[具有正常眼电图的贝斯特病。家族性黄斑营养不良病例报告]

[Best's disease with normal EOG. Case report of familial macular dystrophy].

作者信息

Pollack K, Kreuz F R, Pillunat L E

机构信息

Universitätsaugenklinik, Dresden.

出版信息

Ophthalmologe. 2005 Sep;102(9):891-4. doi: 10.1007/s00347-004-1088-z.

DOI:10.1007/s00347-004-1088-z

PMID:15657694

Abstract

Best's disease is an autosomal dominant disorder with incomplete penetrance and variable expression. A typical characteristic of Best's disease is a pathological EOG. We describe four members of a family with bilateral, subfoveal vitelliform lesions. The EOG was normal in all cases. Genetic analysis of the oldest son indicated a heterozygotic mutation Ala234Val in the VMD2 gene, so-called bestrophin gene, which is associated with Best's disease. Molecular genetic analysis also found Best's disease with a normal EOG. A normal EOG cannot exclude Best's disease. The family members should receive genetic consultation and if wished analysis of the VMD2 gene.

摘要

贝斯特病是一种常染色体显性疾病，具有不完全外显率和可变表达。贝斯特病的一个典型特征是异常的眼电图。我们描述了一个家族中的四名成员，他们患有双侧黄斑中心凹下卵黄样病变。所有病例的眼电图均正常。对长子的基因分析表明，其VMD2基因存在杂合突变Ala234Val，即所谓的贝斯特蛋白基因，该基因与贝斯特病相关。分子遗传学分析也发现了眼电图正常的贝斯特病。眼电图正常不能排除贝斯特病。家族成员应接受遗传咨询，并根据意愿进行VMD2基因分析。