Chromosome analyses have revealed consistent abnormalities in several congenital disorders. Two of these, mongolism (21 trisomy)1 and 13-15 trisomy2 are of established ophthalmic importance. This communication reviews the opthalmic facets of a third chromosomal aberration, Turner's syndrome.
Approximately one in every 5,000 phenotypic females possesses one X chromosome instead of two and a total of 45 chromosomes instead of 463 (Figure). The Barr body of somatic cells, which is dependent upon the presence of at least two X chromosomes, is absent in the cells of XO individuals. Generally, such persons present the clinical picture described by Turner in 1938.4 Ovarian dysgenesis, primary amenorrhea, undeveloped breasts, infantile genitalia, scanty pubic hair, short stature, webbed neck, shield chest, and cubitus valgus dominate the picture. Coarctation of the aorta, multiple pigmented nevi, recurrent aural infections, and congenital lymphedema occur often. Recently, diabetes and myxedema have been frequently
LESSELL S, FORBES AP. Eye Signs in Turner's Syndrome. Arch Ophthalmol. 1966;76(2):211–213. doi:10.1001/archopht.1966.03850010213011
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.