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Optic Disc Abnormalities and their presentations
- 1. Optic Disc Abnormalities: PRESENTER;JUMA PAUL MODULATOR; DR AMPAIRE.
- 2. Outline Introduction Opticdisc anomalies References
- 3. Introduction The opticnerve disc Intraocular portion of the optic nerve clinically visible on examination • usually round or slightly oval in shape. • The disc has an orange-pink rim with a pale center • The pale center is devoid of neuroretinal tissue and is called the cup. • The tissue between the cup and the disc margin is called the neural rim or neuroretinal rim • The size of the physiologic cup is developmentally determined and is related to the size of the disc.
- 4. Zones of opticdisc head
- 5. Dimensions • Vertical diameter=1.8mm • Horizontal diameter =1.5mm • Depth=1mm • Cup to disc ratio- ratio of the disc diameter of the cup to that of the disc May vary from 0.1-0.9mm. ISNT RULE;-Inferior NRR is the broadest followed by superior, nasal and temporal-small and moderate disc follow the rule but large may not.
- 6. Physiologic cupping-horizontally is oval and deeper in nasal quadrant Only 2% of normal population have CD ratio of more than 0.7 Number of optic nerve fibers and area of neural rim they comprise is constant. Thus small optic discs have small cup because of concentration of nerve fibers at their point of confluences. small discs less than 0.3 Large discs =0.5 Early glaucomatic changes can be missed in small discs Cupping can be over diagnosed in large discs.
- 7. Retinal vessels onand near optic discs • CRA enters the globe through physiological cup-divides dichotomous within the cup and on surface of the disc -4 branches (ST,SN,IT,IN) • May divide within the optic nerve head 2 or 4 branches emerging separately from the physiologic cup • Veins lies temporal to arteries • Cilioretinal artery-in 40% and emerge from temporal aspect of optic disc
- 8. Optic disc anomalies OpticNerve Hypoplasia most common developmental optic disc anomaly characterized by a decreased number of optic nerve axons. It can be unilateral, bilateral, or segmental and is often asymmetric if bilateral The typical affected disc can be pale, gray, and relatively small with vascular tortuosity
- 9. A yellow-to-whitering around the disc (corresponding to abnormal extension of retina over the lamina cribrosa), known as the double ring sign, may be present. When the double ring sign is present, the hypoplastic disc–ring complex can be mistaken for a normal-sized optic nerve with normal cup–disc ratio
- 10. Epidemiology identified in12% of blind infants in Harris County in Texas in early 1980s In more recent studies, the incidences of ONH in all living children under the age of 18 is reported to be 10.9 per 100,000 in England and 17.3 per 100,000 in Sweden In 2013, a study based in Mayo Clinic reported an incidence of 1/2287 live births and 2.4/100,000 in patients less than 19 years old. ONH is usually diagnosed at 2 years of age
- 11. Risk Factors Youngmaternal age, maternal diabetes, and primiparity have the highest association with ONH Preterm labor, vaginal bleeding during pregnancy, low maternal weight gain, and maternal weight loss during the first and second trimesters increase the risk of ONH Recent studies demonstrate that maternal use of alcohol, recreational drugs, anticonvulsants, antidepressants, and viral infections during pregnancy appear to play a smaller role in the development of ONH than previously thought
- 12. The extentof papillomacular fiber involvement and any associated amblyopia determines visual acuity. ONH is usually idiopathic and sporadic. ONH may be associated with central nervous system (CNS) abnormalities and pituitary gland dysfunction. Septo-optic dysplasia (de Morsier syndrome) is the association of ONH with absence of the septum pellucidum and agenesis of the corpus callosum A history of neonatal jaundice suggests hypothyroidism; neonatal hypoglycemia or seizures indicate possible panhypopituitarism
- 13. General Pathology Inoptic nerve hypoplasia, retinal nerve fiber layer and ganglion cell number may be decreased, while the outer retinal layer is generally less unaffected
- 14. Clinical presentations • VA Can range from normal to light perception Most patients suffer from a visual acuity of 20/200 or worse Visual field often has localized defects combined with visual field constrictions-commonly in nasal or inferior fields • Can occur unilaterally, bilaterally symmetric, or bilaterally asymmetric • In unilateral and asymmetric bilateral ONH, relative afferent pupillary defects can be seen as well
- 15. Signs Optic discis often pale or gray and appears to be half the size of a normal optic disc or smaller Optic discs often present with a double ring sign – yellow to white ring around the disc The outer ring represents the normal junction between the sclera and the lamina cribrosa; the inner ring represents the abnormal extension of retina and pigment epithelium over the outer portion of the lamina cribrosa Tortuous retinal arterioles, venules, or both may accompany ONH, but retinal vessels can also present with normal caliber
- 17. Diagnostic procedures MRIstudies are suggested in patients suspected of having ONH The diameter of the intracranial optic nerve and thinning of the optic chiasm can be assessed on MRI scans. presence of midline abnormalities can be visualized to confirm the diagnosis of SOD Optical coherence tomography (OCT) is also an effective tool for measuring foveal parameters and detecting ONH
- 18. Differential diagnosis Opticnerve atrophy, optic nerve coloboma, peripapillary staphyloma, morning glory disc anomaly, tilted disc syndrome, glaucoma
- 19. Management evaluation ofall neonates with jaundice and recurrent hypoglycemia evaluation is recommended for infants with poor visual behavior, strabismus, or nystagmus Positive MRI brain should prompt to neurologic exam Endocrinologic and pituitary function evaluations are recommended regardless of the status of septum pellucidum. Endocrine workups include: fasting morning cortisol and glucose, growth hormone surrogates (IGF-1, IGFBP-3), LH et.c.
- 20. General treatment Amulti-disciplinary team of physicians including a neurologist, neurosurgeon, endocrinologist and/or other specialists from respective fields The recommended follow-up is semi-annually for growth patterns and annually for visual function. Surgical correction for strabismus is reserved for patients with symmetrical functional vision in both eyes, and patients with some potential for binocularity. Otherwise, surgical strabismus can be deferred for psychosocial issues
- 21. Excavated optic nervehead anomalies cover a spectrum of severity, ranging from optic pits through colobomas and dysplastic nerves to the morning glory ONH anomaly
- 22. An optic pit A depression of the ONH surface that is often gray or white, located inferotemporally, and associated with a mild visual field defect (usually paracentral or arcuate). Serous detachment of the macula develops in 25%–75% of cases possibly related to liquefied vitreous entering the subretinal space through communication between the optic pit and the macula. It is typically unilateral. Some have considered this entity to be a variant of coloboma, but it is distinct and there is no association with iris or chorioretinal coloboma
- 23. Etiology • Unclear • Thought–imperfect closure of the superior edge of the embryonic fissure • Histologically –herniation of the dysplastic retinal into the subarachnoid space through a defect in the lamina cribrosa.
- 24. Risk factors • Nogender predilection • Can be diagnosed in children or adults • No known risk factors • Unilateral pits may be inherited
- 25. Pathophysiology • Unclear • But–may be due to incomplete closure of the optic fissure resulting in a micro communication btn the subarachnoid space and the pit. • Absence of lamina cribrosa is noted at the site of the pit.
- 26. Symptoms • Are asymptomatic •Can be associated with visual loss from a secondary serous retinal detachment
- 27. Diagnosis • Is basedon morphology of the nerve and is observed via clinical examination • They are usually unilateral ,though 10-15% are bilateral • Usually there is one pit per disc, however multiple can occur • Appear as a round or oval depression that differs in color from the surrounding disc • The size can vary from 0.1 -0.7disc diameter and depth of 0.3-0.5 diameters
- 28. Assessment • Can beseen with direct or indirect ophthalmoscopy • Slit lamp may also be used Diagnostic procedures • OCT-trace amount of subretinal fluid • VF testing –enlarged blind spot and relative central scotoma. • Amsler grid can be used to monitor the onset of macular involvement of an optic pit with serous detachment
- 29. Treatment • No treatmentis required for an isolated optic pit • Laser and surgical therapy may be possible to repair serous detachment when associated with pit Complication • scotoma can result due to laser therapy.
- 31. Morning Glory DiscAnomaly Funnel-shaped excavation of the posterior fundus that incorporates an enlarged optic disc with elevated surrounding retinal pigment epithelium and an increased number of blood vessels looping at the edges of the disc Result of abnormal development of the distal optic stalk at its junction with the primitive optic vesicle. The anomaly is typically unilateral and is more common in girls. Serous retinal detachments occur in one-third of cases.
- 32. The ONHis enlarged, pink or orange, and either elevated or recessed within the staphyloma Nonrhegmatogenous serous retinal detachments occur in 26%–38% of cases Neuroimaging is warranted to evaluate for a basal encephalocele and CNS vascular anomalies.
- 33. Chorioretinal pigmentationsurrounds the excavation, and white glial tissue is present on the central ONH surface The characteristic feature is the emanation of retinal vessels from the periphery of the ONH
- 34. associated withbasal encephalocele in patients with midline abnormalities, PHACE syndrome (posterior fossa malformations, hemangiomas, arterial lesions, cardiac and eye anomalies), and carotid circulation abnormalities (moyamoya disease). Visual acuity ranges from 20/20 to no light perception, but it is usually 20/100 to 20/200. Because of the potential for associated CNS abnormalities, MRI and MR angiography should be considered.
- 36. Optic disc coloboma is the ocular defects of the optic nerve It is typically located in the inferonasal quadrant May be unilateral or bilateral Etiology results from incomplete closure of the embryonic fissure, usually occur inferiorly. they occasionally extend to the adjacent choroid and retina It can be associated with iris coloboma and adjacent or peripheral chorioretinal coloboma.
- 37. Visual fielddefects and an RAPD can occur, depending on the degree of abnormality Incidence • 0.5 -2.2 cases per 10,000 live births • It may be sporadic or inherited and is associated with systemic disorder in some cases.
- 38. Associations multiple systemicabnormalities and a number of syndromes, such as the CHARGE syndrome (coloboma, heart defects, choanal atresia, mental retardation, genitourinary abnormalities, and ear abnormalities). • Cataract • Glaucoma • Increased risk of retinal detachment
- 39. Assessment • It canhave a range of appearance from physiological cupping to extensive retinal involvement. • Pt have increased risk of retinal detachment –should be evaluated • Visual acuity is related to involvement of the papillomacular or foveal region and is difficult to predict.
- 40. Treatment • Monocular precautionsshould be strongly considered for any pt with unilateral coloboma and resulting decreased visual acuity on the affected site • Interval monitoring of RD should be done with dilated fundus exam approx. every 6-12 months or sooner if indicated. • Prophylactic laser may reduce risk of RD. • Measures such as patching should be considered to maximize visual potential of the affected eye as there is often normal retina present and refractive error is often present putting at risk of amblyopia.
- 41. Complications • Retinal detachment(23-42%) Cataract
- 42. Myelinated Retinal NerveFiber Layer Myelination of the optic nerve normally stops at the lamina cribrosa. Inappropriate myelination anterior to the lamina cribrosa causes scotomata or central vision loss. Particularly when the macula is involved, myelinated retinal nerve fibers are associated with ipsilateral high myopia and resultant anisometropic amblyopia. In some cases, the macula is hypoplastic.
- 43. Clinically, myelinatednerve fibers appear as a white superficial retinal area and feathered edges of which tend to follow the same orientation as that of the normal retinal nerve fibers. Retinal vessels that pass within the superficial layer of the nerve fibers are obscured. The myelinated fibers may occur as a single spot or as several noncontiguous patches. The most common location is along the disc margin.
- 45. Tilted Disc Characterisedby inferonasal tilting of the optic disc Most commonly bilaterally Is associated with high myopia(more than 5 diopters) The superior portion can sometimes seem elevated, simulating mild edema Alternatively, the disc is tilted horizontally, resulting in an oval disc with an oblique long axis.
- 46. Etiology • Unclear • But–due to oblique insertion of the optic nerve and retinal vessels due to incomplete closure of the embryonic fissure of the eye. • Additionaly,there is hypoplasia and thinning of the retina,choroid and sclera layer with focal hypopigmented and ectasia of the inferonasal posterior wall of the globe.
- 47. Diagnostics Ophthalmic examination; •Dilated fundus exam • The diagnosis can usually be made based on the fundoscopic appearance of the optic disc However OCT,MRI have been used to show the various abnormalities in optic nerve shape. The visual field defects may mimic those of chiasmal compression(superior bitemporal that do not respect the vertical meridian.
- 48. Patients maydemonstrate superotemporal visual field defects, which may resolve with refractive correction. myopic astigmatism, bilateral decreased vision, and visual difficulty at night suggest the possibility of X-linked congenital stationary night blindness
- 49. Bergmeister Papilla Aform of persistent fetal vasculature, Bergmeister papilla is a benign prepapillary glial remnant of the hyaloid artery, which is normally resorbed before birth. In some cases, a hyaloid artery remnant extends from the optic disc to the lens (typically inferonasally) and may contain blood.
- 50. Megalopapilla is anabnormally large optic disc (area >2.5 mm2 ). The commonly associated large cup can be mistaken for glaucomatous damage
- 51. Peripapillary Staphyloma isa posterior bulging of the sclera encompassing the optic disc. White sclera encircling the disc is often visible. Vision is usually poor. The condition is usually unilateral and rarely bilateral.
- 52. Optic Nerve Aplasia Optic nerve aplasia, a lack of optic nerve axons and retinal blood vessels, is very rare. The choroidal pattern is clearly visible. When bilateral, optic nerve aplasia is usually associated with other CNS malformations; when unilateral, it can occur with normal brain development.
- 53. Melanocytoma of theOptic Disc Melanocytoma is a darkly pigmented tumor with little or no growth potential. It usually involves the optic disc and adjacent retina In most cases it does not interfere with visual acuity, and rarely causes a sudden or gradual loss of sight The diagnosis is commonly by routine eye examination
- 54. Optic Atrophy Opticatrophy in children can be inherited • (autosomal dominant, autosomal recessive, X-linked, or mitochondrial) can be secondary to anterior visual pathway disease • inflammation (optic neuritis), perinatal hypoxic–ischemic injury, hydrocephalus, or optic nerve or chiasmal tumors.
- 56. Primary optic atrophy •Chalky white optic disc with clear defined margin • Disc pallor more of the temporal side • Atrophied neural rim-loss of physiological cup and flattening of optic disc • No gliotic or vascular changes
- 57. Secondary optic atrophy •Grayish white swollen optic disc • Poorly defined margin • Partially or completely filled physiological cup • Gliotic changes may or may not be present.
- 58. Neuroimaging shouldbe considered for all patients with optic atrophy of undetermined etiology because tumor or hydrocephalus is present in over 40% of these cases.
- 59. Leber Hereditary OpticNeuropathy Affects boys and men aged 10–30 years, but it may occur much earlier or later in life (the possible age range is 1–86 years of age). Symptomatic women account for only 10%–20% of cases. The syndrome presents with acute, painless, sequential, and severe vision loss. a maternally inherited (mitochondrial) disease characterized by acute or subacute bilateral loss of central vision, optic disc edema in the acute phase and central or cecocentral scotomata in otherwise healthy patients (usually males) in their second to fourth decade of life
- 60. The classicfundus appearance triad includes hyperemia and elevation of the ONH, with thickening of the peripapillary retina; although the ONH appears swollen, it does not leak on fluorescein angiography (“pseudoedema”) peripapillary telangiectasia tortuosity of the medium-sized retinal arterioles
- 61. The funduscan also appear entirely normal on presentation. The unaffected eye typically becomes symptomatic within weeks to months; however, although rare, the interval between initial and fellow eye involvement can be longer (up to 8 years). LHON results from a mitochondrial DNA mutation, most frequently at the 11778 position, less commonly at the 3460 or 14484 locations.
- 62. Results ofblood testing for these mutations confirm the diagnosis, permit genetic counseling, and provide information about prognosis Children and adult patients with the 14484 mutation have a higher chance (up to 65%) of late spontaneous improvement in central visual function, whereas those with the 11778 mutation have a lower chance (estimated at 4%). The point mutation is transmitted by mitochondrial DNA, which is inherited only from the mother; thus, only women transmit the disease.
- 63. The reasonsfor this selective male susceptibility remains unknown The differential diagnosis of LHON includes all other causes of optic neuropathies particularly optic neuritis compressive optic neuropathy, and infiltrative optic neuropathy
- 64. For patientswith a negative family history, neuroimaging should be performed. Occasionally patients demonstrate cardiac conduction abnormalities or other mild neurologic deficits that warrant further evaluation. No treatment has been shown to be effective for LHON. Corticosteroids are not beneficial.
- 65. Papilledema Papilledema refersto optic disc edema secondary to elevated intracranial pressure (ICP) It is typically bilateral. Initially, visual acuity, color vision, and pupillary reactions are normal. However, visual dysfunction may occur as a result of severe or chronic papilledema. Classic signs include disc hyperemia, retinal hemorrhages and exudates, and obscuration of vessels at the disc margin.
- 66. Early phase • Swollenoptic disc with indistinct margin • 1st seen in nasal quadrant and then in superior and inferior sectors (because of variation in density of NFL in NRR. • Physiologic cup is maintained giving it the disc a cylindrical appearance • Disc is hyperemic due to capillary dilatation • Retinal vessels are congested and non pulsatile
- 67. Acute phase • Opticdisc becomes increasingly swollen and elevated • Physiologic cup may still be maintained • Retinal venous congestion more pronounced • Some blood vessels partially obscured at edge of the disc • Flame shaped hemorrhages on disc margin • Macular star –accumulation of fluid and exudates, most prominent on nasal aspect of macular
- 68. Long standing phase •Disc markedly swollen and physiological cup obliterated Atrophic stage • Pale optic disc (secondary to optic atrophy) • Neuronal degeneration changes –punctate white opacities in the superficial NFL • Attenuated retinal arteries
- 69. Pseudopapilledema refers toany elevated anomaly of the optic disc that resembles papilledema Conditions that are frequently confused with papilledema in children include disc drusen, hyperopic discs, and prominent disc glial tissue can be differentiated from true papilledema by the absence of disc hyperemia and retinal hemorrhages and exudates, and by the lack of obscuration of vessels at the disc margin associated with anomalous branching of the large peripapillary retinal vessels.
- 70. • Most childrenwith pseudopapilledema do not have other related ophthalmic or systemic abnormalities. However, pseudopapilledema is associated with retinal dystrophy, Down syndrome. If clinical symptoms and signs of elevated ICP (headaches, sixth nerve palsy, true papilledema) are present, neuroimaging followed by lumbar puncture should be obtained.
- 72. Drusen the mostcommon cause of pseudopapilledema in children can appear within the first or second decade of life are frequently inherited (autosomal dominant); thus, examination of the parents is helpful when drusen are suspected in children. Visual acuity is rarely affected In some patients, fundus evaluation can identify drusen as the cause of the swollen appearance. In others, B-scan ultrasonography can be helpful in detecting bright calcific reflections at the optic disc
- 73. Children • Small opticdisc • Drusen hidden within substance of the nerve head • Pseudopapiledema • Retinal veins are not distended,spontaneous retinal pulsations not affected
- 74. Adolescents and adults •Drusen -single or multiple,semitranslucent,may coalesce –give disc yellow pink appearance • Optic disc may become enlaged and its border indistinct or irregular • Physiologic cup obliterated • Splinter hemorrhages on disc surface,subretinal hemrrhange in the peripapillary area
- 75. References Kanski's ClinicalOphthalmology 9th 2020 AAO-BCSC 2020-2021 6.Pediatric Ophthalmology and Strabismus Duane's Ophthalmology, 2012 (2) medscape