Leber congenital amaurosis 17

Leber Congenital Amaurosis 17 (LCA17) Overview

Leber congenital amaurosis 17, also known as LCA17, is a severe retinal dystrophy that affects individuals from birth. This condition primarily impacts the retina, leading to impaired vision or blindness.

Key Characteristics:

• Congenital: LCA17 is present at birth and is not acquired later in life.
• Severe Retinal Dystrophy: The condition results in significant impairment of retinal function, leading to severe visual loss.
• Early Childhood Presentation: Symptoms typically become apparent in early childhood.

Symptoms:

• Poor Visual Function: Individuals with LCA17 often experience severely impaired vision or blindness.
• Nystagmus: Abnormal eye movements, known as nystagmus, may be present.
• Other Ocular Manifestations: Additional ocular symptoms can occur, although these are not universally present.

Genetic Cause: LCA17 is caused by a compound heterozygous mutation in the GDF6 gene (601147) on chromosome 8q22. This genetic alteration disrupts normal retinal development and function.

References:

• [3] 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 ...
• [9] Leber congenital amaurosis 17 is a severe retinal dystrophy that typically presents in early childhood. Symptoms include poor visual function, nystagmus, ...

Leber congenital amaurosis (LCA) 17 is a rare inherited eye disorder that affects the retina, leading to severe visual impairment or blindness in affected individuals.

Common Signs and Symptoms:

• Roving Eye Movements: Affected infants often exhibit roving eye movements, which can be detected by parents within the first few months of life [4].
• Lack of Visual Responsiveness: Parents may notice a lack of visual responsiveness in their child, indicating that the child is not responding to visual stimuli [6].
• Oculodigital Sign: A characteristic sign of LCA 17 is the oculodigital sign, where affected individuals poke, press, and rub their eyes with a knuckle or finger due to photophobia and discomfort [1][7].
• Photophobia: Affected individuals may exhibit sensitivity to light (photophobia) and discomfort when exposed to bright lights [2][8].
• Nystagmus: Rapid, involuntary eye movements (nystagmus) can also be a symptom of LCA 17 [2][3].
• Blindness: Unfortunately, LCA 17 is characterized by blindness in affected individuals [9].

Other Possible Symptoms:

• Refractive Error: Affected individuals may experience refractive errors, such as nearsightedness or farsightedness.
• Keratoconus: Keratoconus, a condition where the cornea thins and bulges, can also be associated with LCA 17.
• High Hyperopia: High hyperopia, a condition where the eyeball is too long, can also occur in affected individuals.

It's essential to note that these symptoms can vary in severity and may not be present in all cases of LCA 17. If you suspect that your child or someone else has this condition, it's crucial to consult with an eye care professional for proper diagnosis and treatment.

References: [1] Oct 6, 2022 — This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. [2] Sep 10, 2024 — Other symptoms may include crossed eyes (strabismus); rapid, involuntary eye movements (nystagmus); unusual sensitivity to light (photophobia); [3] Sluggish pupillary responses, roving eye movement, photophobia, high hyperopia, nystagmus, convergent strabismus, or keratoconus may occur depending on the ... [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 ... [5] ... sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or ... [6] Signs & symptoms. Babies born with LCA have very reduced vision that can often be detected by parents in the first few months of life. They may not respond to ... [7] 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 ... [8] by RG Coussa — Other clinical findings, such as refractive error, photophobia, photodysphoria, sluggish and poorly reactive pupils, oculodigital sign, ... [9] LCA is characterized by blindness, nystagmus, absent or sluggish pupillary responses, photophobia, keratoconus and high hyperopia. A typical sign of this ...

Leber

Current Drug Treatments for Leber Congenital Amaurosis

While there are no specific drug treatments mentioned in the search results, it is worth noting that gene therapy has been approved and used to treat certain forms of Leber congenital amaurosis (LCA). However, for other forms of LCA, symptomatic management is typically employed.

• Gene Therapy: Luxturna, an RPE65 gene therapy, was approved by the FDA in 2017 for the treatment of a specific form of LCA caused by mutations in the RPE65 gene. This treatment has been shown to be safe and substantially efficacious in treating this particular form of LCA [6].
• Symptomatic Management: For most forms of LCA, management is symptomatic, meaning that it focuses on alleviating symptoms rather than addressing the underlying cause of the disease.

It's essential to note that Leber congenital amaurosis is a rare and severe eye disorder, and treatment options may vary depending on individual circumstances. If you're looking for more information or specific guidance on treating LCA, consult with an ophthalmologist or a medical professional who specializes in this area.

References: [1] [3] [6]

The differential diagnosis for Leber Congenital Amaurosis (LCA) includes a range of conditions that can present with similar symptoms.

Syndromic and Non-Syndromic Diseases

According to search result [2], the differential diagnosis of LCA includes both syndromic and non-syndromic diseases. This means that the condition can be part of a larger syndrome or occur in isolation without any other associated conditions.

Connatal Blindness Differential Diagnosis

The differential diagnosis for connatal blindness, which is often used interchangeably with LCA, includes hereditary optic atrophy, congenital optic atrophy, and retarded myelinization of the optic nerve [7].

Other Conditions to Consider

In addition to these conditions, other diseases that can present with similar symptoms include:

• Hereditary optic atrophies
• Congenital optic atrophies
• Retarded myelinization of the optic nerve

These conditions can all be considered in the differential diagnosis for LCA.

References:

[2] 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 ...