This 55YO female has been followed for years with macular pattern dystrophy-type changes due to pseudoxanthoma elasticum (PXD). Vision is 20/25 OU.
Color imaging shows variable mild pigmentary changes. Optos fundus autofluorescence imaging shows variable hyperautofluorescent flecks with variable angiographic staining. Some staining angioid streaks are noted in her right eye.
Learning Points:
Retinal findings in PXE most commonly include angioid streaks and a subretinal orange skin (peaux d’orange) appearance, most pronounced in each temporal macula.
However, pattern dystrophy-like changes, as in our patient, can sometimes be the predominant phenotype in some PXE patients (Murro et al, Graefe’s 2020;258:1881-1892). As with typical pattern dystrophies, the findings are dynamic and best captured with multimodal imaging.
