Genetic and Systemic Disease

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 Hospital and Mott’s Children’s Hospital.

Primarily these are genetics and rheumatology (juvenile rheumatoid arthritis, lupus) specialists but also include hematology (sickle cell), oncology (retinoblastoma), endocrinology (diabetes), cardiology, nephrology and neurology (multiple sclerosis).

The eye exam findings can provide help with diagnosing many genetic conditions. Treating eye problems associated with systemic disorders such as juvenile rheumatoid arthritis and diabetes can prevent blindness.

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.