Optic disk drusen associated with congenital peripapillary staphyloma

Maurílio Roriz Dias Wagner Ghirelli About the authors

Resumo

Nós descrevemos uma rara associação entre estafiloma peripapilar congênito e drusa de disco óptico em uma mulher de 47 anos de idade e visão normal.

Descritores:
Drusas do disco óptico; Doenças da esclera; Retina; Ultrassonografia; Estafiloma peripapilar congênito; Retinografia; Autofluorescência

Abstract

We described a rare association between peripapillary staphyloma and optic disk drusen in a woman with 47 years old and normal vision.

Keywords:
Optic disk drusen; Scleral diseases; Retina; Ultrasonography; Congenital peripapillary staphyloma; Retinography; Autofluorescence

Introduction

Optical disc drusen are acellular deposits located both intracellularly and extracellularly, first described by Muller in 1858. (11 Chang MY, Pineles SL. Optic disk drusen in children. Surv Ophthalmol. 2016; 61(6):745-58.,22 Muller H. Anatomische beitrage zur ophthalmologie. Arch F Ophthalmol. 1858;4:363-88.) Optical disk drusen occur in 3.4 to 24 per 1000 inhabitants, and are bilateral in approximately 75%. (33 Auw-Haedrich C, Staubach F, Witschel H. Optic disk drusen in children. Surv Ophthalmol. 2002;47(6):515-32.) Commonly asymptomatic, they may present with peripheral visual field deterioration and complications such as choroidal neovascularization, anterior ischemic optic neuropathy, retinal central artery occlusion, retinal central vein occlusion, subretinal neovascularization, and retinal hemorrhages. (33 Auw-Haedrich C, Staubach F, Witschel H. Optic disk drusen in children. Surv Ophthalmol. 2002;47(6):515-32.)

Optic nerve drusen have been described as occurring associated with ophthalmic artery aneurysm, hamartoma astrocytic, rotator atrophy, Birdshot chorioretinopathy, Cacchi-Ricci syndrome, congenital nocturnal blindness, familial macular dystrophy, glaucoma, nanophthalmos, central peripapillary serous retinopathy, pigmented retinochoroidal paravenosa atrophy, and thick cornea. (33 Auw-Haedrich C, Staubach F, Witschel H. Optic disk drusen in children. Surv Ophthalmol. 2002;47(6):515-32.) In the present study we will describe a case of optic nerve druse associated to peripapillary staphyloma (a condition in which an peripapillary ecleral thinning becomes ectasic. (44 Curtin BJ. The posterior staphyloma of pathologic myopia. Trans Am Ophthalmol Soc. 1977;75:67-86.) The relationship between staphyloma and pathological myopia is widely described, with a 23% incidence of staphyloma in patients with pathological myopia (55 Verkicharla PK, Ohno-Matsui, Saw SM. Current and predicted demographics of high myopia and an update of its associated pathological changes. Ophthalmic Physiol Opt. 2015;35(5):465-75.), but this is the first description of optic nerve druse associated to staphyloma in a patient without pathological myopia.

Case Report

A 47-year-old white female, cleaning assistant, went to the ambulatory complaining of difficulty to read for two months. Visual acuity was bilateral (uncorrected) 20\20, there were no changes in both eyes to anterior biomicroscopy, intraocular pressure of 15 mmHg in the right eye and 14 mmHg in the left eye, retinal mapping in the right eye without changes, and mapping of retina of the left eye with the presence of optic nerve drusen and peripapillary staphyloma with no other changes (Figure 1). Fluorescein angiography (Figure 2), ocular ultrasonography (Figure 3) and visual campimetry 24.2 Humphfrey (Figure 4) were performed. Fluorescein angiography showed autofluorescent areas prior to intravenous injection of contrast, ultrasound demonstrated calcification, and campimetry showed increased blind spot, all of which were characteristic of this condition. (33 Auw-Haedrich C, Staubach F, Witschel H. Optic disk drusen in children. Surv Ophthalmol. 2002;47(6):515-32.)

Figura 1
Peripapillary staphyloma and drusen of the optic nerve.
Figure 2
Autofluorescent areas characteristic of drusen of the optic nerve.
Figure 3
Presence of peripapillary staphyloma and hyperechoic lesion with acoustic shadow (white arrow) characteristic of optic nerve drusen.
Figure 4
Visual field of the LE with increased blind spot characteristic of optic nerve druse.

Discussion

The peripapillary staphyloma belongs to the group of congenital anomalies of the papilla, and is extremely rare and differs from the papillary staphyloma of the high myopia, since the refraction found in the congenital ones is a mild myopia. (66 Brodsky MC. Congenital optic disk anomalies. Surv Ophthalmol. 1994;39(2):89-112.)

To our knowledge, this is the first description of the association of peripapillary staphyloma and the druse of the optic nerve. In this case, the druse is unilateral, that is, only on the side affected by the staphyloma, so that the anatomical question seems to have been related to the appearance of the drusen.

The anatomical predisposition is one of the hypotheses for the pathogenesis of the drusen. (33 Auw-Haedrich C, Staubach F, Witschel H. Optic disk drusen in children. Surv Ophthalmol. 2002;47(6):515-32.) The first consideration would be the presence of a small scleral tunnel in the optic nerve head. Secondly, the vascular change in the papilla exit that would bring protein transudation, the vascular change was observed in our case. (33 Auw-Haedrich C, Staubach F, Witschel H. Optic disk drusen in children. Surv Ophthalmol. 2002;47(6):515-32.)

Another fact to be considered in the anatomical changes is the existence of contractile movements in the peripapillary staphyloma that may be related to the difference between the intraocular pressure and the CSF or contraction of the ocular muscles. (77 Cao XS, Peng XY, You QS, Jiang LB, Jamas JB. Congenital contractile peripapillary staphyloma with rhegmatogenicus retinal detachment. Retin Cases Brief Rep. 2016; Sept 23. [Epub ahead of print])

In conclusion, this case demonstrates an extremely rare association, but with the development of imaging techniques the presence of optic nerve drusen in congenital peripapillary staphyloma may be more diagnosed.

  • The presente study was carried out at Centro de Oftalmologia Tadeu Cvintal, São Paulo, SP, Brazil.

References

  • 1
    Chang MY, Pineles SL. Optic disk drusen in children. Surv Ophthalmol. 2016; 61(6):745-58.
  • 2
    Muller H. Anatomische beitrage zur ophthalmologie. Arch F Ophthalmol. 1858;4:363-88.
  • 3
    Auw-Haedrich C, Staubach F, Witschel H. Optic disk drusen in children. Surv Ophthalmol. 2002;47(6):515-32.
  • 4
    Curtin BJ. The posterior staphyloma of pathologic myopia. Trans Am Ophthalmol Soc. 1977;75:67-86.
  • 5
    Verkicharla PK, Ohno-Matsui, Saw SM. Current and predicted demographics of high myopia and an update of its associated pathological changes. Ophthalmic Physiol Opt. 2015;35(5):465-75.
  • 6
    Brodsky MC. Congenital optic disk anomalies. Surv Ophthalmol. 1994;39(2):89-112.
  • 7
    Cao XS, Peng XY, You QS, Jiang LB, Jamas JB. Congenital contractile peripapillary staphyloma with rhegmatogenicus retinal detachment. Retin Cases Brief Rep. 2016; Sept 23. [Epub ahead of print]

Publication Dates

  • Publication in this collection
    May-Jun 2018

History

  • Received
    23 May 2017
  • Accepted
    21 Oct 2017
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