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Caring for Hereditary Childhood Retinal Blindness.

TitleCaring for Hereditary Childhood Retinal Blindness.
Publication TypeJournal Article
Year of Publication2018
AuthorsJauregui, Ruben, Cho Galaxy Y., Takahashi Vitor K. L., Takiuti Julia T., Bassuk Alexander G., Mahajan Vinit B., and Tsang Stephen H.
JournalAsia Pac J Ophthalmol (Phila)
Date Published2018 Mar 14

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.

Alternate JournalAsia Pac J Ophthalmol (Phila)
PubMed ID29536675