Unusual retinopathy in a child with severe combined immune deficiency

Area of Science:

• Immunology
• Ophthalmology
• Genetics

Background:

• Severe combined immune deficiency (SCID) is a group of rare genetic disorders characterized by profound defects in T-cell and B-cell immunity.
• Retinopathy, a leading cause of vision loss, can have diverse etiologies including genetic, infectious, and inflammatory factors.

Observation:

• A case report details an infant diagnosed with Adenosine Deaminase deficiency SCID (ADA-SCID).
• The infant presented with severe retinopathy and low vision in both eyes upon initial examination.
• An enterovirus infection was identified during the workup, suggesting a potential infectious trigger for the retinopathy.

Findings:

• The clinical presentation of severe retinopathy and low vision in an infant with ADA-SCID was observed.
• An enterovirus infection was detected, correlating temporally with the onset of severe retinopathy.
• Whole exome sequencing excluded known genetic causes of congenital retinal diseases, such as retinitis pigmentosa and Leber congenital amaurosis.

Implications:

• This case highlights the potential for infectious agents, specifically enteroviruses, to cause severe retinopathy in infants with primary immunodeficiencies like ADA-SCID.
• Early identification of infectious triggers is crucial for managing ocular complications in immunocompromised infants.
• The findings underscore the importance of a comprehensive diagnostic approach, integrating immunological, ophthalmological, infectious, and genetic evaluations.