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CONGENITAL OPTIC NERVE ANOMALIES

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

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CONGENITAL OPTIC NERVE ANOMALIES

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  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 • 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 • 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 Isolated peripheral Extensive 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

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