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Optic Atrophy Clinical Presentation

  • Author: Rashmin Gandhi, MBBS, FRCS(Edin), FRCS(Glasg); Chief Editor: Hampton Roy, Sr, MD  more...
 
Updated: Sep 12, 2014
 

History

See Physical.

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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)
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Causes

See Pathophysiology.

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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: American Academy of Ophthalmology, All India Ophthalmological Society

Disclosure: Nothing to disclose.

Coauthor(s)

Gangaprasad Muthaiah Amula, MBBS, DNB, FRCS(Glasg) FICO, FMRF, Consultant, L V Prasad Eye Institute, India

Gangaprasad Muthaiah Amula, MBBS, DNB, FRCS(Glasg) is a member of the following medical societies: All India Ophthalmological Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Simon K Law, MD, PharmD Clinical Professor of Health Sciences, Department of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, David Geffen School of Medicine

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

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, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Additional Contributors

Edsel Ing, MD, FRCSC Associate Professor, Department of Ophthalmology and Vision Sciences, University of Toronto Faculty of Medicine; Consulting Staff, Hospital for Sick Children and Sunnybrook Hospital

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, Royal College of Physicians and Surgeons of Canada, Canadian Ophthalmological Society, North American Neuro-Ophthalmology Society, Canadian Society of Oculoplastic Surgery, European Society of Ophthalmic Plastic and Reconstructive Surgery, Canadian Medical Association, Ontario Medical Association, Statistical Society of Canada, Chinese Canadian Medical Society

Disclosure: Nothing to disclose.

Acknowledgements

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.

References
  1. Lenaers G, Hamel CP, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, et al. Dominant optic atrophy. Orphanet J Rare Dis. 2012 Jul 9. 7(1):46. [Medline].

  2. Nakaso K, Adachi Y, Fusayasu E, Doi K, Imamura K, Yasui K, et al. Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA. J Clin Neurol. 2012 Sep. 8(3):230-4. [Medline]. [Full Text].

  3. 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. 1995 May 4. 332(18):1205-9. [Medline].

  4. 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. 2000 Jun. 118(6):819-25. [Medline].

  5. Klopstock T, Yu-Wai-Man P, Dimitriadis K, et al. A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy. Brain. 2011 Sep. 134:2677-86. [Medline]. [Full Text].

  6. de Lima S, Koriyama Y, Kurimoto T, Oliveira JT, et al. Full-length axon regeneration in the adult mouse optic nerve and partial recovery of simple visual behaviors. Proc Natl Acad Sci U S A. 2012 Jun 5. 109(23):9149-54. [Medline]. [Full Text].

  7. Keirstead SA, Rasminsky M, Fukuda Y, Carter DA, Aguayo AJ, Vidal-Sanz M. Electrophysiologic responses in hamster superior colliculus evoked by regenerating retinal axons. Science. 1989 Oct 13. 246(4927):255-7. [Medline].

  8. Fischer D, Heiduschka P, Thanos S. Lens-injury-stimulated axonal regeneration throughout the optic pathway of adult rats. Exp Neurol. 2001 Dec. 172(2):257-72. [Medline].

  9. Albert DM, Jakobeic FA. Optic atrophy. Principles and Practice of Ophthalmology. 2nd ed. Philadelphia: WB Saunders; 2000. 4108- 4113.

  10. Anderson DR. Ascending and descending optic atrophy produced experimentally in squirrel monkeys. Am J Ophthalmol. 1973 Nov. 76(5):693-711. [Medline].

  11. Glaser JS. Neuro-Ophthalmology. 2nd ed. Philadelphia: JB Lippincott; 1990. 115-117.

  12. Hoyt WF, Schlicke B, Eckelhoff RJ. Fundoscopic appearance of a nerve-fibre-bundle defect. Br J Ophthalmol. 1972 Aug. 56(8):577-83. [Medline].

  13. Kline LB, Bajandas FJ. Neuro-ophthalmology Review Manual. 5th ed. New Jersey: Slack; 2004. 153-164.

  14. Kline LB, ed. Optic nerve disorders. Ophthalmology Monographs. San Francisco, Calif: American Academy of Ophthalmology; 1996. Vol 10:

  15. Kuppersmith MJ, Krohn D. Cupping of the optic disc with compressive lesions of the anterior visual pathway. Ann Ophthalmol. 1984. 16:948-953.

  16. Miller NR, Newman NJ. Walsh & Hoyt's Clinical Neuro-ophthalmology. 6th ed. Philadelphia: JB Lippincott; 208- 218.

  17. Miller NR, Newman SA. Transsynaptic degeneration. Arch Ophthalmol. 1981 Sep. 99(9):1654. [Medline].

  18. Newman NJ. Optic disc pallor: a false localizing sign. Surv Ophthalmol. 1993 Jan-Feb. 37(4):273-82. [Medline].

  19. Patel DA, Hove MW. Focal Points. No 2. San Francisco, Calif: American Academy of Ophthalmology; March 2006. Vol XXIV:

  20. Schwartz B. Cupping and pallor of the optic disc. Arch Ophthalmol. 1973 Apr. 89(4):272-7. [Medline].

  21. Tasman W, Jaeger EA. Topical diagnosis of optic nerve lesions. Duane's Ophthalmology. Philadelphia: JB Lippincott; 2007.

  22. Thompson HS. Pupillary signs in the diagnosis of optic nerve disease. Trans Ophthalmol Soc U K. 1976 Sep. 96(3):377-81. [Medline].

  23. Trobe JD, Glaser JS, Cassady J, et al. Nonglaucomatous excavation of the optic disc. Arch Ophthalmol. 1980 Jun. 98(6):1046-50. [Medline].

  24. Trobe JD, Glaser JS, Cassady JC. Optic atrophy. Differential diagnosis by fundus observation alone. Arch Ophthalmol. 1980 Jun. 98(6):1040-5. [Medline].

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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. Various Common Groups of Disorders Presenting with Optic Atrophy
  



Postneuritis



Ischemic



Arteritic



Ischemic



Nonarteritic



Compressive
Age15-50 yApproximately 70 ySixth decadeVaries based on cause
SexMultiple sclerosis F>MF>MF=MVaries based on cause
Visual acuityVaries 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 visionColor vision > vision lossColor vision loss = vision lossColor vision loss = vision lossColor vision = vision loss
RAPD*++++
MotilityPainful movement in cases of retrobulbar neuritisNormalNormalDepends on the site of compression
NystagmusIn multiple sclerosis, vertical nystagmus (upbeating or downbeating) may be seenNoNoSee-saw nystagmus in optic chiasm compression
Optic discTemporal pallorPallid disc edemaSegmental disc edema Bow-tie pallor seen in optic chiasm compression; varies in other instances
 



Electrophysiologic study



VEP-increased latency <†>VEP-reduced amplitudeVEP-reduced amplitudeReduced VEP amplitude
Neuroimaging



(CT, MRI)



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



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