Harbord M G, Lambert S R, Kriss A, Brett E M, Baraitser M, Supramaniam G
Hospital for Sick Children, London, England.
Neuropediatrics. 1989 Aug;20(3):139-41. doi: 10.1055/s-2008-1071279.
The association of microcephaly and mental retardation with a non-pigmentary retinopathy is described in three siblings of consanguineous parents. The electroretinogram showed the distinctive appearance of markedly attenuated "b" wave but normal "a" wave suggestive of a retinal dystrophy primarily affecting post-receptoral elements in the inner retina. This appears to be an autosomal recessive condition which has not been previously reported.
在一对近亲结婚父母的三个子女中，描述了小头畸形、智力迟钝与非色素性视网膜病变的关联。视网膜电图显示出独特表现，即“b”波明显衰减而“a”波正常，提示这是一种主要影响视网膜内层感受器后成分的视网膜营养不良。这似乎是一种此前未被报道的常染色体隐性疾病。
