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Ophthalmological features and treatments in five cases of Waardenburg syndrome

  • Authors:
    • Yan Liu
    • Hui Pan
    • Jing Wang
    • Qinke Yao
    • Ming Lin
    • Bo Ma
    • Jin Li
  • View Affiliations / Copyright

    Affiliations: Department of Ophthalmology, Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, Shanghai 200011, P.R. China
    Copyright: © Liu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 3072-3077
    |
    Published online on: July 23, 2020
       https://doi.org/10.3892/etm.2020.9035
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Abstract

The present study aimed to investigate the ocular characteristics and treatment of Waardenburg syndrome (WS). A total of five patients with Waardenburg syndrome from our hospital, aged between 1 and 8 years, were included in the present study. The clinical data of these patients were analyzed, and the ocular manifestations and treatments were described. The general manifestations included hearing loss (1/5), broad high nasal root (2/5) and hypoplasia of alae nasi (2/5). Ophthalmological evaluations revealed ptosis (1/5), strabismus 1 (1/5), synophrys (2/5), telecanthus (5/5), iris hypopigmentation (5/5), high intraocular pressure (1/5) and choroidal hypopigmentation (1/5). For patients with characteristic external eye abnormalities, including ptosis, ocular plastic surgery was performed. For patients with only symptoms of iris heterochromia, no special treatment was required. The findings from the present study suggest that patients with WS may have several characteristic ocular manifestations. Abnormalities in the eyelid can be corrected by ocular plastic surgery, which is beneficial to children's physical and mental development.
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1 

Waardenburg PJ: A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet. 3:195–253. 1951.PubMed/NCBI

2 

Read AP and Newton VE: Waardenburg syndrome. J Med Genet. 34:656–665. 1997.PubMed/NCBI View Article : Google Scholar

3 

Chen H, Jiang L, Xie Z, Mei L, He C, Hu Z, Xia K and Feng Y: Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome. Biochem Biophys Res Commun. 397:70–74. 2010.PubMed/NCBI View Article : Google Scholar

4 

Müllner-Eidenböck A, Moser E, Frisch H and Read AP: Waardenburg syndrome type 2 in a Turkish family: Implications for the importance of the pattern of fundus pigmentation. Br J Ophthalmol. 85:1384–1386. 2001.PubMed/NCBI View Article : Google Scholar

5 

Cortés-González V, Zenteno JC, Guzmán-Sánchez M, Giordano-Herrera V, Guadarrama-Vallejo D, Ruíz-Quintero N and Villanueva-Mendoza C: Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations. Am J Med Genet A. 170:3294–3297. 2016.PubMed/NCBI View Article : Google Scholar

6 

Gupta V and Aggarwal HC: Open angle glaucoma as a manifestation of Waardenburg's syndrome. Indian J Ophthalmol. 48:49–50. 2000.PubMed/NCBI

7 

Kadoi C, Hayasaka S and Yamamoto S: Branch retinal vein occlusion in a patient with Waardenburg syndrome. Ophthalmologica. 210:354–357. 1996.PubMed/NCBI View Article : Google Scholar

8 

Meire F, Standaert L, De Laey JJ and Zeng LH: Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis. Am J Med Genet. 27:683–686. 1987.PubMed/NCBI View Article : Google Scholar

9 

Farrer LA, Grundfast KM, Amos J, Arnos KS, Asher JH Jr, Beighton P, Diehl SR, Fex J, Foy C, Friedman TB, et al: Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium. Am J Hum Genet. 50:902–913. 1992.PubMed/NCBI

10 

Shields CL, Nickerson SJ, Al-Dahmash S and Shields JA: Waardenburg syndrome: Iris and choroidal hypopigmentation: Findings on anterior and posterior segment imaging. JAMA Ophthalmol. 131:1167–1173. 2013.PubMed/NCBI View Article : Google Scholar

11 

Li J, Lin M, Zhou H, Jia R and Fan X: Double-eyelid blepharoplasty incorporating blepharoptosis surgery for ‘latent’ aponeurotic ptosis. J Plast Reconstr Aesthet Surg. 64:993–999. 2011.PubMed/NCBI View Article : Google Scholar

12 

Quaranta-Leoni FM, Sposato S, Leonardi A, Iacoviello L and Costanzo S: Timing of surgical correction for the treatment of unilateral congenital ptosis: Effects on cosmetic and functional results. Orbit. 36:382–387. 2017.PubMed/NCBI View Article : Google Scholar

13 

Clauser L, Tieghi R and Galie M: Palpebral ptosis: Clinical classification, differential diagnosis, and surgical guidelines: An overview. J Craniofac Surg. 17:246–254. 2006.PubMed/NCBI View Article : Google Scholar

14 

Gazzola R, Piozzi E, Vaienti L and Wilhelm Baruffaldi Preis F: Therapeutic algorithm for congenital ptosis repair with levator resection and frontalis suspension: Results and literature review. Semin Ophthalmol. 33:454–460. 2018.PubMed/NCBI View Article : Google Scholar

15 

Dave TV, Sharma P, Nayak A, Moharana R and Naik MN: Outcomes of frontalis sling versus levator resection in patients with monocular elevation deficiency associated ptosis. Ophthalmic Plast Reconstr Surg. 35:251–255. 2019.PubMed/NCBI View Article : Google Scholar

16 

Chrisp P and Sorkin EM: Ocular carteolol. A review of its pharmacological properties, and therapeutic use in glaucoma and ocular hypertension. Drugs Aging. 2:58–77. 1992.PubMed/NCBI View Article : Google Scholar

17 

Wallace DK, Repka MX, Lee KA, Melia M, Christiansen SP, Morse CL and Sprunger DT: American Academy of Pediatric Ophthalmology/Strabismus Preferred Practice Pattern Pediatric Ophthalmology Panel: Amblyopia preferred practice pattern®. Ophthalmology. 125:P105–P142. 2018.PubMed/NCBI View Article : Google Scholar

18 

Liu XZ, Newton VE and Read AP: Waardenburg syndrome type II: Phenotypic findings and diagnostic criteria. Am J Med Genet. 55:95–100. 1995.PubMed/NCBI View Article : Google Scholar

19 

Cahill KV, Bradley EA, Meyer DR, Custer PL, Holck DE, Marcet MM and Mawn LA: Functional indications for upper eyelid ptosis and blepharoplasty surgery: A report by the American Academy of Ophthalmology. Ophthalmology. 118:2510–2517. 2011.PubMed/NCBI View Article : Google Scholar

20 

Tamayo ML, Gelvez N, Rodriguez M, Florez S, Varon C, Medina D and Bernal JE: Screening program for Waardenburg syndrome in Colombia: Clinical definition and phenotypic variability. Am J Med Genet A. 146A:1026–1031. 2008.PubMed/NCBI View Article : Google Scholar

21 

Akal A, Göncü T, Boyaci N and Yilmaz ÖF: Anisometropic amblyopia in a case of type 2 Waardenburg syndrome. BMJ Case Rep. 2013(bcr2013201140)2013.PubMed/NCBI View Article : Google Scholar

22 

SooHoo JR, Davies BW, Allard FD and Durairaj VD: Congenital ptosis. Surv Ophthalmol. 59:483–492. 2014.PubMed/NCBI View Article : Google Scholar

23 

Nork TM, Shihab ZM, Young RS and Price J: Pigment distribution in Waardenburg's syndrome: A new hypothesis. Graefes Arch Clin Exp Ophthalmol. 224:487–492. 1986.PubMed/NCBI View Article : Google Scholar

24 

Ohno N, Kiyosawa M, Mori H, Wang WF, Takase H and Mochizuki M: Clinical findings in Japanese patients with Waardenburg syndrome type 2. Jpn J Ophthalmol. 47:77–84. 2003.PubMed/NCBI View Article : Google Scholar

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Copy and paste a formatted citation
Spandidos Publications style
Liu Y, Pan H, Wang J, Yao Q, Lin M, Ma B and Li J: Ophthalmological features and treatments in five cases of Waardenburg syndrome. Exp Ther Med 20: 3072-3077, 2020.
APA
Liu, Y., Pan, H., Wang, J., Yao, Q., Lin, M., Ma, B., & Li, J. (2020). Ophthalmological features and treatments in five cases of Waardenburg syndrome. Experimental and Therapeutic Medicine, 20, 3072-3077. https://doi.org/10.3892/etm.2020.9035
MLA
Liu, Y., Pan, H., Wang, J., Yao, Q., Lin, M., Ma, B., Li, J."Ophthalmological features and treatments in five cases of Waardenburg syndrome". Experimental and Therapeutic Medicine 20.4 (2020): 3072-3077.
Chicago
Liu, Y., Pan, H., Wang, J., Yao, Q., Lin, M., Ma, B., Li, J."Ophthalmological features and treatments in five cases of Waardenburg syndrome". Experimental and Therapeutic Medicine 20, no. 4 (2020): 3072-3077. https://doi.org/10.3892/etm.2020.9035
Copy and paste a formatted citation
x
Spandidos Publications style
Liu Y, Pan H, Wang J, Yao Q, Lin M, Ma B and Li J: Ophthalmological features and treatments in five cases of Waardenburg syndrome. Exp Ther Med 20: 3072-3077, 2020.
APA
Liu, Y., Pan, H., Wang, J., Yao, Q., Lin, M., Ma, B., & Li, J. (2020). Ophthalmological features and treatments in five cases of Waardenburg syndrome. Experimental and Therapeutic Medicine, 20, 3072-3077. https://doi.org/10.3892/etm.2020.9035
MLA
Liu, Y., Pan, H., Wang, J., Yao, Q., Lin, M., Ma, B., Li, J."Ophthalmological features and treatments in five cases of Waardenburg syndrome". Experimental and Therapeutic Medicine 20.4 (2020): 3072-3077.
Chicago
Liu, Y., Pan, H., Wang, J., Yao, Q., Lin, M., Ma, B., Li, J."Ophthalmological features and treatments in five cases of Waardenburg syndrome". Experimental and Therapeutic Medicine 20, no. 4 (2020): 3072-3077. https://doi.org/10.3892/etm.2020.9035
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