Who doesn’t love a cute and cuddly baby? They’re so adorable that it’s had to resist getting all smiley and silly when we see them in the local grocery store or at the mall. They’re mini conversation starters. When parents take their child(ren) to public places, they come to expect hearing all of sorts of comments, including both kind words and unsolicited advice. I can remember going into a store with my daughters when they were babies, thinking that we’d just be a few moments only to end up in a fifteen minute conversation with someone we attempted to rush past in the paper towel aisle. Complete strangers would make comments like, “Oh, they’re adorable!”, “How cute are they?”, “You should put a sweater on her; she looks cold.” or “What big, beautiful eyes she has!” But, what if the child’s big eyes were linked to a rare genetic disease?
Axenfeld-Rieger Syndrome (ARS)
Axenfeld-Rieger syndrome is a group of disorders, mainly affecting the eyes. Roughly about half of the people diagnosed with the syndrome will develop glaucoma. Glaucoma is defined by the National Eye Institute as a “group of diseases that damage the eye’s optic nerve and can result in vision loss and blindness.” Glaucoma may be present at birth or the onset might not occur until adulthood. People affected by glaucoma have increased pressure behind their eyes. If not treated, glaucoma may lead to blindness.
Let’s take it back to our high school biology class for a moment, shall we? The cornea is the clear part of the eye. The iris is the colored part of the eye. The retina is the light-sensitive tissue located at the back of the eye. A properly working iris contracts to adjust for the amount of light coming into the retina. The black “dot” in the center is the pupil.
People affected by Axenfeld-Rieger syndrome will likely have a cloudy cornea. They may have iris hypoplasia. The American Academy of Ophthalmology indicates that iris hypoplasia is where the iris doesn’t develop properly or the iris that’s intact, erodes. Hypoplasia affects the iris’ ability to block the amount of light hitting one’s retina. The pupil may be may be dislocated, abnormally large, extremely small or off center.
Other Presenting Symptoms of ARS
Although primarily an eye disorder, other parts of the body may become affected by Axenfeld-Rieger syndrome. Most people will have distinctive facial features inclusive of dental and craniofacial anomalies. Dental abnormalities may include having oligodontia, which is having fewer teeth than normal, or microdontia, unusually small teeth. The teeth may be cone shaped or widely spaced. The face may appear flattened and the eyes may also be widely spaced.
How is Axenfeld-Rieger syndrome passed from parent to child?
As an inherited disorder, ARS is passed in an autosomal dominant manner. According to the U.S. National Library of Medicine, “Autosomal dominant is one of many ways that a trait or disorder can be passed down through families. In an autosomal dominant disease, if you get the abnormal gene from only one parent, you can get the disease. Often, one of the parents may also have the disease.”
Treatment and Therapies
- Children with extreme sensitivity to light or photophobia might be more comfortable wearing sunglasses when they go outside.
- Some forms of glaucoma may be treated with eye drops or laser surgery.
- Many craniofacial abnormalities may also be treated with surgery.
- Visual aids may also be helpful.
Supporting Parents of Children with ARS
A child with ARS may have unusually large eyes. They may appear almost doll-like. It may be hard for most of us to resist impulsively uttering our comments when we see one of these precious children. I imagine that a parent of a child with Axenfeld-Rieger syndrome might get tired of hearing, “oh, what big eyes she has.” They might even feel the need to explain or justify why the child’s eyes appear “different”. So, let’s think twice before we offer uninvited advice to parents regarding their child’s facial features unless, of course, we’re simply offering compliments without question or judgement.
Resources for Parents
The Childhood Glaucoma Foundation – https://www.childrensglaucoma.org/
NIH/National Eye Institute – http://www.nei.nih.gov/
Genetic and Rare Diseases (GARD) Information Center – https://rarediseases.info.nih.gov/