LCA Symptoms

LCA Symptoms

While LCA can manifest differently in affected individuals and there are different classes of LCA, there are some symptoms that are classically linked to LCA and appear very early in life. Parents may notice that the child does not focus on things around them or they may notice nystagmus, which is involuntary jerky rhythmic eye movement. Photophobia (sensitivity to light), slow pupillary response to light and eye-pressing or rubbing with fingers or knuckles are also common early symptoms. Eye pressing or rubbing can cause damage to the outer parts of the eye and affect the fatty tissue a is common in young children and babies with low vision.

Children with LCA usually have severe vision loss of 20/400 or worse, meaning that they can see at 20 feet what a person with “normal” vision can see at 400 feet. Some children may have only light/dark perception, and in fewer cases no vision at all. Children with some vision may have other symptoms such as night blindness, light sensitivity, and far-sightedness. There are rare genetic syndromes that mimic LCA vision loss in young children, including Alström syndrome, Batten disease, Joubert syndrome, and peroxisomal diseases (Zellweger syndrome or Refsum disease).

Children with these conditions have vision loss similar to LCA, as well as other physical or mental disabilities. A child diagnosed with true LCA (not one of the syndromes listed above) may, in rare cases, be more vulnerable to kidney disease than other children. Compared to the general population, however, they do not have a greater risk of either intellectual disabilities or autism.

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