Autosomal recessive isolated ectopia lentis

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Autosomal recessive isolated ectopia lentis is a rare genetic disorder characterized by the dislocation or displacement of the eye's lens without the presence of other systemic abnormalities. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Genetics

The condition is caused by mutations in the ADAMTSL4 gene, which provides instructions for making a protein that is involved in the formation and maintenance of the extracellular matrix. The extracellular matrix is a network of proteins and other molecules that provides structural and biochemical support to surrounding cells. Mutations in the ADAMTSL4 gene disrupt the normal function of this protein, leading to the weakening of the fibers that hold the lens in place.

Symptoms

The primary symptom of autosomal recessive isolated ectopia lentis is the dislocation of the lens, which can lead to visual impairment. The lens may shift in any direction, causing myopia, hyperopia, or astigmatism. Other symptoms may include glaucoma and cataracts, which can further impair vision.

Diagnosis

Diagnosis of autosomal recessive isolated ectopia lentis is typically made through a combination of clinical examination and genetic testing. An ophthalmologist may observe the dislocation of the lens during an eye examination. Genetic testing can confirm the diagnosis by identifying mutations in the ADAMTSL4 gene.

Treatment

Treatment for autosomal recessive isolated ectopia lentis focuses on managing the symptoms and improving vision. This may include the use of corrective lenses, such as glasses or contact lenses, to address refractive errors. In some cases, surgery may be necessary to reposition the lens or to treat associated conditions like glaucoma or cataracts.

Prognosis

The prognosis for individuals with autosomal recessive isolated ectopia lentis varies depending on the severity of the lens dislocation and the presence of associated conditions. With appropriate management and treatment, many individuals can achieve good visual outcomes.

See also

• Ectopia lentis
• Autosomal recessive disorder
• Genetic disorder
• Ophthalmology