J Korean Ophthalmol Soc.  2017 Aug;58(8):1008-1011. 10.3341/jkos.2017.58.8.1008.

Williams Syndrome with Ocular Manifestations

• Lee SK
• Hong H
• Lyu IJ

• KMID: 2388193
• DOI: http://doi.org/10.3341/jkos.2017.58.8.1008

Abstract

PURPOSE
To report two cases of Williams syndrome with ocular manifestations
CASE SUMMARY
A 5-year-old boy who was diagnosed with Williams syndrome visited our hospital for ophthalmic examination. Best corrected visual acuity (BCVA) in both eyes was 0.6. He had myopic astigmatism and 8 prism diopters of esotropia. Oval-shaped pupil with a stellate pattern of the iris and increased retinal vascular tortuosity were seen in both eyes. Another case of an 8-year-old boy with Williams syndrome also had myopia in both eyes. BCVA was 0.7 in the right eye and 0.4 in the left eye. A stellate pattern of the iris and increased retinal vascular tortuosity were also seen in both eyes.
CONCLUSIONS
Williams syndrome, deletion of 7q11.23, has ocular anomalies including a stellate pattern of the iris, refractive errors, amblyopia, and strabismus. Therefore, careful ophthalmic examination should be considered when children are diagnosed with Williams syndrome.

Keyword

Ocular manifestation; Retinal vascular tortuosity; Stellate pattern; Williams syndrome

MeSH Terms

Amblyopia
Astigmatism
Child
Child, Preschool
Esotropia
Humans
Iris
Male
Myopia
Pupil
Refractive Errors
Retinaldehyde
Strabismus
Visual Acuity
Williams Syndrome*
Retinaldehyde

Figure

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  Figure 1 Ocular manifestations in Case 1. (A) A stellate pattern of the iris and oval shape pupil were seen in both eyes. (B) Retinal vascular tortuosity was noted in both eyes.

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  Figure 2 Ocular manifestations in Case 2. (A) Anterior segment photographs showing a stellate pattern of the iris in both eyes. A stellate pattern of the iris is characterized by raised trabeculae at anterior to the usual stroma of the iris and these tabeculae seem to be more radial than normal iris. This pattern also has been described as ‘lacy or radial pattern’. (B) Retinal vascular tortuosity was also seen in fundus photographs.

Reference

1. Burn J. Williams syndrome. J Med Genet. 1986; 23:389–395.

2. Stromme P, Bjørnstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J Child Neurol. 2002; 17:269–271.

3. Bayés M, Magano LF, Rivera N, et al. Mutational mechanisms of Williams-Beuren syndrome deletions. Am J Hum Genet. 2003; 73:131–151.

4. Merla G, Ucla C, Guipponi M, Reymond A. Identification of additional transcripts in the Williams-Beuren syndrome critical region. Hum Genet. 2002; 110:429–438.

5. Morris CA, Mervis CB. Williams syndrome and related disorders. Annu Rev Genomics Hum Genet. 2000; 1:461–484.

6. Kececioglu D, Kotthoff S, Vogt J. Williams-Beuren syndrome: a 30-year follow-up of natural and postoperative course. Eur Heart J. 1993; 14:1458–1464.

7. Eronen M, Peippo M, Hiippala A, et al. Cardiovascular manifestations in 75 patients with Williams syndrome. J Med Genet. 2002; 39:554–558.

8. Ferrero GB, Biamino E, Sorasio L, et al. Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients. Eur J Med Genet. 2007; 50:327–337.

9. Williams JC, Barratt-Boyes BG, Lowe JB. Supravalvular aortic stenosis. Circulation. 1961; 24:1311–1318.

10. Castelo-Branco M, Mendes M, Sebastião AR, et al. Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders. J Clin Invest. 2007; 117:3720–3729.

11. Greenberg F, Lewis RA. The Williams syndrome. Spectrum and significance of ocular features. Ophthalmology. 1988; 95:1608–1612.

12. Holmström G, Almond G, Temple K, et al. The iris in Williams syndrome. Arch Dis Child. 1990; 65:987–989.

13. Winter M, Pankau R, Amm M, et al. The spectrum of ocular features in the Williams-Beuren syndrome. Clin Genet. 1996; 49:28–31.

14. Kapp ME, von Noorden GK, Jenkins R. Strabismus in Williams syndrome. Am J Ophthalmol. 1995; 119:355–360.

15. Weber SL, Souza RB, Ribeiro LG, et al. Williams syndrome: ophthalmological examination and review of systemic manifestations. J Pediatr Ophthalmol Strabismus. 2014; 51:209–213.