autosomal dominant isolated ectopia lentis 1

Autosomal Dominant Isolated Ectopia Lentis 1 (ADIE1)

Autosomal dominant isolated ectopia lentis 1 (ADIE1) is a rare genetic disorder that affects the eyes, specifically the positioning of the lens. It is characterized by the abnormal stretching of zonular fibers leading to lens dislocation, causing visual impairment [6][8].

Inheritance Pattern

ADIE1 is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder [1]. This means that if one parent has the condition, there is a 50% chance that each child will inherit it.

Clinical Features

The clinical features of ADIE1 include:

• Dislocation of the lens in one or both eyes
• Abnormal stretching of zonular fibers
• Visual impairment due to lens dislocation
• The disorder can be present at birth, but symptoms may not become apparent until later in childhood [11]

Genetic Cause

ADIE1 is caused by mutations in the FBN1 gene on chromosome 15q21 [6][8]. This gene provides instructions for making a protein called fibrillin-1, which plays a crucial role in the development and maintenance of connective tissue.

Prevalence and Age of Onset

The prevalence of ADIE1 is extremely rare, with less than 1 in 1 million people affected [4]. The age of onset can vary, but symptoms often present in childhood.

References

[1] - When isolated ectopia lentis is caused by mutations in the FBN1 gene, it is inherited in an autosomal dominant pattern...

[6] - Ectopia lentis 1, isolated, autosomal dominant is a condition characterized by the abnormal stretching of zonular fibers leading to lens dislocation, causing visual impairment.

[8] - Definition. An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation.

[11] - Isolated ectopia lentis (IEL) is a genetic disorder that affects the positioning of the lens in the eyes...

Signs and Symptoms of Autosomal Dominant Isolated Ectopia Lentis

Autosomal dominant isolated ectopia lentis is a rare genetic disorder characterized by the dislocation or malpositioning of the crystalline lens in one or both eyes. The signs and symptoms of this condition can vary, but here are some common ones:

• Dislocated or Malpositioned Lens: The most distinctive feature of autosomal dominant isolated ectopia lentis is the displacement of the lens from its normal position. This can cause vision problems and other complications.
• Vision Problems: Individuals with autosomal dominant isolated ectopia lentis often experience significant reduction in visual acuity, which can range from mild to severe. Vision problems may include:
  • Nearsightedness (myopia) [7]
  • Blurred vision (astigmatism) [12]
  • Clouding of the lenses
• Reduced Visual Acuity: The degree of malpositioning of the lens determines the severity of visual acuity loss. In some cases, individuals may experience amblyopia, a condition where one eye is significantly weaker than the other.
• Other Ophthalmic Features: While not exclusive to autosomal dominant isolated ectopia lentis, other ophthalmic features can occur in conjunction with this condition, including:
  • Progressive myopia
  • Iridodonesis (irregular movement of the iris)
  • Cataract
  • Iris atrophy
  • Retinal detachment
  • Central retinal artery occlusion
  • Optic atrophy

It's essential to note that autosomal dominant isolated ectopia lentis can be inherited in an autosomal dominant pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disorder [1]. If you suspect you or a family member may have this condition, consult with an eye care professional for proper evaluation and treatment.

References:

[1] - When isolated ectopia lentis is caused by a genetic mutation, it can be inherited in an autosomal dominant pattern. [7] - Individuals with autosomal dominant isolated ectopia lentis often experience nearsightedness (myopia). [12] - Symptoms of IEL usually present in childhood and may include vision problems such as nearsightedness (myopia), blurred vision (astigmatism), clouding of the lenses.

Based on the provided context, here are the diagnostic tests for autosomal dominant isolated ectopia lentis 1:

• Clinical Molecular Genetics test: This test is recommended for individuals with a personal and/or family history of this disorder to ensure a molecular diagnosis (Context #4).
• Deletion/duplication analysis: This type of genetic analysis can provide a molecular diagnosis of this disorder (Context #4).
• Next-Generation (NGS)/Massively Parallel Sequencing (MPS): This test is used for genetic analysis to provide a molecular diagnosis of this disorder (Context #5).

Additionally, the context mentions that clinical trials are available to determine if a new test or treatment for this disease is effective (Context #10). However, it does not specify which diagnostic tests are being referred to in this context.

It's worth noting that the FBN1 gene mutation is associated with autosomal dominant isolated ectopia lentis 1, and genetic testing can be used to confirm this diagnosis (Context #7).

References: [4] Clinical Molecular Genetics test for Ectopia lentis 1, isolated, autosomal dominant and using Deletion/duplication analysis, Next-Generation (NGS)/Massively ... [5] Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure ... [7] Mar 1, 2015 — When isolated ectopia lentis is caused by mutations in the FBN1 gene, it is inherited in an autosomal dominant pattern, which means one copy of ...

Aut