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TitelAtypical combination of Pseudoxanthoma Elasticum and Macular Atrophy
Abstract Nr.241
DoelPseudoxanthoma Elasticum (PXE) is an autosomal recessive systemic disorder caused by mutations in the ABCC6 gene, and primarily affects the oculocutaneous and cardiovascular systems. However, the phenotype, including the ophthalmological manifestations, is highly variable. Although pattern dystrophies have been recognised in PXE visual impairment is usually due to neovascular complications.
MethodesThree siblings of a family with a clinical diagnosis of PXE presented with bilateral progressive visual loss due to macular atrophy in the absence of subretinal neovascularisation. They underwent a full ophthalmological work-up including autofluorescence imaging and Spectralis OCT.
ResultatenThe three brothers showed a very similar fundus appearance. Apart from the classic PXE characteristics including angioid streaks, peau d’orange and comets, they all had atrophic macular lesions which progressed during a 10-year period of follow-up to a well demarcated macular atrophy. There was no evidence of subretinal neovascularisation on imaging or examination. Autofluorescence imaging demonstrates a reticular pattern within the area of atrophy. Electrodiagnostic testing performed in one sibling revealed severe macular dysfunction in both eyes without any evidence of generalized retinal dysfunction.
ConclusieA family with the atypical combination of pseudoxanthoma elasticum and a macular atrophy which reveals a reticular pattern dystrophy on autofluorescence imaging is described.
Auteur 1
NaamDE ZAEYTIJD
InitialenJ
InstituutMoorfields Eye Hospital
StadLondon, United Kingdom
Auteur 2
NaamWebster
InitialenAR
InstituutMoorfields Eye Hospital & Institute of Ophthalmology, University college of London
StadLondon, United Kingdom
Auteur 3
NaamTufail
InitialenA
InstituutMoorfields Eye Hospital
StadLondon, United Kingdom
Auteur 4
NaamEgan
InitialenCA
InstituutMoorfields Eye Hospital
StadLondon, United Kingdom
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