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Managing the apparently blind child presenting in the first year of life: A review
Kate E Leahy1,2, Edward Lo-Cao1,2, Robyn V Jamieson1,3,4
1Save Sight Institute, Discipline of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, The University of Sydney and Sydney Eye Hospital, Sydney, New South Wales, Australia.
Insights
This review outlines a structured approach for diagnosing and managing infants with severe vision impairment or blindness. Early, systematic evaluation and multidisciplinary collaboration are crucial for accurate diagnosis and optimal care.
Area of Science:
- Ophthalmology
- Pediatrics
- Genetics
Background:
- Childhood blindness presents a substantial health burden.
- Effective management requires a structured approach, especially in the first year of life.
Purpose of the Study:
- To provide a framework for managing infants with apparent blindness.
- To highlight diagnostic modalities and the role of genetics.
Main Methods:
- Comprehensive history and physical examination.
- Review of investigation modalities.
- Emphasis on genetic testing and multidisciplinary collaboration.
Main Results:
- A systematic approach is key for accurate diagnosis and timely management.
- Diagnoses may evolve with ongoing follow-up and investigations.
- Multidisciplinary collaboration improves care for affected infants.
Conclusions:
- A structured, systematic, and multidisciplinary approach is essential for managing blind infants.
- Early and accurate diagnosis, alongside collaborative care, optimizes outcomes for children with severe vision impairment.
Abstract:
Severe vision impairment and blindness in childhood have a significant health burden on the child, family and society. This review article seeks to provide a structured framework for managing the apparently blind child presenting in the first year of life, starting from a comprehensive history and examination. Different investigation modalities and the increasingly important role of genetics will also be described, in addition to common causes of severe vision impairment. Crucially, a systematic approach to the blind infant is key to correct diagnoses and timely management. Incorrect diagnoses can be costly to all involved, however it is important to note that diagnoses can change with ongoing follow-up and investigations. Furthermore, the modern age of ophthalmology requires a multi-disciplinary approach and close collaboration with specialists including paediatricians, neurologists and geneticists, in addition to rehabilitation and low vision services, to ensure the best care for these vulnerable infants.
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