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Published on: June 9, 2018
Caring for Hereditary Childhood Retinal Blindness
Ruben Jauregui1,2,3, Galaxy Y Cho1,2,4, Vitor K L Takahashi1,2,5
1Department of Ophthalmology, Columbia University, New York, NY.
Insights
Inherited retinal diseases (IRDs) cause incurable blindness in children. This review highlights key pediatric IRDs, emphasizing pedigree, electroretinography, and genetic testing for accurate diagnosis.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Inherited retinal diseases (IRDs) are a significant cause of incurable blindness globally.
- In children, IRDs contribute to millions of cases of visual impairment worldwide.
- Diagnosing pediatric IRDs is challenging due to difficulties in performing standard diagnostic tests on young patients.
Purpose of the Study:
- To review significant IRDs with onset in childhood (before age 18).
- To describe the pathogenesis, clinical presentation, and potential treatments for pediatric IRDs.
- To advocate for key diagnostic tools in the pediatric population.
Main Methods:
- Literature review focusing on IRDs in the pediatric population.
- Analysis of disease pathogenesis, clinical manifestations, and therapeutic strategies.
- Evaluation of diagnostic approaches for pediatric IRDs.
Main Results:
- Identified and described major IRDs affecting children.
- Detailed the complexities of diagnosing IRDs in pediatric patients.
- Highlighted the importance of specific diagnostic modalities.
Conclusions:
- Pediatric IRDs represent a critical area of visual impairment requiring specialized diagnostic approaches.
- A combination of pedigree analysis, electroretinography, and genetic testing is crucial for accurate IRD diagnosis in children.
- Early and accurate diagnosis is essential for managing pediatric IRDs and exploring potential treatments.
Abstract:
Inherited retinal diseases (IRDs) are a major cause of incurable familial blindness in the Western world. In the pediatric population, IRDs are a major contributor to the 19 million children worldwide with visual impairment. Unfortunately, the road to the correct diagnosis is often complicated in the pediatric population, as typical diagnostic tools such as fundus examination, electrodiagnostic studies, and other imaging modalities may be difficult to perform in the pediatric patient. In this review, we describe the most significant IRDs with onset during the pediatric years (ie, before the age of 18). We describe the pathogenesis, clinical presentation, and potential treatment of these diseases. In addition, we advocate the use of a pedigree (family medical history), electroretinography, and genetic testing as the 3 most crucial tools for the correct diagnosis of IRDs in the pediatric population.
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