Table of Contents
Main Features
Eye Findings
Other Findings
Etiology
Resources
Turner Syndrome and Mosaic Turner Syndrome
Main Features
Usually phenotypically female
Short stature
Webbed neck
“Shield chest” with wide-spaced nipples
cubitus valgus
hearing loss
Cardiac malformations
Bicuspid Aortic valve
Coarctation of the aorta
Partial anomalous pulmonary venus return
Aortic dilation and dissection
Eye Findings
Refractive error
Hyperopia more common
Strabismus
Esotropia more than exotropia
Amblyopia
Rare problems (few case reports)
Early onset cataracts
Keratoconus
Limbal stem cell deficency
Anterior lenticonus
Retinal detachment
Mosaic Turner reported ocular problems
Anterior segment dysgenesis
microphthalmia
Sclerocornea
Congenital Glaucoma
Reiger Malformation
Other Findings
1:2000
Etiology
Monosomy X
Resources
Turner Syndrome: Ocular Manifestations and Considerations for Corneal Refractive Surgery. Moshifar Majid et al. J Clin Med. 2022;11:6853
Anterior Segment Dysgenesis in Mosaic Turner Syndrome. Lloyd IC, Haigh PM, Clayton-Smith J, et al. The British Journal of Ophthalmology. 1997;81(8):639-43
Microphthalmia With Linear Skin Defects Syndrome in a Mosaic Female Infant With Monosomy for the Xp22 Region: Molecular Analysis of the Xp22 Breakpoint and the X-Inactivation Pattern. Ogata T, Wakui K, Muroya K, et al. Human Genetics. 1998;103(1):51-6
syndrome