Pseudoxanthoma elasticum: A case study of three family members

IF 3 3区医学 Q1 OPHTHALMOLOGY

Acta Ophthalmologica Pub Date : 2025-01-19 DOI:10.1111/aos.17401

Candela Congost Laguna, Romana García Gil, Anselmo Feliciano Sánchez, Blanca Casado Peláez, Sergio Inat Moreno

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引用次数: 0

Abstract

Aims/Purpose: To evaluate the evolution and various clinical presentations of pseudoxanthoma elasticum in three family members.

Methods: Continuous follow-up was conducted in the outpatient ophthalmology clinics at our hospital. Clinical characteristics, including the presence of exudation, neovascular membranes, angioid streaks, and posterior pole atrophy, were documented and analyzed through detailed ophthalmological examinations and imaging tests. Visual acuity was assessed, and autofluorescence imaging was performed. Additionally, optical coherence tomography (OCT) and OCT angiography (OCT-A) were utilized to obtain high-resolution images of the retina and its blood flow.

Results: One daughter presented with exudation accompanied by a neovascular membrane, which was treated with intravitreal anti-VEGF injections. The other daughter maintains good vision and shows angioid streaks in the fundus without macular involvement. The mother is in an advanced stage of the disease, with significant retinoschisis and posterior pole atrophy.

Conclusions: This case study highlights the variability in the presentation and progression of pseudoxanthoma elasticum within the same family. Continuous and personalized follow- up is crucial for the appropriate management and early detection of complications in PXE patients.

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来源期刊

Acta Ophthalmologica 医学-眼科学

CiteScore

7.60

自引率

5.90%

发文量

433

审稿时长

6 months

期刊介绍： Acta Ophthalmologica is published on behalf of the Acta Ophthalmologica Scandinavica Foundation and is the official scientific publication of the following societies: The Danish Ophthalmological Society, The Finnish Ophthalmological Society, The Icelandic Ophthalmological Society, The Norwegian Ophthalmological Society and The Swedish Ophthalmological Society, and also the European Association for Vision and Eye Research (EVER). Acta Ophthalmologica publishes clinical and experimental original articles, reviews, editorials, educational photo essays (Diagnosis and Therapy in Ophthalmology), case reports and case series, letters to the editor and doctoral theses.