The Expanding Phenotypic Spectrum of COL4A1- and COL4A2-Related Disorders: A Systematic Review.
Pediatr NeurolJul 27, 2026 (epub)
Eleonora Bonaventura, Daria Marelli, Umberto Carugo et al.
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In 30 seconds
This systematic review analyzed 99 articles to characterize the phenotypic spectrum of COL4A1- and COL4A2-related disorders in 367 patients. Neurologic symptoms were prevalent, observed in 78.5% of patients, with acute deficits in 16.9%. The findings highlight the broad range of manifestations, particularly neurological and ocular issues.
Key findings
- Neurologic symptoms were present in 78.5% of patients with COL4A1- and COL4A2-related disorders.
- Acute neurologic deficits occurred in 16.9% of cases, with some experiencing recurrent events.
- Pathological brain MRI findings were noted in most cases, with leukoencephalopathy and porencephaly being common.
- Ocular involvement was reported in 71.3% of patients.
Why it matters
Understanding the diverse manifestations of COL4A1- and COL4A2-related disorders is crucial for accurate diagnosis and management. Clinicians should be aware of the potential for significant neurological and ocular involvement, even in patients with mild symptoms.