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| Name | Class |
|---|---|
| Boston Children's Hospital | OTHER |
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Cerebral/Cortical Visual Impairment (CVI) is the leading cause of childhood visual impairment in the United States and other industrialized countries. CVI is a brain-based visual disorder in which visual acuity or visual fields are reduced despite a normal eye examination or greater-than-expected visual impairment relative to ocular pathology. CVI is increasingly recognized in children with neurological conditions, yet it often remains undiagnosed until later childhood, delaying opportunities for early intervention.
Population-based studies suggest that CVI is more common than previously understood. Recent estimates indicate that over 180,000 individuals in the United States aged 0-22 years may have diagnosed or likely CVI, with only a minority formally identified. Children with CVI frequently have co-occurring neurological conditions, including cerebral palsy, epilepsy, developmental delays, or genetic disorders. Infants born preterm or with conditions such as hypoxic-ischemic encephalopathy (HIE), perinatal stroke, or white matter injury are at particularly high risk. Prospective research also shows that a substantial proportion of infants born very preterm exhibit behavioral features of CVI later in childhood.
Despite improvements in neonatal neurocritical care, early detection of CVI remains challenging. Current clinical practice focuses on managing conditions such as HIE, perinatal stroke, periventricular leukomalacia, and other brain injuries, but there is limited research evaluating structured early identification pathways for CVI in infancy. Diagnostic tools such as brain MRI and Visual Evoked Potentials (VEP) have shown potential for identifying brain-based visual dysfunction, but their integration into early predictive models for CVI has not been fully explored.
This study addresses a critical gap in pediatric care by prospectively evaluating high-risk neonates using clinical, neuroimaging, neurophysiologic, and standardized developmental assessments through 24 months of age. Early identification of CVI may support timely referral for visual rehabilitation and developmental services, potentially improving long-term functional outcomes. Developing a predictive model for early CVI detection will contribute to improved clinical pathways, enhance early diagnosis, and reduce the long-term educational and social burden associated with undetected CVI. Ultimately, this research aims to improve outcomes and quality of life for infants at risk for brain-based visual impairment.
The study is a prospective observational study designed to follow preterm and term infants who are at high risk for Cerebral/ Cortical Visual Impairment (CVI). Preterm Infants born before 32 weeks gestational age with conditions such germinal matrix/intraventricular hemorrhage (IVH), white matter injury (WMI including periventricular leukomalacia (PVL), and late term and term infants with Hypoxic-Ischemic Encephalopathy (HIE) or prenatal Stroke will be enrolled during the neonatal intensive care unit (NICU) stay and monitored through a structured follow-up schedule. The study focuses on data collection using advanced diagnostic imaging and neurodevelopmental assessments without introducing randomization or experimental interventions.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Preterm/Term High-Risk Infants | Infants at high risk for Cerebral/Cortical Visual Impairment (CVI), including preterm infants with IVH or white matter injury, term or late preterm infants with hypoxic-ischemic encephalopathy (HIE), and infants with perinatal stroke. Participants are followed prospectively and undergo standardized clinical, neuroimaging, neurophysiologic, and developmental assessments through 24 months of age. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Prospective Clinical and Neurodevelopmental Data Collection | Other | Participants undergo standardized collection of clinical, neuroimaging, neurophysiologic, visual assessment and neurodevelopmental data as part of this prospective observational study. Data include information obtained from clinical care and scheduled follow-up assessments through 24 months of age. No interventions are assigned. |
| Measure | Description | Time Frame |
|---|---|---|
| Presence of Cerebral Visual Impairment (CVI) at 24 Months | Diagnosis of Cerebral/Cortical Visual Impairment (CVI) based on standardized clinical visual assessment performed. Outcome measure: Low, or high risk. | 24 months of age |
| Measure | Description | Time Frame |
|---|---|---|
| Visual Function assessment | Visual function evaluated using the age-appropriate CVI and parent questionnaire administered at scheduled follow-up intervals (6, 12, and 24 months per protocol), with primary reporting at 24 months.
Outcome measure: Low, or high risk. |
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Inclusion Criteria:
Parent(s) or legal guardian(s) willing and able to provide informed consent
Exclusion Criteria:
Neonates whose parent(s) or guardian(s) cannot commit to long-term follow-up
All genders are eligible to participate.
The study population includes preterm and term infants at high risk for cerebral visual impairment due to neurological injury diagnosed in the neonatal period. This includes:
Eligible infants are enrolled during their initial hospitalization and followed longitudinally into early childhood to assess visual development, neurodevelopmental outcomes, and early signs of cerebral visual impairment. Parent(s) or legal guardian(s) must be willing and able to provide informed consent.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Mohamed El-Dib, MD | Contact | +15712016409 | mel-dib@bwh.harvard.edu | |
| Mohamed El-Dib | Contact |
| Name | Affiliation | Role |
|---|---|---|
| Mohamed El-Dib, MD | Brigham and Women's Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Brigham and Women's Hospital, and Boston Children's Hospital | Recruiting | Boston | Massachusetts | 02115 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 32199940 | Background | Chang MY, Borchert MS. Advances in the evaluation and management of cortical/cerebral visual impairment in children. Surv Ophthalmol. 2020 Nov-Dec;65(6):708-724. doi: 10.1016/j.survophthal.2020.03.001. Epub 2020 Mar 19. | |
| 36258009 | Background | Pilling RF, Allen L, Bowman R, Ravenscroft J, Saunders KJ, Williams C. Clinical assessment, investigation, diagnosis and initial management of cerebral visual impairment: a consensus practice guide. Eye (Lond). 2023 Jul;37(10):1958-1965. doi: 10.1038/s41433-022-02261-6. Epub 2022 Oct 18. |
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No plan to share individual participant data
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|
| 24 months |
| Visual Evoked Potential (VEP) Response | Assessment of cortical visual pathway response using VEP performed at 6 and 24 months per protocol, with primary reporting at 24 months. Outcome measure: low or high risk group. | 24 months |
| Neurodevelopmental Composite Score | Standardized neurodevelopmental testing obtained as part of 12-, 18-, and 24-month clinical follow-up (e.g., Bayley-IV). Primary reporting at 24 months Outcome measure:
| 24 months |
| 29146757 | Background | Sakki HEA, Dale NJ, Sargent J, Perez-Roche T, Bowman R. Is there consensus in defining childhood cerebral visual impairment? A systematic review of terminology and definitions. Br J Ophthalmol. 2018 Apr;102(4):424-432. doi: 10.1136/bjophthalmol-2017-310694. Epub 2017 Nov 16. |
| ID | Term |
|---|---|
| D014786 | Vision Disorders |
| D001930 | Brain Injuries |
| D007969 | Leukomalacia, Periventricular |
| D020925 | Hypoxia-Ischemia, Brain |
| ID | Term |
|---|---|
| D012678 | Sensation Disorders |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D005128 | Eye Diseases |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D006259 | Craniocerebral Trauma |
| D020196 | Trauma, Nervous System |
| D014947 | Wounds and Injuries |
| D002561 | Cerebrovascular Disorders |
| D004678 | Encephalomalacia |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D007235 | Infant, Premature, Diseases |
| D007232 | Infant, Newborn, Diseases |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D002545 | Brain Ischemia |
| D002534 | Hypoxia, Brain |
| D000860 | Hypoxia |
| D012818 | Signs and Symptoms, Respiratory |
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