Hogewind B L, Veltkamp J J, Polak B C, van Es L A
Acta Med Scand. 1977;202(4):323-6. doi: 10.1111/j.0954-6820.1977.tb16836.x.
The relatives of two patients with medullary cystic disease associated with retinitis pigmentosa were studied. A new case was found in one of these families, and consanguinity of the parents was established in another. Conventional fundoscopic examination of relatives without renal disease did not show retinal abnormalities, but electro-ophthalmologic investigation demonstrated retinal dysfunction in three relatives, including two of the four parents who may be considered obligatory heterozygotes under the assumption of autosomal recessive inheritance of this syndrome. Less severe electro-ophthalmological abnormalities were observed in the other two parents. It is considered highly probable that all three patients are homozygous for a mutant gene causing both the renal and the retinal abnormalities. The results of this study support the view that medullary cystic disease associated with retinitis pigmentosa is transmitted as an autosomal recessive trait, in contrast to the dominant form, which is reported not to be associated with eye abnormalities. With respect to genetic couseling and donation of kidneys by relatives, it is important to establish the mode of inheritance of cystic medullary disease in a given family. Electro-ophthalmologic examination should therefore be included in the examination of families in which medullary cystic disease occurs.
对两名患有与色素性视网膜炎相关的髓质囊性疾病患者的亲属进行了研究。在其中一个家族中发现了一个新病例，在另一个家族中确定了父母的近亲关系。对无肾脏疾病的亲属进行常规眼底检查未发现视网膜异常，但眼电图检查显示三名亲属存在视网膜功能障碍，其中包括在该综合征为常染色体隐性遗传的假设下可被视为必然杂合子的四名父母中的两名。在另外两名父母中观察到较轻的眼电图异常。认为所有三名患者很可能是导致肾脏和视网膜异常的突变基因的纯合子。本研究结果支持以下观点：与色素性视网膜炎相关的髓质囊性疾病是以常染色体隐性性状遗传的，这与据报道与眼部异常无关的显性形式形成对比。关于遗传咨询和亲属肾脏捐赠，确定特定家族中囊性髓质疾病的遗传方式很重要。因此，在发生髓质囊性疾病的家族检查中应包括眼电图检查。
