Leber congenital amaurosis (LCA) is a rare, inherited retinal disorder present at birth or early infancy, causing severe vision loss.
- Genetics: Autosomal recessive, with mutations in genes like RPE65, CEP290, GUCY2D.
- Symptoms: Profound visual impairment, nystagmus (involuntary eye movement), sluggish or absent pupillary response, and often “ Franceschetti’s oculodigital sign” (eye poking).
- Pathology: Disrupts photoreceptor function in the retina, stopping light from being processed into vision.
- Diagnosis: Clinical exam, electroretinography (ERG shows little/no response), and genetic testing.
- Treatment: No cure yet, but gene therapy (e.g., Luxturna for RPE65 mutations) has shown promise. Low-vision aids, mobility training, and early intervention help quality of life.