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CASE REPORT WAARDENBURG SYNDROME TYPE I WITH IRIS AND RETINAL COLOBOMA

Jurnal SainHealth

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Title CASE REPORT WAARDENBURG SYNDROME TYPE I WITH IRIS AND RETINAL COLOBOMA
 
Creator Lestari, Atina Yustisia
Prastyani, Reni
 
Subject Waardenberg syndrome; iris coloboma; retinal coloboma
 
Description We present a rare case report, Waardenberg syndrome type I, and ocular abnormalities related to the disease. A Boy, 11 months, presented with blue and hole in inferior iris. Patien also controlled to pediatric and ENT departement according his global developmental delayed, and unresponsiveness to sound stimulus since birth. Patient presented with distophia cantrorum, bilateral iris coloboma, brilliant blue iris, and retinal coloboma. Others systemic condition were skin hypopigmentation, bilateral sensorineural hearing lost, and global developmental delay equal to 6 months old baby. According to manifestations, this supporting diagnosis for Waardenberg syndrome type I. The management consists in treating the symptoms accordingly.  Careful follow up and work up is important to improve patient quality of life 
 
Publisher Faculty of Health Sciences Universitas Maarif Hasyim Latif
 
Contributor —
 
Date 2020-05-14
 
Type info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
—
 
Format application/pdf
 
Identifier https://e-journal.umaha.ac.id/index.php/sainhealth/article/view/703
10.51804/jsh.v4i1.703.8-10
 
Source Jurnal SainHealth; Vol 4, No 1 (2020): Maret 2020; 8-10
2549-2586
2548-8333
 
Language eng
 
Relation https://e-journal.umaha.ac.id/index.php/sainhealth/article/view/703/557
 
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