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Norrie(丹麦,1927)首先报告本病。主要征状为双眼失明和白色瞳孔。Warburg(1966)研究了6个家族的35例,认为是X染色体隐性遗传病。患儿在生后不久或数月内双眼瞳孔变白,晶体后玻璃体中有血管丰富的黄白色团块组织。常有前房浅,虹膜萎缩、后粘连及色素层外翻,睫状突被拉长等;有时出现视网膜全脱离或眼底出血。随年龄而逐渐加重,继而角膜、晶体混浊,眼球萎缩。约30％的病人自青壮年时期即出现进行性听力障碍,智力低下等。
Norrie (Denmark, 1927) first reported the disease. The main symptoms are blindness and white pupil. Warburg (1966) studied 35 of the six families and considered X-linked recessive disease. Children with short-term or within a few months after pupil white, crystal vitreous in the blood-rich yellow-white clumps of tissue. Often anterior chamber shallow, iris shrinkage, after the adhesion and the pigment layer valgus, ciliary processes are elongated, etc .; sometimes retinal detachment or retinal hemorrhage. Gradually increase with age, followed by cornea, crystal opacity, eye atrophy. About 30% of patients from early adulthood appeared progressive hearing loss, mental retardation and so on.