Optic Atrophy Clinical Presentation

Author: Rashmin Gandhi, MBBS, FRCS(Edin), FRCS(Glasg); Chief Editor: Hampton Roy Sr, MD more...

Updated: May 10, 2010

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History

See Physical.

Physical

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)

Causes

See Pathophysiology.

Proceed to Differential Diagnoses

Contributor Information and Disclosures

Author

Rashmin Gandhi, MBBS, FRCS(Edin), FRCS(Glasg) Faculty, Departments of Ocular Physiology and Neuro-ophthalmology, Elite School of Optometry; Faculty, CU Shah Ophthalmic Postgraduate Center, Consulting Staff, Department of Ophthalmology, Sankara Nethralaya Hospital

Rashmin Gandhi, MBBS, FRCS(Edin), FRCS(Glasg) is a member of the following medical societies: All India Ophthalmological Society and American Academy of Ophthalmology

Disclosure: Nothing to disclose.

Coauthor(s)

Gangaprasad Muthaiah Amula, MBBS, DNB Fellow, Sankara Nethralaya Hospital, India

Disclosure: Nothing to disclose.

Specialty Editor Board

Edsel Ing, MD, FRCSC Associate Professor, Department of Ophthalmology and Vision Sciences, University of Toronto Faculty of Medicine; Consulting Staff, Toronto East General Hospital, Canada

Edsel Ing, MD, FRCSC is a member of the following medical societies: American Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, American Society of Ophthalmic Plastic and Reconstructive Surgery, Canadian Ophthalmological Society, North American Neuro-Ophthalmology Society, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Simon K Law, MD, PharmD Assistant Professor of Ophthalmology, Jules Stein Eye Institute; Chief of Section of Ophthalmology Surgical Services, Department of Veterans Affairs Healthcare Center, West Los Angeles

Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, American Glaucoma Society, and Association for Research in Vision and Ophthalmology

Disclosure: Nothing to disclose.

Brian R Younge, MD Professor of Ophthalmology, Mayo Clinic School of Medicine

Brian R Younge, MD is a member of the following medical societies: American Medical Association, American Ophthalmological Society, and North American Neuro-Ophthalmology Society

Disclosure: Nothing to disclose.

Lance L Brown, OD, MD Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri

Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy Sr, MD Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, and Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

References

Tielsch JM, Javitt JC, Coleman A, et al. The prevalence of blindness and visual impairment among nursing home residents in Baltimore. N Engl J Med. May 4 1995;332(18):1205-9. [Medline].
Munoz B, West SK, Rubin GS, et al. Causes of blindness and visual impairment in a population of older Americans: The Salisbury Eye Evaluation Study. Arch Ophthalmol. Jun 2000;118(6):819-25. [Medline].
Albert DM, Jakobeic FA. Optic atrophy. In: Principles and Practice of Ophthalmology. 2^nd ed. Philadelphia: WB Saunders; 2000:4108- 4113.
Anderson DR. Ascending and descending optic atrophy produced experimentally in squirrel monkeys. Am J Ophthalmol. Nov 1973;76(5):693-711. [Medline].
Glaser JS. Neuro-Ophthalmology. 2^nd ed. Philadelphia: JB Lippincott; 1990:115–117.
Hoyt WF, Schlicke B, Eckelhoff RJ. Fundoscopic appearance of a nerve-fibre-bundle defect. Br J Ophthalmol. Aug 1972;56(8):577-83. [Medline].
Kline LB, Bajandas FJ. Neuro-ophthalmology Review Manual. 5^th ed. New Jersey: Slack; 2004:153-164.
Kline LB, ed. Optic nerve disorders. In: Ophthalmology Monographs. Vol 10. San Francisco, Calif: American Academy of Ophthalmology; 1996.
Kuppersmith MJ, Krohn D. Cupping of the optic disc with compressive lesions of the anterior visual pathway. Ann Ophthalmol. 1984;16:948–953.
Miller NR, Newman NJ. Walsh & Hoyt's Clinical Neuro-ophthalmology. 6^th ed. Philadelphia: JB Lippincott; 208- 218.
Miller NR, Newman SA. Transsynaptic degeneration. Arch Ophthalmol. Sep 1981;99(9):1654. [Medline].
Newman NJ. Optic disc pallor: a false localizing sign. Surv Ophthalmol. Jan-Feb 1993;37(4):273-82. [Medline].
Patel DA, Hove MW. Focal Points. Vol XXIV. No 2. San Francisco, Calif: American Academy of Ophthalmology; March 2006.
Schwartz B. Cupping and pallor of the optic disc. Arch Ophthalmol. Apr 1973;89(4):272-7. [Medline].
Tasman W, Jaeger EA. Topical diagnosis of optic nerve lesions. In: Duane's Ophthalmology. Philadelphia: JB Lippincott; 2007.
Thompson HS. Pupillary signs in the diagnosis of optic nerve disease. Trans Ophthalmol Soc U K. Sep 1976;96(3):377-81. [Medline].
Trobe JD, Glaser JS, Cassady J, et al. Nonglaucomatous excavation of the optic disc. Arch Ophthalmol. Jun 1980;98(6):1046-50. [Medline].
Trobe JD, Glaser JS, Cassady JC. Optic atrophy. Differential diagnosis by fundus observation alone. Arch Ophthalmol. Jun 1980;98(6):1040-5. [Medline].

Normal optic nerve histopathology.

Glaucomatous optic atrophy histopathology.

Healthy optic disc.

Nonarteritic anterior ischemic optic neuropathy.

Arteritic anterior ischemic optic neuropathy, cilioretinal artery occlusion.

Primary optic atrophy.

Optic atrophy following papilledema (secondary).

Glaucomatous optic atrophy.

Juvenile open-angle glaucoma (JOAG) with optic pallor.

Consecutive optic atrophy following panretinal photocoagulation (PRP).

Table 1. Various Common Groups of Disorders Presenting with Optic Atrophy

Table 1. Various Common Groups of Disorders Presenting with Optic Atrophy

	Postneuritis	Ischemic Arteritic	Ischemic Nonarteritic	Compressive
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
RAPD*	+	+	+	+
Motility	Painful movement in cases of retrobulbar neuritis	Normal	Normal	Depends on the site of compression
Nystagmus	In multiple sclerosis, beating 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
Electrophysiologic study	VEP-increased latency <†>	VEP-reduced amplitude	VEP-reduced amplitude	Reduced VEP amplitude
Neuroimaging (CT, MRI)	In multiple sclerosis, hyperechoic lesions are seen in the brain on MRI	-	-	Can delineate the 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

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