Laurence-Moon syndrome

Alternative eponyms

Related people

A syndrome of retinitis pigmentosa, loss of vision progressing to blindness, mental retardation, stunted stature and hypogonadism.

Description

Laurence-Moon and Biedl-Bardet are two different entities.

Laurence-Moon syndrome comprises retinitis pigmentosa, initially, problem of night vision; then central vision and then peripheral vision loss progressing to blindness. Also mental retardation, stunted stature and hypogonadism. Spinocerebellar ataxia and progressive spastic paraplegia are variable components. Onset in childhood. Inheritance is autosomal recessive.

Biedl-Bardet syndrome has similar manifestations but lacks neurological dysfunction, while obesity and polydactyly are additional features.

The complete syndrome is seldom observed in the same individual, but the features are often scattered among the siblings of one family or generation. Members of these families have an increased number of miscarriages and early deaths.

Laurence and Moon first described the disorder in 1866. Robert Charles Moon, an American, was then Laurence's house surgeon in London. Their report described four out of eight siblings with retinitis pigmentosa, lack of intelligence, short stature for their age and hypogenitalism in the males. A few years later the same family was re-examined and some noted to have spastic paraparesis.

See also Bardet-Biedl syndrome, under Georges Louis Bardet, French physician, born 1885.

Bibliography

  • J. Z. Laurence, R. C. Moon:
    Four cases of ┬źretinitis pigmentosa┬╗ occurring in the same family, and accompanied by general imperfections of development.
    Ophthalmic Review, London, 1866, 2: 32-41.

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