LCA10

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LCA10: A Genetically Inherited Retinal Degeneration

Description

LCA10, also known as Leber congenital amaurosis type 10, is a rare genetic disorder that affects the development and function of the retina, the light-sensitive tissue at the back of the eye. It is caused by mutations in the CEP290 gene, which encodes a protein essential for proper photoreceptor cell function.

Associated Diseases

LCA10 is part of a group of inherited retinal diseases known as Leber congenital amaurosis (LCA). This group of disorders is characterized by severe visual impairment, typically present from birth or early childhood. LCA10 is the most common type of LCA, accounting for approximately 15-20% of cases.

Did you Know ?

LCA10 affects an estimated 1 in 40,000 individuals worldwide. However, the prevalence can vary depending on specific populations and regions. For example, it is more common in populations with a high rate of consanguinity (marriage between close relatives).

Symptoms

The symptoms of LCA10 can vary in severity, but typically include:

• Severe visual impairment or blindness from birth or early childhood
• Nystagmus (repetitive, involuntary eye movements)
• Photophobia (sensitivity to light)
• Reduced visual acuity (sharpness)
• Night blindness

Diagnosis

LCA10 is diagnosed based on a combination of:

• Medical history and physical examination
• Eye exam
• Genetic testing to identify mutations in the CEP290 gene

Treatment

Currently, there is no cure for LCA10. However, various treatments and therapies are available to manage symptoms and improve vision. These include:

• Low vision aids (e.g., magnifying glasses, telescopes)
• Light therapy
• Genetic counseling
• Research into gene therapies