The Rare Disease Report Podcast: Leber's Congenital Amaurosis


Stephen Russell, MD, talks about promising new data that has the potential to provide a breakthrough for treating the most common mutation of the rare genetic eye disease.

Quick Facts about Leber's Congenital Amaurosis

  • Prevalence estimated to be 1-2/100,000 births
  • The disorder is passed on through an autosomal recessive fashion
  • Affected individuals are typically born blind at birth
  • Roughly 27 genes are associated with LCA
  • Electroretinography (ERG) can be utilized in diagnosis
  • Absence or reduction of the electrical activity in the retina is an important marker of the disease

Quotes of Interest

These children typically present with roving eyes. They tend not to fix on a parent and have delayed visual maturation. In the case of Leber's Congenital Amaurosis, they have progressive visual loss.
Parental enthusiam for intervention is very high in this disease because each parent knows that they contributed to the problem. Although, I try not to emphasize any of those things because nobody can really control what the genes are that their children get.
Very few [patients] are actually on the wall chart in terms of their visual acuity by the time they are 20.
The only way to really treat this disease is to treat the mutation in vivo.

Patient with Leber’s Congenital Amaurosis (LCA)—a rare inherited eye disorder that primarily affects the retina—have few to no treatment options, and the condition itself can certainly be burdensome for patient and families.

The most common symptoms associated with the recessive genetic disorder is severe visual impairment and blindness. Patients may also experience photophobia, strabismus, enophthalmos, and extreme farsightedness among other ocular symptoms.

According to the National Organization for Rare Disorders (NORD), “at least 27 genes are implicated” in the monogenic disease. The most common form of the disease is LCA 10, caused by mutations in the CEP290 gene.

This episode of the Rare Disease Report features Stephen Russell, MD, of the Institute for Vision Research at the University of Iowa. He discussed recent data presented at this year’s annual Association for Research in Vision and Ophthalmology (ARVO) meeting that support the therapeutic potential of investigational oligonucleotide sepofarsen for LCA 10.

Russel further explained the causes behind LCA and LCA 10, the quality of life in affected patients, current screening practices, as well as trajectories in research for this domain.

He offered insight into treatment strategies for these patients and reflected on the future of care for those living with LCA 10 and other mutations.

Listen to The Rare Disease Report on your favorite podcast platforms, including Spotify and Apple Podcasts.

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Elizabeth Cerceo, MD | Credit: ACP
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