Leber Congenital Amaurosis with Early-Onset Deafness

Background and History: 

Leber congenital amaurosis is a hereditary neurological disorder that primarily affects the retina.  There are nearly 20 conditions with similar clinical findings but each is caused by a unique mutation (change) in DNA.

The disorder described here is unusual because hearing loss occurs with the retinal disease.  One report containing 5 patients in 4 families has been published.

Clinical Correlations: 

Five individuals in 4 families have been described in a single report.  Three patients were diagnosed at birth using an ERG (electroretinogram) test.  Characteristic changes can be seen by examination of the retina by 3 years of age.  Reports suggest there is some progression of these changes.  Little is known about vision but some older individuals with this disorder can have nearly normal vision but all are usually farsighted.

Hearing loss also occurs early as well and is usually diagnosed by hearing tests in the first decade of life.


This is an autosomal dominant disorder that is inherited in a vertical pattern which is transmitted from parent to child with a 50% probability.

See also Leber Congenital Amaurosis in this database.

Diagnosis and Prognosis: 

The retinal disease can only be diagnosed by an eye doctor through clinical examination and the use of an ERG test.  The hearing deficit can be documented by hearing tests.  This is the only type of Leber congenital amaurosis associated with hearing loss.  There are no other neurological or physical abnormalities.

Patients should be evaluated throughout life for progression of vision and hearing loss.  Assistive hearing devices may be of considerable benefit.  For patients with vision loss consideration should be given to the use of corrective lenses (glasses or contact lenses).  For patients with significant loss of vision, low vision aids can be helpful, especially during school years.

Additional Information
Autosomal dominant