|
Disclaimer:
Whonamedit.com does not give medical advice.
This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.
|
A recommendation:
Hypography is an open community about science and all things related
|
|
|
Leber's congenital amaurosis
Also known as:
Leber’s abiotrophy
Leber’s Syndrome II
Associated persons:
Theodor Karl Gustav von Leber
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. Inheritance is autosomal recessive and heterogeneity is probable.
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.
Bibliography:
- T. Leber:
Über Retinitis pigmentosa und angeborene Amaurose.
[Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25.
|
|
|
