Sir,

We report the first case of a choroidal neovascular membrane (CNV) in a patient with late-onset retinal degeneration (L-ORD) successfully treated with intravitreal Ranibizumab (Lucentis).

Case report

A 61-year-old man, heterozygous for the Ser163Arg mutation in C1QTNF5, presented with a 4-week history of distortion in his right eye. His visual acuity (VA) was 68 ETDRS letters OD and 82 letters OS. Fundus fluorescein angiography (FFA) showed a juxtafoveal classic CNV (Figure 1) and optical coherence tomography (OCT) confirmed intra-retinal oedema over the area of the CNV (Figure 1). Owing to the reported poor outcome from the use of focal argon laser photocoagulation in such cases,1 the patient received an intravitreal injection of Ranibizumab (0.5 mg). This was followed by two further injections at 4-weekly intervals. Four weeks after receiving the third treatment, the VA was 59 letters OD and 85 letters OS. An FFA showed closure of the lesion (Figure 2) and resolution of the intraretinal oedema on OCT (Figure 2). At the last follow-up visit (month 12), the VA was 57 letters OD and 85 letters OS (loss of 11 ETDRS letters from baseline), and FFA and OCT showed continued inactivity of the lesion. No additional Ranibizumab treatments had been required during this time. During follow-up, fundus autofluorescence imaging showed no significant enlargement of the areas of chorioretinal atrophy in the paramacular area (Figure 3).

Figure 1
figure 1

Fundus fluorescein angiogram of the right eye (30 s) demonstrating a classic juxtafoveal choroidal neovascular membrane. The inset represents a spectral domain OCT scan (150°) and shows sub- and intra-retinal thickening and intra-retinal oedema over the area of the CNV.

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Figure 2
figure 2

Fundus fluorescein angiogram of the right eye (30 s) showing closure of the CNV. The inset represents a spectral domain OCT scan (150°) and shows resolution of the intra-retinal thickening and oedema.

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Figure 3
figure 3

Macular fundus autofluorescence images at (a) baseline and (b) month 12.

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Comment

L-ORD is an autosomal dominant retinal dystrophy caused by a mutation (Ser163Arg) in the protein C1QTNF5, which leads to the formation of a thick extracellular sub-RPE deposit.2, 3 Early features of the disease include nyctalopia and fine macular drusen, followed later by peripheral retinal and macular atrophy. Patients are also predisposed to choroidal neovascularisation, usually by the sixth decade.4 If untreated, the natural history of the lesions is poor.1 To date, only laser photocoagulation of lesions in three eyes has been reported, with poor results.1 We report the successful 12-month outcome of a juxtafoveal CNV treated with intravitreal Ranibizumab. Closure of the lesion was achieved after three treatments, with stabilisation of vision and no evidence of recurrence at month 12. Intravitreal Ranibizumab appears to be safe and more effective than laser photocoagulation in the treatment of CNV in patients with L-ORD.