Literature DB >> 24351514

Anisometropic amblyopia in a case of type 2 Waardenburg syndrome.

Ali Akal1, Tugba Göncü, Nurefsan Boyaci, Ömer Faruk Yılmaz.   

Abstract

This study presents a case of an 8-year-old boy with iris heterochromia and anisometropic amblyopia who was diagnosed with Waardenburg syndrome (WS) type 2. An ophthalmic examination revealed iris heterochromia and anisometropic amblyopia in our patient. In the systemic examination, a white forelock and vitiligo on the arms and body were observed and neurosensory hearing loss was revealed, for which the patient used hearing aids. Identification and typing of patients with WS is crucial to address neurosensory hearing loss, glaucoma and fundus changes. While it might be challenging to communicate with a patient with speech and hearing problems, visual acuity should be examined carefully and probable amblyopia should be identified. Anterior segment changes and signs of glaucoma should also be evaluated in detail.

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Mesh:

Year:  2013        PMID: 24351514      PMCID: PMC3888530          DOI: 10.1136/bcr-2013-201140

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  10 in total

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Journal:  Br J Ophthalmol       Date:  2001-11       Impact factor: 4.638

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Authors:  Anna Krishtul; Ibrahim Galadari
Journal:  Int J Dermatol       Date:  2003-08       Impact factor: 2.736

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Authors:  P J WAARDENBURG
Journal:  Am J Hum Genet       Date:  1951-09       Impact factor: 11.025

6.  Branch retinal vein occlusion in a patient with Waardenburg syndrome.

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Journal:  Ophthalmologica       Date:  1996       Impact factor: 3.250

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Authors:  K M Grundfast; J L Atwood; D Chuong
Journal:  Otolaryngol Clin North Am       Date:  1999-12       Impact factor: 3.346

8.  Risk factors for treatment failure of anisometropic amblyopia.

Authors:  Mohamed A W Hussein; David K Coats; Arpitha Muthialu; Ethan Cohen; Evelyn A Paysse
Journal:  J AAPOS       Date:  2004-10       Impact factor: 1.220

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Authors:  T M Nork; Z M Shihab; R S Young; J Price
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1986       Impact factor: 3.117

10.  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.

Authors:  L A Farrer; K M Grundfast; J Amos; K S Arnos; J H Asher; P Beighton; S R Diehl; J Fex; C Foy; T B Friedman
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

  10 in total
  2 in total

1.  Association of type II Waardenburg syndrome with hypermetropic amblyopia.

Authors:  Shee Wen Chua; Safinaz Mohd Khialdin; Mushawiahti Mustapha; Norshamsiah Md Din; Meng Hsien Yong
Journal:  Int J Ophthalmol       Date:  2022-04-18       Impact factor: 1.779

2.  Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II.

Authors:  Maan Abdullah Albarry; Ahdab Qasem Alreheli; Alia M Albalawi; Sulman Basit
Journal:  Saudi J Ophthalmol       Date:  2019-09-18
  2 in total

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