Geographic chorioretinal atrophy in pseudoxanthoma elasticum

To describe a series of patients with geographic atrophy independent of choroidal neovascularization (CNV) in pseudoxanthoma elasticum and to report progression over time.

Retrospective observational case series.

Records of all Vanderbilt Eye Institute patients with pseudoxanthoma elasticum and at least 1 set of color fundus photographs were reviewed (41 eyes of 21 patients). Fluorescein angiography, fundus autofluorescence, and optical coherence tomography images were reviewed, when available. In patients with geographic atrophy and at least 1 year of follow-up, atrophy was measured using fundus photographs. Main outcome measures included incidence of geographic atrophy, progression over time, and macular features associated with development or progression of geographic atrophy.

Eight eyes (20%) of 5 patients had geographic atrophy independent of CNV. Progression was documented in 6 eyes of 4 patients followed for at least 1 year (mean 3.5 years). Mean initial and final area was 2.9 and 9.5 mm(2), respectively, and growth rate was 1.7 mm(2) per year. Of the 6 eyes, 3 had a final visual acuity of 20/20 and the other 3 ranged from 20/150 to 20/400. All 8 eyes had pattern dystrophy, and 5 had linear pigment deposits that appeared to predict development or growth of atrophy.

Isolated geographic atrophy independent of CNV can develop in pseudoxanthoma elasticum, causing significant vision loss. Linear pigmented pattern dystrophy appears to predate geographic atrophy. Progression is similar to age-related macular degeneration. Recognition of this feature is important, especially if therapies to slow or reverse geographic atrophy become available.