Leber Congenital Amaurosis: Leading Cause of Inherited Blindness in Children

被引:1
|
作者
Schmitt, Tonya M. [1 ]
Ohns, Mary Jean [1 ]
DeVries, Jennifer J. [1 ]
机构
[1] Univ Toledo, Coll Nursing, Toledo, OH 43606 USA
来源
JNP- THE JOURNAL FOR NURSE PRACTITIONERS | 2023年 / 19卷 / 05期
关键词
Leber congenital amaurosis; pediatric visual impairment; hereditary retinal disorders; progressive blindness;
D O I
10.1016/j.nurpra.2023.104560
中图分类号
R47 [护理学];
学科分类号
1011 ;
摘要
Leber congenital amaurosis is a group of severe congenital retinal conditions and the leading cause of inherited blindness in children. Symptoms, typically present in the first 6 months of life, include nystagmus, strabismus, photophobia, abnormal or absent pupillary responses, and cataracts. Eye exami-nations and visual assessments are an essential part of well-child visits. The primary care practitioner may be the first to identify symptoms or hear parents' concerning findings during routine eye examinations at well-child or episodic visits. Early recognition of deviations from normal that lead to prompt ophthal-mology referrals can result in timely diagnosis and optimized treatment to improve outcomes and quality of life.(c) 2023 Published by Elsevier Inc.
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页数:4
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