van Dorp D B, van Balen A T
Ophthalmic Paediatr Genet. 1985 Feb;5(1-2):25-30. doi: 10.3109/13816818509007852.
As an extension of a large pedigree with choroideremia, described by Kurstjens in 1965, a family will be presented. A daughter of an affected male presented with her two carrier daughters and her three unaffected sons. In one daughter, funduscopy did not reveal characteristics specific for the diagnosis of the carrier state for choroideremia. Special attention will be paid to the diagnostic value of fluorescein angiography for final diagnosis and genetic counseling.
作为Kurstjens于1965年描述的一个患有脉络膜缺损的大型家系的延伸，现将介绍一个家族。一名患病男性的女儿带着她的两个携带者女儿和三个未患病的儿子前来。在其中一个女儿中，眼底镜检查未发现脉络膜缺损携带者状态诊断的特异性特征。将特别关注荧光素血管造影对最终诊断和遗传咨询的诊断价值。
