Eagleview Eye Clinic

Tag leber congenital amaurosis

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.

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.