Leber's congenital amaurosis

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Syndrome characterised by severe visual deficiency, with total or nearly total blindness, present at birth or shortly thereafter.

Description

Syndrome characterised by severe visual deficiency, with total or nearly total blindness, present at birth or shortly thereafter; pendular or searching nystagmus, sunken eyeballs, photophobia, and the digito-ocular sign (Franceschetti-Leber phenomenon), with slowly progressive retinal atrophy. Cataract and keratoconus are variable components. Mental retardation, epileptic seizures, and hearing disorders frequently occur.

It is an autosomal recessive disorder thought to be caused by abnormal development of photoreceptors.

Leber congenital amaurosis is amongst the most common of genetic eye disorders. It may occur in several members of the same family. Both sexes affected. Males are usually affected with transmission through female members.

In his article of 1869 Leber used the term "retinitis pigmentosa with congenital amaurosis". Many years later he distinguished this condition from Tay-Sachs disease and classic, undifferentiated retinitis pigmentosa.

We thank Amber Purpura for information submitted.

Bibliography

  • T. Leber:
    Über Retinitis pigmentosa und angeborene Amaurose.
    [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25.

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