What congenital disorder is associated with cataracts?

Nance-Horan syndrome is a rare genetic disorder that may be evident at birth (congenital). It is primarily characterized by abnormalities of the teeth and clouding of the lens of the eyes (congenital cataracts), resulting in poor vision.

What is congenital cataract of the eye?

A congenital cataract is a rare birth defect of the eye that can cause vision problems or blindness. A congenital cataract happens when the lens of the eye is cloudy instead of clear. A baby may have a cataract in one or both eyes.

Can congenital cataract cause amblyopia?

Depending on the cause of a cataract and how big it is, a baby with a congenital cataract can have other eye problems, including: some vision loss (called “lazy eye” or amblyopia) a rip (tear) in the light-sensitive layer in the back of the eye (retinal detachment)

What causes congenital cataracts in babies?

Possible causes include: a genetic fault inherited from the child’s parents that caused the lens to develop abnormally. certain genetic conditions, including Down’s syndrome. certain infections picked up by the mother during pregnancy, including rubella and chickenpox.

How does cataract cause amblyopia?

An eye disease such as a cataract (a clouding of the lens which prevents light from being focused properly by the eye), may lead to amblyopia. Any factor that prevents a clear image from being focused inside the eye can lead to the development of amblyopia in a child.

How does congenital cataract affect vision?

In children, cataracts can affect 1 or both eyes. Cloudy patches in the lens can sometimes get bigger and more can develop, resulting in the child’s vision becoming increasingly affected. As well as poor vision, cataracts can also cause “wobbling eyes” and a squint, where the eyes point in different directions.

What is the youngest age for cataracts?

It’s a common misconception that cataracts only affect the elderly. While it’s true that most cataracts occur because of aging, it’s not the only reason that cataracts can develop. Many people start developing cataracts as young as age 40.

Can a congenital cataract be removed?

Removing a congenital cataract is usually a safe, effective procedure. The child will need follow-up for vision rehabilitation. Most infants have some level of “lazy eye” (amblyopia) before the surgery and will need to use patching.

What causes amblyopia?

What causes amblyopia? Amblyopia occurs when there is a major difference between the two eyes in their ability to focus. The most common cause of amblyopia is other vision problems. It’s important to treat these other conditions, or the brain starts relying on the eye with better vision, leading to amblyopia.

When should congenital cataract be operated?

While there is some uncertainty regarding the optimal age to perform congenital cataract surgery, most pediatric ophthalmologists believe it is between 4 to 8 weeks of age.

Can amblyopia lead to blindness?

If amblyopia is not treated early, specifically during the period of visual development between birth and 7 years of age, it can result in a permanent visual defect or loss of depth perception.

Which genetic mutations are associated with congenital cataracts?

Congenital cataracts have also been reported in mutations affecting major intrinsic protein, connexin 46 and 50, and LIM-2 proteins.12It is known that 25% of mutations associated with congenital cataract are in connexin genes.22 3) Mutations of lens cytoskeletal elements

How to identify congenital cataract?

Therefore, one of the most critical steps is recognizing congenital cataract at an early age through postnatal eye screening. The red reflex test is a simple screening test that is important in the detection of many ocular pathologies, especially congenital cataract.

Why are congenital cataracts often misdiagnosed as pseudophakic?

One of the main reasons for this is that people diagnosed with congenital cataracts often present for investigation of the molecular etiology after surgery, and the cataract morphology cannot be determined because they are pseudophakic.

Can next-generation sequencing determine the molecular etiology of congenital cataract?

Recently, next-generation sequencing in particular has become an evolving technology for determining the molecular etiology of congenital cataract and furthering our knowledge of the disease. Keywords: Genetics, congenital cataract, crystallin, lens, next-generation sequencing