Ever wondered what is Leber’s Congenital Amaurosis(LCA)? It is a very rarely inherited eye disease. This is usually diagnosed in children upon birth or in the initial stages of life.
Like I already said, this is a very rare disease and may only be found in 1 out of 80,000 infants.
What is Leber’s Congenital Amaurosis: LCA is known to cause severe vision impairment or in some cases, blindness.
LCA is very rare among infants because for an infant to be born with this disease, both the parents need to have defective genes. Hence, LCA is considered to be an autosomal recessive trait causing the disorder to develop at the time of birth or just within a few months.
Common Traits of LCA: LCA in children can be of two kinds.
- One kind of LCA may render a child completely blind. While, the other may be only left with minimal vision as the pathology of LCA stops progressing.
- Children affected by LCA are either born with or tend to develop involuntary eye movements(like in nystagmus). The basic construction of the eye would be affected though the eye would seem normal on the outside.
- In an effort to see properly, children suffering from LCA would deliberately fist or finger their eyes so as to stimulate the retina. This could lead to the eyes to go out of shape and would also thin the cornea.
Symptoms of LCA: The first sign or symptom which would show that a child could be affected by LCA is lack of visual stimulus. This could happen at the time of birth or within a few months from the time of birth.
- The lack of visual stimulus is due to the absence of photo receptors(cones and rods) in the eye that gather light.
- Also, there is every chance that children affected by LCA would develop cataracts in the eye within the first 20 years of their life.
- In some cases, children would develop hearing loss.
- Due to the improper development of cerebellum children might even become mentally retarded over a period of time.
- Children with LCA, owing to their minimal vision can only make out hand motions or just be able to differentiate light from dark.
Diagnosis: Diagnosing LCA can be very challenging. The challenges can be:
- Analysing visual stimulus in infants is not easy.
- Also, deducing an infant or child’s behaviour is very difficult.
- Another major worry can be differentiating LCA from other diseases that cause visual impairment.
So you must now have understood what is Leber’s Congenital Amaurosis. The problem with LCA is it has no treatment. Researchers are working on gene therapy to treat LCA.
