Journal article
Caring for Hereditary Childhood Retinal Blindness
Asia-Pacific journal of ophthalmology (Philadelphia, Pa.), Vol.7(3), pp.183-191
05/2018
DOI: 10.22608/APO.201851
PMID: 29536675
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.
Details
- Title: Subtitle
- Caring for Hereditary Childhood Retinal Blindness
- Creators
- Ruben Jauregui - Weill Cornell Medical College, New York, NYGalaxy Y Cho - Frank H. Netter MD School of Medicine, Quinnipiac University, North Haven, CTVitor K L Takahashi - Department of Ophthalmology, Federal University of São Paulo, São Paulo, BrazilJulia T Takiuti - Division of Ophthalmology, University of São Paulo Medical School, São Paulo, BrazilAlexander G Bassuk - Department of Pediatrics, University of Iowa, Iowa City, IAVinit B Mahajan - Palo Alto Veterans Administration, Palo Alto, CAStephen H Tsang - Department of Pathology & Cell Biology, Stem Cell Initiative (CSCI), Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, NY
- Resource Type
- Journal article
- Publication Details
- Asia-Pacific journal of ophthalmology (Philadelphia, Pa.), Vol.7(3), pp.183-191
- DOI
- 10.22608/APO.201851
- PMID
- 29536675
- NLM abbreviation
- Asia Pac J Ophthalmol (Phila)
- ISSN
- 2162-0989
- eISSN
- 2162-0989
- Publisher
- China
- Language
- English
- Date published
- 05/2018
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984070538302771
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