Friedlaender M M, Rubinger D, Silver J, Zlotogora J, Merin S, Popovtzer M M
Clin Nephrol. 1986 Apr;25(4):202-6.
A family is described in which autosomal recessive inheritance of retinitis pigmentosa and chronic renal failure occurred. Several features, including late onset of renal failure, lack of salt wasting, the presence of hypertension and blindness in the sixth decade, are unusual and suggest that this may be a previously undescribed syndrome.
本文描述了一个患有色素性视网膜炎和慢性肾衰竭常染色体隐性遗传的家族。该家族存在一些不寻常的特征,包括肾衰竭发病较晚、无失盐现象、存在高血压以及在六十多岁时出现失明,这表明这可能是一种此前未被描述过的综合征。