Caring for Hereditary Childhood Retinal Blindness
| Autor: | Vinit B. Mahajan, Júlia T. Takiuti, Stephen H. Tsang, Vitor K. L. Takahashi, Ruben Jauregui, Alexander G. Bassuk, Galaxy Y. Cho |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty Visual impairment Diagnostic Techniques Ophthalmological Diagnostic tools Blindness 03 medical and health sciences 0302 clinical medicine Retinal Diseases parasitic diseases Medicine Humans Medical history Genetic Testing Child Genetic testing medicine.diagnostic_test business.industry Disease Management General Medicine medicine.disease Ophthalmology Pediatric patient 030104 developmental biology 030221 ophthalmology & optometry Pediatric ophthalmology medicine.symptom business Pediatric population |
| Zdroj: | Asia-Pacific journal of ophthalmology (Philadelphia, Pa.). 7(3) |
| ISSN: | 2162-0989 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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