Ocular Features in Turner Syndrome

  • Erin P. HerlihyEmail author
  • Jolene C. Rudell


The prevalence of ocular disorders is higher in individuals with Turner syndrome than in the general population. Significant refractive error and strabismus are common and can lead to irreversible amblyopia if not diagnosed and treated in a timely manner. Ptosis and color vision deficiency are also commonly seen, with varying impact on daily activities and visual development. Nystagmus, congenital or childhood onset cataracts, and glaucoma are rare in any population, but are more frequent in the setting of Turner syndrome. Regular ophthalmologic examinations beginning in the first 12–18 months of life, or sooner if concerns are identified, are important to ensure timely identification and management of ocular disorders to maximize the visual potential of children with Turner syndrome.


Turner syndrome Strabismus Refractive error Amblyopia Ptosis Color vision deficiency Nystagmus 


  1. 1.
    Adhikary HP. Ocular manifestations of Turner’s syndrome. Trans Ophthalmol Soc U K. 1981;101(Pt 4):395–6.PubMedGoogle Scholar
  2. 2.
    Atchison DA, Pedersen CA, Dain SJ, Wood JM. Traffic signal color recognition is a problem for both protan and deutan color-vision deficients. Hum Factors. 2003;45(3):495–503.CrossRefGoogle Scholar
  3. 3.
    Birch J, Chisholm CM. Occupational colour vision requirements for police officers. Ophthalmic Physiol Opt. 2008;28(6):524–31.CrossRefGoogle Scholar
  4. 4.
    Casson EJ, Racette L. Vision standards for driving in Canada and the United States. A review for the Canadian Ophthalmological Society. Can J Ophthalmol. 2000;35(4):192–203.CrossRefGoogle Scholar
  5. 5.
    Charman WN. Vision and driving–a literature review and commentary. Ophthalmic Physiol Opt. 1997;17(5):371–91.PubMedGoogle Scholar
  6. 6.
    Chrousos GA, Ross JL, Chrousos G, Chu FC, Kenigsberg D, Cutler G Jr, Loriaux DL. Ocular findings in Turner syndrome. A prospective study. Ophthalmology. 1984;91(8):926–8.CrossRefGoogle Scholar
  7. 7.
    Cumberland P, Rahi JS, Peckham CS. Impact of congenital colour vision deficiency on education and unintentional injuries: findings from the 1958 British birth cohort. BMJ. 2004;329(7474):1074–5.CrossRefGoogle Scholar
  8. 8.
    Cumberland P, Rahi JS, Peckham CS. Impact of congenital colour vision defects on occupation. Arch Dis Child. 2005;90(9):906–8.CrossRefGoogle Scholar
  9. 9.
    Dain SJ, Wood JM, Atchison DA. Sunglasses, traffic signals, and color vision deficiencies. Optom Vis Sci. 2009;86(4):e296–305.CrossRefGoogle Scholar
  10. 10.
    Denniston AK, Butler L. Ophthalmic features of Turner’s syndrome. Eye (Lond). 2004;18(7):680–4.CrossRefGoogle Scholar
  11. 11.
    Eibschitz-Tsimhoni M, Friedman T, Naor J, Eibschitz N, Friedman Z. Early screening for amblyogenic risk factors lowers the prevalence and severity of amblyopia. J AAPOS. 2000;4(4):194–9.CrossRefGoogle Scholar
  12. 12.
    Force, U. S. P. S. T. Vision screening for children 1 to 5 years of age: US Preventive Services Task Force Recommendation statement. Pediatrics. 2011;127(2):340–6.CrossRefGoogle Scholar
  13. 13.
    Grassivaro Gallo P, Panza M, Viviani F, Lantieri PB. Congenital dyschromatopsia and school achievement. Percept Mot Skills. 1998;86(2):563–9.CrossRefGoogle Scholar
  14. 14.
    Holmes JM, Lazar EL, Melia BM, Astle WF, Dagi LR, Donahue SP, Frazier MG, Hertle RW, Repka MX, Quinn GE, Weise KK, G. Pediatric Eye Disease Investigator. Effect of age on response to amblyopia treatment in children. Arch Ophthalmol. 2011;129(11):1451–7.CrossRefGoogle Scholar
  15. 15.
    Kemper A, Harris R, Lieu TA, Homer CJ, Whitener BL. Screening for visual impairment in children younger than age 5 years: a systematic evidence review for the U.S. Preventive Services Task Force. Rockville: Agency for Healthcare Research and Quality (US); 2004.Google Scholar
  16. 16.
    Noma T, Kanai Y, Kanai-Azuma M, Ishii M, Fujisawa M, Kurohmaru M, Kawakami H, Wood SA, Hayashi Y. Stage- and sex-dependent expressions of Usp9x, an X-linked mouse ortholog of Drosophila Fat facets, during gonadal development and oogenesis in mice. Mech Dev. 2002;119(Suppl 1):S91–5.CrossRefGoogle Scholar
  17. 17.
    Owsley C, McGwin G Jr. Vision impairment and driving. Surv Ophthalmol. 1999;43(6):535–50.CrossRefGoogle Scholar
  18. 18.
    Owsley C, McGwin G Jr. Vision and driving. Vis Res. 2010;50(23):2348–61.CrossRefGoogle Scholar
  19. 19.
    Pediatric Eye Disease Investigator, G. A randomized trial of atropine vs. patching for treatment of moderate amblyopia in children. Arch Ophthalmol. 2002;120(3):268–78.CrossRefGoogle Scholar
  20. 20.
    Rodriguez-Carmona M, O’Neill-Biba M, Barbur JL. Assessing the severity of color vision loss with implications for aviation and other occupational environments. Aviat Space Environ Med. 2012;83(1):19–29.CrossRefGoogle Scholar
  21. 21.
    Siu AW, Yap MK. The performance of color deficient individuals on airfield color tasks. Aviat Space Environ Med. 2003;74(5):546–50.PubMedGoogle Scholar
  22. 22.
    Verriest G, Oskar N, Marion M, Andre U. New investigation concerning the relationship between congenital colour vision defects and road traffic security. Int Ophthalmol. 1980;2:87–99.CrossRefGoogle Scholar
  23. 23.
    Wikiera B, Mulak M, Koltowska-Haggstrom M, Noczynska A. The presence of eye defects in patients with Turner syndrome is irrespective of their karyotype. Clin Endocrinol. 2015;83(6):842–8.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  1. 1.Department of OphthalmologyUniversity of Washington School of MedicineSeattleUSA
  2. 2.Division of Pediatric OphthalmologySeattle Children’s HospitalSeattleUSA

Personalised recommendations