1. CONGENITAL OPTIC NERVE ANOMALIES
1. Without systemic associations
Tilted optic disc
Optic disc drusen
Optic disc pit
Myelinated nerve fibres
2. With systemic associations
Optic disc coloboma
Morning glory anomaly
Optic nerve hypoplasia
Aicardi syndrome
Megalopapilla
Peripapillary staphyloma
Optic disc dysplasia

2. Tilted disc Common, bilateral Superotemporal field defects
Frequent myopia and astigmatism
VA - normal
Small disc, oval or D-shaped
Axis oblique (most common),
horizontal or vertical
Situs inversus and inferior crescent
Hypopigmented inferonasal fundus
Superotemporal field defects
not obeying vertical midline

3. Optic disc drusen Buried drusen Uncommon, bilateral and familial
Associations - RP, angioid streaks and Alagille syndrome
VA - usually normal
Buried drusen
Absent optic cup
Pink or yellow colour
Indistinct ‘lumpy’ margins
Anomalous branching patterns
with premature branching
Absent venous engorgement

4. Optic disc drusen Exposed Occasional complications
Emergence from disc surface during
early ‘teens’
Waxy pearl-like irregularities
Choroidal neovascularization
Nerve fibre bundle defects

5. FA of optic disc drusen Autofluorescence prior to dye injection
Late hyperfluorescence confined to disc

6. Imaging of optic disc drusen
Ultrasonography CT

7. Optic disc pit Uncommon, usually unilateral
VA - normal if uncomplicated
Large disc containing round or oval pit
Pit is usually temporal, occasionally central

8. Optic disc pit and macular detachment
Incidence - 45% of non-central pits
Initially - schisis-like separation of inner layers
Later - serous detachment of outer layers
Treatment
Laser photocoagulation to temporal disc
Vitrectomy and gas tamponade if unresponsive

9. Myelinated nerve fibres
Extensive
Isolated peripheral
Peripapillary

10. Optic disc coloboma Rare, unilateral or bilateral
Usually sporadic - occasionally dominant
VA - decreased
Signs
Ocular associations
Large disc with inferior excavation
May be associated with other colobomas
Superior visual field defects

11. Occasional Systemic Associations of
Optic Disc Coloboma
1. CNS malformation - basal encephalocele and cysts
2. Chromosomal anomalies - Patau syndrome (trisomy 13) and
cat-eye syndrome (trisomy 22)
3. ‘CHARGE’ - Coloboma, Heart defects, choanal Atresia,
Retarded development, Genital and Ear anomalies
4. Other syndromes - Meckel-Gruber, Goltz, Lenz microphthalmos,
Walker-Warburg and Goldenhar

12. Morning glory anomaly Very rare, usually unilateral VA - decreased
Occasional association
Large disc with funnel-shaped excavation
Basal encephalocele which is
frequently associated with mid-
facial anomalies
Glial tissue within base
Spoke-like emerging vessels
Surrounding chorioretinal pigmentary
disturbance
Serous retinal detachment in about 30%

13. Optic nerve hypoplasia
Rare, unilateral or bilateral
VA - variable according to severity
Occasional association
Small disc surrounded by halo (double
ring sign)
De Morsier syndrome (septo-optic
dysplasia)
Absence of septum pellucidum and
corpus callosum
Vessel normal calibre but may be tortuous

14. Aicardi syndrome Very rare
X-linked dominant which is lethal in utero for males
Infantile spasms
Developmental delay
CNS malformations and early demise
Multiple ‘chorioretinal lacunae’
Disc coloboma and pigmentation

15. Miscellaneous congenital disc anomalies
Megalopapilla
Peripapillary staphyloma
Optic disc dysplasia
Horizontal and vertical
disc diameters over 2 mm
Relatively normal disc within
deep peripapillary excavation
Marked non-specific disc
deformity