Godel V, Blumenthal M, Iaina A
J Pediatr Ophthalmol Strabismus. 1978 Mar-Apr;15(2):89-91. doi: 10.3928/0191-3913-19780301-09.
Two siblings suffering from congenital Leber amaurosis were found to be affected also by juvenile nephronophtisis. Keratoconus in one child and mental retardation in the other developed during their later growth. An extensive laboratory study showed normal results but revealed an impaired urinary concentrating ability. The hereditary pattern operating in this complex disease was found to be consistent with an autosomal recessive trait.
两名患有先天性莱伯氏先天性黑蒙的兄弟姐妹还被发现患有青少年肾单位肾痨。其中一名儿童在成长后期出现圆锥角膜，另一名则出现智力发育迟缓。广泛的实验室检查结果正常，但显示出尿浓缩能力受损。发现这种复杂疾病的遗传模式与常染色体隐性性状一致。
