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Abstract #76696 Published in IGR 19-3
Caring for Hereditary Childhood Retinal Blindness
Jauregui R; Cho GY; Takahashi VKL; Takiuti JT; Bassuk AG; Mahajan VB; Tsang SHAsia-Pacific journal of ophthalmology (Philadelphia, Pa.) 2018; 7: 183-191
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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Classification:
9.1.2 Juvenile glaucoma (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
1.5 Glaucomas as cause of blindness (Part of: 1 General aspects)
