Most genetic and systemic disorders require a multidisciplinary team approach. The Children’s Eye Care ophthalmologists work with the pediatric specialists through Children’s Hospital of Michigan, Beaumont Children’s and Mott’s Children’s Hospital.
Primarily these are genetics and rheumatology (Juvenile idiopathic arthritis, lupus) specialists but also include hematology (sickle cell), oncology (retinoblastoma), endocrinology (diabetes), cardiology, nephrology and neurology.
Albinism is a congenital disorder that can have a profound effect on vision.
When you hear the term “albino,” you might think of someone with extremely light skin or eyes. But there’s much more to this condition, which affects about one in every 17,000 people.
Albinism refers to a group of congenital disorders that cause a person to have either very little or no melanin, which is the pigment that dictates hair, skin and eye color and is also involved in optic nerve development. While there are many types of albinism, each of them can cause vision problems.
In ocular albinism, children may have normal skin and hair color but will have reduced pigmentation of the iris and retina. Symptoms include problems with blurry vision, involuntary eye movements (nystagmus) and light sensitivity.
Other types of albinism may affect the eyes and skin (oculocutaneous albinism), and certain rare associated syndromes could cause problems with blood clotting and hearing. There’s no cure for albinism, but people with the condition usually have a normal life expectancy and are encouraged to work closely with their medical team to treat their symptoms and help avoid complications.
They are typically photophobic (sensitive to light) which can be treated with sunglasses and car window tinting. Many children have refractive errors so they can be treated with photochromic or transition prescription eyeglasses. Some children with albinism develop strabismus (misalignment of the eyes) and may require eye muscle surgery.
Children with albinism need a full medical examination by their primary care physician to rule out associated conditions. Consistent use of sunscreen, hats and sunglasses is needed and it is highly recommended that parents limit their child’s exposure to sun.
NOAH – The National Organization for Albinism and Hypopigmentation
This national nonprofit provides a wide range of services for children, teens and adults with albinism. Programs include support for the newly diagnosed, scholarships, parent education, events and support groups.
Albinism Support Group
A support group with more than 780 members for people with albinism, parents of kids with albinism and family members of those with albinism.
Search facebook.com for “Albinism Support Group”
Books about albinism
Consider these recommended books, which are geared toward children with albinism.
- But Mommy It’s Not Fair! by Sherria LaShon Elliott. $12.99 on Amazon.
- My Shaking Eyes (But Mommy It’s Not Fair!, Volume 2) by Sherria LaShon Elliott. $12.99 on Amazon.
- Kids Just Don’t Understand (But Mommy It’s Not Fair!, Volume 3) by Sherria LaShon Elliott. $9.99 on Amazon.
Juvenile Idiopathic Arthritis
Juvenile Rheumatoid Arthritis (JRA) is also known as Juvenile Idiopathic Arthritis (JIA). The most common eye problem is inflammation inside the eye. It is often present without symptoms or signs. It can lead to blindness if left untreated. The risk depends on the age, sex, number of joints involved and the laboratory tests. The highest risk group is young girls with arthritis in four or fewer joints and that are ANA+ and rheumatoid factor negative. Older children with multiple joint arthritis have a much lower risk. Eye exams are recommended every three to twelve months dependent on the risk factors.
Juvenile Diabetes can cause retinal blood vessel changes called diabetic retinopathy. Generally this will not occur until 5 years after diagnosis. The recommendation is to begin yearly eye exams three to five years after diagnosis. The risk of retinopathy is approximately 25% at five years with up to 90% of diabetic patients who have retinopathy after 15 years after diagnosis. Laser treatment may be needed in some cases.
Sickle Cell disease can be associated with abnormal retinal blood vessel growth. The greatest risk is with SC disease. Sickle Cell retinopathy is rare in young children, but the risk increases in teenager years. Yearly eye exams are recommended in the teenage years. Untreated, sickle cell retinopathy can lead to hemorrhage and loss of sight. Laser treatment may be needed to prevent these complications.
Children’s Eye Care provides this information for general educational purposes only. It should not be construed as personal medical advice. Information published on this website is not intended to replace, supplant, or augment a consultation with an eye care professional. Children’s Eye Care disclaims any and all liability for injury or other damages that could result from use of the information obtained from this site.
Sturge-Weber Syndrome is known for the “port wine stain” that appears on the face.
When it comes to identifying Sturge-Weber syndrome, some might say you’ll know it when you see it. This neurological disorder, which can affect the eyes, is often known for its telltale port wine stain birthmark.
The mark, which can appear light pink to dark purple in color, is flat and typically on one side of the face. But the impact of Sturge-Weber syndrome extends well beyond its physical characteristics (which involves the forehead, eyelid and/or cheek) with some patients having seizures. Chronic seizures can hinder a child’s cognitive development.
Children with this condition, which is caused by a gene mutation but is not inherited, have a higher chance of developing glaucoma – increased pressure in the eye that can cause gradual vision loss. Glaucoma can present at any age and can be difficult to detect, so children with Sturge-Weber syndrome are monitored closely.
Treatments for Sturge-Weber syndrome can include medications to help control seizures, medicated eye drops and/or surgery to treat glaucoma and laser therapy for the port-wine stain.
It’s important to know that many children with this condition have normal vision on the side of their face not affected by the port wine stain, making it easier for them to do things like drive a car in the future.
Sturge-Weber syndrome support
Find resources to help families cope with a diagnosis of Sturge-Weber syndrome.
This organization aims to improve the the quality of life and care for people with Sturge-Weber syndrome and associated conditions. It supports education, research and awareness of the syndrome and provides resources including a patient engagement network and clinical care network.
Sturge-Weber Syndrome Community
This group was founded by parents of children with Sturge-Weber syndrome and people who have the condition. It provides information, advice, support groups and other resources for people affected by Sturge-Weber syndrome. T
Sturge-Weber Syndrome Community Facebook group
This small but active group offers a place to ask questions and share experiences with others affected by the syndrome.
Search “Sturge-Weber Syndrome Community” at fb.com