Pseudoxanthoma elasticum associated with vitelliform macular lesion

Area of Science:

• Ophthalmology
• Medical Genetics

Background:

• Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by progressive calcification of elastic fibers.
• Ocular manifestations of PXE typically include angioid streaks and peau d'orange fundus appearance.
• Mutations in the ABCC6 gene are the primary cause of PXE.

Observation:

• This report details an uncommon case of PXE.
• The patient presented with characteristic fundus lesions suggestive of PXE.
• Genetic testing confirmed a mutation in the ABCC6 gene.

Findings:

• A significant finding was the co-occurrence of typical PXE fundus lesions and a large subfoveal vitelliform lesion.
• The presence of the vitelliform lesion in the context of PXE and ABCC6 mutation is notably unusual.
• This association expands the known spectrum of ocular phenotypes in PXE.

Implications:

• This case highlights the phenotypic variability of PXE.
• It suggests that patients with ABCC6 gene mutations and PXE may develop a broader range of macular pathologies.
• Further research is warranted to understand the pathomechanisms underlying this association and its clinical significance.