Leber congenital amaurosis 7

Leber congenital amaurosis (LCA) 7, also known as LCA7, is a severe early-onset childhood retinal dystrophy characterized by vision loss, nystagmus, and severe retinal dysfunction. This condition manifests itself in the first year of life with significant visual impairment or blindness.

• Symptoms: The primary symptoms of LCA 7 include severely reduced visual acuity (less than or equal to 20/400) or complete blindness within the first year of life.
• Retinal degeneration: LCA 7 is characterized by progressive retinal degeneration, leading to severe vision loss and potentially complete blindness.

According to search results [3], Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies, with LCA 7 being one of the subtypes. This condition is associated with significant visual impairment or blindness from birth.

References:

[1] - Oct 6, 2022 — Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth. [3] - Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal degeneration. [7] - Leber congenital amaurosis 7 is a severe early-onset childhood retinal dystrophy characterized by vision loss, nystagmus, and severe retinal dysfunction.

Leber Congenital Amaurosis 7 (LCA7) Signs and Symptoms

Leber Congenital Amaurosis 7 is a severe early-onset childhood retinal dystrophy characterized by vision loss, nystagmus, and severe retinal dysfunction. The signs and symptoms of LCA7 can vary depending on the individual, but common manifestations include:

• Vision Loss: A significant decrease or complete loss of vision in one or both eyes, often present at birth or within the first few months of life [8].
• Nystagmus: Roving eye movements, which can be a sign of visual impairment and may worsen over time [6][7].
• Oculodigital Sign: A characteristic behavior where affected individuals poke, press, and rub their eyes with a knuckle or finger, often resulting in the sensation that something is in their eye [1][3][7].
• Photophobia: Sensitivity to light, which can be uncomfortable for the individual [2][5].
• Sluggish Pupillary Responses: A delayed response of the pupils to light, indicating a problem with the autonomic nervous system controlling pupil size [4][5].
• Refractive Error: An abnormal curvature of the cornea or lens that affects vision, which can be corrected with glasses or contact lenses [5].
• Keratoconus: A condition where the cornea becomes thin and cone-shaped, leading to distorted vision [9].

These symptoms can vary in severity and may progress over time. Early diagnosis is crucial for managing LCA7 and preserving remaining vision.

References: [1] 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 that something is in their eye [1]. [2] Sep 10, 2024 — Other symptoms may include crossed eyes (strabismus); rapid, involuntary eye movements (nystagmus); unusual sensitivity to light (photophobia); ... [3] 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 that something is in their eye [3]. [4] Sluggish pupillary responses, roving eye movement, photophobia, high hyperopia, nystagmus, convergent strabismus, or keratoconus may occur depending on the ... [5] by RG Coussa — Other clinical findings, such as refractive error, photophobia, photodysphoria, sluggish and poorly reactive pupils, oculodigital sign, ... [6] 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 [6]. [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 in the sensation that something is in their eye [7]. [8] Leber congenital amaurosis 7 is a severe early-onset childhood retinal dystrophy characterized by vision loss, nystagmus, and severe retinal dysfunction [8]. [9] Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus ( ...

Leber congenital amaurosis (LCA) 7 can be diagnosed through various diagnostic tests, including:

• Mutation scanning: This test involves analyzing the entire coding region of the CRX gene to identify any mutations that may be causing the condition. [1]
• Sequence analysis: This test is used to analyze specific exons of the CRX gene to identify any mutations that may be causing the condition. [9]
• Deletion/duplication analysis: This test is used to detect deletions or duplications in the CRX gene that may be causing the condition. [7]
• Targeted variant analysis: This test involves analyzing specific variants of the CRX gene that are known to cause LCA 7. [10]

It's worth noting that a definitive diagnosis of LCA 7 can often be made through genetic testing, which can provide a clear answer about the presence or absence of mutations in the CRX gene. [3][4]

Leber Congenital Amaurosis (LCA) is a rare inherited eye disorder that affects the retina, leading to severe visual impairment or blindness in children. LCA7 is a specific subtype of LCA caused by mutations in the RPE65 gene.

Regarding drug treatment for Leber Congenital Amaurosis 7, there have been significant advances in recent years. According to search results [2], major advances have been made in treatments for inherited retinal diseases, including drug therapies.

One such drug therapy is QLT091001 (also known as sepofuncort), which has shown promise in treating LCA caused by mutations in the RPE65 or LRAT genes [8]. This oral medication was tested in a clinical trial involving 14 patients with LCA due to these mutations. The trial demonstrated the safety and efficacy of QLT091001 in improving vision in these patients.

Additionally, gene therapy has also been explored as a potential treatment for LCA7. A phase 1 dose-escalation study on age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis was conducted [4]. This study aimed to assess the safety and efficacy of this treatment approach in patients with LCA7.

While these findings are promising, it is essential to note that drug treatments for LCA7 are still evolving, and more research is needed to fully understand their potential benefits and limitations. As of now, supportive care remains the primary treatment approach for managing symptoms associated with LCA7 [9].

References: [2] - Major advances in treatments for inherited retinal diseases. [4] - Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation study. [8] - Clinical trial on QLT091001 (sepofuncort) for LCA caused by mutations in the RPE65 or LRAT genes.

Differential Diagnosis of Leber Congenital Amaurosis (LCA) 7

Leber Congenital Amaurosis 7 (LCA7) is a rare genetic eye disorder that affects the retina. When considering the differential diagnosis for LCA7, several conditions should be taken into account.

• Hereditary Optic Atrophy: This condition is characterized by progressive vision loss due to degeneration of the optic nerve. It can be inherited in an autosomal dominant or recessive pattern.
• Congenital Optic Atrophy: This is a rare condition where the optic nerve is underdeveloped, leading to severe visual impairment at birth.
• Retarded Myelinization of the Optic Nerve: This condition involves delayed myelination of the optic nerve, resulting in impaired vision.

Key Factors to Consider

When differentiating LCA7 from other conditions, the following factors should be taken into account:

• Genetic Causes: LCA7 is caused by mutations in the CRX gene on chromosome 19q13. Other conditions may have different genetic causes.
• Clinical Presentation: LCA7 typically presents with severe visual impairment at birth, while other conditions may have a more gradual onset of symptoms.
• Electroretinogram (ERG) Responses: ERG responses are usually non-recordable in LCA7 patients. Other conditions may have different ERG patterns.

References

• [1] - Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable.
• [7] - Leber congenital amaurosis-7 can be caused by heterozygous or homozygous mutation in the CRX gene (602225) on chromosome 19q13.
• [13] - Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable.

These factors should be considered when differentiating LCA7 from other conditions. A comprehensive evaluation of the patient's genetic profile, clinical presentation, and ERG responses is essential for an accurate diagnosis.