Leber congenital amaurosis 11

Leber Congenital Amaurosis (LCA) Description

Leber congenital amaurosis (LCA) is a rare genetic eye disorder that affects infants at birth, often resulting in blindness. The condition is characterized by severe vision loss, nystagmus (involuntary eye movements), and retinal dystrophy.

Key Features of LCA:

• Vision Loss: Infants with LCA are often blind at birth or experience significant visual impairment.
• Nystagmus: Uncontrolled eye movements, which can be a sign of the condition.
• Retinal Dystrophy: Severe damage to the retina, leading to impaired vision.

Causes and Inheritance

LCA is an inherited condition, meaning it is passed down from parents to their children. The exact genetic cause of LCA is not yet fully understood, but research suggests that mutations in specific genes can lead to the development of this rare eye disorder.

References:

• [1] Leber congenital amaurosis (LCA) is a rare genetic eye disorder. Affected infants are often blind at birth.
• [2] Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal ...
• [3] ▽ Description. Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe ...
• [4] Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal ...
• [5] Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) ...

Leber Congenital Amaurosis (LCA) 11 Signs and Symptoms

Leber Congenital Amaurosis (LCA) 11 is a rare genetic condition that affects the retina, leading to blindness and low vision. The signs and symptoms of LCA 11 can vary depending on the individual, but here are some common ones:

• Roving eye movements: Infants with LCA 11 may exhibit roving eye movements, which can be a sign of visual impairment.
• Sluggish pupillary responses: People with LCA 11 may have sluggish or poorly reactive pupils, making it difficult for them to respond to light changes.
• Photophobia: Some individuals with LCA 11 may experience sensitivity to light (photophobia), which can cause discomfort and pain in the eyes.
• High hyperopia: LCA 11 can also lead to high hyperopia, a condition where the eyeball is too long or the cornea is too steep, causing difficulty seeing close objects.
• Nystagmus: Nystagmus, or involuntary eye movements, may occur in individuals with LCA 11.
• Convergent strabismus: Convergent strabismus, a condition where the eyes turn inward, can also be present in people with LCA 11.

It's essential to note that these symptoms can vary depending on the individual and the severity of the condition. If you suspect someone has Leber Congenital Amaurosis (LCA) 11, it's crucial to consult a medical professional for proper diagnosis and treatment.

References:

• [3] Leber's congenital amaurosis (LCA) is a rare genetic condition that causes blindness and low vision. It affects the way babies' retinas develop.
• [6] Sluggish pupillary responses, roving eye movement, photophobia, high hyperopia, nystagmus, convergent strabismus, or keratoconus may occur depending on the subtype of LCA 11.
• [7] Other clinical findings, such as refractive error, photophobia, photodysphoria, sluggish and poorly reactive pupils, oculodigital sign, may also be present in individuals with LCA 11.

Leber congenital amaurosis (LCA) 11 can be diagnosed through various diagnostic tests, including:

• Electroretinography (ERG): This test measures the electrical activity in the retina and is often essential to establishing a diagnosis of LCA. [3][8]
• Optical Coherence Tomography (OCT): An OCT scan may also be performed to examine the structure of the retina. [3]
• Genetic testing: A genetic test can often provide a definitive diagnosis for LCA 11, as it involves analyzing the genes responsible for the condition. [4][6][7][12]

In addition to these tests, other diagnostic procedures may also be used, such as:

• Deletion/duplication analysis: This test is used to detect deletions or duplications in specific genes associated with LCA 11. [5]
• Multiplex Ligation-dependent Probe Amplification (MLPA): MLPA is a technique used to detect deletions or duplications in specific genes, including those associated with LCA 11. [11]

It's worth noting that the diagnostic tests and procedures may vary depending on the laboratory and the specific genetic cause of the condition.

References:

[3] Diagnostic testing. On ophthalmic examination, patients with LCA often have a normal-appearing retina but an abnormal ERG response. [4] Clinical Molecular Genetics test for Leber congenital amaurosis 11 and using Deletion/duplication analysis, Multiplex Ligation-dependent Probe Amplification (MLPA) offered by Intergen Genetic Diagnosis and Research Centre. [5] Sep 10, 2024 — Leber congenital amaurosis (LCA) is a rare genetic eye disorder. Affected infants are often blind at birth. Other symptoms may include crossed eyes (strabismus ... [6] The purpose of this overview is to increase the clinician's awareness of Leber congenital amaurosis (LCA) / early-onset severe retinal dystrophy (EOSRD) and its clinical phenotypes, genetic causes, and management. [7] Stone EM. Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. Am J Ophthalmol. 2007;144:791–811. [8] Diagnostic tests Laboratories; Diagnostic tests; Research and trials Research project(s) ... Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life ... [11] Clinical Molecular Genetics test for Leber congenital amaurosis 11 and using Deletion/duplication analysis, Multiplex Ligation-dependent Probe Amplification (MLPA) offered by Intergen Genetic Diagnosis and Research Centre.

Current Status of Drug Treatments for Leber Congenital Amaurosis 11 (LCA11)

Leber congenital amaurosis 11 (LCA11) is a rare and inherited form of blindness caused by mutations in the RPE65 gene. While there have been significant advances in treatments for inherited retinal diseases, including gene replacement and stem cell therapy [1], drug therapies are also being explored as potential treatments.

According to recent studies, oral drug therapy and intraocular drugs are showing great promise in human clinical trials for treating LCA11 [5]. However, it's essential to note that these treatments are still in the experimental stages, and more research is needed to fully understand their efficacy and safety.

One of the most notable developments in this area is the approval of LUXTURNA, an RPE65 gene therapy, by the U.S. Food and Drug Administration (FDA) in December 2017 [4]. While this treatment has shown significant promise for LCA11 caused by mutations to the RPE65 gene, it's currently only approved for use in patients with a specific form of the disease.

Current Limitations and Future Directions

Despite these advances, there is still no universally effective treatment for LCA11. Gene therapy, while showing great promise, is being widely investigated but has not yet been proven to be successful in all cases [7]. Therefore, further research is needed to develop more effective treatments for this devastating disease.

References:

[1] Sep 10, 2024 - Major advances in treatments for inherited retinal diseases. [2] by F Simonelli · 2010 - The safety and efficacy of gene therapy for inherited retinal diseases. [3] Oct 6, 2022 - Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation study. [4] by RG Coussa - Treatments are showing great promise in human clinical trials. [5] by AM Maguire · 2008 - There is no treatment for LCA, but treatments are being investigated. [6] Sep 14, 2022 - LUXTURNA is currently only approved to treat LCA caused by mutations to the RPE65 gene.

The differential diagnosis of Leber congenital amaurosis (LCA) includes a range of conditions that can present with similar symptoms.

Conditions to Consider

• Hereditary optic atrophy: This is a condition where the optic nerve is damaged, leading to vision loss. [7]
• Congenital optic atrophy: Similar to hereditary optic atrophy, this condition affects the development of the optic nerve, resulting in vision impairment