Leber's amaurosis
Leber's Congenital Amaurosis Leber's Congenital Amaurosis (LCA) is a rare genetic eye disorder that primarily affects the retina, the specialized tissue at the back of the eye that detects light and color. It is one of the most common causes of inherited blindness in children.
Overview[edit | edit source]
LCA is characterized by severe vision loss at birth or in the first few months of life. It is named after the German ophthalmologist Theodor Leber, who first described the condition in the 19th century.
Symptoms[edit | edit source]
The symptoms of LCA can vary, but they typically include:
- Severe visual impairment or blindness from birth
- Nystagmus, which is an involuntary movement of the eyes
- Photophobia, or sensitivity to light
- Poor pupillary response
- Eye-poking or pressing, known as oculodigital reflex
Genetics[edit | edit source]
LCA is an autosomal recessive disorder, meaning that a child must inherit two copies of the mutated gene, one from each parent, to be affected. There are at least 25 different genes associated with LCA, including:
Each of these genes plays a crucial role in the development and function of the retina.
Diagnosis[edit | edit source]
Diagnosis of LCA is based on clinical examination, family history, and genetic testing. Electroretinography (ERG) is often used to assess the function of the retina.
Treatment[edit | edit source]
Currently, there is no cure for LCA, but treatments are being developed. Gene therapy has shown promise, particularly for mutations in the RPE65 gene. Supportive treatments include:
- Low vision aids
- Orientation and mobility training
- Educational support
Research[edit | edit source]
Ongoing research is focused on understanding the genetic basis of LCA and developing new treatments. Clinical trials are exploring the efficacy of gene therapy and other innovative approaches.
See Also[edit | edit source]
- Retinitis Pigmentosa
- Inherited Retinal Diseases
- Gene Therapy
- "Leber's Congenital Amaurosis." Genetics Home Reference. U.S. National Library of Medicine.
- "Gene Therapy for Leber's Congenital Amaurosis." National Eye Institute.
External Links[edit | edit source]
- [Foundation Fighting Blindness](https://www.fightingblindness.org/)
- National Organization for Rare Disorders (NORD)
NIH genetic and rare disease info[edit source]
Leber's amaurosis is a rare disease.
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Contributors: Prab R. Tumpati, MD
