|Year : 2018 | Volume
| Issue : 2 | Page : 156
Neha Chauhan1, Gaurav Sharma2, Rajeev Tuli2
1 Department of Ophthalmology, Regional Hospital, Kullu, Himachal Pradesh, India
2 Department of Ophthalmology, Dr. Rajendra Prasad Government Medical College, Kangra, Himachal Pradesh, India
|Date of Web Publication||28-Aug-2018|
Department of Ophthalmology, Regional Hospital, Kullu, Himachal Pradesh
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Chauhan N, Sharma G, Tuli R. Author's reply. Kerala J Ophthalmol 2018;30:156
In response to the letter to editor as submitted by Chauhan A et al., I put forth the various types of Waardenburg syndrome and their phenotypic variations along with the inheritance pattern and the diagnostic criteria for the most common type, Waardenburg syndrome type 1.
[Table 1] shows the classification of Waardenburg syndrome (WS) (1–5 are the phenotypes).
|Table 1: Classification of Waardenburg Syndrome (1-5 are the phenotypes)|
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Note – Phenotype (1) Pigmentary disturbance of skin, hair, and iris; Phenotype (2) Deafness; Phenotype (3) Dystopia canthorum; Phenotype (4) Upper limb abnormalities; and Phenotype (5) Aganglionic megacolon. The asterisk indicates the presence in about 1/5 cases and the double asterisk indicates the presence in about 3/4 cases.
The diagnostic criteria given for Waardenburg syndrome 1(most common type) includes five major and five minor criteria:
- Congenital sensorineural hearing loss
- White forelock, hair hypopigmentation
- Pigmentation abnormality of the iris
- Dystopia canthorum, W index >1.95
- Affected first-degree relative.
- Skin hypopigmentation (congenital leukoderma)
- Synophrys and/or medial eyebrow flare
- Broad/high nasal root, low-hanging columella
- Underdeveloped alae nasi
- Premature gray hair (age <30 years).
The diagnosis of WS1 is established in a proband with two major criteria or one major plus two minor criteria as proposed by the Waardenburg Consortium (Farrer et al. 1992).
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