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(Investigative Ophthalmology and Visual Science. 2007;48:4250-4256.)
© 2007 by The Association for Research in Vision and Ophthalmology, Inc.
DOI:  10.1167/iovs.05-1604
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Pseudoxanthoma Elasticum with Generalized Retinal Dysfunction, a Common Finding?

Isabelle Audo,1,2,3,4 Olivier M. Vanakker,4,5,6 Alaric Smith,7 Bart P. Leroy,5,8 Anthony G. Robson,2 Sharon A. Jenkins,2 Paul J. Coucke,5 Alan C. Bird,2 Anne De Paepe,5 Graham E. Holder,2 and Andrew R. Webster2,3

1From the Laboratoire de Physiopathologie Cellulaire Moléculaire et de la Rétine, Institut National de la Santé et de la Recherche Médicale, Université Pierre et Marie Curie, Paris, France; 2Moorfields Eye Hospital, London, United Kingdom; the 3Division of Molecular Genetics, Institute of Ophthalmology, University College London, London, United Kingdom; the 5Center for Medical Genetics and the 8Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium; the 6Fund for Scientific Research, Flanders, Belgium; and the 7Victoria Eye Unit, County Hospital, Hereford, United Kingdom.

PURPOSE. Pseudoxanthoma elasticum (PXE; [MIM 264800]) is an autosomal recessive systemic disorder characterized by progressive degeneration and calcification of elastic fibers in connective tissue. The phenotype is variable, with cutaneous, vascular, and ophthalmic abnormalities. The disorder is a consequence of mutations in the ABCC6 gene. Visual impairment is mainly due to neovascular complications, and retinal function is usually assumed to be normal. The purpose of this study was the objective assessment of macular and generalized retinal function in unrelated patients with clinical and/or genetic features of PXE.

METHODS. Four unrelated patients carrying a clinical diagnosis of PXE presented with unexplained visual loss. After ophthalmic examination, retinal and macular function was assessed by full-field electroretinogram (ERG) and pattern ERG, respectively, according to ISCEV (International Society for Clinical Electrophysiology of Vision) recommendations. Molecular analysis of the ABCC6 gene was performed in three patients by dHPLC (denaturing high-performance liquid chromatography) and direct sequencing.

RESULTS. Full-field ERG revealed significant reduction of cone and rod responses in all four patients. Funduscopic appearances varied. Three patients were found to carry ABCC6 mutations. In case 1, a novel nonsense mutation (p.L1474X) was detected in exon 31 paired with a splice-site mutation. Mutation analyses in cases 3 and 4 revealed previously reported ABCC6 mutations.

CONCLUSIONS. These findings suggest that retinal dysfunction in PXE may not be uncommon. The mechanism underlying retinal dysfunction is unknown but may result from metabolic disturbance leading to retinal toxicity with a possible role of modifying genetic or environmental factors rather than specific ABCC6 mutations.






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