autosomal recessive isolated ectopia lentis 2

Autosomal recessive isolated ectopia lentis 2 (ECTOL2) is a rare genetic disorder that affects the positioning of the lens in the eyes. It is caused by mutations in the ADAMTSL4 gene, which is inherited in an autosomal recessive manner.

Characteristics:

• The condition is characterized by displacement of the lenses in both eyes, with no other significant abnormalities.
• The displacement can be very mild or more pronounced, leading to visual impairment.
• It is a congenital hereditary disorder, meaning it is present from birth and inherited from parents.

Causes:

• Mutations in the ADAMTSL4 gene are responsible for ECTOL2.
• These mutations are inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the condition.

Symptoms:

• Displacement of the lenses in both eyes
• Visual impairment, which can range from mild to severe
• No other significant abnormalities are typically associated with ECTOL2

References:

• [10] states that Ectopia lentis 2, isolated, autosomal recessive is caused by harmful genetic changes, also known as pathogenic variants.
• [14] mentions that Autosomal recessive isolated ectopia lentis-2 (ECTO2; 225100) is also caused by mutation in the ADAMTSL4 gene.
• [3] states that it is a rare hereditary disorder which is characterized by ectopia lentis (that is; a condition that displaces the position of the eye's lens) present in both eyes with no other significant abnormalities.

Common Vision Problems in Autosomal Recessive Isolated Ectopia Lentis

Individuals with autosomal recessive isolated ectopia lentis often experience various vision problems, which can be categorized into several types:

• Nearsightedness (Myopia): Affected individuals frequently have nearsightedness, which is a condition where close objects are seen clearly but distant objects appear blurry [1][2][4][8].
• Irregular Curvature of the Lens: The lens in affected individuals can have an irregular curvature, leading to vision problems [2][8].
• Decreased Distance Visual Acuity: Some people may experience decreased distance visual acuity due to astigmatism or myopia [6].

Other Possible Symptoms

In addition to these common vision problems, other symptoms may include:

• Monocular Diplopia: This is a condition where double vision occurs in one eye [6].
• Poor Near Vision: Affected individuals may experience poor near vision due to loss of accommodative power [6].
• Progressive Myopia: Some people may develop progressive myopia, which can lead to further vision problems [7].

Complications within the Eye

Ectopic lentis can also cause significant complications within the eye, including:

• Significant Refractive Shifts
• Pupillary Block Glaucoma
• Retinal Damage
• Iridodonesis
• Cataract
• Iris Atrophy
• Central Retinal Artery Occlusion
• Optic Atrophy

It's essential to note that the severity and progression of these symptoms can vary widely among affected individuals.

Autosomal recessive isolated ectopia lentis (ARIEL) is a rare genetic disorder that affects the positioning of the lens in the eyes. While there are no specific treatments available to correct the underlying genetic defect, various medical interventions can help manage the symptoms and complications associated with ARIEL.

Treatment Options:

• Surgery: In some cases, surgery may be necessary to treat related conditions such as glaucoma, retinal detachments, or cataracts. [8]
• Glaucoma treatment: Medications or surgery may be required to manage glaucoma, a common complication of ARIEL. [9]
• Retinal detachment repair: Surgery is often necessary to reattach the retina if it becomes detached due to ARIEL. [10]

Other Considerations:

• Early diagnosis and treatment: Early diagnosis and medical treatment can significantly improve ophthalmic and non-ophthalmic outcomes in individuals with ARIEL. [8]
• Genetic counseling: Genetic counseling may be recommended for families affected by ARIEL to help understand the inheritance pattern of the disorder. [11]

It's essential to note that while these treatments can help manage symptoms, they do not correct the underlying genetic defect causing ARIEL.

References: [8] Early diagnosis and medical treatment significantly improve ophthalmic and non-ophthalmic outcomes. [9] Glaucoma, retinal detachments, and cataracts may require surgery. [10] Treatment Options: [11] Genetic counseling may be recommended for families affected by ARIEL.

Differential Diagnosis of Autosomal Recessive Isolated Ectopia Lentis

Autosomal recessive isolated ectopia lentis (ECTOL2) is a rare hereditary disorder characterized by the displacement of the eye's lens in both eyes, with no other significant abnormalities. When considering differential diagnoses for this condition, several disorders should be taken into account.

• Weill-Marchesani syndrome: This is a genetic disorder that affects the connective tissue and can cause ectopia lentis, among other symptoms.
• Homocystinuria: A metabolic disorder caused by a deficiency of cystathionine beta-synthase, which can lead to ectopia lentis.
• Sulfite oxidase deficiency: Another metabolic disorder that can cause ectopia lentis, as well as other eye and systemic abnormalities.
• Knobloch syndrome: A rare genetic disorder characterized by retinal detachment and ectopia lentis.

These disorders should be considered in the differential diagnosis of autosomal recessive isolated ectopia lentis, particularly when evaluating patients with similar symptoms. [1][2][3][4]

References:

[1] Aman, et al. "A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis." Investigative ophthalmology & visual science53.8 (2012)

[2] Mar 1, 2015 — In people with isolated ectopia lentis, the lens in one or both eyes is not centrally positioned as it should be but is off-center (displaced).

[3] Autosomal recessive isolated ectopia lentis is a rare hereditary disorder which is characterized by ectopia lentis (that is; a condition that displaces the position of the eye's lens) [2] that is present in both eyes with no other significant abnormalities. [3]

[4] Ectopia lentis is also a feature of homocystinuria, sulfite oxidase deficiency, and Knobloch syndrome.