1型戊二酸尿症的眼部表现
Ocular findings in glutaric aciduria type 1.
作者信息
Kafil-Hussain N A, Monavari A, Bowell R, Thornton P, Naughten E, O'Keefe M
机构信息
Department of Pediatric Ophthalmology, The Children's Hospital, Dublin, Ireland.
出版信息
J Pediatr Ophthalmol Strabismus. 2000 Sep-Oct;37(5):289-93.
PURPOSE
To determine the nature and course of ocular abnormalities in glutaric aciduria (acidemia) type 1 (GA1).
METHODS
Fifteen children with GA1 have been studied in the Republic of Ireland. A retrospective review of the records of the 6 children who died during their illness and prospective clinical examination of 9 survivors were performed.
RESULTS
Seven of the 15 children had abnormal eye findings. Ocular complications included intraretinal hemorrhages, cataract, gaze palsy, strabismus, ametropia, and pigmentary retinopathy.
CONCLUSION
Ocular involvement is common in glutaric aciduria. Complete ophthalmologic evaluation is recommended in all patients suspected to have this rare disease. Intraretinal hemorrhages due to GA1 could be misinterpreted as resulting from child abuse, and it is important to include this disorder with the differential diagnosis of child abuse.
目的
确定1型戊二酸尿症（酸血症）（GA1）眼部异常的性质和病程。
方法
在爱尔兰共和国对15名GA1患儿进行了研究。对6名在患病期间死亡患儿的记录进行了回顾性分析，并对9名幸存者进行了前瞻性临床检查。
结果
15名患儿中有7名存在眼部异常表现。眼部并发症包括视网膜内出血、白内障、凝视麻痹、斜视、屈光不正和色素性视网膜病变。
结论
眼部受累在戊二酸尿症中很常见。建议对所有疑似患有这种罕见疾病的患者进行全面的眼科评估。GA1所致的视网膜内出血可能会被误诊为虐待儿童所致，因此在虐待儿童的鉴别诊断中纳入这种疾病很重要。
Zotero 插件