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Neuropediatrics. 1989 Aug;20(3):139-41.

Autosomal recessive microcephaly, mental retardation with nonpigmentary retinopathy and a distinctive electroretinogram.

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1
Hospital for Sick Children, London, England.

Abstract

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.

PMID:
2779741
DOI:
10.1055/s-2008-1071279
[Indexed for MEDLINE]
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