Rare Disease Day – 29 February 2024

Article category: Events .
February 28, 2024
Leber Congenital Amaurosis

On Rare Disease Day 29 February 2024, we stand in solidarity with the 300 million people worldwide living with a rare disease. Rare Disease Day is a globally coordinated movement working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease.

On this special day, Retina South Africa wants to shed light on a specific rare disease – Leber’s Congenital Amaurosis (LCA).

Leber’s Congenital Amaurosis (LCA) is a rare genetic condition that significantly impacts a person’s vision. It affects the development of the retina, the layer at the back of the eyeball that processes light into images. The condition primarily affects the photoreceptors in the retina, known as rods and cones, which are responsible for night vision and colour vision, respectively.

In individuals with LCA, these photoreceptors malfunction, altering the electrical activity in the retina and thereby affecting vision. The severity of vision loss can vary, with some individuals experiencing low vision, while others may be completely blind. Symptoms often appear in infancy and may include increased sensitivity to light (photophobia), involuntary eye movements (nystagmus), and extreme farsightedness (hyperopia). The condition is progressive, meaning vision loss can worsen over time.

LCA is genetically passed through families by the autosomal recessive pattern of inheritance. In this type of inheritance, both parents are carriers of a single copy of a gene mutation.  To date more than 15 genes have been associated with LCA. Gene replacement for the RPE65 form has been in gene replacement clinical trials for many years and will soon become commercially available.  See also the information on genetics and research on our website at https://www.retinasa.org.za/research/current-research/. Call Retina South Africa 0860 59 59 59 to find out about genetic testing.

Despite the challenges, the spirit of those affected by LCA and other rare diseases remains unbroken. Their journey is one of resilience, self-advocacy, and hope. Let’s use today to raise awareness, share our stories, and generate change for all those affected by rare diseases.

To learn more about other rare eye diseases, head on over to our Learn page.  

Remember, we are stronger together. Let’s continue to support each other and work towards a future where every person living with a rare disease has access to the care and therapies they need.

More Articles