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Submacular choroiditis in common variable immunodeficiency associated with a pathogenic mutation in the tumor
Michelle Y Peng1,2, Judy J Chen1,2, Aisha Ahmed3
1West Coast Retina Medical Group, San Francisco, CA, USA.
Insights
Common variable immunodeficiency (CVID) can manifest as submacular choroiditis. Early diagnosis, supported by genetic testing, is crucial for patients with uveitis and recurrent infections.
Area of Science:
- Ophthalmology
- Immunology
- Genetics
Background:
- Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by hypogammaglobulinemia and recurrent infections.
- Ocular manifestations of CVID are rare but can include uveitis, retinal vasculitis, and choroiditis.
Observation:
- An 80-year-old male with a history of recurrent bacterial infections and myelodysplastic syndrome due to CVID presented with intraocular inflammation.
- Ophthalmic examination and multimodal imaging revealed submacular choroiditis, cystoid macular edema (CME), and retinal vasculitis.
Findings:
- Genetic testing identified a TNFRSF13B point mutation, a variant associated with CVID.
- The patient's presentation of submacular choroiditis was linked to his underlying CVID, despite the specific genetic variant not being previously associated with CVID-related uveitis.
Implications:
- This case highlights the importance of considering CVID in the differential diagnosis of uveitis, particularly in patients with a history of recurrent bacterial infections.
- Genetic testing can aid in the diagnosis of CVID and guide management strategies for associated ocular conditions.
Purpose:
To report on a case of submacular choroiditis in a patient with common variable immunodeficiency (CVID).
Observations:
An 80-year-old man was referred with a diagnosis of a central retinal vein occlusion with CME and later developed intraocular inflammation. History was notable for recurrent bacterial infections and myelodysplastic syndrome known to be due to CVID. Ophthalmic examination and multimodal imaging revealed mild intraocular inflammation, retinal vasculitis, submacular choroiditis, and CME. Genetic testing identified a point mutation in TNFRSF13B, a pathogenic variant in the tumor necrosis factor gene known to be associated with CVID, but not with CVID-associated uveitis.
Conclusions And Importance:
The diagnosis of CVID should be considered in patients with uveitis and a history of recurrent bacterial infections. Genetic testing can support the diagnosis.
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