Article
Paracentral Acute Middle Maculopathy as a Major Clinical Manifestation of Adenosine Deaminase-2 Deficiency
2024-11-19
Abstract excerpt
<title>Abstract</title> <p><bold>BACKGROUND</bold> Adenosine deaminase-2 (ADA2) deficiency is a rare autosomal recessive autoinflammatory syndrome, typically presenting in young patients with a broad spectrum of phenotypes. These phenotypes may include primary immune deficiencies, livedo reticularis, and various hematological abnormalities. Visual loss associated with ADA2 deficiency is uncommon and, when it does...
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Identifiers and source
- Literature Corpus work
- a1f5ba63-c104-5fe9-8e05-5884afbaf834
- DOI
- 10.21203/rs.3.rs-5263201/v1
