Spastic Quadriplegia, Retinitis Pigmentosa, And Mental Retardation

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

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Drugs

Adeno-associated virus serotype 8 containing the human RdCVF sequence and the human RdCVFL sequence, Combination of three adeno-associated viral vectors of serotype 8 containing the 5'-, the body- and the 3'- coding sequences of human CEP290 fused to inteins

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Clinical Features

Gordon et al. (1976) reported 2 sons, of consanguineous parents, who had ostensibly nonprogressive spastic paraplegia, retinitis pigmentosa, and mental retardation. This may be a distinct disorder. It occurred in an inbred Old American kindred of southern Maryland in which the original cases of the Crigler-Najjar syndrome (218800) were found and homocystinuria (236200), Morquio syndrome (253000), Seckel dwarfism (see 210600), metachromatic leukodystrophy (250100), and other recessive disorders have been observed.

Inheritance

Consanguinity and affected sibs in the family reported by Gordon et al. (1976) support autosomal recessive inheritance of the disorder.