常染色体显性遗传性视神经萎缩导致的急性视力丧失会在儿童早期发生吗？
Does acute loss of vision in autosomal dominant optic atrophy occur early in childhood?
作者信息
Kearns Lisa S, Forrest Michael, Cohn Amy C, Churchill Amanda J, Mackey David A
机构信息
Center for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Melbourne, Australia.
出版信息
Ophthalmic Genet. 2010 Mar;31(1):44-6. doi: 10.3109/13816810903479842.
PURPOSE
In contrast to Autosomal dominant optic atrophy (ADOA), acute loss of vision is normally observed in Leber's hereditary optic neuropathy (LHON) patients. We present a case of a young child with ADOA with a confirmed OPA1 mutation who appeared to have had an acute visual loss in the third year of life.
METHODS
Differentiating between ADOA and LHON requires careful documentation of visual symptoms, family history, clinical examination and genetic testing if available.
CONCLUSIONS
This clarifies the clinical diagnosis, ensuring appropriate genetic counselling is provided so that affected individuals are accurately informed on inheritance patterns and implications for family members.
目的
与常染色体显性遗传性视神经萎缩（ADOA）不同，莱伯遗传性视神经病变（LHON）患者通常会出现急性视力丧失。我们报告一例患有确诊OPA1突变的ADOA幼儿病例，该患儿在3岁时似乎出现了急性视力丧失。
方法
区分ADOA和LHON需要仔细记录视觉症状、家族史、临床检查以及（如有可能）进行基因检测。
结论
这有助于明确临床诊断，确保提供适当的遗传咨询，从而使受影响个体准确了解遗传模式及其对家庭成员的影响。
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