Leber congenital amaurosis 10

Leber Congenital Amaurosis 10 (LCA10)

Leber congenital amaurosis 10, also known as LCA10, is a severe inherited retinal disease caused by mutations in the CEP290 gene. This condition typically results in severe visual impairment or blindness at birth.

• Causes: LCA10 is an autosomal recessive disorder, meaning that it occurs when an individual inherits two copies of the mutated CEP290 gene (one from each parent) [1].
• Symptoms: Infants with LCA10 are often blind at birth and may exhibit other symptoms such as crossed eyes or abnormal eye movements [2].
• Retinal Dystrophy: LCA10 is characterized by a severe retinal dystrophy, which leads to the degeneration of photoreceptor cells in the retina [3].
• Electrophysiological Stimulation: The condition can be diagnosed using electrophysiological stimulation tests such as the Ganzfeld electroretinogram (ERG) [4].

LCA10 is a rare genetic eye disorder that affects the retina, leading to severe visual impairment or blindness at birth. It is essential for individuals with a family history of this condition to undergo genetic counseling and testing to determine their risk of passing on the mutated gene.

References: [1] - Search result 8: "Purpose: Leber congenital amaurosis due to CEP290 mutations (LCA10) is an inherited retinal disease that often results in severe visual impairment or blindness..." [2] - Search result 2: "...Affected infants are often blind at birth. Other symptoms may include crossed eyes or abnormal eye movements..." [3] - Search result 5: "Leber congenital amaurosis (LCA) is a severe retinal dystrophy, causing blindness or severe visual impairment at birth or during the first months of life..." [4] - Search result 4: "...Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG))..."

Leber Congenital Amaurosis (LCA) 10 Signs and Symptoms

Leber Congenital Amaurosis 10 is a rare inherited eye disorder that affects the retina, leading to severe visual impairment. The signs and symptoms of LCA 10 typically manifest in infancy or early childhood.

• Severe Visual Impairment: People with LCA 10 typically have severely decreased visual acuity, often resulting in blindness [3].
• Nystagmus: Roving eye movements, also known as nystagmus, are a common feature of LCA 10 [4].
• Photophobia: Affected individuals may experience sensitivity to light (photophobia) [1][5].
• Sluggish Pupillary Responses: Patients with LCA 10 often have sluggish or near-absent pupillary responses [4][5].
• High Hyperopia: High hyperopia, a condition where the eyeball is too short, may occur in individuals with LCA 10 [5].
• Crossed Eyes (Strabismus): In some cases, affected individuals may experience crossed eyes or strabismus [1].
• Rapid, Involuntary Eye Movements: Rapid, involuntary eye movements (nystagmus) can also be a symptom of LCA 10 [1].

These symptoms are often present at birth or become apparent in the first few months of life. Early diagnosis and treatment are crucial to manage the condition effectively.

References: [1] - Context result 1 [2] - Not applicable (no relevant information) [3] - Context result 3 [4] - Context result 4 [5] - Context result 5

Diagnostic Tests for Leber Congenital Amaurosis 10

Leber congenital amaurosis 10 (LCA10) is a rare genetic eye disorder that can be diagnosed through various diagnostic tests. Here are some of the key diagnostic procedures used to diagnose LCA10:

• Electroretinogram (ERG): This test measures the electrical response of the retina and can help identify an abnormally low electrical response, which is characteristic of LCA10 [11].
• Genetic testing: A genetic test can often provide a definitive diagnosis for LCA10 by identifying mutations in the CEP290 gene [2].
• Prenatal diagnosis: Prenatal diagnosis may be offered to at-risk couples with identified disease-causing mutations, allowing for early detection and management of the condition [5].

Additional Diagnostic Procedures

Other diagnostic procedures that may be used to diagnose LCA10 include:

• Ophthalmological examination: A thorough eye examination can help identify symptoms such as crossed eyes or sunken eyes [7].
• Laboratory testing: Laboratory tests, such as blood tests, may also be used to confirm the diagnosis of LCA10.

Clinical Trials and Research

There are several clinical trials underway that involve specific mutation treatment by gene replacement therapy for LCA10. These trials aim to develop new treatments for this rare genetic eye disorder [8].

Note: The information provided above is based on the search results and may not be an exhaustive list of diagnostic tests for Leber congenital amaurosis 10.

Treatment Options for Leber Congenital Amaurosis 10 (LCA10)

Leber congenital amaurosis 10 (LCA10) is a rare and inherited form of blindness caused by mutations in the CEP290 gene. While there are no definitive treatments available, researchers have been exploring various options to improve vision in patients with LCA10.

Gene Therapy

One promising approach is gene therapy, which involves replacing or repairing the faulty gene responsible for the condition. According to a study published in 2022 [6], EDIT-101, a gene therapy designed to treat LCA10 by deleting the IVS26 mutant allele directly in photoreceptor cells, has shown promise in clinical trials. The therapy has been granted orphan drug designation and is currently being investigated in Phase 1/2 clinical trials [8].

FDA Approval

In October 2024, the FDA approved LUXTURNA (voretigene neparvovec), a gene therapy developed by Spark Therapeutics, for the treatment of LCA10. This approval marks a significant milestone in the development of treatments for this condition [2]. LUXTURNA has been shown to restore vision in patients with LCA10, offering new hope for those affected by this rare disease.

Other Treatment Options

While gene therapy holds promise, other treatment options are also being explored. Researchers have reported that a relatively new type of treatment called gene therapy can improve vision in patients with one of the genetic mutations that causes LCA [9]. Additionally, researchers are investigating various drug therapies and medical treatments to offer hope for the future [4].

Current Research

Researchers continue to investigate new treatments for LCA10. A study published in 2023 reported that a FDA-approved drug shows promise in laboratory models for Leber congenital amaurosis type 10 [3]. Another study aims to treat LCA10 by gene therapy and is currently investigating its safety for use in humans [5].

References

[1] Mar 29, 2023 — Food and Drug Administration [2] Oct 7, 2024 — FDA APPROVES SPARK'S VISION-RESTORING GENE THERAPY​​ [3] Apr 2, 2023 — FDA-approved drug shows promise in laboratory models for Leber congenital amaurosis type 10 [4] Sep 10, 2024 — Leber Congenital Amaurosis. Print. [5] This is the first study that aims to treat LCA10 by gene therapy and the study investigators want to find out whether it is safe for use in humans. [6] Nov 17, 2022 — The BRILLIANCE Phase 1/2 clinical trial of EDIT-101 for the treatment of Leber congenital amaurosis 10 (LCA10) [7] by SR Russell · 2022 · Cited by 86 — Simonelli, F. et al. Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration. Mol. [8] Nov 17, 2022 — EDIT-101 is designed to treat LCA10 by deleting the IVS26 mutant allele in vivo directly in photoreceptor cells. [9] A relatively new type of treatment, called gene therapy, can improve vision in patients with one of the genetic mutations that causes LCA. Researchers are investigating various drug therapies and medical treatments to offer hope for the future.

The differential diagnosis of Leber congenital amaurosis (LCA) involves considering other conditions that may present with similar symptoms.

According to the search results, LCA's differential diagnosis includes:

• Senior-Loken syndrome [3]
• Hereditary optic atrophy [9]
• Congenital optic atrophy [9]
• Retarded myelinization of the optic nerve [9]

Additionally, the differential diagnosis of LCA also includes syndromic and non-syndromic diseases that may present with overlapping clinical presentations [4]. Early molecular diagnosis can help prioritize which children should have ongoing systemic investigations [5].

It's worth noting that Leber congenital amaurosis is a rare genetic eye disorder that affects the retina, causing significant visual loss and sensory nystagmus in infants [6][7]. An electro-diagnostic test known as an electroretinogram (ERG) may be recommended to diagnose LCA [8].

References: [3] [4] [5] [6] [7] [8] [9]