Optometric screening in achondroplasia, diastrophic dysplasia, and spondyloepiphyseal dysplasia congenita.
Visual screening tests were done on 61 individuals with various types of genetic skeletal dysplasias to determine which, if any, refractive errors are associated with each type. In individuals with achondroplasia, refractive error distribution was approximately that expected from its distribution in the general population. However, there was a significantly higher than expected frequency of strabismus in achondroplasts. A tendency to myopia was noted in diastrophic dysplasia and in those individuals with spondyloepiphyseal dysplasia.
D000130:Achondroplasia / Q000150:complications*; D000328:Adult; D000368:Aged; D006801:Humans; D008403:Mass Screening; D008875:Middle Aged; D009083:Mucopolysaccharidoses / Q000150:complications*; D009216:Myopia / Q000209:etiology; D012030:Refractive Errors / Q000209:etiology; D013285:Strabismus / Q000209:etiology; D014786:Vision Disorders / Q000209:etiology*