HLA-A29 negative Birdshot-like chorioretinopathy associated with common variable immunodeficiency

Area of Science:

• Ophthalmology
• Immunology
• Genetics

Background:

• Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by low immunoglobulin levels.
• Birdshot-like chorioretinopathy (BLCR) is a rare posterior uveitis, typically associated with HLA-A29 positivity.
• This case presents a unique association between HLA-A29 negative BLCR and CVID.

Observation:

• A 22-year-old male with CVID presented with decreased visual acuity and cystoid macular edema.
• Funduscopy showed optic disk edema and chorioretinal infiltrates.
• Initial treatment with intravitreal triamcinolone resolved macular edema, but optic nerve edema persisted.

Findings:

• This is the third reported case of HLA-A29 negative BLCR associated with CVID.
• It represents the first long-term follow-up of this rare condition.
• The patient achieved 20/20 visual acuity at 24 months follow-up.

Implications:

• Long-term follow-up is crucial for understanding the natural history and potential complications of rare diseases like HLA-A29 negative BLCR in CVID.
• Aggressive, multidisciplinary treatment involving ophthalmologists and immunologists is necessary to manage ocular complications effectively.
• This case expands the known spectrum of BLCR associations and highlights the importance of considering immunodeficiency in atypical presentations.