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28 Cards in this Set

  • Front
  • Back

What are the congenital optic nerve anomalies with neurological defects?

Optic disc coloboma


Morning glory syndrome


Optic nerve head pit


Optic nerve hypoplasia


Optic disc drusen

What are the congenital optic nerve anomalies without neurological defect?

Tilted disc


Myelinated verve fibres


Bergmaster’s papillae


•Glial tissue

What is an optic disc coloboma?

Failure of fetal cleft to close


Maybe unilateral or bilateral


Sporadic


Autosomal dominant


Part of a systemic disorder

What are the signs of an optic disc coloboma?

Reduced visual acuity, amblyopia and refractive error


Enlarged disc


Excavation of inferior optic disc


Inferior neural rim this or absent


Wedge of superior neural tissue


Superior visual field defect


Associated with


- microphthalmos


- coloboma of iris, ciliary body, chorioretina


May be mistaken for glaucoma

What is the management for an optic disc coloboma?

Congenital abnormality


- history or “problem with eye”


- monitor visual field defect


- in children do not conduct occlusion therapy


Ensure no associated glaucomatous changes


- normal IOP


- reduced visual acuity


- non- progressive visual field defect


- enlarged optic nerve head


Inform G.P and patient


- refer routinely if diagnosis uncertain

What are the complications of an optic disc coloboma?

Serous retinal macula detachment (soon referral)


Progressive visual field loss associated with neural retinal thinning (routine referral)


Rhetagamous retinal detachment (urgent referral)

Describe morning glory syndrome

Visual acuity variable


Variant of Coloboma


Very rare; usually unilateral, bilateral even rarer


Central core of glial tissue; persistent hyaloid artery remains


Elevated annulus of pigmentary choroidal tissue


Blood vessels radiate from disc centre


Disc lies posterior to globe

What are the complications of morning glory syndrome?

30% develop serous retinal detachments


High incidence of strabismus

What is the management for morning glory syndrome?

Have probably already been investigated and diagnosed; no referral required


If not previously investigated; refer

What is an optic disc pit?

V/A usually normal- unless papillomacular nerve fibres affected or complications present


Usually unilateral (10-15% bilateral)


Disc bigger than normal


Greyish oval or round pit temporally


Presents with V/A loss ~ 30 years- central serous maculopathy

What are the signs of an optic pit?

Associated with arcuate scotomas


- Usually superiorly


- Absence of retinal ganglion


Seen as round or oval excavations within the optic nerve head 1/3 DD in size


- Up to 25D deep


- Pigmentation variable


Located temporally 80% or centrally 20%


Unilateral possibly multi focal


Atypical colobomas of the optic disc


Associated with


- high incidence of serous retinal detachment of the macula


- inferior colobomas

What is the management of an optic pit?

If previously investigated do not refer


- educate patient


- regular amsler testing


If not previously investigated


- refer routinely


- educate patient


Refer soon if presenting with recently reduced visual acuity

What is the ophthalmological treatment for an optic pit?

Observation for spontaneous resolution


Laser may be considered if vision is deteriorating; success rate is 25-35%


Vitrectomy with air- fluid exchange and postoperative prone positioning

Describe an optic nerve hypoplasia

Commonest optic nerve anomaly


Hypoplasia= underdevelopment of tissue or organ


Unilateral or bilateral


Isolated disorder or associated with malformed eye or anomalies of the mid- line structure of the the brain


Small discs fewer axons


- normal amount of supporting tissue

What are the signs of an optic nerve hypoplasia?

May present with


- poor visual acuity


- strabismus


- visual field defect


- other systemic neurological defects


- congenital nystagmus


• if condition severe


Small grey disc- often goes undetected


Double ring sign- white ring of visible sclera surrounding a pigmented band consist of pigment epithelium


Vessels are tortuous


May be segmental

What is the management for an optic disc hypoplasia?

Association with astigmatism


Correct refractive errors to avoid amblyopia


Refer if not already been investigated- May have systemic associations

What is optic disc drusen?

Axonal metabolic products


Buried in optic nerve head


Affects 2% of the population


75% bilateral


Usually asymptomatic; transient blurring


Can be sporadic or AD inheritance


Primarily affects female Caucasians

What are the signs of optic disc drusen?

Retinal nerve fibre thinning


Visual field defects; drusen compress RNFL, variable, progressive, rare for substantial impact on visual function , no treatment available


Other family members may have drusen or anomalous vessels on disc and no cup


Drusen absent in first 10 years of life- drusen appears in second decade of life


Irregular disc margin


Waxy pearl like irregularities


Small discs


Absence of optic disc


Anomalous vessels


Spontaneous venous pulsation present in 80% cases

What is spontaneous venous pulsation?

Presents in 80-90% of the normal population


Vein on surface of disc is seen to collapse and then dilate in rhythm with cardiac cycle; may be subtle


Disappears if intracranial pressure is elevated

What are the optic disc drusen associations?

Juxtapupillary neovascularisation


Arcuate and nasal step visual field defects

What is the management of optic disc drusen?

Refer urgently if diagnosis uncertain


- ultrasonography: detects calcific deposits as shadows


- OCT: shows retinal nerve fibre thinning


- Fluorescein angiography: autofluorescence prior to injection

Describe tilted disc

Common


Bilateral


Oblique entry of optic nerve into globe


Associated with myopic astigmatism


Secondary glaucomatous changes easily overlooked


Inferior temporal margin thin

What are the signs of tilted disc?

Small oval or D shaped disc


Indistinct disc margins


Inferior crescent of hyperpigmentation


Situs inverses


Hypoplasia of RPE in inferior nasal retina

What is the management for tilted disc?

Non- progressive condition


No treatment possible


Referral not required


- inform patient and G.P


- monitor visual fields


May be associated with choroidal neovascularisation and sensory macula detachment

What are the associations with Hyperopic eyes?

Anomalies associated with axial length: small Hyperopic eyes have crowded full discs


- can also look like papilloedema; absence of: dilated capillaries, haemorrhages

What are the associations with myopic eyes?

Large myopic eyes


Peripapillary atrophy


Temporal crescents


Increased visualisation of choroidal vessels

What are the signs of myelinated nerve fibres?

Asymptomatic usually: grossly affected eyes may have poor vision.


Myelination of nerve fibres continues on to fundus: normally stops at lamina cribrosa


Produces corresponding visual field defect.


Recognisable by feathery margins of leading edge.


No referral required.

Describe glial tissue

Hyaloid artery remains of vitreous condensations


Remnants may be seen on posterior lens surface


Bermaster’s Papillae