Leber congenital amaurosis 2

Leber congenital amaurosis (LCA) 2, also known as RPE65-related LCA/EOSRD, is a severe inherited retinal degeneration that affects the retina's ability to detect light and color. This condition typically presents between birth and age five years, with severe visual impairment being the hallmark of this disorder.

Key Features:

• Severe visual impairment from birth or shortly afterward
• Presence of nystagmus (involuntary eye movements)
• Sluggish or near-absent pupillary responses
• Severely decreased visual acuity
• Photophobia (sensitivity to light)
• High hyperopia (farsightedness)

Genetic Basis: LCA 2 is caused by mutations in the RPE65 gene, which codes for a protein essential for the normal functioning of the retina. Compound heterozygosity for mutations in this gene has been identified in two siblings with LCA 2.

Prevalence and Impact: Leber congenital amaurosis (LCA) is a rare type of inherited eye disorder that causes severe vision loss at birth, affecting approximately two to three out of every 100,000 babies. This condition can have a significant impact on the quality of life for affected individuals and their families.

References:

• [4] Marlhens et al. (1997) demonstrated that mutations in the RPE65 gene can cause LCA 2.
• [5] RPE65-related LCA/EOSRD is characterized by severe visual impairment, nystagmus, and sluggish pupillary responses.
• [6] Leber congenital amaurosis (LCA) is a family of congenital retinal dystrophies that results in severe vision loss at an early age.
• [7] LCA 2 is the most common cause of inherited blindness in childhood.

Common Signs and Symptoms of Leber Congenital Amaurosis

Leber congenital amaurosis (LCA) is a rare genetic condition that affects the retina, leading to blindness and low vision in infants. The signs and symptoms of LCA can vary from person to person, but here are some common ones:

• Rapid, involuntary eye movements (nystagmus): This is one of the earliest signs of LCA, often noticed by parents within the first few months of life [2].
• Unusual sensitivity to light (photophobia): Affected individuals may exhibit extreme sensitivity to light, which can cause discomfort and pain [3][4].
• Crossed eyes (strabismus): In some cases, LCA can lead to crossed or misaligned eyes, which can be a sign of the condition [2].
• Extreme farsightedness: People with LCA often have severely decreased visual acuity, making it difficult for them to see objects clearly at a distance [4][5].
• Sluggish pupillary responses: The pupils may not react normally to light, which can be another sign of the condition [8].

It's essential to note that these symptoms can vary in severity and presentation from person to person. If you suspect that your child or someone else has LCA, it's crucial to consult with a medical professional for proper diagnosis and treatment.

References: [1] Not applicable (this is not a reference) [2] Context 2: Sep 10, 2024 [3] Context 3: Oct 6, 2022 [4] Context 4: No specific date mentioned [5] Context 5: No specific date mentioned [8] Context 8: No specific date mentioned

Diagnostic Tests for Leber Congenital Amaurosis (LCA)

Leber congenital amaurosis (LCA) is a rare genetic eye disorder that affects the retina, leading to blindness and other symptoms. Diagnostic tests are essential to confirm the diagnosis of LCA.

• Electroretinography (ERG): This test measures the electrical activity in the retinas. A "flat" ERG is a common feature of LCA patients [8][9]. An ERG can be used to diagnose LCA, especially when combined with other tests [2].
• Mutation scanning: This involves analyzing the entire coding region of genes associated with LCA to identify mutations [1].
• Sequence analysis: Select exons (regions) of genes may be analyzed for sequence variations [9].
• Deletion/duplication analysis: This test is used to detect deletions or duplications in genes that can cause LCA [7].
• Targeted variant analysis: A 28 gene panel, including assessment of non-coding variants, is ideal for patients with a clinical suspicion or diagnosis of Leber congenital amaurosis [5].

These diagnostic tests help confirm the diagnosis of LCA and rule out other conditions that may present similar

Leber congenital amaurosis (LCA) is a rare and severe form of inherited retinal disease that affects the retina's ability to respond to light, leading to significant vision loss in early childhood. While there are various treatments being researched and developed for LCA, the current drug treatment options are limited.

Current FDA-approved treatment: One FDA-approved treatment for LCA is Luxturna (voretigene neparvovec), a gene therapy that targets mutations in the RPE65 gene [1][2]. This treatment has been shown to improve vision in patients with LCA caused by mutations in this specific gene. However, it's essential to note that Luxturna is only approved for treating LCA caused by mutations in the RPE65 gene and not other forms of LCA [3].

Other potential treatments: Researchers are exploring various other treatment options for LCA, including:

• Gene replacement therapies, which aim to replace or repair faulty genes responsible for LCA
• Stem cell therapies, which involve using stem cells to regenerate damaged retinal tissue
• Drug therapies, such as small molecule inhibitors that target specific pathways involved in the disease

While these emerging treatments hold promise, they are still in the experimental stages and require further research and clinical trials before being approved for widespread use.

References:

[1] Sep 10, 2024 — There have been major advances in treatments for inherited retinal diseases, such as gene replacement, stem cell therapy and drug therapies, ...

[2] by W Chiu · 2021 · Cited by 79 — Among these clinical trials, voretigene neparvovec-rzyl (Luxturna), an adeno-associated virus vector-based gene therapy drug, was approved by the FDA for ...

[3] Sep 14, 2022 — It's currently only approved to treat LCA caused by mutations to the RPE65 gene.

The differential diagnosis of Leber congenital amaurosis (LCA) includes both syndromic and non-syndromic diseases, due to the clinically overlapping presentations [3]. Some of the conditions that may be considered in the differential diagnosis of LCA include:

• Syndromic diseases:
  • Other inherited eye disorders, such as retinitis pigmentosa
  • Neurological disorders, such as cerebral palsy or epilepsy
  • Metabolic disorders, such as Tay-Sachs disease or Pompe disease
• Non-syndromic diseases:
  • Retinal dystrophies, such as cone-rod dystrophy or Stargardt disease
  • Other forms of inherited blindness, such as achromatopsia

It's worth noting that the differential diagnosis of LCA can be complex and may require a comprehensive evaluation by an ophthalmologist or other eye care specialist [4].