EXTENSIVE SUBRETINAL FIBROSIS ASSOCIATED WITH PSEUDOXANTHOMA ELASTICUM

Area of Science:

• Ophthalmology
• Genetics
• Inflammatory Diseases

Background:

• Pseudoxanthoma elasticum (PXE) is a rare genetic disorder affecting elastic tissues.
• PXE typically manifests with characteristic skin and eye findings.
• Ocular involvement in PXE can lead to significant visual impairment.

Purpose of the Study:

• To report a unique case of PXE with an inflammatory phenotype.
• To describe atypical and rapidly progressive subretinal fibrosis in a PXE patient.
• To discuss the management and outcomes of this unusual presentation.

Main Methods:

• Observational case report.
• Detailed clinical examination and imaging of the affected eye.
• Treatment with local and systemic corticosteroids and immunomodulatory agents.

Main Results:

• The patient presented with rapid subretinal fibrosis, intraocular inflammation, and retinal abnormalities.
• Treatment resulted in functional and structural improvement.
• Partial outer retinal reconstitution and decreased intraretinal fluid were observed.

Conclusions:

• This case expands the understanding of inflammatory phenotypes in PXE.
• Atypical subretinal fibrosis can be a feature of PXE.
• Corticosteroids and immunomodulatory therapy may be beneficial for managing inflammatory PXE.