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Autosomal recessive microcephaly, mental retardation with nonpigmentary retinopathy and a distinctive
M G Harbord1, S R Lambert, A Kriss
1Hospital for Sick Children, London, England.
Neuropediatrics
|August 1, 1989
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.