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  • Use of Adaptive Optics for Pseudoxanthoma Elasticum

    By Lynda Seminara
    Selected By: Richard K. Parrish II, MD

    Journal Highlights

    American Journal of Ophthalmology, April 2021

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    Typical ocular findings of pseudoxan­thoma elasticum (PXE), a rare pro­gressive disorder, are peau d’orange, angioid streaks, and optic nerve drusen. Although conventional imaging has been helpful for detecting retinopathy associated with PXE, further work is needed to characterize the condition’s ocular abnormalities. To this end, Murro et al. applied a multimodal approach, including flood-illumination adaptive optics (AO), to specifically explore retinal features of patients with PXE. They observed three distinct types of angioid streaks, as well as tiny crys­talline bodies that were not detected by standard retinal imaging techniques.

    For this retrospective series, the authors reviewed records on 21 eyes of 18 patients (mean age, 37 years; range, 14-66) with PXE. Demographic and clinical data were gathered, along with results of imaging tests (color, infrared, and autofluorescence fundus imaging; optical coherence tomograph­ic scans; and AO exams).

    With AO, the authors detected photoreceptors within angioid streaks and identified three types of streaks: “crack” (type 1), “band” (type 2), and “hypopigmented” (type 3). Type 1 was found in eight eyes and resembled a well-defined jagged hyporeflective fissure. Type 2 was seen in 12 eyes; these bands looked similar to the cracks (type 1) but were larger. Type 3 defects, noted in three eyes, were characterized by small, short, ill-defined streaks and diffuse hyper-reflectivity. Dark spots were present on these streaks and were most evident at the boundaries. Comet lesions appeared hyper-reflective and round on AO imaging. In all eyes, the cone mosaic was less pronounced with­in streaks than in nearby areas.

    This work demonstrates that some PXE-related retinal anomalies may be undetectable with standard imaging. The authors recognize that their series is small; however, the rarity of PXE poses challenges to developing large studies.

    The original article can be found here.