Optic Atrophy Clinical Presentation
- Author: Rashmin Gandhi, MBBS, FRCS(Edin), FRCS(Glasg); Chief Editor: Hampton Roy, Sr, MD more...
When examining a patient with a pale disc, determine primarily if the pallor is physiologic. Nonpathologic disc pallor is observed in the following:
- Axial myopia: The optic disc has a segmental whitish appearance due to an oblique angle of insertion of the optic nerve and nasal displacement of the optic nerve contents.
- Myelinated nerve fibers: Feathery margins are due to the superficial location, usually adjacent to the disc.
- Optic nerve pit: Small colobomas are most often located in the inferotemporal portion of the disc.
- Tilted disc can cause confusion.
- Optic nerve hypoplasia has a double ring sign, and the inner ring is actually the optic disc margin.
- Scleral crescent areas are devoid of retinal pigment epithelium.
- Optic disc drusen
- Fundus viewing through an intraocular lens implant
- Brighter-than-normal luminosity: The luminosity of an indirect ophthalmoscope is approximately 2000 lux and that of a direct ophthalmoscope is up to 900 lux. A disc appears pale if the luminosity of the instrument is brighter than normal.
Optic atrophy in young individuals
Hereditary and congenital optic atrophy generally presents in the first or second decade of life. They can be broadly classified into the following 3 major groups:
- Optic atrophy with generalized white matter disease (eg, adrenoleukodystrophy)
- Optic atrophy with seemingly unrelated systemic features (generally associated with OPA1 gene mutation)
- Isolated optic atrophy (may be autosomal dominant or recessive mitochondrial inheritance; eg, Leber hereditary optic neuropathy)
Unexplained optic atrophy
Optic atrophy that does not fit into the aforementioned groups requires further investigation. A typical investigation protocol is as follows:
- Visual fields 30-2 and full field
- MRI of the brain and orbits with contrast
- CT scanning of the brain and orbits with contrast (in addition to space-occupying lesion [SOL], look for sinusitis, hyperpneumatized sinuses, fibrous dysplasia)
- Blood glucose level
- Blood pressure, cardiovascular examination
- Carotid Doppler ultrasound study
- Vitamin B-12 levels
- Venereal Disease Research Laboratory (VDRL)/Treponema pallidum hemagglutination (TPHA) tests
- Antinuclear antibody levels
- Sarcoid examination
- Homocysteine levels
- Antiphospholipid antibodies
- Enzyme-linked immunosorbent assay (ELISA) for toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus (TORCH panel)
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|Age||15-50 y||Approximately 70 y||Sixth decade||Varies based on cause|
|Sex||Multiple sclerosis F>M||F>M||F=M||Varies based on cause|
|Visual acuity||Varies from mild blurring (34%) and moderate loss of acuity (12%) to severe or total loss of light perception (complete blindness) in 54% of cases, to no light perception. The loss of vision is acute and progressive.--Vision usually recovers within 2 mo||< 20/200 (6/60)||>20/200 (6/60)||Varies from mild blurring to no light perception|
|Color vision||Color vision > vision loss||Color vision loss = vision loss||Color vision loss = vision loss||Color vision = vision loss|
|Motility||Painful movement in cases of retrobulbar neuritis||Normal||Normal||Depends on the site of compression|
|Nystagmus||In multiple sclerosis, vertical nystagmus (upbeating or downbeating) may be seen||No||No||See-saw nystagmus in optic chiasm compression|
|Optic disc||Temporal pallor||Pallid disc edema||Segmental disc edema||Bow-tie pallor seen in optic chiasm compression; varies in other instances|
|VEP-increased latency <†>||VEP-reduced amplitude||VEP-reduced amplitude||Reduced VEP amplitude|
|In multiple sclerosis, hyperechoic lesions are seen in the brain on MRI||-||-||For exact location of compression|
|Other associations||Headache, scalp tenderness, jaw claudication|| |
Hypertension and diabetes
|Headache, vomiting, and focal neurologic deficits|
|*RAPD - Relative afferent pupil defect|
<†>VEP - Visual-evoked potential