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Optic Disc Drusen

Drusen Optic Disc [papilla]

Optic disc drusen (ODD) refers to the presence of calcified hyaline bodies in the distal portions of the second cranial nerve, the optic nerve. This condition is congenital and may eventually interfere with vision. In most cases though, ODD is an incidental finding that doesn't pose any problem to the affected individual. Related terms are optic nerve head drusen and optic nerve drusen.


Presentation

The vast majority of ODD patients is asymptomatic. If the condition does provoke any symptoms, those typically arise in youth or adulthood [1]. The presence of calcified bodies within the optic disc may cause optic nerve dysfunction that, in turn, results in a mild loss of visual acuity and visual field defects. The more superficial those calcified bodies are located, the more likely they are to eventually interfere with vision. An assessment of the patient's visual field may reveal deficits in the inferior nasal section or in any other peripheral area. A general peripheral vision loss results in a concentric constriction. Also, an enlargement of the blind spot may be noted [2].

It should be noted that ODD has repeatedly been associated with hereditary pathologies like retinitis pigmentosa, pseudoxanthoma elasticum and Alagille syndrome.

Turkish
  • PURPOSE: The purpose of this study is to identify the genetic defect in a Turkish family with autosomal recessive retinitis pigmentosa, nanophthalmos, and optic disc drusen.[ncbi.nlm.nih.gov]
  • This study was presented as a poster at the 44th National Congress of Turkish Ophthalmology Society, in Antalya, TURKEY (29 September-03 October 2010). 1. Auw-Haedrich C, Staubach F, Witschel H. Optic disk drusen. Surv Ophthalmol 2002;47:515–532. 2.[synapse.koreamed.org]
Photosensitivity
  • This 59-year-old man experienced onset of painless visual loss in theleft eye associated with mild photosensitivity. There was no history of headacheor focal neurologic deficits. His ocular history was positive for bilateralODD.[jamanetwork.com]
Lagophthalmos
  • Abstract The blind and painful right eye of a 34-year-old woman with the Sturge-Weber syndrome had to be enucleated on account of keratitis e lagophthalmo.[ncbi.nlm.nih.gov]
Colorblindness
  • Other ocular disordersincluded chronic open-angle glaucoma in 2 patients, ocular hypertension in1, previous iritis in 1, prior cataract extraction in 1, and congenital colorblindness in 2.[jamanetwork.com]
Chronic Anxiety
  • She had a history of chronic anxiety for which she was taking sertraline. Visual acuity was 20/25 bilaterally, and color vision and pupillary reactions were normal.[journals.lww.com]
Learning Difficulties
  • There was a group of 15 clumsy children with learning difficulties and delayed development of speech.[ncbi.nlm.nih.gov]
Guillain-Barré Syndrome
  • […] the optic nerve (ON), causing increased pressure around the ON and resulting in blockage of axoplasmic transportation and edema of the nerve fiber layer (NFL). 8 Causes of papilledema in the pediatric population may include, but are not limited to, Guillain-Barré[reviewofoptometry.com]
Vertigo
  • […] vision loss (TVL) & Visual field defects (VFDs) can occur TVL, double vision, and VFDs Headaches Not associated with ONHD If present are described as worse upon awakening &/or postural changes Neurological Symptoms Not associated with ONHD Tinnitus, vertigo[reviewofoptometry.com]
Neuralgia
  • […] defects (VFDs) can occur TVL, double vision, and VFDs Headaches Not associated with ONHD If present are described as worse upon awakening &/or postural changes Neurological Symptoms Not associated with ONHD Tinnitus, vertigo, nausea/vomiting, peripheral neuralgias[reviewofoptometry.com]
Focal Neurologic Deficit
  • There was no history of headacheor focal neurologic deficits. His ocular history was positive for bilateralODD. His medical history included obesity and borderline hypercholesterolemia.[jamanetwork.com]

Workup

ODD most commonly affects both eyes and is more often seen in women than in men. Individuals with small, crowded optic discs may be predisposed for the development of ODD.

Calcified hyaline bodies may be located very close to the surface of the distal terminus of the optic nerve, the optic disc. In such cases, the ophthalmologist may observe characteristic anomalies while performing an examination of the ocular fundus [3]: The calcified bodies may be seen directly; the optic disc may be raised or missing its central cup. The optic disc's edges may be blurred, and abnormal vascular structures may also be present. Very rarely, hemorrhages may be detected.

It may be challenging to distinguish superficial ODD from optic disc edema though [4], but the latter may be an indicator of more severe pathologies causing an increased intracranial pressure and should thus be ruled out. In order to differentiate both conditions, the ophthalmologist can make use of their distinct fluorescent behavior: ODD is associated with the presence of hyperautofluorescent particles, optic disc edema isn't. The main disadvantage of fundus autofluorescence is its low signal strength. It thus will only yield positive findings in ODD patients that carry calcified bodies in very close proximity to the retinal surface [5]. Peak signals can be expected to be two orders of magnitude higher in fundus fluorescein angiography. Here, ODD may be identified upon the observation of a well-defined hyperfluorescence in the late phase [2]. In contrast, diffuse leakage of the fluorescent dye is typical of optic disc edema.

Still, the maximum depth of tissue penetration is limited even in fundus fluorescein angiography. However, calcified bodies may in fact lie within deeper structures of the optic nerve and be thus not accessible using the aforedescribed techniques. In order to visualize these particles, imaging techniques like B-scan sonography, optical coherence tomography and computed tomography may be applied [2] [6] [7].

Treatment

  • There is no treatment for disc drusen, but some of the complications may be amenable to treatment.[ncbi.nlm.nih.gov]
  • There is also a slight increase in the risk of non-arteritic ischaemic optic neuropathy 6] Management and Treatment? There is no proven treatment for Optic Disc drusen.[cataract.org.uk]

Prognosis

  • Long-term evolution of ODD anatomy and visual field defects in ODD patients is a key factor for learning more about pathophysiology and prognosis of the condition.[ncbi.nlm.nih.gov]
  • Thus, it can be a valuable and noninvasive tool for the detection of ONHD bur also for its complications and prognosis. Fig. 1 – Fundus photo OD Fig. 2 – Fundus Autofluorescence OD[issoct.com]
  • […] optic neuropathy Pre-eruptive anterior ischemic optic neuropathy Treatment None Retest visual fields periodically to assess whether defects are present or enlarging to the point of impairing safe driving or other visually demanding occupational tasks Prognosis[goodhopeeyeclinic.org.uk]
  • A visual field analysis is done to detect any peripheral visual field changes. 5] Prognosis? Most people keep good central vision and do not notice any change.[cataract.org.uk]
  • Treatment and prognosis In the vast majority of cases, no therapy is required 5.[radiopaedia.org]

Etiology

  • Because of the asymptomatic nature, location of the hemorrhage, and lack of conclusive etiology, close monitoring was recommended. After 4 months, 75% of the hemorrhage had reabsorbed with no visual complications.[ncbi.nlm.nih.gov]
  • A discussion of the etiology, classification, and clinical course of optic disc drusen is undertaken. Format: video Series: Moran Eye Center Grand Rounds Identifier: Moran_CORE_20692 Copyright statement: Copyright 2015.[morancore.utah.edu]
  • Although the appearance of ODD and disc edema can at times appear similar, the etiology and treatment of these two conditions differ.[jcor.in]
  • […] discusses the adjunctive role of visual evoked potential (VEP), multifocal VEP, electroretinogram (ERG), and mul- focal ERG in the diagnosis of more challenging visual problems, es- cially in distinguishing them from macular disorders and psychogenic etiologies[books.google.ro]

Epidemiology

  • Keywords: optic disc • drusen • clinical (human) or epidemiologic studies: prevalence/incidence 2012, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved.[iovs.arvojournals.org]
  • Anterior ischemic optic neuropathy (AION) is a potential complication. [19] Epidemiology [ edit ] 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.[en.wikipedia.org]
Sex distribution
Age distribution

Pathophysiology

  • PURPOSE: To determine the effect of optic disc drusen on the latency of the pattern-reversal checkerboard visual evoked potentials (VEPs) and multifocal (mf)VEPs and to better understand the pathophysiology of the condition.[ncbi.nlm.nih.gov]
  • BACKGROUND: Optic disc drusen (ODD) are seen in up to 2.4% of the general population, but the etiology and pathophysiology of the condition is still unknown.[publichealth.ku.dk]
  • Optic Disc Drusen in Children: The Copenhagen Child Cohort 2000 Eye Study Background: Optic disc drusen (ODD) are seen in up to 2.4% of the general population, but the etiology and pathophysiology of the condition is still unknown.[octnews.org]
  • Pathophysiology Pathogenesis is thought to be related to possibly inherited dysplasia of the optic disc with blood supply comprise, causing slowed axoplasmic flow and leading to the formation of calcific excrescences.[eyewiki.aao.org]

Prevention

  • Since treatment of optic disc drusen is limited, recognition of optic nerve drusen as a cause of hemorrhage during pregnancy prevents unnecessary diagnostic and therapeutic interventions.[ncbi.nlm.nih.gov]
  • With others, there is no treatment, or treatment may only prevent further vision loss. Optic glioma (Medical Encyclopedia) Optic nerve atrophy (Medical Encyclopedia) Optic neuritis (Medical Encyclopedia) [ Read More ][icdlist.com]
  • More importantly, prevention of complications in the other eye is a priority. Good luck![doctorslounge.com]
  • Thus, clinical suspicion of ODD is important in order to diagnose papilledema and prevents unnecessary interventions. Although most of eyes with ODD have normal or thinner RNFL thickness, some of these eyes can have thicker RNFL thickness.[scielo.br]
  • Laser treatment [15] [16] or photodynamic therapy [17] or other evolving therapies [18] may prevent this complication. Prognosis [ edit ] Optic nerve damage is progressive and insidious.[en.wikipedia.org]

References

Article

  1. Auw-Haedrich C, Staubach F, Witschel H. Optic disk drusen. Surv Ophthalmol. 2002; 47(6):515-532.
  2. Tugcu B, Ozdemir H. Imaging Methods in the Diagnosis of Optic Disc Drusen. Turk J Ophthalmol. 2016; 46(5):232-236.
  3. Flores-Rodriguez P, Gili P, Martin-Rios MD. Ophthalmic features of optic disc drusen. Ophthalmologica. 2012; 228(1):59-66.
  4. Lee KM, Woo SJ, Hwang JM. Differentiation between optic disc drusen and optic disc oedema using fundus photography. Acta Ophthalmol. 2017.
  5. Yung M, Klufas MA, Sarraf D. Clinical applications of fundus autofluorescence in retinal disease. Int J Retina Vitreous. 2016; 2:12.
  6. Almog Y, Nemet A, Nemet AY. Optic disc drusen demonstrate a hyperechogenic artifact in B mode ultrasound. J Clin Neurosci. 2016; 23:111-119.
  7. Sato T, Mrejen S, Spaide RF. Multimodal imaging of optic disc drusen. Am J Ophthalmol. 2013; 156(2):275-282.e271.

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Last updated: 2019-06-28 11:45