Elsevier

Survey of Ophthalmology

Volume 47, Issue 6, November–December 2002, Pages 515-532
Survey of Ophthalmology

Major review
Optic Disk Drusen

https://doi.org/10.1016/S0039-6257(02)00357-0Get rights and content

Abstract

Optic disk drusen occur in 3.4 to 24 per 1,000 population and are bilateral in approximately 75%. Disturbance in the axonal metabolism in the presence of a small scleral canal—regardless of eyelength—is considered responsible for the development. The drusen increase in size, becoming more visible with age due to continuing calcium apposition, and they are associated with visual field defects in a considerable number of patients. Patients do not usually notice these defects, despite their progressive nature over the years, and this indicates an insidious course. A correct diagnosis of optic disk drusen is mandatory, although effective treatment is not yet available. It is most important to differentiate optic disk drusen from papilledema in order to avoid unnecessary neurological examinations, but also to avoid overlooking genuine neurologic disorders. Because optic disk drusen can cause severe visual field defects, patients require individual consultation regarding work issues and whether or not to drive. Optic disk drusen can be accompanied by vascular complications as well. In some cases these vascular changes—for example, choroidal neovascularization—are treatable. Patients with optic disk drusen should undergo regular visual field, IOP, and nerve fiber layer examinations. In patients with deteriorating visual field and borderline IOP, we recommend antiglaucomatous therapy.

Section snippets

History

The term Druse is originally a German word and the singular form of Drusen, applying to a crystal-lined hollow space in a rock, widely used in the mining industry in the 16th century. There sometimes seems to be some confusion with the word Drüse, meaning gland. The initial description of drusen of the optic disk was a histological one by Müller in 1858, 7 years after the invention of the ophthalmoscope by Helmholtz. He described crystalline, fatty-appearing granules in the optic nerve head148

Inheritance

Many articles have referred to the inheritance of optic disk drusen.21, 120, 122, 125, 215 Lorentzen examined 909 relatives of patients with optic disk drusen and found 28 affected relatives (3.1%). This is approximately 10 times the incidence in the population at large. He came to the conclusion that optic disk drusen are inherited in “an irregularly dominant fashion.”124 Recently, an investigation on 7 unrelated patients with optic disk drusen and their relatives was carried out.3 The authors

Optic disk appearance, incidence, and bilaterality

Optic disks harboring drusen change their appearance with age. Young children with optic disk drusen usually present with elevated optic disks due to buried drusen (Fig. 1), which are located more deeply in the papilla than are visible drusen.16 Few authors have published photographs or descriptions with clear evidence of the age-related increase in visibility and size of optic disk drusen over a period of 1 to 15 years,32, 92, 97, 120, 141, 154 not always associated with a deterioration in

Anatomical predisposition

In the mid 1980s it became obvious that the scleral canal and optic disk of eyes with drusen are considerably smaller than those of normal eyes,102, 150 indicating some degree of mesodermal disturbance. This is in accordance with the fact that optic disk drusen are rarely found in blacks,20, 92, 95, 132, 190, 235 whose scleral canal size is often larger than that of whites.36, 131

Theoretically, one might expect a smaller scleral canal in hypermetropic eyes and therefore a higher incidence of

Fundoscopy

In young children, superficially visible drusen are rare, while the optic disks with drusen appear full, without cupping.57 In contrast to papilledema, the nerve fiber layer is not swollen, but hemorrhage can be present. In those cases with elevated optic disks, the use of a direct ophthalmoscope's semicircular light beam,57 or indirect illumination of the disk by aiming the lightbeam adjacent to the suspected drusen54 have proven to be valuable tools for diagnosis because drusen reflect this

Vascular Anomalies and Complications

Optic disk drusen are quite often associated with various anomalies of the ocular arteries and veins. In most cases these vascular anomalies do not lead to impaired visual function.18

Association of Optic Disk Drusen with Other Ocular or Systemic Disease

Numerous ocular and systemic disorders have been found in association with optic disk drusen Table 1, Table 2. It seems, however, most likely that the only anomalies truly associated with optic disk drusen are retinitis pigmentosa and angioid streaks with or without pseudoxanthoma elasticum.142

Patient Management and Treatment

Although no effective treatment of optic disk drusen has been established, regular examinations should be carried out in order to recognize or rule out treatable accompanying disorders (e.g., elevated intraocular pressure or subretinal neovascularization). Once defects in the visual field are present due to the drusen, regular tonometry and visual field examination is mandatory because the predamaged optic nerve fibers are more sensitive to elevated or even normal IOP as compared to undamaged

Method of Literature Search

A search of the Medline database was conducted using the key words optic disc drusen, hyaline bodies, drusen and optic nerve. Additional references were culled from the bibliography of these references. References spanned the period 1858 to May 2001. These references were evaluated for their pertinence to the topic. Articles that were repetitive were omitted from consideration. Articles in English, German, and French were used by abstract and text, those in other languages were used by

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    The authors reported no proprietary or commerical interest in any product mentioned or concept discussed in this article. The authors thank Ms. Carole Cürten for reading the manuscript and Dr. Libor Putna for translating parts of two Czech articles.

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