituitary gland dysfunction aka de Morsier's syndrome)
The potential associations with Optic nerve hypoplasia include?
stage 3 and greater, ≥ Stage 3
The treatment for Retinopathy of prematurity occurs in more severe cases which are what stages?
optic nerve head coloboma (superior arcuate visual field defect)
This type of field defect is present in what congenital condition?
choroidal neovascularization
Tilted Disc has a very rare association with what?
oblique myopic astigmatism
Tilted Disc has an association with what refractive error?
b
Tilted Disc has... a) typical temporal crescent b) Infero-nasal crescent
b
Tilted Disc is 75%... a) unilateral b) bilateral
oblique myopic astigmatism, choroidal neovascularization (rare), superior bitemporal visual field defect,
Tilted Disc is associated with what signs/symptoms?
b
Tilted Disc is more likely to be... a) unilateral b) bilateral
inferonasal aspect
Tilted Disc is usually tilted towards what aspect?
foetal fissure
Tilted Disc may be a variation of imperfect closure of what?
b
Tilted Disc may be associated with superior bitemporal visual field defect. Which of the following is true? a) does respect the vertical midline b) doesn't respect the vertical midline
superior bitemporal visual field defect (Doesn't respect vertical midline compared to chiasmal defects)
Tilted Disc may be associated with what type of visual field defect?
Tilted Disc
Tilting of vertical aspect of disc along with a horizontal tilting. Disc appears small and oval, "stirrup" shaped, or "D" shaped. Situs inversus - inverted origin of retinal vessels (the temporal vessels deviate nasally before turning temporally)
Optic nerve hypoplasia
Unilateral cases may present in childhood with amblyopia, strabismus and an RAPD. Visual field and colour vision loss, and nystagmus may be present. what is this condition?
Retinal vessels
What frequently emerge from inferior aspect of disc like spokes of a bicycle wheel in Optic nerve head coloboma?
Retrolental mass (retrolental fibroplasia)
What is a potential cicatricial complication of Retinopathy of prematurity that causes a white pupil or pseudoglioma?
poor, can cause severe central vision loss
What is the Prognosis with serous detachment?
Tilted Disc
What is this?
malinserted/obliquely inserted discs
What is this?
optic nerve head coloboma
What is this?
MegaloPapilla
What is this? causes of enlarged discs ruled out.
Optic nerve hypoplasia
What is thought to be due to failure of development of ganglion cell layer from interruption in foetal development in first trimester?
optic nerve head coloboma
What may be associated with facial and intracranial anomalies? e.g. clefting deformities, basal encephalocele
Peripapillary pigmentation
What pigmentation is common in Optic nerve head coloboma?
superior arcuate visual field defect, superior arcuate
What type of field defect is this?
septo-optic dysplasia, de Morsier's syndrome
a lack of the septum pellucidum and pituitary gland dysfunction. Can accompany optic nerve hypoplasia.
Plus Disease
characterized by arteriolar tortuosity and venous engorgement in the posterior pole and indicates an especially aggressive form of ischemic disease with a poor prognosis. Seen in ROP
b
in Morning glory disc, which of there following is true? a) Vision of affected eye usually normal b) Vision of affected eye usually poor
1/3 to 1/2 the size of normal ONH
in Optic nerve hypoplasia, the ONH is what size in comparison to the size of normal ONH?
a
in Tilted Disc is usually... a) asymptomatic and stable b) symptomatic and unstable
a
in Tilted Disc... a) visual acuity usually normal b) visual acuity usually reduced
Situs inversus
inverted origin of retinal vessels, the temporal vessels deviate nasally before turning temporally
scleral canal
malinserted/obliquely inserted disc is caused by oblique entry of optic nerve through what?
oblique entry of optic nerve through scleral canal
malinserted/obliquely inserted disc is caused by what?
myopic eyes, particularly high myopes
malinserted/obliquely inserted disc is usually present in patients with what refractive error?
Pseudo-papilloedema
malinserted/obliquely inserted discs are known as? due to partially raised appearance of disc
facial anomalies, intracranial anomalies, clefting deformities, basal encephalocele
optic nerve head coloboma may be associated with what anomalies?
clefting deformities, basal encephalocele
optic nerve head coloboma may be associated with what facial and intracranial anomalies?
cocaine, alcohol
what are example drugs taken in pregnancy in that are environmental causes of optic nerve hypoplasia?
drug taking in pregnancy (cocaine, alcohol), maternal diabetes
what are the environmental causes of Optic nerve hypoplasia?
hyperoxygenation of premature infants, short gestation period (<32 weeks), birth weight of less than 1500 grams (especially under 1250g)
what are the factors involved in the formation of Retinopathy of prematurity?
Situs inversus, infero-nasal fundus ectasia, depigmentation, Infero-nasal crescent
what hallmarks may be present in Tilted Disc?
Optic Disc Pit
what is associated with arcuate visual field defects (60% of cases), when neuroretinal rim tissue is affected?
born <36 weeks, <1500g at birth, those who received oxygen
what is considered a baby at risk of Retinopathy of prematurity?
Referral to retinal specialist
what is the management for Optic Disc Pit if serous detachment is present?
Close review (12/12), give take-home Amsler grid, Referral to retinal specialist if serous detachment
what is the management for Optic Disc Pit?
Careful retinal examination, Advice regarding avoidance of contact sport, wearing of eye protection
what is the management of Morning glory disc?
Referral for systemic investigation (No available treatment)
what is the management of Optic nerve hypoplasia?
regularly screened for signs of ROP, retinal examinations
what is the management of Retinopathy of prematurity for all at risk babies that are born <36 weeks, <1500g at birth, those who received oxygen?
All at risk babies (<36 weeks, <1500g at birth, those who received oxygen) need to be regularly screened for signs of ROP, retinal examinations, Treatment of more severe disease (≥ Stage 3) with laser photocoagulation, anti-VEGF treatment
what is the management of Retinopathy of prematurity?
Generally no need for referral, visual fields (to establish baseline and quantify any field defect present)
what is the management of a Tilted Disc?
laser photocoagulation, anti-VEGF treatment
what is the treatment for more severe Retinopathy of prematurity (≥ Stage 3)?
Amsler grid
what is this?
Morning glory disc
what is this?
Optic Disc Pit
what is this?
Optic nerve hypoplasia
what is this?
Tilted Disc
what is this?
optic nerve head coloboma
what is this?
80%, 80
what percent of Optic Disc Pits are unilateral?
75%, 75
what percent of Tilted Disc cases are bilateral?