Ophthalmological Problems Common in Children With Muscular Dystrophies

In a recent study published in the Journal of Pediatric Ophthalmology and Strabism, a team of researchers from Turkey found that ophthalmological problems are commonly seen in children with muscular dystrophies.

Muscular dystrophy includes a group of diseases that cause progressive weakness and loss of muscle mass, where abnormal genes (mutations) interfere with the production of proteins necessary to form healthy muscle. Symptoms of the most common variety begin in childhood, primarily in boys. Other types do not surface until adulthood.

Some people who have muscular dystrophy will eventually lose the ability to walk. Some may have trouble breathing or swallowing, and the involvement of the eye is also a common feature. There is currently no cure for muscular dystrophy, however medications and therapy can help manage symptoms and slow the course of the disease.

In the study entitled ”Ophthalmological Findings of Turkish Children With Muscular Dystrophies”, Pinar Altiaylik Ozer, MD., and colleagues from the Departments of Ophthalmology (PAO, EUK, GTE, BEK) and Pediatric Neurology (AA, DY, MO), Ministry of Health, Dr. Sami Ulus Maternity and Children Research and Training Hospital in Ankara, Turkey, performed a retrospective study of the ophthalmological medical records of 74 children with a type of muscular dystrophy that were examined from 2011 to 2015.

Results revealed that in this population of children the most frequent observed type of MD was Duchenne muscular dystrophy which affected 67.5% of the patients, followed by Becker muscular dystrophy which affected 9.4% of the children. Myotonic dystrophy was found to affect 8% of the children, limb-girdle muscular dystrophy affected 6.7%, merosin-negative muscular dystrophy affected 4% , and Ullrich muscular dystrophy affected 4% of all cases. A total of ten cases of Duchenne muscular dystrophy had both retinal pigmentary and macular achanges (20%) and 9 had abnormal electroretinographies with decreased photopic and scotopic responses.

Ptosis was the most common finding in 83.3% of the patients. Among the cases with myotonic dystrophy, the researchers did not observe any abnormalities of pupil size, light reflexes, or saccadic and smooth pursuit movements.

Based on their results, the authors concluded that simple ophthalmological screening and early interventions can improve their communication skills by way of increasing their visual talents.