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Amaurosis congenita of Leber, type 1

Amaurosis congenita of Leber, type 1: Introduction

Amaurosis congenita of Leber, type 1: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type I is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 17p13.1, RETGC1 gene. More detailed information about the symptoms, causes, and treatments of Amaurosis congenita of Leber, type 1 is available below.

Symptoms of Amaurosis congenita of Leber, type 1

Treatments for Amaurosis congenita of Leber, type 1

  • There is no definitive treatment at this stage but research into the use of gene therapy is showing promise. Patients who do retain some level of vision can use various aids to improve their day-to-day functioning: low-vision aids, optical aids, computer-based aids and electronic aids. Other measures which can assist visually impaired patients are: mobility training, assistance with job placement and adaptive training skills
  • more treatments...»

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Causes of Amaurosis congenita of Leber, type 1

Read more about causes of Amaurosis congenita of Leber, type 1.

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Definitions of Amaurosis congenita of Leber, type 1:

Amaurosis congenita of Leber, type 1 is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Amaurosis congenita of Leber, type 1, or a subtype of Amaurosis congenita of Leber, type 1, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

 

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