Choroidal neovascular membrane (CNVM) is a rare cause of visual impairment in paediatric populations and predominantly affects individuals aged over 50. CNVM is defined as the pathologic growth of new abnormal blood vessels which extend from the choroid and break through Bruch’s membrane into the retinal and sub-retinal pigment epithelium space [1]. The aetiology of paediatric CNVM differs significantly from adult cases, with idiopathic and inflammatory chorioretinal diseases being the most common [2].
Optic disc drusen are acellular, calcified deposits within the optic nerve head, and represent the most common cause of pathologic mineralisation of the optic nerve. This may result in disc elevation and blurred margins, producing a pseudopapilloedema appearance [3]. Although optic disc drusen are well recognised to cause optic nerve related visual field defects, their association with CNVM is very rare [4], particularly in the paediatric population. This case describes a child with longstanding bilateral optic disc drusen who developed acute unilateral visual loss due to CNVM secondary to optic disc drusen.
Case report
A 13-year-old male with hypermetropia was referred to ophthalmology following a routine optician examination that identified asymptomatic bilateral optic disc elevation with blurred margins. On presentation, best-corrected visual acuities were 6/9.5 in the right eye and 6/15 in the left eye. He reported intermittent headaches occurring up to three times daily, predominantly during school hours, which improved with simple analgesia and full-time glasses wear. His past medical history was significant only for hypermetropia and asthma. On fundus examination, he had slightly indistinct disc margins bilaterally with the disc colour healthy and pink, which in the context of hypermetropia was initially considered physiological. Visual field testing, B-scan ultrasonography and baseline orthoptic assessment were arranged. Over time, his headaches increased in severity and were associated with dizziness, relieved by resting in a dark environment. B-scan ultrasonography revealed bilateral optic disc drusen. Visual field testing demonstrated a left eye superonasal defect, attributed to the drusen. Annual visual field monitoring was arranged, and defects remained stable.
Four years after initial presentation, he was re-referred by his optometrist following the sudden onset of a black spot in the vision of his left eye. He denied ocular pain, headache, photophobia, redness or systemic symptoms including joint pain or skin changes. Visual fields were normal in the right eye; however, the left eye demonstrated superonasal and inferotemporal defects, best-corrected visual acuities were 6/5 in the right eye and 1/60 in the left eye. Fundoscopy revealed bilateral disc elevation consistent with optic disc drusen and cystoid macular oedema at the left posterior pole.
Extensive investigations were undertaken to exclude inflammatory, infective and autoimmune causes of macular oedema, including testing for toxoplasma, herpes simplex virus, autoimmune markers and human leukocyte antigen B27 (HLA-B27); all results were negative.
Figure 1: OCT on presentation.
On first presentation, optical coherence tomography (OCT) demonstrated a left eye subretinal neovascular membrane (Figure 1). The patient was treated with two intravitreal injections of aflibercept (Eylea) four weeks apart. Following the second injection, visual acuity in the left eye improved to 6/36, with corresponding anatomical improvement on OCT (Figure 2).
Figure 2: OCT after second anti-VEGF injection.
Discussion
Choroidal neovascular membrane secondary to optic disc drusen is rare in paediatric populations, accounting for approximately 3.2% of paediatric CNVM cases [2]. More common aetiologies include idiopathic (38.2%), posterior uveitis or inflammatory chorioretinal disease (19.4%), and myopia (18.4%) [2]. The proposed pathophysiology involves a combination of mechanical, vascular and biochemical mechanisms. Optic disc drusen exert mechanical compression on adjacent peripapillary retinal and choroidal vasculature, resulting in venous congestion and focal retinal hypoperfusion.
This chronic vascular compromise leads to local retinal and choriocapillaris ischaemia, triggering upregulation of vascular endothelial growth factor (VEGF), promoting endothelial proliferations and increased vascular permeability. In parallel, repetitive mechanical stress and ischaemic injury may disrupt the integrity of Bruch’s membrane and the retinal pigment epithelium, creating a permissive environment for abnormal choroidal vessels to penetrate the subretinal or sub-retinal pigment epithelium space, culminating in the formation of a choroidal neovascular membrane [1]. This case underscores the diagnostic challenge of differentiating optic disc drusen from true papilloedema in paediatric patients, particularly when presenting with headaches.
Incorrect diagnosis may lead to unnecessary neuroimaging, invasive diagnostic procedures or delays in appropriate ophthalmic follow-up. Ancillary investigations such as B-scan ultrasonography and OCT are therefore essential for accurate diagnosis and longitudinal monitoring.
Management options for CNVM include photodynamic therapy, laser photocoagulation and intravitreal anti-VEGF injections, such as aflibercept, ranibizumab and bevacizumab [1]. The objective of anti-VEGF therapy is to suppress neovascular activity and reduce persistent macular oedema, thereby minimising the risk of progressive and irreversible damage to the retinal pigment epithelium [5]. Timely intervention in patients with CNVM secondary to optic disc drusen is of paramount importance, particularly in the paediatric population, in whom treatment response is often more favourable. Intravitreal anti-VEGF therapy has demonstrated a strong efficacy profile and is generally well tolerated in children [3], supporting its use as a safe and effective management strategy in this cohort.
Conclusion
Choroidal neovascular membrane secondary to optic disc drusen is a rare but potentially sight-threatening complication in paediatric patients, that may occur years after initial diagnosis. This case highlights the importance of recognising optic disc drusen as a potential risk factor for secondary choroidal neovascularisation and maintaining long-term ophthalmic surveillance in affected children. Intravitreal anti-VEGF therapy proved to be an effective management approach, supporting its role in paediatric cases where evidence remains limited. Increased clinical awareness of this rare association may facilitate earlier diagnosis, more appropriate follow-up strategies and improved visual outcomes for paediatric patients with optic disc drusen.
References
1. Barth T, Zeman F, Helbig H, et al. Etiology and treatment of choroidal neovascularization in pediatric patients. Eur J Ophthalmology 2016;26(5):388–93.
2. Finn AP, Fujino D, Lum F, Rao P. Etiology, treatment patterns, and outcomes for choroidal neovascularization in the pediatric population: an intelligent research in sight (IRIS®) registry study. Ophthalmol Ret 2022;6(2):130–8.
3. Alkhabaz A, Pujari R, Ren Y, et al. Optic disc drusen-associated neovascularization: a systematic review. Surv Ophthalmology 2025;70(6):1191–6.
4. Delas B, Almudí L, Carreras A, Asaad M. Bilateral choroidal neovascularization associated with optic nerve head drusen treated by antivascular endothelial growth factor therapy. Clin Ophthalmol 2012;6:225–30.
5. Ang YL, Vadivelu K, Jaya Y, Shah S. Treatment and monitoring of choroidal neovascular membrane associated with optic disc drusen in paediatric patients. EURETINA 2021 [Online]:
https://euretina.org/resource/abstract_2021
_treatment-and-monitoring-of-choroidal-neovascular
-membrane-associated-with-optic-disc-drusen-in-paediatric-patients/
[Link last accessed April 2026]
Declaration of competing interests: None declared.
