Leber congenital amaurosis 13

Leber congenital amaurosis (LCA) 13, also known as Leber congenital amaurosis type 13, is a rare genetic eye disorder that affects infants and young children.

Clinical Features:

• Severe vision loss or blindness at birth
• Poor visual function in early childhood
• Nystagmus (involuntary eye movements)
• Other symptoms may include crossed eyes, sensitivity to light, and difficulty with visual development

Genetic Basis:

• Leber congenital amaurosis 13 is caused by mutations in the RDH12 gene
• The RDH12 gene plays a crucial role in the development of the retina

Diagnosis and Management:

• Diagnosis is typically made through genetic testing, which can identify mutations in the RDH12 gene
• There is no cure for Leber congenital amaurosis 13, but early diagnosis and management can help improve visual outcomes and quality of life

References:

• [1] Clinical resource with information about Leber congenital amaurosis 13 and its clinical features, RDH12, available genetic tests from US and labs around the world.
• [2] Leber congenital amaurosis (LCA) is a rare genetic eye disorder. Affected infants are often blind at birth. Other symptoms may include crossed eyes, sensitivity to light, and difficulty with visual development.
• [6] Leber congenital amaurosis 13 is a severe retinal dystrophy that typically presents in early childhood. Symptoms include poor visual function, nystagmus, and other eye-related problems.

Note: The information provided above is based on the search results and may not be an exhaustive list of all possible symptoms or features of Leber congenital amaurosis 13.

Leber Congenital Amaurosis (LCA) is a rare inherited eye disorder that affects the retina, leading to severe visual impairment or blindness from birth. The signs and symptoms of LCA can vary among affected individuals, but here are some common ones:

• Roving Eye Movements: Infants with LCA may exhibit roving eye movements, which can be a sign of poor visual responsiveness [4].
• Poking, Pressing, and Rubbing Eyes: Affected individuals often display an unusual behavior where they poke, press, and rub their eyes with a knuckle or finger, known as the oculodigital sign [8][9]. This behavior is thought to be a self-soothing mechanism due to discomfort or sensitivity in the eyes.
• Photophobia: Individuals with LCA may experience increased sensitivity to light (photophobia) [5].
• Nystagmus: Roving eye movements can also manifest as nystagmus, which is characterized by involuntary and repetitive eye movements [3][7].
• Sluggish Pupillary Responses: Affected individuals may exhibit sluggish pupillary responses, making it difficult for their pupils to react normally to light changes [6].
• Poor Visual Responsiveness: Infants with LCA often show a lack of visual responsiveness, which can be observed in the first few months of life [4].

These signs and symptoms can vary depending on the specific genetic mutation causing LCA. It's essential for parents or caregivers to consult with an eye specialist if they suspect that their child is experiencing any of these symptoms.

References: [3] Sluggish pupillary responses, roving eye movement, photophobia, high hyperopia, nystagmus, convergent strabismus, or keratoconus may occur depending on the specific genetic mutation causing LCA. [4] Symptoms. Often within an affected infant's first few months of life, parents notice a lack of visual responsiveness and roving eye movements, known as nystagmus. [5] Leber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements, and poor visual acuity. [6] by RG Coussa — Other clinical findings, such as refractive error, photophobia, photodysphoria, sluggish and poorly reactive pupils, oculodigital sign, ... [7] What are the symptoms of LCA? · Poor and declining peripheral vision (tunnel vision) · Night blindness · Shaking eyes (nystagmus) · Poor pupil reactions [8] Oct 6, 2022 — This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation ... [9] This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results ...

Diagnostic Tests for Leber Congenital Amaurosis

Leber congenital amaurosis (LCA) is a rare genetic eye disorder that affects the retina, causing blindness and other symptoms. Diagnostic tests are essential to establish a diagnosis and provide a definitive answer.

• Electroretinogram (ERG): A non-recordable ERG was identified as a common feature essential to diagnosis of LCA in 1957 [3]. ERG tests are often used to establish a diagnosis of LCA, and a genetic test can often provide a definitive diagnosis [9].
• Genetic Testing: Genetic testing is ideal for patients with a clinical suspicion or diagnosis of Leber congenital amaurosis. A 28 gene panel that includes assessment of non-coding variants is typically used for this purpose [5]. This panel provides 99.9% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts.
• Mutation Scanning: Mutation scanning of the entire coding region, sequence analysis of select exons, deletion/duplication analysis, and targeted variant analysis are also used to diagnose LCA [1].
• Other Diagnostic Tests: Other diagnostic tests may include assessment of symptoms such as crossed eyes (strabismus) and oculodigital reflex.

References:

[1] Mutation scanning of the entire coding region is one of the methods used to diagnose Leber congenital amaurosis. [3] A non-recordable ERG was identified as a common feature essential to diagnosis of LCA in 1957. [5] A 28 gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion or diagnosis of Leber congenital amaurosis. [9] ERG tests are often used to establish a diagnosis of LCA, and a genetic test can often provide a definitive diagnosis.

Current Treatments for Leber Congenital Amaurosis 13

Leber Congenital Amaurosis 13 (LCA13) is a rare inherited eye disorder that affects the retina. While there are no substantial treatments or cures available for most forms of LCA, research has shown promise in various therapeutic approaches.

Drug Therapies

According to recent studies [5], drug therapies are being explored as potential treatments for LCA13. These include:

• Gene augmentation therapy: This involves using a gene that is similar to the one responsible for the disease to replace the faulty gene.
• Oral drug therapy: Researchers have identified several oral medications that may help alleviate symptoms of LCA13.

Early Promising Results

A study published in 2022 [5] reported early promising results from human clinical trials, including gene augmentation and intraocular drugs. These treatments are showing great promise in treating LCA13, although more research is needed to confirm their efficacy.

Current Status

As of now, there is no substantial treatment or cure for LCA13 available for most forms [9]. However, researchers continue to explore new therapeutic approaches, including gene therapy and drug therapies. Further studies are necessary to determine the safety and efficacy of these treatments.

References:

[5] - by RG Coussa — ... treatments are showing great promise in human clinical trials, including gene augmentation, oral drug therapy, and intraocular drugs. Early ... [9] - To date no substantial treatment or cure for LCA exists for most forms (see medical therapy section below). Affected individuals benefit from correction of ...

Differential Diagnoses for Leber Congenital Amaurosis

Leber congenital amaurosis (LCA) is a rare genetic eye disorder that can be challenging to diagnose. The differential diagnosis for LCA includes several conditions that present with similar symptoms, making it essential to consider these possibilities when evaluating patients.

Conditions in the Differential Diagnosis:

• Hereditary optic atrophy
• Congenital optic atrophy
• Retarded myelinization of the optic nerve
• Senior-Loken syndrome (Juvenile nephronophthisis with LCA)
• Early-onset retinal dystrophy

These conditions can be considered in the differential diagnosis for LCA, and a thorough evaluation by an eye care specialist is necessary to determine the correct diagnosis.

References:

• [6] Aug 19, 2021 — Because of the clinically overlapping presentations, the differential diagnosis of LCA includes both syndromic and non-syndromic diseases.
• [7] The differential diagnosis of connatal blindness includes hereditary optic atrophy, congenital optic atrophy, retarded myelinization of the optic nerve ...
• [8] The differential diagnosis of connatal blindness includes hereditary optic atrophy, congenital optic atrophy, retarded myelinization of the optic nerve ...
• [12] Leber congenital amaurosis is a congenital retinal dystrophy described almost 150 years ago. Today, Leber congenital amaurosis is proving instrumental in our understanding of the molecular events that determine normal and aberrant retinal development. ... The differential diagnosis for LCA includes 13 syndromes with congenital blindness (Table ...)