AUTOIMMUNE RETINOPATHY IN A PATIENT WITH STIFF-PERSON SYNDROME: A CASE REPORT

Area of Science:

• Neuro-ophthalmology
• Autoimmune Disorders
• Retinal Degeneration

Background:

• Autoimmune retinopathy is a rare condition causing progressive vision loss.
• Stiff-person syndrome is a neurological disorder characterized by muscle rigidity and spasms.
• Anti-glutamic acid decarboxylase (GAD65) autoantibodies are implicated in several autoimmune neurological conditions.

Purpose of the Study:

• To describe a patient with co-occurring autoimmune retinopathy, stiff-person syndrome, and anti-GAD65 autoantibodies.
• To investigate the potential association between anti-GAD65 autoantibodies and autoimmune retinopathy.

Main Methods:

• Comprehensive ophthalmologic evaluation including clinical examination, multimodal retinal imaging (OCT, fundus autofluorescence), and electrophysiologic testing.
• Neurologic assessment with serum and cerebrospinal fluid analysis for autoantibodies.
• Detailed case presentation and follow-up.

Main Results:

• A 45-year-old patient presented with subacute vision loss and lower extremity weakness.
• Retinal imaging revealed diffuse outer retinal attenuation and foveal hyperautofluorescence.
• The patient was diagnosed with stiff-person syndrome and autoimmune retinopathy, with elevated serum and CSF anti-GAD65 autoantibodies.

Conclusions:

• The case suggests a potential link between anti-GAD65 autoantibodies and the development of autoimmune retinopathy.
• This association warrants further investigation in larger cohorts.
• Understanding this link may improve diagnostic and therapeutic strategies for patients with overlapping autoimmune conditions.