TY - CHAP M1 - Book, Section TI - Genetic Eye Diseases A1 - Schelvergem, Kristof Van A1 - Butera, Tina L. A1 - Bateman, J. Bronwyn A1 - Levin, Alex V. A2 - Kline, Mark W. PY - 2018 T2 - Rudolph's Pediatrics, 23e AB - The development of techniques for identifying the genetic bases for disease has dramatically increased our understanding of eye diseases. The prevalence of genetic disease as the basis for significant visual loss is uncertain and a function of the population, healthcare resources, and cultural values. Genetic factors may influence development of the eye but also may cause a progressive deterioration over time. Although a specific mutation of a gene may result in a consistent phenotype, variation is common and may reflect the effect of other genes or environmental factors. Complex diseases, such as myopia and strabismus, probably have both genetic and environmental bases. Ascertainment bias, inconsistent data collection, or cultural factors influence population-based studies. Autosomal recessive disorders are more common in cultures with high rates of consanguinity (Middle East or Southeast Asia). Other disorders, such as the group of diseases called retinitis pigmentosa, have a more uniform geographic prevalence rate of 20 to 40 per 100,000 worldwide. With the completion of the Human Genome Project (http://www.ornl.gov/sci/techresources/Human_Genome/home.shtml) and the rapid development of improved analytical tools, a new understanding of the genetic bases of eye diseases offers the hope of understanding causes and identifying cures. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1182927283 ER -