Titre | Atypical combination of Pseudoxanthoma Elasticum and Macular Atrophy |
Abstract Nr. | 241 |
But | Pseudoxanthoma 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. |
Méthodes | Three 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. |
Résultats | The 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. |
Conclusion | A family with the atypical combination of pseudoxanthoma elasticum and a macular atrophy which reveals a reticular pattern dystrophy on autofluorescence imaging is described. |
Nom | DE ZAEYTIJD |
Initiales | J |
Institut | Moorfields Eye Hospital |
Ville | London, United Kingdom |
Nom | Webster |
Initiales | AR |
Institut | Moorfields Eye Hospital & Institute of Ophthalmology, University college of London |
Ville | London, United Kingdom |
Nom | Tufail |
Initiales | A |
Institut | Moorfields Eye Hospital |
Ville | London, United Kingdom |
Nom | Egan |
Initiales | CA |
Institut | Moorfields Eye Hospital |
Ville | London, United Kingdom |