Angioid Streaks and Choroidal Neovascular Membrane Secondary to Pseudoxanthoma Elasticum: A Case Report

TL;DR

A 50-year-old woman with angioid streaks and choroidal neovascular membrane was diagnosed with pseudoxanthoma elasticum, highlighting the need for multidisciplinary care.

Contribution

This case emphasizes the importance of early multidisciplinary intervention in pseudoxanthoma elasticum to prevent severe vision and systemic complications.

Findings

Angioid streaks and choroidal neovascular membrane were identified as ocular manifestations of pseudoxanthoma elasticum.

Multidisciplinary evaluation confirmed systemic signs of pseudoxanthoma elasticum through skin biopsy and clinical assessment.

Abstract

Angioid streaks (AS) are recognized as irregular, linear dehiscences of Bruch’s membrane, often associated with systemic diseases. We present the case of a 50-year-old woman initially diagnosed with AS during a routine optometric examination. Subsequent ophthalmological evaluation revealed bilateral AS with calcified drusen. Two years post-diagnosis, she developed blurred vision in her right eye due to the choroidal neovascular membrane adjacent to the macular AS. Further evaluation uncovered clinical signs consistent with pseudoxanthoma elasticum (PXE), including characteristic skin lesions. A multidisciplinary approach involving ophthalmology, dermatology, and cardiovascular specialists was initiated. Histopathological confirmation of PXE was obtained through a skin biopsy. PXE, an autosomal recessive disorder characterized by elastin calcification, presents systemic manifestations necessitating comprehensive evaluation and monitoring. This case demonstrates the importance of recognizing ocular complications in PXE and advocates for early multidisciplinary intervention to mitigate potential vision and life-threatening outcomes.

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