To assess the age-specific proportion of visual impairment in patients with pseudoxanthoma elasticum (PXE) and to compare this with foveal abnormality and similar data of late age-related macular degeneration patients.
Cross-sectional data of 195 patients with PXE were reviewed, including best-corrected visual acuity and imaging. The World Health Organisation criteria were used to categorize bilateral visual impairment. These results were compared with similar data of 131 patients with late age-related macular degeneration from the Rotterdam study.
Overall, 50 PXE patients (26.0%) were visually impaired, including 21 (11%) with legal blindness. Visual functioning declined with increasing age. In patients older than 50 years, 37% was visually impaired and 15% legally blind. Foveal choroidal neovascularization was found in 84% of eyes with a best-corrected visual acuity lower than 20/70 (0.30) and macular atrophy in the fovea in 16%. In late age-related macular degeneration patients, 40% were visually impaired and 13% legally blind. Visual impairment started approximately 20 years later as compared with PXE patients.
Visual impairment and blindness are frequent in PXE, particularly in patients older than 50 years. Although choroidal neovascularization is associated with the majority of vision loss, macular atrophy is also common. The proportion of visual impairment in PXE is comparable with late age-related macular degeneration but manifests earlier in life.
The age-specific visual function in 195 patients with pseudoxanthoma elasticum was investigated. Visual impairment and blindness are frequent in pseudoxanthoma elasticum, especially in patients older than 50 years old. Although choroidal neovascularization causes the majority of visual loss, macular atrophy is also common.
*Department of Ophthalmology, University Medical Center Utrecht, the Netherlands;
Departments of †Ophthalmology, and
‡Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands; and
§Department of Ophthalmology, Radboud Medical Center, Nijmegen, the Netherlands.
Reprint requests: Sara Risseeuw, MD, MSc, Department of Ophthalmology, University Medical Center Utrecht, Utrecht University, PO Box 85500, E 03.136, 3508 GA Utrecht, the Netherlands; e-mail: S.Risseeuw@umcutrecht.nl
Supported by the Dr. F.P. Fischer Foundation, Amersfoort, the Netherlands (unrestricted funding). The Fischer Foundation had no role in designing or performing this research.
None of the authors has any conflicting interests to disclose.