Skip to main content
NCBI home page
BMJ Case Reports logoLink to BMJ Case Reports
. 2019 Jan 14;12(1):bcr-2018-228134. doi: 10.1136/bcr-2018-228134

Paediatric case of peripapillary choroidal neovascularisation associated with optic disc drusen treated with aflibercept

Weh Loong Gan 1,2, Vernon W Long 1,2
PMCID: PMC6340554  PMID: 30642868

Abstract

Peripapillary choroidal neovascularisation (PPCNV) associated with optic disc drusen is a rare complication that can result in severe vision impairment in children. We report the first case of paediatric PPCNV secondary to optic disc drusen successfully treated with intravitreal aflibercept. A 6-year-old girl presented with a one week history of reduced vision in her right eye with best-corrected visual acuity of 20/500. Fundus examination revealed bilateral elevated discs with a peripapillary pigmentary lesion in the right eye. Optical coherence tomography of the right eye showed marked subfoveal fluid. Both B-scan ultrasonography and fundus autofluorescence demonstrated findings consistent with optic disc drusen. Diagnosis of PPCNV was further confirmed on fluorescein fundus angiography. The child received three intravitreal aflibercept injections with complete resolution of the subfoveal fluid. Her visual acuity improved to 20/25 with no recurrence at a 16-month follow-up. No adverse side effects were reported.

Keywords: macula, retina

Background

Peripapillary choroidal neovascularisation (PPCNV) associated with optic disc drusen is a rare complication that can result in severe vision impairment in children.1 Treating this subgroup of patients can be challenging because of the paucity of the natural history data and lack of sufficient clinical trials in children.

In recent years, several case reports2–8 have been published illustrating the successful use of anti-vascular endothelial growth factor (anti-VEGF) agents, such as ranibizumab and bevacizumab, for the treatment of PPCNV secondary to optic disc drusen in children. We report the first case of successful treatment using the newer intravitreal therapy, aflibercept.

Case presentation

A 6-year-old girl presented with a one week history of decreased visual acuity in her right eye. Her best-corrected visual acuity (BCVA) was 20/500 in the right eye and 20/20 in the left eye. There were no other associated ocular or systemic symptoms including headache, nausea or vomiting. There was no existing or past medical history. There is also no family history of any ocular problems.

Slit-lamp examination of the anterior segment was unremarkable including normal intraocular pressure. Dilated fundus examination revealed bilateral elevated discs with an ill-defined peripapillary pigmentary lesion in the right eye (figure 1). There was no associated haemorrhage, cotton wool spots or exudate in either eye. Cranial nerve and neurological assessment of the child were normal.

Figure 1.

Figure 1

Open in a new tab

Optos colour fundus photographs (top) showing a peripapillary pigmented lesion in the right eye with bilateral disc elevations. FAF (below) showing hyperfluorescent spot in the discs consistent with optic disc drusens. FFA, fluorescein fundus angiography.

Investigations

CT head scan confirmed no mass lesion. Both B-scan ultrasonography and fundus autofluorescence demonstrated areas of hyperfluorescence in the disc consistent with optic disc drusen (figure 1). Diagnosis of active PPCNV was confirmed on the fluorescein fundus angiography (FFA), which showed evidence of leakage (figure 2). Optical coherence tomography (OCT) showed marked intraretinal and subfoveal fluid in the right eye (figure 3).

Figure 2.

Figure 2

Open in a new tab

FFA of the right eye showing evidence of leakage around the disc consistent with active peripapillary choroidal neovascularisation. FFA, fluorescein fundus angiography.

Figure 3.

Figure 3

Open in a new tab

OCT of the right eye showing marked intraretinal and subfoveal fluid at presentation. OCT, optical coherence tomography.

Treatment

Following discussion of treatment options with the parents, the child received 3 monthly injections of intravitreal aflibercept (2 mg in 0.05 mL) under general anaesthesia.

Outcome and follow-up

Her visual acuity improved to 20/200 after the first injection and stabilised at 20/25 after the third injection. The subfoveal fluid resolved with no recurrence at a 16-month follow-up (figure 4). No adverse ocular or systemic side effects were reported.

Figure 4.

Figure 4

Open in a new tab

OCT of the right eye showing resolution of the subfoveal fluid at 16 months follow-up. OCT, optical coherence tomography.

Discussion

Gass 9 reported the first case of paediatric CNV with optic disc abnormalities in a 4-year-old child with optic disc drusen. CNV secondary to optic disc drusen is thought to occur more frequently in the paediatric population compared with adults.10 Optic disc drusen are now recognised as a common association with CNV in children. Studies have reported between 8%–18% of children with CNV have concommitant optic disc drusen.11 12 The location of subretinal CNV associated with optic disc drusen is usually peripapillary and can impair vision as a result of extension of subfoveal fluid.13

Historically, several treatment modalities have been proposed including observation,14 laser photocoagulation,15 photodynamic therapy16 17 and surgery,18 19 all with variable outcomes. Recently, anti-VEGF agents have been increasingly used as the first line treatment for CNV in paediatric cases.12 Several cases have been reported in the literature describing the successful use of anti-VEGF agents including intravitreal ranibizumab and bevacizumab for the treatment of CNV associated with optic disc drusen in childhood.2–8 We report the first case in the literature of a successful treatment using the newer intravitreal agent, aflibercept.

Table 1 illustrates the demographic characteristics and outcomes of published case reports on the use of anti-VEGF agents for the treatment of PPCNV associated with optic disc drusen in children. The majority of patients achieved excellent visual outcomes of 20/25 and better with complete resolution of subretinal fluid on OCT following anti-VEGF therapy. One patient had a recurrence of subretinal fluid at a 2-month follow-up which resolved with subsequent intravitreal injection, with no further recurrences for 5 years. The number of injections varied from one to three injections. Most patients responded well to a single intravitreal treatment and the number of injections required to stabilise the disease was lower compared with adults.20 Young patients are thought to have a more favourable prognosis because of superior retinal pigment epithelium pump function compared to adults.13

Table 1.

Demographic characteristics and outcomes of published case reports on the use of anti-VEGF agents for the treatment of PPCNV associated with optic disc drusen in children

Author (year) Gender Age, years Anti-VEGF agent Number of Injections Baseline BCVA Final BCVA Recurrence Follow-up duration (months) Successful treatment Complications
Gan et al (2018) F 6 Aflibercept 3 20/500 20/25 No 16 Yes No
Benouaich et al 2 (2016)* F 9 Ranibizumab 2 20/200 20/25 At 2 months 60 Yes No
Benouaich et al 2 (2016)* F 9 Ranibizumab 1 20/25 20/20 No 48 Yes No
Alkin et al 3 (2014) F 13 Ranibizumab 1 20/80 20/25 No 9 Yes No
Baillif et al 4 (2013) M 5 Ranibizumab 1 20/60 20/25 No 12 Yes No
Jedrzejczak-Strózniak et al 5 (2013) F 13 Ranibizumab 1 20/50 20/20 No 30 Yes No
Delas et al 6 (2012) F 12 Ranibizumab 2 HM 20/60 No 12 Yes No
Gregory-Evans et al 8 (2009) M 11 Ranibizumab 3 20/100 20/20 No 6 Yes No
Open in a new tab

*Bilateral case of PPCNV associated with optic disc drusen.

anti-VEGF, antivascular endothelial growth factor; BCVA, best-corrected visual acuity; PPCNV, peripapillary choroidal neovascularisation.

In view of the poor BCVA at presentation and significant intraretinal and subretinal fluid threatening vision, we decided to commence the patient on intravitreal aflibercept. Aflibercept is shown to have a greater affinity for VEGF and a longer half-life compared with ranibizumab.21 Improvement in BCVA was observed in our patient after the first injection and her BCVA stabilised after three injections. Patients with poor BCVA at presentation tend to require more than one injection to achieve maximal visual improvements.

Anti-VEGF therapy seems to be well tolerated in children for the treatment of CNV with no reported adverse effects at 1-year follow-up based on recent studies.12 20 Similarly, there were no ocular or systemic complications reported in all cases including our patient for a follow-up period between 6 months and 5 years.

Learning points.

  • Intravitreal aflibercept is effective in treating peripapillary choroidal neovascularisation (PPCNV) associated with optic disc drusen and is well tolerated in children.

  • Excellent anatomical and visual outcomes can be achieved with anti-vascular endothelial growth factor (anti-VEGF) therapy in children with symptomatic PPCNV associated with optic disc drusen. Recurrence of the intraretinal and subfoveal fluid is uncommon.

  • Patients with poor best-corrected visual acuity at presentation tend to require more than one intravitreal anti-VEGF injection to achieve maximal visual improvements.

Footnotes

Contributors: WLG: involved in case write-up, literature search and manuscript submission. VWL: involved in patient care and management.

Funding: The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

Competing interests: None declared.

Patient consent: Parental/guardian consent obtained.

Provenance and peer review: Not commissioned; externally peer reviewed.

References

  • 1. Sivaprasad S, Moore AT. Choroidal neovascularisation in children. Br J Ophthalmol 2008;92:451–4. 10.1136/bjo.2007.124586 [DOI] [PubMed] [Google Scholar]
  • 2. Benouaich X, Salmon L, Mahieu L, et al. Five-year follow-up of bilateral choroidal neovascularization secondary to optic nerve head drusen treated with ranibizumab in a nine-year-old girl. J Fr Ophtalmol 2016;39:e105–8. 10.1016/j.jfo.2015.01.026 [DOI] [PubMed] [Google Scholar]
  • 3. Alkin Z, Ozkaya A, Yilmaz I, et al. A single injection of intravitreal ranibizumab in the treatment of choroidal neovascularisation secondary to optic nerve head drusen in a child. BMJ Case Rep 2014;2014:bcr2014204456 10.1136/bcr-2014-204456 [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 4. Baillif S, Nguyen E, Colleville-El Hayek A, et al. Long term follow-up after a single intravitreal ranibizumab injection for choroidal neovascularisation secondary to optic nerve head drusen in a 5-year-old child. Graefes Arch Clin Exp Ophthalmol 2013;251:1657–9. 10.1007/s00417-012-2180-8 [DOI] [PubMed] [Google Scholar]
  • 5. Jedrzejczak-Strózniak M, Siwiec-Prościńska J, Gotz-Wieckowska A, et al. Unilateral extrafoveal choroidal eovascularization in a 13-year-old child with bilateral optic nerve drusen. Klin Oczna 2013;115:230–3. [PubMed] [Google Scholar]
  • 6. Delas B, Almudí L, Carreras A, et al. Bilateral choroidal neovascularization associated with optic nerve head drusen treated by antivascular endothelial growth factor therapy. Clin Ophthalmol 2012;6:225–30. 10.2147/OPTH.S22991 [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 7. Knape RM, Zavaleta EM, Clark CL, et al. Intravitreal bevacizumab treatment of bilateral peripapillary choroidal neovascularization from optic nerve head drusen. J Aapos 2011;15:87–90. 10.1016/j.jaapos.2010.10.011 [DOI] [PubMed] [Google Scholar]
  • 8. Gregory-Evans K, Rai P, Patterson J. Successful treatment of subretinal neovascularization with intravitreal ranibizumab in a child with optic nerve head drusen. J Pediatr Ophthalmol Strabismus 2009. 10.3928/01913913-20090818-03 [DOI] [PubMed] [Google Scholar]
  • 9. Gass JDM. Choroidal neovascular membranes: their visualisation and treatment. Trans Am Acad Ophthalmol Otolaryngol 1973;77:310–20. [PubMed] [Google Scholar]
  • 10. Mustonen E. Pseudopapilloedema with and without verified optic disc drusen. A clinical analysis I. Acta Ophthalmol 1983;61:1037–56. 10.1111/j.1755-3768.1983.tb01492.x [DOI] [PubMed] [Google Scholar]
  • 11. Rishi P, Gupta A, Rishi E, et al. Choroidal neovascularization in 36 eyes of children and adolescents. Eye 2013;27:1158–68. 10.1038/eye.2013.155 [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 12. Moosajee M, Abbouda A, Foot B, et al. Active surveillance of choroidal neovascularisation in children: incidence, aetiology and management findings from a national study in the UK. Br J Ophthalmol 2018;102:438–43. 10.1136/bjophthalmol-2017-310445 [DOI] [PubMed] [Google Scholar]
  • 13. Chang MY, Pineles SL. Optic disk drusen in children. Surv Ophthalmol 2016;61:745–58. 10.1016/j.survophthal.2016.03.007 [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 14. Harris MJ, Fine SL, Owens SL. Hemorrhagic complications of optic nerve drusen. Am J Ophthalmol 1981;92:70–6. 10.1016/S0002-9394(14)75910-0 [DOI] [PubMed] [Google Scholar]
  • 15. Delyfer MN, Rougier MB, Fourmaux E, et al. Laser photocoagulation for choroidal neovascular membrane associated with optic disc drusen. Acta Ophthalmol Scand 2004;82:236–8. 10.1111/j.1600-0420.2004.00231.x [DOI] [PubMed] [Google Scholar]
  • 16. Silva R, Torrent T, Loureiro R, et al. Bilateral CNV associated with optic nerve drusen treated with photodynamic therapy with verteporfin. Eur J Ophthalmol 2004;14:434–7. 10.1177/112067210401400512 [DOI] [PubMed] [Google Scholar]
  • 17. Chaudhry NA, Lavaque AJ, Shah A, et al. Photodynamic therapy for choroidal neovascular membrane secondary to optic nerve drusen. Ophthalmic Surg Lasers Imaging 2005;36:70–2. [PubMed] [Google Scholar]
  • 18. Sullu Y, Yildiz L, Erkan D. Submacular surgery for choroidal neovascularization secondary to optic nerve drusen. Am J Ophthalmol 2003;136:367–70. 10.1016/S0002-9394(03)00187-9 [DOI] [PubMed] [Google Scholar]
  • 19. Mateo C, Moreno JG, Lechuga M, et al. Surgical removal of peripapillary choroidal neovascularization associated with optic nerve drusen. Retina 2004;24:739–45. 10.1097/00006982-200410000-00009 [DOI] [PubMed] [Google Scholar]
  • 20. Henry CR, Sisk RA, Tzu JH, et al. Long-term follow-up of intravitreal bevacizumab for the treatment of pediatric retinal and choroidal diseases. J Aapos 2015;19:541–8. 10.1016/j.jaapos.2015.09.006 [DOI] [PubMed] [Google Scholar]
  • 21. Stewart MW, Rosenfeld PJ, Penha FM, et al. Pharmacokinetic rationale for dosing every 2 weeks versus 4 weeks with intravitreal ranibizumab, bevacizumab, and aflibercept (vascular endothelial growth factor Trap-eye). Retina 2012;32:434–57. 10.1097/IAE.0B013E31822C290F [DOI] [PubMed] [Google Scholar]

Articles from BMJ Case Reports are provided here courtesy of BMJ Publishing Group

RESOURCES