Leber's congenital amaurosis

The Leber Congenital Amaurosis ( Greek = ἀμαυρός ( amauros ) " dark, blind" ), also known as congenital amaurosis or LCA Tapeto - retinal, is a congenital disorder of the pigment epithelium of the retina with degenerative manifestations of the choroid. It is a hereditary disease and was first described in 1869 by the German ophthalmologist and scientist Theodor Carl Gustav of liver. Sufferers are already significantly visually impaired or blind to the world, and the probability of disease subsequent siblings is about 25 %. More than 10 % of all congenital cases of blindness can be attributed to the Leber Congenital Amaurosis.

Genetic diagnosis

Leber congenital amaurosis is an autosomal recessive trait usually, in rare cases, however, an autosomal dominant trait. The causes of the disease so far different mutations could be identified. So far, 15 subtypes are defined on the basis of different defects:

Affected seems to be, among others, the so-called RPE65 gene whose defects lead to the change of an enzyme that plays an important role in the regeneration of rhodopsin ( visual purple ). Another striking is the appearance in consanguineous marriages.

Clinical picture

In addition to the drastic reduction in visual acuity with corresponding visual field - usually until complete blindness - often occur on a nystagmus with strabismus, decreased sensitivity to glare and direct light reaction of the pupil, as well as hyperopia and later some lens opacity and Keratoglobus. The retinal findings may be normal at first, then shows in disease progression significant damage in the pigment epithelium with depigmentation and a " pepper and salt similar " fundus image, and atrophy of the optic nerve ( optic atrophy ). An unambiguous clarification about the disease and to distinguish them from other congenital Sehnervenatrophien ultimately provides only an electrophysiological investigation in the form of electroretinography ( ERG), in which no stimulus responses are already derive more very soon.

Treatment options

After the Leber Congenital Amaurosis was long considered incurable, genetic research has achieved initial success in terms of a possible treatment to allow using a cloning and the injection of a particular virus under the retina replacement of the defective RPE65 gene. Particularly affected by the disease children to be obtained here long term vision. Animal studies have shown better results especially in young animals than in older ones.

Historical Aspects

Theodore of liver described the disease for the first time in 1869. Two years later he recognized and published their frequent occurrence in relatives. 1957 Carl Henry Alström could prove an autosomal recessive mode of inheritance for 10 % of cases of congenital blindness in Sweden for the first time.