Sears J, Gilman J, Sternberg P
Department of Ophthalmology, Emory Eye Center, Emory University School of Medicine, Atlanta, GA 30322, USA.
Arch Ophthalmol. 1998 Sep;116(9):1185-8. doi: 10.1001/archopht.116.9.1185.
Familial arteriolar tortuosity is an autosomal dominant disorder affecting the retinal arterioles.
To report a pedigree with this disorder and describe a systemic workup to determine whether this vascular abnormality is limited to the eye.
A 58-year-old woman referred for retinal hemorrhages was found to have retinal arteriolar tortuosity of both eyes, especially in the macular area. Her 63-year-old brother had a history of retinal hemmorhages beginning at age 18 years and had similar fundoscopic examination findings. The proband had an extensive systemic workup, including magnetic resonance imaging, and cardiac and renal angiography, that failed to demonstrate any other sequelae of this inherited ocular syndrome. However, each member of the family expressing this phenotype did have hypertension.
Inherited retinal arteriolar tortuosity is an autosomal dominant disorder limited to the eye, at least in this pedigree, within the sensitivity of the systemic workup we used.
家族性小动脉迂曲是一种常染色体显性疾病，影响视网膜小动脉。
报告一个患有该疾病的家系，并描述全面的系统检查以确定这种血管异常是否仅限于眼部。
一名因视网膜出血前来就诊的58岁女性被发现双眼存在视网膜小动脉迂曲，尤其是在黄斑区。她63岁的哥哥自18岁起就有视网膜出血病史，眼底检查结果相似。先证者接受了包括磁共振成像、心脏和肾脏血管造影在内的全面系统检查，但未发现这种遗传性眼部综合征的任何其他后遗症。然而，该家族中表现出这种表型的每个成员都患有高血压。
遗传性视网膜小动脉迂曲是一种仅限于眼部的常染色体显性疾病，至少在这个家系中，在所使用的系统检查的敏感度范围内是这样。
