Advancements in ophthalmological research on Waardenburg syndrome_Chinese Journal of Ocular Fundus Diseases

Authors：

 Liu Ruoxi ¹ , Fang Yi ² , Li Zhaohui ³ , Yang Fang ⁴

1. Department of Ophthalmology, The Second Affiliated Hospital of Heilongjiang University of Chinese Medicine, Harbin 150001, China;
2. Department of Ophthalmology, Mingshui Kangying Hospital, Heilongjiang Suihua 152001, China;
3. Eye Center, Changchun Guowen Hospital, Changchun 136199, China;
4. Harbin Purui Eye Hospital, Harbing 150001, China;

Corresponding author：

Liu Ruoxi, Email: lanqingbingyu@163.com

Keywords：

Waardenburg syndrome; Genetic disorder; Genetic mutation; Heterochromia iridum; Choroidal pigment deposition; Review

DOI：

10.3760/cma.j.cn511434-20231107-00445

Video：

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Abstract Full text Figures/Tables Video References Cited by

Waardenburg syndrome is a rare genetic disease of auditory pigmentation. The main symptom is sensorineural hearing loss. Pigment disorders and other developmental defects in skin, hair, iris, fundus and other parts are specifically divided into four different subtypes, each of which corresponds to different pathogenic genes, which encode transcription factors and signaling molecules that play a key role in the development process of neural crest cells into melanocytes. Because there are multiple subtypes of Waardenburg syndrome, different subtypes exhibit different symptoms, signs and ocular manifestations. Patients with Waardenburg syndrome are often first treated in ENT head and neck surgery due to hearing loss. Lack of theoretical knowledge related to Waardenburg syndrome by ophthalmologists may lead to misdiagnosis or missed diagnosis. Although there are currently limited treatments for the disease, with the continuous development of gene therapy and hearing management methods, the future treatment prospects will be broader.

Citation： Liu Ruoxi, Fang Yi, Li Zhaohui, Yang Fang. Advancements in ophthalmological research on Waardenburg syndrome. Chinese Journal of Ocular Fundus Diseases, 2024, 40(7): 560-563. doi: 10.3760/cma.j.cn511434-20231107-00445 Copy

1.	Nayak CS, Isaacson G. Worldwide distribution of Waardenburg syndrome[J]. Ann Otol Rhinol Laryngol, 2003, 112 (9Pt 1): 817-820. DOI: 10.1177/000348940311200913.
2.	Hornyak TJ. The developmental biology of melanocytes and its application to understanding human congenital disorders of pigmentation[J]. Adv Dermatol, 2006, 22: 201-218. DOI: 10.1016/j.yadr.2006.09.002.
3.	Read AP, Newton VE. Waardenburg syndrome[J]. J Med Genet, 1997, 34(8): 656-665. DOI: 10.1136/jmg.34.8.656.
4.	Shields CL, Nickerson SJ, Al-Dahmash S, et al. Waardenburg syndrome: iris and choroidal hypopigmentation: findings on anterior and posterior segment imaging[J]. JAMA Ophthalmol, 2013, 131(9): 1167-1173. DOI: 10.1001/jamaophthalmol.2013.4190.
5.	Bondurand N, Dastot-Le Moal F, Stanchina L, et al. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4[J]. Am J Hum Genet, 2007, 81: 1169-1185. DOI: 10.1086/522090.Epub2007Oct22.
6.	Huang S, Song J, He C, et al. Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome[J]. Gene Ther, 2022, 29(9): 479-497. DOI: 10.1038/s41434-021-00240-2.
7.	Dessinioti C, Stratigos AJ, Rigopoulos D, et al. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes[J]. Exp Dermatol, 2009, 18(9): 741-749. DOI: 10.1111/j.1600-0625.2009.00896.x.
8.	Pingault V, Ente D, Dastot-Le Moal, et al. Review and update of mutations causing Waardenburg syndrome[J]. Hum Mutat, 2010, 31(4): 391-406. DOI: 10.1002/humu.21211.
9.	Slavotinek AM. Eye development genes and known syndromes[J]. Mol Genet Metab, 2011, 104(4): 448-456. DOI: 10.1016/j.ymgme.2011.09.029.
10.	Baldwin CT, Hoth CF, Macina RA, et al. Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature[J]. Am J Med Genet, 1995, 58(2): 115-122. DOI: 10.1002/ajmg.1320580205.
11.	Al-Najmi Y, Abdalla Elsayed MEA, Alsaggaf K, et al. Unilateral high intraocular pressure, cataract, and retinal detachment in Waardenburg syndrome[J]. Case Rep Ophthalmol, 2023, 14(1): 203-208. DOI: 10.1159/000529278.
12.	Newton VE. Clinical features of the Waardenburg syndromes[J]. Adv Otorhinolaryngol, 2002, 61: 201-208. DOI: 10.1159/000066810.
13.	Astakhov YS, Tultseva SN, Lisochkina AB, et al. Ophthalmologic manifestations of Waardenburg syndrome[J]. Vestn Oftalmol, 2019, 135(6): 91-99. DOI: 10.17116/oftalma201913506191.
14.	Rennie IG. Don't it make my blue eyes brown: heterochromia and other abnormalities of the iris[J]. Eye (Lond), 2012, 26(1): 29-50. DOI: 10.1038/eye.2011.228.
15.	Que SK, Weston G, Suchecki J, et al. Pigmentary disorders of the eyes and skin[J]. Clin Dermatol, 2015, 33(2): 147-158. DOI: 10.1016/j.clindermatol.2014.10.007.
16.	Ohno N, Kiyosawa M, Mori H, et al. Clinical findings in Japanese patients with Waardenburg syndrome type 2[J]. Jpn J Ophthalmol, 2003, 47(1): 77-84. DOI: 10.1016/s0021-5155(02)00629-9.
17.	Goldberg MF. Waardenburg's syndrome with fundus and other anomalies[J]. Arch Ophthalmol, 1966, 76(6): 797-810. DOI: 10.1001/archopht.1966.03850010799005.
18.	Siatkowski RM, Flynn JT, Hodges AV, et al. Ophthalmologic abnormalities in the pediatric cochlear implant population[J]. Am J Ophthalmol, 1994, 118(1): 70-76. DOI: 10.1016/s0002-9394(14)72844-2.

1. Nayak CS, Isaacson G. Worldwide distribution of Waardenburg syndrome[J]. Ann Otol Rhinol Laryngol, 2003, 112 (9Pt 1): 817-820. DOI: 10.1177/000348940311200913.
2. Hornyak TJ. The developmental biology of melanocytes and its application to understanding human congenital disorders of pigmentation[J]. Adv Dermatol, 2006, 22: 201-218. DOI: 10.1016/j.yadr.2006.09.002.
3. Read AP, Newton VE. Waardenburg syndrome[J]. J Med Genet, 1997, 34(8): 656-665. DOI: 10.1136/jmg.34.8.656.
4. Shields CL, Nickerson SJ, Al-Dahmash S, et al. Waardenburg syndrome: iris and choroidal hypopigmentation: findings on anterior and posterior segment imaging[J]. JAMA Ophthalmol, 2013, 131(9): 1167-1173. DOI: 10.1001/jamaophthalmol.2013.4190.
5. Bondurand N, Dastot-Le Moal F, Stanchina L, et al. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4[J]. Am J Hum Genet, 2007, 81: 1169-1185. DOI: 10.1086/522090.Epub2007Oct22.
6. Huang S, Song J, He C, et al. Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome[J]. Gene Ther, 2022, 29(9): 479-497. DOI: 10.1038/s41434-021-00240-2.
7. Dessinioti C, Stratigos AJ, Rigopoulos D, et al. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes[J]. Exp Dermatol, 2009, 18(9): 741-749. DOI: 10.1111/j.1600-0625.2009.00896.x.
8. Pingault V, Ente D, Dastot-Le Moal, et al. Review and update of mutations causing Waardenburg syndrome[J]. Hum Mutat, 2010, 31(4): 391-406. DOI: 10.1002/humu.21211.
9. Slavotinek AM. Eye development genes and known syndromes[J]. Mol Genet Metab, 2011, 104(4): 448-456. DOI: 10.1016/j.ymgme.2011.09.029.
10. Baldwin CT, Hoth CF, Macina RA, et al. Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature[J]. Am J Med Genet, 1995, 58(2): 115-122. DOI: 10.1002/ajmg.1320580205.
11. Al-Najmi Y, Abdalla Elsayed MEA, Alsaggaf K, et al. Unilateral high intraocular pressure, cataract, and retinal detachment in Waardenburg syndrome[J]. Case Rep Ophthalmol, 2023, 14(1): 203-208. DOI: 10.1159/000529278.
12. Newton VE. Clinical features of the Waardenburg syndromes[J]. Adv Otorhinolaryngol, 2002, 61: 201-208. DOI: 10.1159/000066810.
13. Astakhov YS, Tultseva SN, Lisochkina AB, et al. Ophthalmologic manifestations of Waardenburg syndrome[J]. Vestn Oftalmol, 2019, 135(6): 91-99. DOI: 10.17116/oftalma201913506191.
14. Rennie IG. Don't it make my blue eyes brown: heterochromia and other abnormalities of the iris[J]. Eye (Lond), 2012, 26(1): 29-50. DOI: 10.1038/eye.2011.228.
15. Que SK, Weston G, Suchecki J, et al. Pigmentary disorders of the eyes and skin[J]. Clin Dermatol, 2015, 33(2): 147-158. DOI: 10.1016/j.clindermatol.2014.10.007.
16. Ohno N, Kiyosawa M, Mori H, et al. Clinical findings in Japanese patients with Waardenburg syndrome type 2[J]. Jpn J Ophthalmol, 2003, 47(1): 77-84. DOI: 10.1016/s0021-5155(02)00629-9.
17. Goldberg MF. Waardenburg's syndrome with fundus and other anomalies[J]. Arch Ophthalmol, 1966, 76(6): 797-810. DOI: 10.1001/archopht.1966.03850010799005.
18. Siatkowski RM, Flynn JT, Hodges AV, et al. Ophthalmologic abnormalities in the pediatric cochlear implant population[J]. Am J Ophthalmol, 1994, 118(1): 70-76. DOI: 10.1016/s0002-9394(14)72844-2.

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