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Leber congenital amaurosis
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Leber congenital amaurosis

Leber congenital amaurosis is a group of inherited retinal diseases that cause severe vision loss in infancy or early childhood.

Overview

Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are part of a spectrum of diseases characterized by severe visual impairment. LCA typically refers to vision loss occurring in the first year of life, while EOSRD refers to vision loss between ages 1 and 5.

Clinical Features

  • Vision Problems: Increased sensitivity to light (photophobia), involuntary eye movements (nystagmus), and extreme farsightedness.
  • Pupillary Response: Pupils may react slowly or not at all to light.
  • Strabismus: Misalignment of the eyes, most commonly inward turning (esotropia).
  • Franceschetti's oculo-digital sign: A characteristic behavior of poking, pressing, or rubbing the eyes, which can lead to the sensation of light flashes (phosphenes) and may increase the risk of keratoconus (thinning of the cornea).

Causes

LCA is caused by pathogenic variants in over 20 different genes (such as CEP290, CRB1, GUCY2D, and RPE65). These genes are essential for the development and function of photoreceptors (light-sensing cells in the retina), the process of phototransduction (converting light to electrical signals), or the function of cilia within retinal cells.

Inheritance

  • Autosomal Recessive: Typically, both copies of the gene must have a pathogenic variant. Parents are usually carriers without symptoms.
  • Autosomal Dominant: In some cases, one copy of the altered gene is sufficient. These cases may be inherited from a parent or result from a new mutation during early development.

Frequently Asked Questions

If a newborn shows little or no visual response, persistent nystagmus, a lack of normal pupillary light reflex, or the characteristic oculo‑digital sign within the first few months of life, LCA should be considered. Early referral to a pediatric ophthalmologist for electroretinography (ERG) and retinal imaging can differentiate LCA from other causes such as cataract or optic nerve hypoplasia.
When both parents carry pathogenic variants in the same LCA gene, each pregnancy carries a 25 % chance of an affected child (two defective copies), a 50 % chance of a carrier child (one defective copy), and a 25 % chance of a child with two normal copies. Prenatal carrier testing or pre‑implantation genetic diagnosis can be discussed with a genetic counselor.
Yes. The FDA has approved voretigene neparvovec (Luxturna) for LCA caused by biallelic RPE65 mutations. Clinical trials are also ongoing for CEP290 (using antisense oligonucleotides) and other genes. Eligibility requires confirmed genetic diagnosis, sufficient viable retinal cells, and meeting specific visual acuity thresholds, so genetic testing and retinal assessment are essential first steps.
Use broad‑spectrum, UV‑blocking sunglasses or tinted lenses indoors to reduce glare; position the child’s workspace near a consistent light source to minimize sudden changes in illumination; employ visual aids such as high‑contrast, large‑print books; and consider low‑vision rehabilitation services that can teach eccentric viewing techniques to stabilize gaze despite nystagmus.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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