The Asia-Pacific Journal of Ophthalmology

Asia-Pacific Journal of Ophthalmology:

Issue 3, May/June 2018 Review Article

Caring for Hereditary Childhood Retinal Blindness

Jauregui, Ruben; Cho, Galaxy Y.; Takahashi, Vitor K.L.; Takiuti, Julia T.; Bassuk, Alexander G.; Mahajan, Vinit B.; Tsang, Stephen H.



Author Information


From the *Department of Ophthalmology, Columbia University, New York, NY; †Jonas Children’s Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, Columbia University Medical Center, New York, NY; ‡Weill Cornell Medical College, NY; §Frank H. Netter MD School of Medicine, Quinnipiac University, North Haven, CT; ¶Department of Ophthalmology, Federal University of São Paulo, São Paulo; ∥Division of Ophthalmology, University of São Paulo Medical School, São Paulo, Brazil; **Department of Pediatrics, University of Iowa, Iowa City, IA; ††Byers Eye Institute, Omics Laboratory, Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, CA; ‡‡Palo Alto Veterans Administration, Palo Alto, CA; §§Department of Pathology & Cell Biology, Stem Cell Initiative (CSCI), Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, NY.


Reprints: Stephen H. Tsang, MD, PhD, Harkness Eye Institute, Columbia University Medical Center, 635 West 165th Street, Box 212, New York, NY 10032. E-mail:
sht2@cumc.columbia.edu.



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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