Bilateral Retinopathy and Optic Neuropathy Associated with Systemic Sclerosis

Area of Science:

• Ophthalmology
• Rheumatology
• Systemic Autoimmune Diseases

Background:

• Systemic sclerosis (SSc) is a rare chronic autoimmune disease characterized by fibrosis and vascular abnormalities.
• Ocular manifestations in SSc are uncommon, with retinopathy and optic neuropathy being particularly rare.

Observation:

• A 30-year-old female presented with bilateral optic disc edema, telangiectatic disc vessels, and macular drusen-like deposits (DLDs).
• Fundus fluorescein angiography showed retinal microaneurysms, leakage, and choroidal ischemia.
• Visual deficits included defective color vision, central scotomas, and centrocecal scotomas.

Findings:

• The patient was diagnosed with limited cutaneous SSc based on clinical features and a positive anticentromere antibody.
• This case represents a novel association between SSc and DLDs, which has not been previously reported in the literature.
• The patient was normotensive and undiagnosed for SSc prior to this presentation.

Implications:

• This report expands the spectrum of ocular complications associated with systemic sclerosis.
• It underscores the importance of comprehensive ophthalmological evaluation in patients with SSc, even in the absence of typical symptoms.
• Further research is warranted to elucidate the pathogenesis of DLDs in SSc and their clinical significance.