Clinical, optical coherence tomography and fundus autofluorescence findings in atrophic maculopathy associated with pseudoxanthoma elasticum

Abstract

Purpose : To report characteristic clinical, optical coherence tomography (OCT) and fundus autofluorescence findings in pseudoxanthoma elasticum (PXE) atrophic maculopathy.

Methods : Methods: Retrospective analysis of patients with maculopathy associated with PXE over the period of one year. All patients underwent routine ophthalmic examination, color fundus photography, autofluorescence imaging and spectral-domain OCT. Fundus fluorescein angiography (FFA) and electrodiagnostic testing were assessed where available. Follow up images were obtained in some cases. Mutations in ABCC6 were studied with genome-wide Single Nucleotide Polymorphism (SNP) microarray, conventional PCR and MLPA.

Results : Six patients were included in the study. ( M:F, 1:5, age range 48-61). 5 of 6 patients had no choroidal neovascularisation (CNV) and one patient had prior anti-VEGF treatment. Visual acuity ranged from 6/6 to 1/60. Clinically, varying degrees of retinal pigment epithelium (RPE) mottling and macula atrophy were noted. Five of six patients had angioid streaks. Autofluorescence scans demonstrated punctate hyperautofluorescent lesions surrounding areas of macula atrophy in all cases. Spectral-domain OCT imaging showed breaks in the high reflectance line corresponding to Bruch’s membrane in 5 patients. Significant progression of pathological findings were seen in some cases.

Conclusions : Atrophic maculopathy in PXE has a characteristic clinical and imaging phenotype, can occur without or with CNV and may be a cause of progressive significant visual impairment. SD-OCT and autofluorescence imaging demonstrate characteristic findings.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.