Optic disc drusen

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Optic disc drusen
Other namesOptic nerve head drusen
Optic disc drusen 73jw - CT axial - 001.jpg
Bilateral optic disc drusen in computed tomography seen as dense spots at the optical disc
Specialty Neurology   OOjs UI icon edit-ltr-progressive.svg

Optic disc drusen (ODD) are globules of mucoproteins and mucopolysaccharides that progressively calcify in the optic disc. [1] [2] They are thought to be the remnants of the axonal transport system of degenerated retinal ganglion cells. [3] [4] [5] ODD have also been referred to as congenitally elevated or anomalous discs, pseudopapilledema, pseudoneuritis, buried disc drusen, and disc hyaline bodies. [6]

Contents

Anatomy

The optic nerve is a cable connection that transmits images from the retina to the brain. It consists of over one million retinal ganglion cell axons. The optic nerve head, or optic disc is the anterior end of the nerve that is in the eye and hence is visible with an ophthalmoscope. It is located nasally and slightly inferior to the macula of the eye. There is a blind spot at the optic disc because there are no rods or cones beneath it to detect light. The central retinal artery and vein can be seen in the middle of the disc as it exits the scleral canal with the optic nerve to supply the retina. The vessels send branches out in all directions to supply the retina.

Pathophysiology

In children, optic disc drusen are usually buried and undetectable by fundoscopy except for a mild or moderate elevation of the optic disc. With age, the overlying axons become atrophied and the drusen become exposed and more visible. They may become apparent with an ophthalmoscope and some visual field loss at the end of adolescence. [7] ODD can compress and eventually compromise the vasculature and retinal nerve fibers. Rarely, choroidal neovascularization may develop as the juxtapapillary nerve fibers are disrupted, with subsequent subretinal hemorrhage and retinal scarring. [6] Even more rarely, vitreous hemorrhage may develop. [8]

Diagnosis

Differential diagnosis

In most patients, optic disc drusen are an incidental finding. It is important to differentiate them from other conditions that present with optic disc elevation, especially papilledema, which could imply raised intracranial pressure or tumors. True papilledema may present with exudates or cotton-wool spots, unlike ODD. The optic disc margins are characteristically irregular in ODD but not blurred as there is no swelling of the retinal nerve fibers. Spontaneous venous pulsations are present in about 80 percent of patients with ODD, but absent in cases of true disc edema. [6] Other causes of disc elevation clinicians must exclude may be: hyaloid traction, epipapillary glial tissue, myelinated nerve fibres, scleral infiltration, vitreopapillary traction and high hyperopia. [9] Disorders associated with disc elevation include: Alagille syndrome, Down syndrome, Kenny-Caffey syndrome, [10] Leber Hereditary Optic Neuropathy and linear nevus sebaceous syndrome. [11]

Management

Patients with optic disc drusen should be monitored periodically via ophthalmoscopy, Snellen acuity, contrast sensitivity, color vision, intraocular pressure and threshold visual fields. [6] For those with visual field defects optical coherence tomography has been recommended for follow-up of nerve fiber layer thickness. [12] Associated conditions such as angioid streaks and retinitis pigmentosa should be screened for. Both the severity of optic disc drusen and the degree of intraocular pressure elevation have been associated with visual field loss. [13] [14] There is no widely accepted treatment for ODD, although some clinicians will prescribe eye drops designed to decrease the intra-ocular pressure and theoretically relieve mechanical stress on fibers of the optic disc. Rarely choroidal neovascular membranes may develop adjacent to the optic disc threatening bleeding and retinal scarring. Laser treatment [15] [16] or photodynamic therapy [17] or other evolving therapies [18] may prevent this complication.

Prognosis

Optic nerve damage is progressive and insidious. Some of patients will develop some peripheral field defects. These can include nasal step defects, enlarged blind spots, arcuate scotomas, sectoral field loss and altitudinal defects. [6] Clinical symptoms correlate to visibility of the drusen. [13] Central vision loss is a rare complication of bleeding from peripapillar choroidal neovascular membranes. Anterior ischemic optic neuropathy (AION) is a potential complication. [19] [20]

Epidemiology

Optic disc drusen are found clinically in about 1% of the population but this increases to 3.4% in individuals with a family history of ODD. About two thirds to three quarters of clinical cases are bilateral. [1] A necropsy study of 737 cases showed a 2.4% incidence with 2 out of 15 (13%) bilateral, [2] perhaps indicating the insidious nature of many cases. An autosomal dominant inheritance pattern with incomplete penetrance and associated inherited dysplasia of the optic disc and its blood supply is suspected. [21] [22] Males and females are affected at equal rates. Caucasians are the most susceptible ethnic group. Certain conditions have been associated with disc drusen such as retinitis pigmentosa, angioid streaks, Usher syndrome, Noonan syndrome [23] and Alagille syndrome. [1] [24] Optic disc drusen are not related to Bruch membrane drusen of the retina which have been associated with age-related macular degeneration. [6]

See also

Related Research Articles

<span class="mw-page-title-main">Papilledema</span> Eye disorder

Papilledema or papilloedema is optic disc swelling that is caused by increased intracranial pressure due to any cause. The swelling is usually bilateral and can occur over a period of hours to weeks. Unilateral presentation is extremely rare.

The National Eye Institute (NEI) is part of the U.S. National Institutes of Health (NIH), an agency of the U.S. Department of Health and Human Services. The mission of NEI is "to eliminate vision loss and improve quality of life through vision research." NEI consists of two major branches for research: an extramural branch that funds studies outside NIH and an intramural branch that funds research on the NIH campus in Bethesda, Maryland. Most of the NEI budget funds extramural research.

<span class="mw-page-title-main">Amaurosis fugax</span> Medical condition

Amaurosis fugax is a painless temporary loss of vision in one or both eyes.

<span class="mw-page-title-main">Optic disc</span> Optic nerve head, the point of exit for ganglion cell axons leaving the eye

The optic disc or optic nerve head is the point of exit for ganglion cell axons leaving the eye. Because there are no rods or cones overlying the optic disc, it corresponds to a small blind spot in each eye.

<span class="mw-page-title-main">Coloboma</span> Hole in one of the structures of the eye

A coloboma is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is present during early stages of prenatal development, fails to close up completely before a child is born. Ocular coloboma is relatively uncommon, affecting less than one in every 10,000 births.

Anterior ischemic optic neuropathy (AION) is a medical condition involving loss of vision caused by damage to the optic nerve as a result of insufficient blood supply (ischemia). This form of ischemic optic neuropathy is generally categorized as two types: arteritic AION, in which the loss of vision is the result of an inflammatory disease of arteries in the head called temporal arteritis, and non-arteritic AION, which is due to non-inflammatory disease of small blood vessels.

<span class="mw-page-title-main">Bruch's membrane</span>

Bruch's membrane or lamina vitrea is the innermost layer of the choroid of the eye. It is also called the vitreous lamina or Membrane vitriae, because of its glassy microscopic appearance. It is 2–4 μm thick.

Dominant optic atrophy (DOA), or autosomal dominant optic atrophy (ADOA), (Kjer's type) is an autosomally inherited disease that affects the optic nerves, causing reduced visual acuity and blindness beginning in childhood. However, the disease can seem to re-present a second time with further vision loss due to the early onset of presbyopia symptoms (i.e., difficulty in viewing objects up close). DOA is characterized as affecting neurons called retinal ganglion cells (RGCs). This condition is due to mitochondrial dysfunction mediating the death of optic nerve fibers. The RGCs axons form the optic nerve. Therefore, the disease can be considered of the central nervous system. Dominant optic atrophy was first described clinically by Batten in 1896 and named Kjer’s optic neuropathy in 1959 after Danish ophthalmologist Poul Kjer, who studied 19 families with the disease. Although dominant optic atrophy is the most common autosomally inherited optic neuropathy (i.e., disease of the optic nerves), it is often misdiagnosed.

<span class="mw-page-title-main">Drusen</span> Medical condition

Drusen, from the German word for node or geode, are tiny yellow or white accumulations of extracellular material that build up between Bruch's membrane and the retinal pigment epithelium of the eye. The presence of a few small ("hard") drusen is normal with advancing age, and most people over 40 have some hard drusen. However, the presence of larger and more numerous drusen in the macula is a common early sign of age-related macular degeneration (AMD).

Optic neuropathy is damage to the optic nerve from any cause. The optic nerve is a bundle of millions of fibers in the retina that sends visual signals to the brain. [1].

<span class="mw-page-title-main">Presumed ocular histoplasmosis syndrome</span> Medical condition

Presumed ocular histoplasmosis syndrome (POHS) is a syndrome affecting the eye, which is characterized by peripheral atrophic chorioretinal scars, atrophy or scarring adjacent to the optic disc and maculopathy.

Ocular ischemic syndrome is the constellation of ocular signs and symptoms secondary to severe, chronic arterial hypoperfusion to the eye. Amaurosis fugax is a form of acute vision loss caused by reduced blood flow to the eye; it may be a warning sign of an impending stroke, as both stroke and retinal artery occlusion can be caused by thromboembolism due to atherosclerosis elsewhere in the body. Consequently, those with transient blurring of vision are advised to urgently seek medical attention for a thorough evaluation of the carotid artery. Anterior segment ischemic syndrome is a similar ischemic condition of anterior segment usually seen in post-surgical cases. Retinal artery occlusion leads to rapid death of retinal cells, thereby resulting in severe loss of vision.

<span class="mw-page-title-main">Papillorenal syndrome</span> Medical condition

Papillorenal syndrome is an autosomal dominant genetic disorder marked by underdevelopment (hypoplasia) of the kidney and colobomas of the optic nerve.

<span class="mw-page-title-main">Chiasmal syndrome</span> Set of signs and symptoms that are associated with lesions of the optic chiasm

Chiasmal syndrome is the set of signs and symptoms that are associated with lesions of the optic chiasm, manifesting as various impairments of the affected's visual field according to the location of the lesion along the optic nerve. Pituitary adenomas are the most common cause; however, chiasmal syndrome may be caused by cancer, or associated with other medical conditions such as multiple sclerosis and neurofibromatosis.

<span class="mw-page-title-main">Optic pit</span> Medical condition

Optic pit, optic nerve pit, or optic disc pit (ODP) is rare a congenital excavation (or regional depression) of the optic disc (also optic nerve head), resulting from a malformation during development of the eye. The incidence of ODP is 1 in 10,000 people with no predilection for either gender. There is currently no known risk factors for their development. Optic pits are important because they are associated with posterior vitreous detachments (PVD) and even serous retinal detachments.

<span class="mw-page-title-main">Angioid streaks</span> Medical condition

Angioid streaks, also called Knapp streaks or Knapp striae, are small breaks in Bruch's membrane, an elastic tissue containing membrane of the retina that may become calcified and crack. Up to 50% of angioid streak cases are idiopathic. It may occur secondary to blunt trauma, or it may be associated with many systemic diseases. The condition is usually asymptomatic, but decrease in vision may occur due to choroidal neovascularization.

<span class="mw-page-title-main">Choroidal neovascularization</span> Creation of new blood vessels in the choroid layer of the eye

Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye. Choroidal neovascularization is a common cause of neovascular degenerative maculopathy commonly exacerbated by extreme myopia, malignant myopic degeneration, or age-related developments.

<span class="mw-page-title-main">Intraocular hemorrhage</span> Medical condition

Intraocular hemorrhage is bleeding inside the eye. Bleeding can occur from any structure of the eye where there is vasculature or blood flow, including the anterior chamber, vitreous cavity, retina, choroid, suprachoroidal space, or optic disc.

Sohan Singh Hayreh was an ophthalmologist, clinical scientist, and professor emeritus of ophthalmology at the University of Iowa. As one of the pioneers in the field of fluorescein angiography, he was generally acknowledged to be a leading authority in vascular diseases of the eye and the optic nerve. For over 60 years, Hayreh was actively involved in basic, experimental, and clinical research in ophthalmology, publishing over 400 original peer-reviewed articles in various international ophthalmic journals, six classical monographs and books in his field of research, and more than 50 chapters in ophthalmic books. He made many seminal observations dealing with the ocular circulation in health and disease, the optic disc and the optic nerve, retinal and choroidal vascular disorders, glaucomatous optic neuropathy, fundus changes in malignant arterial hypertension, ocular neovascularization, rheumatologic disorders of the eye, and nocturnal arterial hypotension. He was an elected fellow of the National Academy of Medical Sciences.

<span class="mw-page-title-main">Heidelberg Retinal Tomography</span>

The Heidelberg Retinal Tomography is a diagnostic procedure used in ophthalmology. The Heidelberg Retina Tomograph (HRT) is an ophthalmological confocal point scanning laser ophthalmoscope for examining the cornea and certain areas of the retina using different diagnostic modules. However, the most widely used area of application for HRT is the inspection of the optic nerve head (papilla) for early detection and follow-up of glaucoma. The procedure has established itself as an integral part of routine glaucoma diagnostics alongside the visual field examination (perimetry), the chamber angle examination (gonioscopy) and the measurement of intraocular pressure (tonometry). The HRT is the most widely used application of confocal scanning laser ophthalmoscopy.

References

  1. 1 2 3 Golnik, K. (2006). Congenital anomalies and acquired abnormalities of the optic nerve, (Version 14.3). UptoDate (On-Line Serial)
  2. 1 2 Friedman AH, Henkind P, Gartner S (April 1975). "Drusen of the optic disc. A histopathological study". Trans Ophthalmol Soc U K. 95 (1): 4–9. PMID   1064209.
  3. ↑ Rosen E, Almog Y, Assia E (November 2005). "[Optic disc drusen and acute vision loss]". Harefuah (in Hebrew). 144 (11): 785–89, 822. PMID   16358654.
  4. ↑ Tso MO (October 1981). "Pathology and pathogenesis of drusen of the optic nervehead". Ophthalmology. 88 (10): 1066–80. doi:10.1016/s0161-6420(81)80038-3. PMID   7335311.
  5. ↑ Kapur R, Pulido JS, Abraham JL, Sharma M, Buerk B, Edward DP (January 2008). "Histologic findings after surgical excision of optic nerve head drusen". Retina (Philadelphia, Pa.). 28 (1): 143–46. doi:10.1097/IAE.0b013e31815e98d8. PMID   18185151. S2CID   21285492.
  6. 1 2 3 4 5 6 "Optic Nerve Head Drusen". Handbook of Ocular Disease Management. Jobson Publishing L.L.C. 2001. Archived from the original on 2004-12-09.
  7. ↑ Spencer TS, Katz BJ, Weber SW, Digre KB (December 2004). "Progression from anomalous optic discs to visible optic disc drusen". J Neuroophthalmol. 24 (4): 297–98. doi: 10.1097/00041327-200412000-00006 . PMID   15662245.
  8. ↑ Horton, J. (2005). "Disorders of the Eye". In Jameson JN, Kasper DL, Harrison TR, Braunwald E, Fauci AS, Hauser SL, Longo DL (eds.). Harrison's principles of internal medicine (16th ed.). New York: McGraw-Hill Medical Publishing Division. ISBN   978-0-07-140235-4.
  9. ↑ Brodsky, MC (2005). "Ch 3: Congenital anomalies of the optic disc: Pseudopapilledema associated with optic disc drusen". In Hoyt, William Graves; Miller, Neil; Walsh, Frank (eds.). Walsh and Hoyt's clinical neuro-ophthalmology (6th ed.). Hagerstwon, MD: Lippincott Williams & Wilkins. pp. 178–87. ISBN   978-0-7817-4811-7.
  10. ↑ Online Mendelian Inheritance in Man (OMIM): Kenny-Caffey Syndrome type 2 - 127000
  11. ↑ Online Mendelian Inheritance in Man (OMIM): Schimmelpenning-Feuerstein-MIMS Syndrome - 163200
  12. ↑ Calvo-González C, Santos-Bueso E, Díaz-Valle D, et al. (May 2006). "[Optic nerve drusen and deep visual fields defects]". Arch Soc Esp Oftalmol (in Spanish). 81 (5): 269–73. PMID   16752318.
  13. 1 2 Wilkins JM, Pomeranz HD (June 2004). "Visual manifestations of visible and buried optic disc drusen". J Neuroophthalmol. 24 (2): 125–29. doi: 10.1097/00041327-200406000-00006 . PMID   15179065. S2CID   23851816.
  14. ↑ Grippo TM, Shihadeh WA, Schargus M, et al. (March 2008). "Optic nerve head drusen and visual field loss in normotensive and hypertensive eyes". J. Glaucoma. 17 (2): 100–04. doi:10.1097/IJG.0b013e31814b995a. PMID   18344754. S2CID   801305.
  15. ↑ Delyfer MN, Rougier MB, Fourmaux E, Cousin P, Korobelnik JF (April 2004). "Laser photocoagulation for choroidal neovascular membrane associated with optic disc drusen". Acta Ophthalmol Scand. 82 (2): 236–38. doi:10.1111/j.1600-0420.2004.00231.x. PMID   15043550.
  16. ↑ Virgili G, Michelessi M, Parodi MB, Bacherini D, Evans JR (2015). "Laser treatment of drusen to prevent progression to advanced age-related macular degeneration". Cochrane Database Syst Rev. 2015 (10): CD006537. doi:10.1002/14651858.CD006537.pub3. PMC   4733883 . PMID   26493180.
  17. ↑ Chaudhry NA, Lavaque AJ, Shah A, Liggett PE (2005). "Photodynamic therapy for choroidal neovascular membrane secondary to optic nerve drusen". Ophthalmic Surg Lasers Imaging. 36 (1): 70–72. doi:10.3928/15428877-20050101-09. PMID   15688974.
  18. ↑ Sivaprasad S, Moore AT (April 2008). "Choroidal neovascularisation in children". Br J Ophthalmol. 92 (4): 451–54. doi:10.1136/bjo.2007.124586. PMID   18369058. S2CID   9963072.
  19. ↑ Purvin V, King R, Kawasaki A, Yee R (January 2004). "Anterior ischemic optic neuropathy in eyes with optic disc drusen". Arch. Ophthalmol. 122 (1): 48–53. doi: 10.1001/archopht.122.1.48 . PMID   14718294.
  20. ↑ Gupta, Divya; Chaubey, Anupriya; Singh, Ritu; Gupta, SanjivKumar (2021). "Anterior ischemic optic neuropathy secondary to optic nerve head drusen - A case report and review of literature". Indian Journal of Ophthalmology: Case Reports. 1 (4): 771. doi: 10.4103/ijo.IJO_3795_20 . ISSN   2772-3070. S2CID   239031007.
  21. ↑ Antcliff RJ, Spalton DJ (July 1999). "Are optic disc drusen inherited?". Ophthalmology. 106 (7): 1278–81. doi:10.1016/S0161-6420(99)00708-3. PMID   10406605.
  22. ↑ Riordan-Eva P, Hoyt WF (2004). "Neuro-ophthalmology". In John P. Whitcher, Riordan-Eva, Paul, Vaughan, Daniel, Asbury, Taylor (eds.). Vaughan & Asbury's general ophthalmology (16th ed.). New York: Lange Medical Books/McGraw-Hill. pp. 261–306. ISBN   978-0-07-137831-4.
  23. ↑ Online Mendelian Inheritance in Man (OMIM): Noonan syndrome - 163950
  24. ↑ Nischal KK, Hingorani M, Bentley CR, et al. (January 1997). "Ocular ultrasound in Alagille syndrome: a new sign". Ophthalmology. 104 (1): 79–85. doi:10.1016/s0161-6420(97)30358-3. PMID   9022108.

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