De Laey J J
Department of Ophthalmology, University Hospital, Ghent, Belgium.
Bull Soc Belge Ophtalmol. 1991;241:41-50.
Leber's congenital amaurosis is an autosomal recessive disorder, characterized by the onset of blindness before the age of 6 months, a variable fundus aspect and an absent or extremely pathological ERG. The disorder may be isolated or associated with systemic involvement, such as nephronophtisis (Senior-Loken syndrome), nephronophtisis, cone-shaped epiphyses of the hand and cerebellar ataxia (Saldino-Mainzer syndrome), vermis hypoplasia, oculomotor anomalies and respiratory problems in the neonatal period (Joubert syndrome) or cardiomyopathy. It should be differentiated from other forms or chorioretinal dystrophies (juvenile retinitis pigmentosa or congenital stationary night blindness), cortical blindness or maturation delay and metabolic disorders. Children with possible congenital Leber amaurosis should not only have a thorough ophthalmological examination, but should also be seen by a paediatrician experienced in metabolic disorders.
莱伯先天性黑矇是一种常染色体隐性疾病，其特征为在6个月龄前出现失明、眼底表现多样以及视网膜电图（ERG）缺失或极度异常。该疾病可能单独出现，也可能伴有全身受累，如肾发育不全（Senior-Loken综合征）、肾发育不全、手部锥形骨骺和小脑共济失调（Saldino-Mainzer综合征）、小脑蚓部发育不全、动眼神经异常以及新生儿期呼吸问题（Joubert综合征）或心肌病。应将其与其他形式的脉络膜视网膜营养不良（青少年视网膜色素变性或先天性静止性夜盲）、皮质盲或成熟延迟以及代谢紊乱相鉴别。可能患有先天性莱伯黑矇的儿童不仅应接受全面的眼科检查，还应由在代谢紊乱方面经验丰富的儿科医生进行诊治。
