• Users Online: 283
  • Home
  • Print this page
  • Email this page
Home About us Editorial board Ahead of print Current issue Search Archives Submit article Instructions Subscribe Contacts Login 


 
 Table of Contents  
AUTHORíS REPLY
Year : 2018  |  Volume : 30  |  Issue : 2  |  Page : 156

Author's reply


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 Publication28-Aug-2018

Correspondence Address:
Neha Chauhan
Department of Ophthalmology, Regional Hospital, Kullu, Himachal Pradesh
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/kjo.kjo_59_18

Rights and Permissions

How to cite this article:
Chauhan N, Sharma G, Tuli R. Author's reply. Kerala J Ophthalmol 2018;30:156

How to cite this URL:
Chauhan N, Sharma G, Tuli R. Author's reply. Kerala J Ophthalmol [serial online] 2018 [cited 2018 Dec 9];30:156. Available from: http://www.kjophthal.com/text.asp?2018/30/2/156/239984

Dear Sir,

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)

Click here to view


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:

Major criteria:

  1. Congenital sensorineural hearing loss
  2. White forelock, hair hypopigmentation
  3. Pigmentation abnormality of the iris
  4. Dystopia canthorum, W index >1.95
  5. Affected first-degree relative.


Minor criteria:

  1. Skin hypopigmentation (congenital leukoderma)
  2. Synophrys and/or medial eyebrow flare
  3. Broad/high nasal root, low-hanging columella
  4. Underdeveloped alae nasi
  5. 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).

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
 
    Tables

  [Table 1]



 

Top
 
 
  Search
 
Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
Access Statistics
Email Alert *
Add to My List *
* Registration required (free)

 
  In this article
Article Tables

 Article Access Statistics
    Viewed147    
    Printed3    
    Emailed0    
    PDF Downloaded19    
    Comments [Add]    

Recommend this journal


[TAG2]
[TAG3]
[TAG4]