Autoantibodies Against Bestrophin in Non-Paraneoplastic Acute Exudative Polymorphous Vitelliform Maculopathy

Area of Science:

• Ophthalmology
• Oncology
• Immunology

Background:

• Acute exudative polymorphous vitelliform maculopathy (AEPVM) is recognized as a paraneoplastic syndrome.
• Initial AEPVM cases involved seemingly healthy individuals, raising questions about underlying causes like occult cancers or genetic mutations.
• The distinction between paraneoplastic and non-paraneoplastic AEPVM requires further investigation.

Purpose of the Study:

• To report and characterize a distinct subset of non-paraneoplastic AEPVM.
• To investigate cases of AEPVM in individuals without identified mutations or paraneoplastic associations.
• To present multimodal ocular imaging findings for this specific AEPVM presentation.

Main Methods:

• Case report of two patients with AEPVM.
• Genetic mutation analysis.
• Autoantibody testing.
• Multimodal ocular imaging (e.g., OCT, fundus photography, autofluorescence).

Main Results:

• Two cases of AEPVM were identified in individuals who were mutation-negative.
• These patients were positive for specific autoantibodies.
• Ocular imaging revealed characteristic features of AEPVM in both cases, distinct from paraneoplastic forms.
• No evidence of underlying malignancy was found.

Conclusions:

• A subset of non-paraneoplastic AEPVM exists, characterized by the absence of mutations and the presence of autoantibodies.
• This subset appears distinct from cancer-associated AEPVM.
• Multimodal imaging is crucial for diagnosing and understanding this AEPVM variant.