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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
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CRB1-associated retinal dystrophy presenting as self-resolving opsoclonus and posterior uveitis
Angela S Li1,2, Malini Veerappan Pasricha2, Kapil Mishra2
1Stanford University School of Medicine, Stanford University, Palo Alto, CA, USA.
American Journal of Ophthalmology Case Reports
|March 4, 2022
Summary
Opsoclonus in infants may signal CRB1-associated retinal dystrophy. Early eye exams and treatments like TNF-α inhibitors can help manage this rare inflammatory condition.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- CRB1-associated retinal dystrophy is a rare genetic disorder.
- Inflammatory manifestations are not typically associated with CRB1 mutations.
Observation:
- A 2-year-old female presented with opsoclonus at 4 months, which resolved spontaneously.
- Recurrent saccadic intrusions and severe retinal inflammation appeared 21 months later.
- Genetic analysis revealed two CRB1 variants: a missense mutation and a novel deletion in exon 12.
Findings:
- CRB1-associated retinal dystrophy can present initially with opsoclonus.
- Systemic treatment with infliximab (a TNF-α inhibitor) and steroids improved retinal vascular leakage.
- A novel, likely highly penetrant deletion in CRB1 was identified.
Implications:
- Infants with opsoclonus require comprehensive ophthalmic evaluation.
- CRB1-associated retinal dystrophy has an inflammatory component treatable with immunosuppressants.
- Early diagnosis and intervention are crucial for managing this condition.
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