What is the prevalence of Leber Congenital Amaurosis?

How many people does Leber Congenital Amaurosis affect? Does it have the same prevalence in men and women? And in the different countries?

Leber Congenital Amaurosis (LCA) is a rare inherited retinal disorder that causes severe vision loss or blindness from birth or early infancy. It is estimated to affect approximately 2 to 3 per 100,000 individuals worldwide. LCA is characterized by abnormalities in the retina, leading to impaired visual function. Symptoms may include nystagmus, sensitivity to light, and reduced visual acuity. Genetic mutations play a crucial role in the development of LCA, with over 25 genes identified as potential causes. Early diagnosis and genetic testing are essential for appropriate management and potential treatment options.

Leber Congenital Amaurosis (LCA) is a rare inherited eye disorder that primarily affects the retina, leading to severe visual impairment or blindness from birth or early infancy. LCA is estimated to have a prevalence of approximately 1 in 50,000 to 1 in 100,000 individuals worldwide.

Prevalence:

LCA is considered to be one of the most common causes of congenital blindness in children.

It affects both males and females equally.

The prevalence may vary among different populations and ethnicities.

Due to its rarity, LCA is classified as an orphan disease.

Although LCA is a relatively uncommon condition, its impact on affected individuals and their families is significant. The severity of visual impairment can vary, with some individuals experiencing only light perception or limited visual acuity, while others may have complete blindness. Ongoing research and advancements in genetic testing have improved the understanding and diagnosis of LCA, leading to potential treatment options such as gene therapy.