Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene

Sir,

Pseudoxanthoma elasticum (PXE, OMIM no. 264800) is a recessive disorder characterised by dystrophic calcification of elastic fibers in connective tissues with primary involvement of the skin. Mutations in the ABCC6 gene on chromosome 16p13.1, encoding an ATP-binding cassette transmembrane transporter protein, are associated with PXE.¹ Ocular manifestations ranging from angioid streaks, disc drusen, peau d’orange and focal chorioretinal comettial lesions are seen, although these do not appear to affect visual function. Visual loss can occur secondary complications such as choroidal neovascularization from angioid streaks or choroidal rupture from minor ocular trauma. Approximately 10–15% of patients develop various forms of pattern macular dystrophy.² Retinal function was thought to be unaffected in PXE;³ until recently, a small number of electrophysiological studies demonstrated generalised retinal dysfunction associated with PXE on electroretinogram (ERG).^{4, 5} We report the unusual ophthalmological presentation of a patient with a novel ABCC6 mutation.

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