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Tag leber congenital amaurosis

Eye Health Education

GENE THERAPY

Gene therapy for Leber congenital amaurosis (LCA) delivers a functional copy of a mutated gene to retinal cells, usually using an adeno-associated virus (AAV) vector injected under the retina. The first FDA-approved treatment, Luxturna, targets RPE65 mutations and has shown improved night vision and visual fields in many patients.

Process: A tiny surgical incision allows subretinal injection of the viral vector carrying the healthy gene.
Outcome: Can restore some visual function, especially in dim light, but not full sight.
Limitations: Effective only for certain mutations; benefits vary, and it’s not a cure.
Risks: Includes inflammation, retinal detachment, or increased eye pressure.
Research: Ongoing trials for other genes like CEP290 and GUCY2D.

Eye Health Education

LEBER CONGENITAL AMAUROSIS

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.