Visual impairment in pseudoxanthoma elasticum: a survey of 53 patients from Turkey

To estimate the age at onset and severity of ophthalmologic aspects of pseudoxanthoma elasticum (PXE).

Medical records of 53 patients with PXE were evaluated. Findings at initial presentation, including refraction, best-corrected visual acuity (BCVA), and biomicroscopic and funduscopic examination were explored.

The mean age of the patients at time of presentation was 43 years. The male-to-female ratio was 2.8:1. The mean age at occurrence of the first visual symptoms and retinal complications associated with choroidal neovascularization (CNV) was 42 years. Active subfoveal CNV or choroidal scar formation at the time of presentation was observed in 80 eyes (75%) of 49 patients (mean age 43 years). Twenty-seven patients (51%) (mean age 43 years) had BCVA ≤20/200 in at least one eye. Ten patients (19%) had BCVA ≤20/200 in both eyes (mean age 48 years). Twenty patients (41%) presenting with subfoveal chorioretinal scar or an active subfoveal CNV reported a spontaneous decline in visual acuity before age 40.

Subfoveal CNV was a frequent finding responsible for the poor visual acuity of patients with PXE. Its formation was not strictly age-dependent, and in patients under 40 years of age could be underestimated. More trials are needed to determine clinical recommendations for follow-up of young patients with PXE.