Cataract congenital autosomal dominant

= Cataract Congenital Autosomal Dominant = Cataract congenital autosomal dominant is a hereditary eye disorder characterized by the presence of cataracts at birth or developing shortly thereafter. This condition is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.

Overview

Cataracts are opacities or clouding of the lens of the eye, which can lead to decreased vision. In congenital cases, these cataracts are present at birth or develop during infancy. The autosomal dominant form indicates that the condition can be passed from an affected parent to their child with a 50% chance.

Genetics

The genetic basis of congenital cataracts is diverse, with mutations in several genes being implicated. Some of the genes associated with this condition include:

• CRYAA - Mutations in this gene affect the crystallin proteins, which are crucial for maintaining lens transparency.
• CRYBB2 - Another crystallin gene, mutations here can also lead to cataract formation.
• GJA8 - This gene encodes a gap junction protein, connexin 50, which is important for cell communication in the lens.

For more information on genetic inheritance, see Genetic inheritance.

Symptoms

The primary symptom of congenital cataracts is the clouding of the lens, which can lead to:

• Blurred vision
• Difficulty with bright lights
• Poor visual development in infants

Diagnosis

Diagnosis of congenital cataracts is typically made through a comprehensive eye examination. This may include:

• Visual acuity tests
• Slit-lamp examination
• Retinal examination

Genetic testing can confirm the diagnosis and identify the specific mutation involved.

Treatment

Treatment for congenital cataracts often involves surgical removal of the cloudy lens, followed by the use of corrective lenses or contact lenses to restore vision. Early intervention is crucial to prevent amblyopia, or "lazy eye."

Prognosis

With timely treatment, individuals with congenital cataracts can achieve good visual outcomes. However, ongoing monitoring and vision correction may be necessary.

Epidemiology

Congenital cataracts are relatively rare, with an estimated prevalence of 1 to 6 cases per 10,000 live births. The autosomal dominant form accounts for a significant proportion of hereditary cataracts.

See Also

• Cataract
• Genetic disorders
• Ophthalmology

External Links

• [Genetics Home Reference - Congenital Cataracts](https://ghr.nlm.nih.gov/condition/congenital-cataracts)
• [National Eye Institute - Cataracts](https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/cataracts)

NIH genetic and rare disease info

• NIH info on Cataract congenital autosomal dominant

Cataract congenital autosomal dominant is a rare disease.

focused on better understanding the genetic mutations that cause APRT deficiency and developing more effective treatments. Studies are also exploring the long-term outcomes for individuals with this condition.